#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
OBSCN	84033	broad.mit.edu	37	1	228495983	228495983	+	Missense_Mutation	SNP	G	G	A	rs56306215		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:228495983G>A	ENST00000422127.1	+	47	12682	c.12638G>A	c.(12637-12639)cGc>cAc	p.R4213H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R1847H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4213H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5170H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1332H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4213	Ig-like 43.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGGATGGCCGCATCCACACC	0.632																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15508-15510)cGc>cAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	HIS/ARG,HIS/ARG	1,4307		0,1,2153	50.0	56.0	54.0		12638,12638	4.1	0.8	1	dbSNP_129	54	14,8458		0,14,4222	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	29,29	0,15,6375	AA,AG,GG		0.1653,0.0232,0.1174	probably-damaging,probably-damaging	4213/7969,4213/6621	228495983	15,12765	2154	4236	6390	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495983G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12638G>A	1.37:g.228495983G>A	ENSP00000409493:p.Arg4213His					OBSCN_ENST00000366709.4_Missense_Mutation_p.R1332H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1847H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4213H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4213H	p.R5170H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			58	15583	+		Prostate(94;0.0405)	4213			Ig-like 49.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15509G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445013	0.63178	2.32E-4	0.001653	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	6.04	4.08	0.47627	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.594738	0.16706	N	0.202893	T	0.67316	0.2880	L	0.33485	1.01	0.25172	N	0.990275	D;P	0.76494	0.999;0.462	D;B	0.64506	0.926;0.048	T	0.55717	-0.8097	10	0.41790	T	0.15	.	6.2494	0.20837	0.2111:0.1403:0.6486:0.0	rs56306215	4213;4213	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	4213;4213;1847;1332	ENSP00000284548:R4213H;ENSP00000409493:R4213H;ENSP00000355668:R1847H;ENSP00000355670:R1332H	ENSP00000284548:R4213H	R	+	2	0	OBSCN	226562606	0.839000	0.29477	0.849000	0.33467	0.029000	0.11900	1.602000	0.36783	1.568000	0.49683	0.563000	0.77884	CGC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	30	0	0	0	1	0	3	30				
PLEKHM1P	440456	broad.mit.edu	37	17	62781406	62781406	+	RNA	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr17:62781406G>A	ENST00000582986.1	-	0	2444					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										TGGTACTTGCGTCAGCGAGCA	0.622																																						ENST00000582986.1																			0																																																			440456							g.chr17:62781406G>A			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62781406G>A								NR_024386.1						0	2444	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.622	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		3	20	0	0	0	1	0	3	20				
TNFRSF21	27242	broad.mit.edu	37	6	47200709	47200709	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:47200709C>G	ENST00000296861.2	-	6	2153	c.1760G>C	c.(1759-1761)cGg>cCg	p.R587P		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	587					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GCGTACCTGCCGCAACACTGT	0.532																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1759-1761)cGg>cCg		tumor necrosis factor receptor superfamily, member 21							69.0	68.0	68.0					6																	47200709		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200709C>G	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1760G>C	6.37:g.47200709C>G	ENSP00000296861:p.Arg587Pro						p.R587P	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2153	-			587					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1760G>C	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425000	0.83667	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.71934	-0.61	5.84	5.84	0.93424	.	0.053940	0.85682	D	0.000000	T	0.72574	0.3477	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76369	-0.2984	10	0.87932	D	0	.	18.3151	0.90218	0.0:1.0:0.0:0.0	.	587	O75509	TNR21_HUMAN	P	587;276	ENSP00000296861:R587P	ENSP00000296861:R587P	R	-	2	0	TNFRSF21	47308668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	CGG		0.532	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		50	109	0	0	0	1	0	50	109				
LRRC1	55227	broad.mit.edu	37	6	53747727	53747727	+	Silent	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:53747727T>C	ENST00000370888.1	+	4	676	c.399T>C	c.(397-399)ctT>ctC	p.L133L	LRRC1_ENST00000370882.1_Silent_p.L133L	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	133						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TAACATGTCTTTCTGTAAATG	0.333																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(397-399)ctT>ctC		leucine rich repeat containing 1							109.0	106.0	107.0					6																	53747727		2202	4298	6500	SO:0001819	synonymous_variant	55227					cytoplasm|membrane		g.chr6:53747727T>C	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.399T>C	6.37:g.53747727T>C						LRRC1_ENST00000370882.1_Silent_p.L133L	p.L133L	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	4	676	+	Lung NSC(77;0.0147)		133					Q5TGN3|Q9HAC0|Q9NVF1	Silent	SNP	ENST00000370888.1	37	c.399T>C	CCDS4953.2																																																																																				0.333	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		14	33	0	0	0	1	0	14	33				
TNIK	23043	broad.mit.edu	37	3	170858223	170858223	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:170858223G>A	ENST00000436636.2	-	13	1641	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	TNIK_ENST00000284483.8_Missense_Mutation_p.R433W|TNIK_ENST00000470834.1_Missense_Mutation_p.R433W|TNIK_ENST00000357327.5_Missense_Mutation_p.R433W|TNIK_ENST00000538048.1_Missense_Mutation_p.R433W|TNIK_ENST00000460047.1_Missense_Mutation_p.R433W|TNIK_ENST00000488470.1_Missense_Mutation_p.R433W|TNIK_ENST00000369326.5_Missense_Mutation_p.R433W|TNIK_ENST00000475336.1_Missense_Mutation_p.R433W|TNIK_ENST00000341852.6_Missense_Mutation_p.R433W	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	433	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTCCTCCCGGCGCATCTGC	0.652																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1297-1299)Cgg>Tgg		TRAF2 and NCK interacting kinase							96.0	107.0	103.0					3																	170858223		2065	4196	6261	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170858223G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1297C>T	3.37:g.170858223G>A	ENSP00000399511:p.Arg433Trp					TNIK_ENST00000357327.5_Missense_Mutation_p.R433W|TNIK_ENST00000538048.1_Missense_Mutation_p.R433W|TNIK_ENST00000369326.5_Missense_Mutation_p.R433W|TNIK_ENST00000475336.1_Missense_Mutation_p.R433W|TNIK_ENST00000488470.1_Missense_Mutation_p.R433W|TNIK_ENST00000470834.1_Missense_Mutation_p.R433W|TNIK_ENST00000341852.6_Missense_Mutation_p.R433W|TNIK_ENST00000284483.8_Missense_Mutation_p.R433W|TNIK_ENST00000460047.1_Missense_Mutation_p.R433W	p.R433W	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		13	1641	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		433			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1297C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998217	0.74818	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.46063	0.94;0.88;0.94;0.88;0.94;0.88;0.88;0.94;0.94;0.88	5.55	2.65	0.31530	.	0.066034	0.64402	D	0.000007	T	0.61311	0.2337	M	0.70595	2.14	0.50813	D	0.999897	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;P	0.70227	0.953;0.953;0.968;0.953;0.953;0.953;0.968;0.898	T	0.63994	-0.6511	10	0.87932	D	0	.	13.9268	0.63968	0.0:0.0:0.4724:0.5276	.	433;433;433;433;433;433;433;433	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	W	433	ENSP00000399511:R433W;ENSP00000358332:R433W;ENSP00000443278:R433W;ENSP00000345352:R433W;ENSP00000284483:R433W;ENSP00000418156:R433W;ENSP00000349880:R433W;ENSP00000418916:R433W;ENSP00000418378:R433W;ENSP00000419990:R433W	ENSP00000284483:R433W	R	-	1	2	TNIK	172340917	0.791000	0.28800	0.999000	0.59377	0.802000	0.45316	1.275000	0.33144	0.239000	0.21243	0.650000	0.86243	CGG		0.652	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		16	223	0	0	0	1	0	16	223				
XPO4	64328	broad.mit.edu	37	13	21370992	21370992	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr13:21370992C>T	ENST00000255305.6	-	17	2598	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K	XPO4_ENST00000400602.2_Missense_Mutation_p.E843K			Q9C0E2	XPO4_HUMAN	exportin 4	843					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTGTAAACTTCCATCAATCCA	0.393																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(2527-2529)Gaa>Aaa		exportin 4							65.0	63.0	64.0					13																	21370992		1833	4086	5919	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21370992C>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2527G>A	13.37:g.21370992C>T	ENSP00000255305:p.Glu843Lys					XPO4_ENST00000255305.6_Missense_Mutation_p.E843K	p.E843K	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	17	2562	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	843					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.2527G>A	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892550	0.72524	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.26067	1.76;1.76	5.55	5.55	0.83447	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	L	0.34521	1.04	0.80722	D	1	B	0.29716	0.255	B	0.24848	0.056	T	0.03423	-1.1038	10	0.20046	T	0.44	-13.3564	19.8592	0.96777	0.0:1.0:0.0:0.0	.	843	Q9C0E2	XPO4_HUMAN	K	843;713;843	ENSP00000383444:E843K;ENSP00000255305:E843K	ENSP00000255305:E843K	E	-	1	0	XPO4	20268992	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.401000	0.79962	2.779000	0.95612	0.491000	0.48974	GAA		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		12	33	0	0	0	1	0	12	33				
ERICH3	127254	broad.mit.edu	37	1	75038309	75038309	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:75038309C>A	ENST00000326665.5	-	14	3303	c.3085G>T	c.(3085-3087)Gtg>Ttg	p.V1029L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1029	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCCTTCCACATCTTCCTTG	0.502																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3085-3087)Gtg>Ttg		chromosome 1 open reading frame 173							132.0	134.0	133.0					1																	75038309		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038309C>A																												ENST00000326665.5:c.3085G>T	1.37:g.75038309C>A	ENSP00000322609:p.Val1029Leu					C1orf173_ENST00000433746.2_5'UTR	p.V1029L	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3303	-			1029			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3085G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197830	0.22037	.	.	ENSG00000178965	ENST00000326665	T	0.14516	2.5	4.45	1.22	0.21188	.	.	.	.	.	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	0.999995	B	0.25441	0.126	B	0.19148	0.024	T	0.45948	-0.9226	9	0.28530	T	0.3	8.3288	6.9184	0.24374	0.0:0.487:0.0:0.513	.	1029	Q5RHP9	CA173_HUMAN	L	1029	ENSP00000322609:V1029L	ENSP00000322609:V1029L	V	-	1	0	C1orf173	74810897	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.297000	0.08276	0.215000	0.20761	0.462000	0.41574	GTG		0.502	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			25	153	1	0	3.6726e-16	1	4.27514e-16	25	153				
WNT11	7481	broad.mit.edu	37	11	75902893	75902893	+	Missense_Mutation	SNP	C	C	T	rs374455490		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr11:75902893C>T	ENST00000322563.3	-	4	729	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	202					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGAGAGGCGCGCAGAGCCTG	0.672																																						ENST00000322563.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(604-606)cGc>cAc		wingless-type MMTV integration site family, member 11		C	HIS/ARG	0,4400		0,0,2200	41.0	39.0	40.0		605	4.5	1.0	11		40	1,8583	1.2+/-3.3	0,1,4291	no	missense	WNT11	NM_004626.2	29	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign	202/355	75902893	1,12983	2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75902893C>T	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.605G>A	11.37:g.75902893C>T	ENSP00000325526:p.Arg202His					RP11-619A14.2_ENST00000527314.1_RNA	p.R202H	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			4	729	-			202					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.605G>A	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430625	0.43122	0.0	1.16E-4	ENSG00000085741	ENST00000322563;ENST00000447195	T	0.76316	-1.01	5.42	4.5	0.54988	.	0.252493	0.40302	N	0.001139	T	0.65523	0.2699	L	0.42744	1.35	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.60662	-0.7219	10	0.30854	T	0.27	.	5.8151	0.18488	0.0:0.7524:0.0:0.2476	.	202	O96014	WNT11_HUMAN	H	202	ENSP00000325526:R202H	ENSP00000325526:R202H	R	-	2	0	WNT11	75580541	0.997000	0.39634	0.991000	0.47740	0.876000	0.50452	1.293000	0.33353	2.559000	0.86315	0.655000	0.94253	CGC		0.672	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		3	42	0	0	0	1	0	3	42				
C11orf87	399947	broad.mit.edu	37	11	109294474	109294474	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr11:109294474G>T	ENST00000327419.6	+	2	518	c.115G>T	c.(115-117)Ggc>Tgc	p.G39C	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	39						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCGCGGCCCAGGCGCAGTAGG	0.657																																						ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(115-117)Ggc>Tgc		chromosome 11 open reading frame 87							73.0	61.0	65.0					11																	109294474		2201	4298	6499	SO:0001583	missense	399947					integral to membrane		g.chr11:109294474G>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.115G>T	11.37:g.109294474G>T	ENSP00000331581:p.Gly39Cys					RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	p.G39C	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	518	+			39					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.115G>T	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738942	0.69304	.	.	ENSG00000185742	ENST00000327419	.	.	.	4.66	4.66	0.58398	.	0.000000	0.47455	U	0.000230	T	0.57607	0.2065	N	0.19112	0.55	0.33849	D	0.632403	D	0.89917	1.0	D	0.83275	0.996	T	0.70066	-0.4974	9	0.87932	D	0	.	13.415	0.60963	0.0:0.0:1.0:0.0	.	39	Q6NUJ2	CK087_HUMAN	C	39	.	ENSP00000331581:G39C	G	+	1	0	C11orf87	108799684	0.867000	0.29959	0.202000	0.23494	0.015000	0.08874	0.086000	0.14935	2.307000	0.77673	0.462000	0.41574	GGC		0.657	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		9	40	1	0	2.17888e-05	1	2.3025e-05	9	40				
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.H284R(1)	endometrium(1)																																																692099							g.chr3:75475639T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475639T>C								NR_024241.1						0	890	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.662	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		6	86	0	0	0	1	0	6	86				
BTN3A3	10384	broad.mit.edu	37	6	26452430	26452430	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:26452430A>G	ENST00000244519.2	+	11	1789	c.1546A>G	c.(1546-1548)Aaa>Gaa	p.K516E	BTN3A3_ENST00000361232.3_Missense_Mutation_p.K467E|BTN3A3_ENST00000339789.4_Missense_Mutation_p.K474E	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	516	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CCCAATACCAAAAGAAGTAGA	0.517																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1546-1548)Aaa>Gaa		butyrophilin, subfamily 3, member A3							75.0	75.0	75.0					6																	26452430		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26452430A>G	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1546A>G	6.37:g.26452430A>G	ENSP00000244519:p.Lys516Glu					BTN3A3_ENST00000339789.4_Missense_Mutation_p.K474E|BTN3A3_ENST00000361232.3_Missense_Mutation_p.K467E	p.K516E	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1789	+			516			B30.2/SPRY.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.1546A>G	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.663996	0.00772	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.35789	1.36;1.29;1.29	2.21	2.21	0.28008	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.05502	0.0145	N	0.16656	0.425	0.09310	N	1	B;B	0.30326	0.004;0.276	B;B	0.30855	0.001;0.121	T	0.39272	-0.9622	9	0.02654	T	1	.	6.6227	0.22812	1.0:0.0:0.0:0.0	.	467;516	E9PCP5;O00478	.;BT3A3_HUMAN	E	516;474;467	ENSP00000244519:K516E;ENSP00000344968:K474E;ENSP00000355238:K467E	ENSP00000244519:K516E	K	+	1	0	BTN3A3	26560409	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.314000	0.08092	0.949000	0.37715	0.374000	0.22700	AAA		0.517	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		15	111	0	0	0	1	0	15	111				
ZNF318	24149	broad.mit.edu	37	6	43323121	43323121	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:43323121G>A	ENST00000361428.2	-	4	2028	c.1951C>T	c.(1951-1953)Cgc>Tgc	p.R651C	ZNF318_ENST00000318149.3_Missense_Mutation_p.R651C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	651					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTGAGAAGCGGTGGTCAACT	0.537																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1951-1953)Cgc>Tgc		zinc finger protein 318							145.0	119.0	128.0					6																	43323121		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323121G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1951C>T	6.37:g.43323121G>A	ENSP00000354964:p.Arg651Cys					ZNF318_ENST00000318149.3_Missense_Mutation_p.R651C	p.R651C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2028	-			651					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1951C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	g	11.40	1.628988	0.28978	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.33865	1.39;2.51	1.9	1.01	0.19927	.	1.067460	0.07186	N	0.854837	T	0.09202	0.0227	N	0.19112	0.55	0.09310	N	1	B	0.22983	0.078	B	0.16722	0.016	T	0.37709	-0.9694	10	0.72032	D	0.01	0.5428	6.194	0.20540	0.1736:0.0:0.8264:0.0	.	651	Q5VUA4	ZN318_HUMAN	C	651	ENSP00000323032:R651C;ENSP00000354964:R651C	ENSP00000323032:R651C	R	-	1	0	ZNF318	43431099	0.053000	0.20554	0.002000	0.10522	0.892000	0.51952	0.702000	0.25631	0.357000	0.24183	0.655000	0.94253	CGC		0.537	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		10	110	0	0	0	1	0	10	110				
TMEM132D	121256	broad.mit.edu	37	12	129558470	129558470	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr12:129558470C>T	ENST00000422113.2	-	9	3576	c.3250G>A	c.(3250-3252)Gac>Aac	p.D1084N	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D622N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1084					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTTTGCAGTCCCCAGGGTCC	0.512																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(3250-3252)Gac>Aac		transmembrane protein 132D							197.0	171.0	180.0					12																	129558470		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558470C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3250G>A	12.37:g.129558470C>T	ENSP00000408581:p.Asp1084Asn					TMEM132D_ENST00000389441.4_Missense_Mutation_p.D622N	p.D1084N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3576	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1084					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3250G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737802	0.69304	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.12039	2.72;3.49	4.44	4.44	0.53790	.	0.952519	0.08709	N	0.905166	T	0.29158	0.0725	L	0.47716	1.5	0.26993	N	0.965099	B;D	0.55800	0.302;0.973	B;P	0.56434	0.109;0.798	T	0.30001	-0.9993	9	.	.	.	-4.0826	17.4202	0.87513	0.0:1.0:0.0:0.0	.	1084;622	Q14C87;Q14C87-2	T132D_HUMAN;.	N	622;1084	ENSP00000374092:D622N;ENSP00000408581:D1084N	.	D	-	1	0	TMEM132D	128124423	0.993000	0.37304	0.004000	0.12327	0.137000	0.21094	3.612000	0.54142	2.162000	0.67917	0.563000	0.77884	GAC		0.512	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		20	120	0	0	0	1	0	20	120				
MRPS5	64969	broad.mit.edu	37	2	95774025	95774025	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:95774025C>T	ENST00000272418.2	-	5	740	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	178					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CGGTCCCACTCTTCTCTCTGC	0.532																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(532-534)Gag>Aag		mitochondrial ribosomal protein S5							219.0	186.0	197.0					2																	95774025		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95774025C>T	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.532G>A	2.37:g.95774025C>T	ENSP00000272418:p.Glu178Lys						p.E178K	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			5	740	-			178					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.532G>A	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038396	0.75617	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.25	5.25	0.73442	.	0.101773	0.64402	D	0.000004	T	0.60405	0.2266	M	0.70595	2.14	0.80722	D	1	P;B	0.49253	0.921;0.105	B;B	0.42625	0.393;0.05	T	0.66292	-0.5960	9	0.51188	T	0.08	-34.8186	16.6902	0.85319	0.0:1.0:0.0:0.0	.	178;178	B4DIW8;P82675	.;RT05_HUMAN	K	178	.	ENSP00000272418:E178K	E	-	1	0	MRPS5	95137752	1.000000	0.71417	0.999000	0.59377	0.243000	0.25628	5.494000	0.66905	2.608000	0.88229	0.462000	0.41574	GAG		0.532	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		20	98	0	0	0	1	0	20	98				
DMPK	1760	broad.mit.edu	37	19	46281006	46281006	+	Silent	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:46281006G>A	ENST00000291270.4	-	7	926	c.801C>T	c.(799-801)ttC>ttT	p.F267F	DMPK_ENST00000600757.1_Silent_p.F277F|DMPK_ENST00000354227.5_Silent_p.F267F|DMPK_ENST00000458663.2_Silent_p.F267F|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000447742.2_Silent_p.F267F|DMPK_ENST00000343373.4_Silent_p.F277F	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TTTCATAGGCGAATACACCCA	0.632																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(829-831)ttC>ttT		dystrophia myotonica-protein kinase							81.0	93.0	89.0					19																	46281006		2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46281006G>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.801C>T	19.37:g.46281006G>A						DMPK_ENST00000447742.2_Silent_p.F267F|DMPK_ENST00000458663.2_Silent_p.F267F|DMPK_ENST00000343373.4_Silent_p.F277F|DMPK_ENST00000291270.4_Silent_p.F267F|DMPK_ENST00000354227.5_Silent_p.F267F	p.F277F			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	6	1518	-		Ovarian(192;0.0308)|all_neural(266;0.112)	277			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.831C>T	CCDS12674.1																																																																																				0.632	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		26	141	0	0	0	1	0	26	141				
QPRT	23475	broad.mit.edu	37	16	29706251	29706251	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr16:29706251G>A	ENST00000395384.4	+	2	441	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	94					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	CCGGGGCCCTGCCCACTGCCT	0.682																																						ENST00000395384.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(280-282)Gcc>Acc		quinolinate phosphoribosyltransferase	Niacin(DB00627)						31.0	35.0	34.0					16																	29706251		2196	4298	6494	SO:0001583	missense	23475				protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	g.chr16:29706251G>A	D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"""nicotinate-nucleotide pyrophosphorylase (carboxylating)"""	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.280G>A	16.37:g.29706251G>A	ENSP00000378782:p.Ala94Thr					QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron|AC009133.19_ENST00000449759.1_Missense_Mutation_p.132_132insL	p.A94T	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN			2	441	+			94					Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	ENST00000395384.4	37	c.280G>A	CCDS10651.1	.	.	.	.	.	.	.	.	.	.	.	19.35	3.810326	0.70797	.	.	ENSG00000103485	ENST00000449759;ENST00000395384	T	0.36878	1.23	4.75	3.78	0.43462	Quinolinate phosphoribosyl transferase, N-terminal (2);	0.070853	0.56097	D	0.000035	T	0.27629	0.0679	L	0.52266	1.64	0.80722	D	1	B	0.29590	0.25	B	0.23716	0.048	T	0.06320	-1.0833	10	0.29301	T	0.29	-29.1111	8.2245	0.31560	0.1086:0.0:0.8914:0.0	.	94	Q15274	NADC_HUMAN	T	94	ENSP00000378782:A94T	ENSP00000378782:A94T	A	+	1	0	QPRT	29613752	0.986000	0.35501	0.952000	0.39060	0.451000	0.32288	5.141000	0.64814	2.340000	0.79590	0.546000	0.68486	GCC		0.682	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2	NM_014298		8	72	0	0	0	1	0	8	72				
ZNF341	84905	broad.mit.edu	37	20	32379114	32379114	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr20:32379114G>A	ENST00000375200.1	+	15	2721	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.E779K|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	786					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCTGGTGCCCGAGGCTGTCCC	0.706																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(2356-2358)Gag>Aag		zinc finger protein 341							22.0	26.0	25.0					20																	32379114		2202	4296	6498	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32379114G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2356G>A	20.37:g.32379114G>A	ENSP00000364346:p.Glu786Lys					RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.E779K	p.E786K			Q9BYN7	ZN341_HUMAN			15	2721	+			786					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.2356G>A		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002815	0.35320	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.09538	3.21;2.97	5.06	4.09	0.47781	.	0.244102	0.28889	N	0.013814	T	0.05181	0.0138	N	0.24115	0.695	0.20074	N	0.999936	B;B;B;B	0.30605	0.003;0.287;0.008;0.013	B;B;B;B	0.16722	0.002;0.016;0.002;0.004	T	0.36817	-0.9732	10	0.07644	T	0.81	-25.0759	8.1431	0.31095	0.2302:0.0:0.7698:0.0	.	727;638;786;779	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	K	779;786	ENSP00000344308:E779K;ENSP00000364346:E786K	ENSP00000344308:E779K	E	+	1	0	ZNF341	31842775	1.000000	0.71417	0.927000	0.36925	0.108000	0.19459	4.175000	0.58263	2.521000	0.84997	0.491000	0.48974	GAG		0.706	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				7	41	0	0	0	1	0	7	41				
EPB41L3	23136	broad.mit.edu	37	18	5394709	5394709	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr18:5394709C>A	ENST00000341928.2	-	22	3577	c.3237G>T	c.(3235-3237)gaG>gaT	p.E1079D	EPB41L3_ENST00000400111.3_Missense_Mutation_p.E857D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E1079D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E857D|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E376D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E384D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1079	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGGTGTGATCTCTGTCTCTT	0.527																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3235-3237)gaG>gaT		erythrocyte membrane protein band 4.1-like 3							265.0	193.0	217.0					18																	5394709		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5394709C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3237G>T	18.37:g.5394709C>A	ENSP00000343158:p.Glu1079Asp					EPB41L3_ENST00000342933.3_Missense_Mutation_p.E1079D|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E857D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E857D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E376D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E384D	p.E1079D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			22	3577	-			1079			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3237G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510330	0.64522	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.82	3.81	0.43845	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	M	0.67569	2.06	0.58432	D	0.999995	D;D;D;D;B;D;P	0.76494	0.998;0.999;0.999;0.999;0.172;0.999;0.944	D;D;D;D;B;D;P	0.87578	0.986;0.997;0.987;0.994;0.226;0.998;0.824	T	0.81839	-0.0748	10	0.31617	T	0.26	.	7.1746	0.25736	0.0:0.5946:0.0:0.4054	.	376;384;471;748;857;1079;314	E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;E41L3_HUMAN;.	D	1079;748;748;376;384;1079;857	ENSP00000343158:E1079D;ENSP00000392195:E376D;ENSP00000442233:E384D;ENSP00000341138:E1079D;ENSP00000382981:E857D	ENSP00000343158:E1079D	E	-	3	2	EPB41L3	5384709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.155000	0.50700	0.639000	0.30564	0.655000	0.94253	GAG		0.527	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		17	103	1	0	4.75885e-15	1	5.49665e-15	17	103				
GLYATL1	92292	broad.mit.edu	37	11	58723306	58723306	+	Nonsense_Mutation	SNP	C	C	T	rs368914972		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr11:58723306C>T	ENST00000317391.4	+	8	1055	c.715C>T	c.(715-717)Cga>Tga	p.R239*	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Nonsense_Mutation_p.R270*|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	239						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGAAAAATACCGAAGGACAGG	0.483																																						ENST00000300079.5																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(808-810)Cga>Tga		glycine-N-acyltransferase-like 1	Glycine(DB00145)	C	stop/ARG,stop/ARG,stop/ARG	0,4402		0,0,2201	75.0	68.0	70.0		715,715,808	2.4	0.0	11		70	1,8589		0,1,4294	no	stop-gained,stop-gained,stop-gained	GLYATL1	NM_001220494.1,NM_001220496.1,NM_080661.3	,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,	239/303,239/303,270/334	58723306	1,12991	2201	4295	6496	SO:0001587	stop_gained	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723306C>T	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.715C>T	11.37:g.58723306C>T	ENSP00000322223:p.Arg239*					RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Nonsense_Mutation_p.R239*	p.R270*	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			7	858	+			239					A6NDT0|Q7Z510|Q8NAW8	Nonsense_Mutation	SNP	ENST00000317391.4	37	c.808C>T	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.230086	0.79688	0.0	1.16E-4	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	.	.	.	2.4	2.4	0.29515	.	0.352416	0.21999	U	0.066029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9547	0.30035	0.0:1.0:0.0:0.0	.	.	.	.	X	216;239;270	.	ENSP00000300079:R270X	R	+	1	2	GLYATL1	58479882	0.001000	0.12720	0.005000	0.12908	0.050000	0.14768	0.210000	0.17455	1.144000	0.42321	0.411000	0.27672	CGA		0.483	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		9	116	0	0	0	1	0	9	116				
LRRC16A	55604	broad.mit.edu	37	6	25600788	25600788	+	Silent	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:25600788G>C	ENST00000329474.6	+	33	3734	c.3366G>C	c.(3364-3366)cgG>cgC	p.R1122R		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1122					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATTCTGAACGGATAGAGGAGA	0.537																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3364-3366)cgG>cgC		leucine rich repeat containing 16A							60.0	62.0	61.0					6																	25600788		1966	4149	6115	SO:0001819	synonymous_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25600788G>C	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3366G>C	6.37:g.25600788G>C							p.R1122R	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			33	3734	+			1122					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	c.3366G>C	CCDS54973.1																																																																																				0.537	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		14	70	0	0	0	1	0	14	70				
ZNF43	7594	broad.mit.edu	37	19	21991630	21991630	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:21991630A>T	ENST00000354959.4	-	4	1378	c.1209T>A	c.(1207-1209)tgT>tgA	p.C403*	ZNF43_ENST00000595461.1_Nonsense_Mutation_p.C397*|ZNF43_ENST00000598381.1_Nonsense_Mutation_p.C397*|ZNF43_ENST00000594012.1_Nonsense_Mutation_p.C397*	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	403					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAGCTTTGCCACATTCTTCAC	0.363																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1189-1191)tgT>tgA		zinc finger protein 43							60.0	65.0	63.0					19																	21991630		2201	4300	6501	SO:0001587	stop_gained	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991630A>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1209T>A	19.37:g.21991630A>T	ENSP00000347045:p.Cys403*					ZNF43_ENST00000354959.4_Nonsense_Mutation_p.C403*|ZNF43_ENST00000595461.1_Nonsense_Mutation_p.C397*|ZNF43_ENST00000598381.1_Nonsense_Mutation_p.C397*	p.C397*	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1705	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	403					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Nonsense_Mutation	SNP	ENST00000354959.4	37	c.1191T>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175659	0.57692	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	.	.	.	1.75	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2732	0.31857	1.0:0.0:0.0:0.0	.	.	.	.	X	402;403	.	ENSP00000347045:C403X	C	-	3	2	ZNF43	21783470	1.000000	0.71417	0.103000	0.21229	0.156000	0.22039	1.872000	0.39549	0.805000	0.34159	0.248000	0.18094	TGT		0.363	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		9	70	0	0	0	1	0	9	70				
ZNF318	24149	broad.mit.edu	37	6	43323141	43323141	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:43323141T>C	ENST00000361428.2	-	4	2008	c.1931A>G	c.(1930-1932)cAc>cGc	p.H644R	ZNF318_ENST00000318149.3_Missense_Mutation_p.H644R	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	644					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGAGGAACAGTGGTCAGCTGA	0.547																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1930-1932)cAc>cGc		zinc finger protein 318							144.0	121.0	129.0					6																	43323141		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323141T>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1931A>G	6.37:g.43323141T>C	ENSP00000354964:p.His644Arg					ZNF318_ENST00000318149.3_Missense_Mutation_p.H644R	p.H644R	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2008	-			644					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1931A>G	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.229203	0.00280	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.26810	1.71;2.93	4.14	1.24	0.21308	.	0.239740	0.32386	N	0.006167	T	0.01421	0.0046	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40757	-0.9546	10	0.02654	T	1	-0.0226	1.6326	0.02735	0.2316:0.3935:0.2084:0.1665	.	644	Q5VUA4	ZN318_HUMAN	R	644	ENSP00000323032:H644R;ENSP00000354964:H644R	ENSP00000323032:H644R	H	-	2	0	ZNF318	43431119	.	.	0.292000	0.24919	0.975000	0.68041	.	.	0.239000	0.21243	-0.132000	0.14878	CAC		0.547	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		16	109	0	0	0	1	0	16	109				
OPN5	221391	broad.mit.edu	37	6	47762987	47762987	+	Silent	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:47762987C>T	ENST00000371211.2	+	4	472	c.444C>T	c.(442-444)caC>caT	p.H148H	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Silent_p.H148H|OPN5_ENST00000489301.2_Silent_p.H148H	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	148					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAAGAAAGCACGCCTACATCT	0.547																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(442-444)caC>caT		opsin 5							41.0	37.0	38.0					6																	47762987		2203	4300	6503	SO:0001819	synonymous_variant	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47762987C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.444C>T	6.37:g.47762987C>T						OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Silent_p.H148H|OPN5_ENST00000393699.2_Silent_p.H148H	p.H148H			Q6U736	OPN5_HUMAN			4	529	+			148					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	ENST00000371211.2	37	c.444C>T	CCDS4923.1																																																																																				0.547	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		6	33	0	0	0	1	0	6	33				
DUOX2	50506	broad.mit.edu	37	15	45401151	45401151	+	Splice_Site	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr15:45401151C>A	ENST00000603300.1	-	12	1437		c.e12-1		DUOX2_ENST00000389039.6_Splice_Site	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2						adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGCCAGTAATCTGAAGAGGAG	0.542																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.e12-1		dual oxidase 2							43.0	47.0	45.0					15																	45401151		2198	4298	6496	SO:0001630	splice_region_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45401151C>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1235-1G>T	15.37:g.45401151C>A						DUOX2_ENST00000603300.1_Splice_Site				Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	12	1620	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)						A8MQ13|D2XI64|Q9NR02|Q9UHF9	Splice_Site	SNP	ENST00000603300.1	37		CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318092	0.81469	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1107	0.86674	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DUOX2	43188443	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.157000	0.77461	2.380000	0.81148	0.467000	0.42956	.		0.542	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	Intron	10	39	1	0	0.000442599	1	0.000464418	10	39				
DNAAF1	123872	broad.mit.edu	37	16	84208329	84208329	+	Splice_Site	SNP	G	G	C	rs139519641	byFrequency	TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr16:84208329G>C	ENST00000378553.5	+	10	1822		c.e10+1		DNAAF1_ENST00000563818.1_Splice_Site	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1						axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGAAGACCAGGTTAAGGTCAT	0.453											OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.e10+1		dynein, axonemal, assembly factor 1							167.0	126.0	140.0					16																	84208329		2200	4300	6500	SO:0001630	splice_region_variant	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84208329G>C	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1698+1G>C	16.37:g.84208329G>C			OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1227	DNAAF1_ENST00000563818.1_Splice_Site		NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			10	1822	+								B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Splice_Site	SNP	ENST00000378553.5	37		CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	7.012	0.556981	0.13436	.	.	ENSG00000154099	ENST00000378553	.	.	.	5.08	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9562	0.24572	0.0931:0.3378:0.5691:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAAF1	82765830	.	.	0.001000	0.08648	0.003000	0.03518	.	.	0.381000	0.24851	0.655000	0.94253	.		0.453	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	Intron	6	60	0	0	0	1	0	6	60				
BZRAP1	9256	broad.mit.edu	37	17	56385249	56385249	+	Silent	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr17:56385249G>C	ENST00000343736.4	-	23	4948	c.4785C>G	c.(4783-4785)ccC>ccG	p.P1595P	BZRAP1_ENST00000268893.6_Silent_p.P1535P|BZRAP1_ENST00000355701.3_Silent_p.P1595P			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1595						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCTCTTCTGGGGGCCCCTCC	0.622																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4783-4785)ccC>ccG		benzodiazapine receptor (peripheral) associated protein 1							53.0	47.0	49.0					17																	56385249		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56385249G>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4785C>G	17.37:g.56385249G>C						BZRAP1_ENST00000343736.4_Silent_p.P1595P|BZRAP1_ENST00000268893.6_Silent_p.P1535P	p.P1595P	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			23	5655	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1595					O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.4785C>G	CCDS11605.1																																																																																				0.622	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		7	34	0	0	0	1	0	7	34				
MAP3K19	80122	broad.mit.edu	37	2	135763005	135763005	+	Splice_Site	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:135763005C>T	ENST00000375845.3	-	3	265	c.235G>A	c.(235-237)Ggt>Agt	p.G79S	MAP3K19_ENST00000375844.3_Splice_Site_p.G79S|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Splice_Site_p.G79S|MAP3K19_ENST00000358371.4_Splice_Site_p.E79K|MAP3K19_ENST00000392918.3_Splice_Site_p.G79S|MAP3K19_ENST00000392915.1_Splice_Site_p.G96S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	79							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										AGCCCAGTACCTTCTGTCCTG	0.438																																						ENST00000375845.3																			0											c.e3+1		mitogen-activated protein kinase kinase kinase 19							152.0	137.0	142.0					2																	135763005		2203	4300	6503	SO:0001630	splice_region_variant	80122							g.chr2:135763005C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.235+1G>A	2.37:g.135763005C>T						MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Splice_Site_p.G96_splice|MAP3K19_ENST00000392917.3_Splice_Site_p.G79_splice|MAP3K19_ENST00000392918.3_Splice_Site_p.G79_splice|MAP3K19_ENST00000358371.4_Splice_Site_p.E79_splice|MAP3K19_ENST00000375844.3_Splice_Site_p.G79_splice	p.G79_splice	NM_025052.3	NP_079328.3					3	265	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Splice_Site	SNP	ENST00000375845.3	37	c.235_splice	CCDS2176.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598502|3.598502	0.66332|0.66332	.|.	.|.	ENSG00000176601|ENSG00000176601	ENST00000358371|ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952	T|T;D;T;T;T	0.71817|0.81821	-0.6|-1.44;-1.54;-0.97;-0.69;0.89	5.08|5.08	4.21|4.21	0.49690|0.49690	.|.	.|0.146062	.|0.31859	.|N	.|0.006957	D|D	0.86961|0.86961	0.6059|0.6059	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	B|D;D;D;D;D;D	0.30146|0.89917	0.27|0.99;1.0;0.994;0.999;1.0;1.0	B|D;D;D;D;D;D	0.28849|0.91635	0.095|0.929;0.991;0.968;0.987;0.999;0.96	D|D	0.86371|0.86371	0.1723|0.1723	8|9	.|.	.|.	.|.	.|.	9.377|9.377	0.38290|0.38290	0.0:0.9039:0.0:0.0961|0.0:0.9039:0.0:0.0961	.|.	79|79;79;79;96;79;79	Q56UN5-3|B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.|.;.;.;.;.;YSK4_HUMAN	K|S	79|79;79;79;79;96;51	ENSP00000351140:E79K|ENSP00000365005:G79S;ENSP00000365004:G79S;ENSP00000376650:G79S;ENSP00000376649:G79S;ENSP00000376647:G96S	.|.	E|G	-|-	1|1	0|0	YSK4|YSK4	135479475|135479475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.541000|0.541000	0.35023|0.35023	3.237000|3.237000	0.51344|0.51344	1.513000|1.513000	0.48852|0.48852	0.462000|0.462000	0.41574|0.41574	GAG|GGT		0.438	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	Missense_Mutation	9	54	0	0	0	1	0	9	54				
TRPA1	8989	broad.mit.edu	37	8	72967823	72967823	+	Silent	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr8:72967823G>T	ENST00000262209.4	-	12	1584	c.1377C>A	c.(1375-1377)atC>atA	p.I459I	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	459					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GACAGGTATTGATACGCCCAT	0.403																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1375-1377)atC>atA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						48.0	50.0	49.0					8																	72967823		2202	4294	6496	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72967823G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1377C>A	8.37:g.72967823G>T						RP11-383H13.1_ENST00000457356.4_3'UTR	p.I459I	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		12	1584	-			459					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1377C>A	CCDS34908.1																																																																																				0.403	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		26	107	1	0	3.1745e-13	1	3.61069e-13	26	107				
SLC36A2	153201	broad.mit.edu	37	5	150723748	150723748	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:150723748G>A	ENST00000335244.4	-	2	374	c.245C>T	c.(244-246)gCg>gTg	p.A82V	SLC36A2_ENST00000521967.1_Missense_Mutation_p.A82V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	82					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CAGGATGCCCGCGTTCTTCAC	0.547																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(244-246)gCg>gTg		solute carrier family 36 (proton/amino acid symporter), member 2							84.0	74.0	77.0					5																	150723748		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150723748G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.245C>T	5.37:g.150723748G>A	ENSP00000334223:p.Ala82Val					SLC36A2_ENST00000521967.1_Missense_Mutation_p.A82V	p.A82V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	374	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	82					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.245C>T	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063754	0.93898	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.02446	4.29;4.29	5.07	5.07	0.68467	.	0.100552	0.64402	D	0.000002	T	0.22166	0.0534	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.87578	0.998;0.998;0.917	T	0.02398	-1.1165	10	0.87932	D	0	-7.168	16.7823	0.85566	0.0:0.0:1.0:0.0	.	82;82;82	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	V	82	ENSP00000334223:A82V;ENSP00000430535:A82V	ENSP00000334223:A82V	A	-	2	0	SLC36A2	150703941	1.000000	0.71417	0.783000	0.31826	0.836000	0.47400	6.735000	0.74806	2.788000	0.95919	0.650000	0.86243	GCG		0.547	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			6	26	0	0	0	1	0	6	26				
ILF3	3609	broad.mit.edu	37	19	10793234	10793234	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:10793234C>G	ENST00000590261.1	+	12	1402	c.1402C>G	c.(1402-1404)Ccg>Gcg	p.P468A	ILF3_ENST00000588657.1_Missense_Mutation_p.P468A|ILF3_ENST00000250241.8_Missense_Mutation_p.P468A|ILF3_ENST00000420083.1_Missense_Mutation_p.P468A|ILF3_ENST00000407004.3_Missense_Mutation_p.P468A|ILF3_ENST00000449870.1_Missense_Mutation_p.P468A|ILF3_ENST00000318511.3_Missense_Mutation_p.P468A|ILF3_ENST00000592763.1_Missense_Mutation_p.P468A|ILF3_ENST00000589998.1_Missense_Mutation_p.P468A			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	468					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CATGGGCTTGCCGACGGGTGC	0.652																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1402-1404)Ccg>Gcg		interleukin enhancer binding factor 3, 90kDa							45.0	43.0	44.0					19																	10793234		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10793234C>G	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1402C>G	19.37:g.10793234C>G	ENSP00000468156:p.Pro468Ala					ILF3_ENST00000318511.3_Missense_Mutation_p.P468A|ILF3_ENST00000420083.1_Missense_Mutation_p.P468A|ILF3_ENST00000588657.1_Missense_Mutation_p.P468A|ILF3_ENST00000589998.1_Missense_Mutation_p.P468A|ILF3_ENST00000592763.1_Missense_Mutation_p.P468A|ILF3_ENST00000590261.1_Missense_Mutation_p.P468A|ILF3_ENST00000407004.3_Missense_Mutation_p.P468A|ILF3_ENST00000250241.8_Missense_Mutation_p.P468A	p.P468A	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		13	1719	+			468					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1402C>G	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442790	0.63067	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.17054	2.3;2.3;2.32;2.32;2.32	5.33	5.33	0.75918	.	0.125147	0.53938	D	0.000044	T	0.16769	0.0403	L	0.36672	1.1	0.42614	D	0.993327	B;B;B;B;B;B	0.31931	0.154;0.347;0.236;0.319;0.081;0.208	B;B;B;B;B;B	0.30782	0.032;0.12;0.056;0.111;0.034;0.038	T	0.02950	-1.1090	10	0.87932	D	0	.	16.2947	0.82765	0.0:1.0:0.0:0.0	.	468;468;468;468;468;468	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	A	468	ENSP00000404121:P468A;ENSP00000315205:P468A;ENSP00000405436:P468A;ENSP00000384660:P468A;ENSP00000250241:P468A	ENSP00000250241:P468A	P	+	1	0	ILF3	10654234	1.000000	0.71417	0.885000	0.34714	0.939000	0.58152	5.132000	0.64758	2.656000	0.90262	0.655000	0.94253	CCG		0.652	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			4	53	0	0	0	1	0	4	53				
KANSL1L	151050	broad.mit.edu	37	2	211019032	211019032	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:211019032T>A	ENST00000281772.9	-	2	538	c.275A>T	c.(274-276)cAc>cTc	p.H92L	KANSL1L_ENST00000457374.1_Missense_Mutation_p.H92L|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000418791.1_Missense_Mutation_p.H92L|KANSL1L_ENST00000452086.1_Missense_Mutation_p.H92L	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	92						histone acetyltransferase complex (GO:0000123)											ATTCTCATTGTGTTTATTTAA	0.308																																						ENST00000281772.9																			0											c.(274-276)cAc>cTc		KAT8 regulatory NSL complex subunit 1-like							83.0	84.0	84.0					2																	211019032		2200	4300	6500	SO:0001583	missense	151050							g.chr2:211019032T>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.275A>T	2.37:g.211019032T>A	ENSP00000281772:p.His92Leu					KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Missense_Mutation_p.H92L|KANSL1L_ENST00000452086.1_Missense_Mutation_p.H92L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.H92L	p.H92L	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			2	538	-			92					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.275A>T	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268665	0.23136	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.85	5.85	0.93711	.	0.443007	0.22451	N	0.059890	T	0.27419	0.0673	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.19200	0.034;0.009;0.004;0.004	B;B;B;B	0.15870	0.014;0.014;0.008;0.008	T	0.15607	-1.0431	9	0.40728	T	0.16	.	12.1252	0.53913	0.0:0.0:0.143:0.857	.	92;92;92;92	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	L	92	.	ENSP00000281772:H92L	H	-	2	0	C2orf67	210727277	0.981000	0.34729	0.998000	0.56505	0.809000	0.45718	2.741000	0.47426	2.235000	0.73313	0.460000	0.39030	CAC		0.308	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		11	123	0	0	0	1	0	11	123				
TNR	7143	broad.mit.edu	37	1	175372559	175372559	+	Silent	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:175372559G>A	ENST00000367674.2	-	4	1401	c.693C>T	c.(691-693)tcC>tcT	p.S231S	TNR_ENST00000263525.2_Silent_p.S231S			Q92752	TENR_HUMAN	tenascin R	231	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCGGAGTTCGGAACAGTCAT	0.637																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(691-693)tcC>tcT		tenascin R							102.0	96.0	98.0					1																	175372559		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372559G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.693C>T	1.37:g.175372559G>A						TNR_ENST00000263525.2_Silent_p.S231S	p.S231S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			4	1401	-	Renal(580;0.146)		231			Cys-rich.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.693C>T	CCDS1318.1																																																																																				0.637	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	125	0	0	0	1	0	19	125				
RUSC2	9853	broad.mit.edu	37	9	35546716	35546716	+	Silent	SNP	A	A	G	rs572264282		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr9:35546716A>G	ENST00000455600.1	+	2	767	c.198A>G	c.(196-198)ctA>ctG	p.L66L	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	66						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACTCCCTGCTATTCAGCAGCC	0.587													A|||	1	0.000199681	0.0	0.0	5008	,	,		22489	0.001		0.0	False		,,,				2504	0.0					ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(196-198)ctA>ctG		RUN and SH3 domain containing 2							71.0	66.0	67.0					9																	35546716		2203	4300	6503	SO:0001819	synonymous_variant	9853					cytosol		g.chr9:35546716A>G	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.198A>G	9.37:g.35546716A>G						RUSC2_ENST00000468041.1_3'UTR	p.L66L	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	767	+			66					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	c.198A>G	CCDS35008.1																																																																																				0.587	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		11	58	0	0	0	1	0	11	58				
CHEK2	11200	broad.mit.edu	37	22	29130641	29130641	+	Silent	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr22:29130641G>T	ENST00000405598.1	-	3	260	c.69C>A	c.(67-69)ggC>ggA	p.G23G	CHEK2_ENST00000382578.1_Silent_p.G23G|CHEK2_ENST00000382566.1_Silent_p.G23G|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000404276.1_Silent_p.G23G|CHEK2_ENST00000403642.1_Silent_p.G23G|CHEK2_ENST00000328354.6_Silent_p.G23G|CHEK2_ENST00000402731.1_Silent_p.G23G|CHEK2_ENST00000382565.1_Silent_p.G23G|CHEK2_ENST00000382580.2_Silent_p.G23G|CHEK2_ENST00000348295.3_Silent_p.G23G			O96017	CHK2_HUMAN	checkpoint kinase 2	23					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGGTAACGCTGCCATGGGGCT	0.562			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000382580.2			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(67-69)ggC>ggA	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							126.0	105.0	112.0					22																	29130641		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29130641G>T	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.69C>A	22.37:g.29130641G>T						CHEK2_ENST00000382566.1_Silent_p.G23G|CHEK2_ENST00000405598.1_Silent_p.G23G|CHEK2_ENST00000382565.1_Silent_p.G23G|CHEK2_ENST00000403642.1_Silent_p.G23G|CHEK2_ENST00000328354.6_Silent_p.G23G|CHEK2_ENST00000402731.1_Silent_p.G23G|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000348295.3_Silent_p.G23G|CHEK2_ENST00000404276.1_Silent_p.G23G|CHEK2_ENST00000382578.1_Silent_p.G23G	p.G23G	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN			2	144	-			23					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.69C>A	CCDS13843.1																																																																																				0.562	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		32	79	1	0	8.4185e-14	1	9.6489e-14	32	79				
ABCC11	85320	broad.mit.edu	37	16	48232154	48232154	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr16:48232154C>A	ENST00000394747.1	-	15	2464	c.2115G>T	c.(2113-2115)ttG>ttT	p.L705F	ABCC11_ENST00000394748.1_Missense_Mutation_p.L705F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L705F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L705F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L705F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	705	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCCCATTTTCCAACAAAATGA	0.378																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(2113-2115)ttG>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							108.0	106.0	107.0					16																	48232154		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48232154C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2115G>T	16.37:g.48232154C>A	ENSP00000378230:p.Leu705Phe					ABCC11_ENST00000394748.1_Missense_Mutation_p.L705F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L705F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L705F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L705F	p.L705F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			15	2464	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	705			ABC transporter 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.2115G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165227	0.21538	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.69	-1.96	0.07525	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.173783	0.38111	N	0.001808	T	0.42154	0.1190	M	0.71581	2.175	0.37428	D	0.913904	B;P	0.45428	0.36;0.858	B;B	0.39590	0.139;0.304	T	0.40346	-0.9568	10	0.87932	D	0	-7.4229	3.9525	0.09375	0.397:0.3212:0.0:0.2818	.	705;705	Q96J66-2;Q96J66	.;ABCCB_HUMAN	F	705	ENSP00000311326:L705F;ENSP00000349017:L705F;ENSP00000378231:L705F;ENSP00000378230:L705F;ENSP00000438530:L705F	ENSP00000311326:L705F	L	-	3	2	ABCC11	46789655	0.033000	0.19621	0.767000	0.31495	0.095000	0.18619	-0.915000	0.04033	-0.416000	0.07473	-0.367000	0.07326	TTG		0.378	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		15	81	1	0	3.27435e-08	1	3.56116e-08	15	81				
PCDHGA5	56110	broad.mit.edu	37	5	140745430	140745430	+	Silent	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:140745430C>T	ENST00000518069.1	+	1	1533	c.1533C>T	c.(1531-1533)acC>acT	p.T511T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGACACCGGTGTCCTGT	0.557																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1531-1533)acC>acT									155.0	173.0	167.0					5																	140745430		2177	4282	6459	SO:0001819	synonymous_variant	56110							g.chr5:140745430C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1533C>T	5.37:g.140745430C>T						PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.T511T	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1533	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1533C>T	CCDS54925.1																																																																																				0.557	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		26	231	0	0	0	1	0	26	231				
KRT6A	3853	broad.mit.edu	37	12	52881537	52881537	+	Silent	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr12:52881537G>A	ENST00000330722.6	-	9	1730	c.1662C>T	c.(1660-1662)acC>acT	p.T554T		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	554	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGAGGAGGAGGTGGTGGTGT	0.597																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1660-1662)acC>acT		keratin 6A							89.0	94.0	92.0					12																	52881537		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52881537G>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1662C>T	12.37:g.52881537G>A							p.T554T	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1730	-			554			Tail.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1662C>T	CCDS41786.1																																																																																				0.597	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		17	119	0	0	0	1	0	17	119				
PTPRB	5787	broad.mit.edu	37	12	70946775	70946775	+	Silent	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr12:70946775C>T	ENST00000261266.5	-	19	4544	c.4515G>A	c.(4513-4515)caG>caA	p.Q1505Q	PTPRB_ENST00000334414.6_Silent_p.Q1723Q|PTPRB_ENST00000538708.1_Silent_p.Q1415Q|PTPRB_ENST00000550857.1_Silent_p.Q1415Q|PTPRB_ENST00000451516.2_Silent_p.Q1415Q|PTPRB_ENST00000550358.1_Silent_p.Q1635Q	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1505	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGGGTGCTGCTGTTCTGGCT	0.453																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5167-5169)caG>caA		protein tyrosine phosphatase, receptor type, B							162.0	161.0	161.0					12																	70946775		2005	4198	6203	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70946775C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4515G>A	12.37:g.70946775C>T						PTPRB_ENST00000261266.5_Silent_p.Q1505Q|PTPRB_ENST00000550857.1_Silent_p.Q1415Q|PTPRB_ENST00000550358.1_Silent_p.Q1635Q|PTPRB_ENST00000538708.1_Silent_p.Q1415Q|PTPRB_ENST00000451516.2_Silent_p.Q1415Q	p.Q1723Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		21	5213	-	Renal(347;0.236)		1505			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.5169G>A	CCDS44944.1																																																																																				0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			32	168	0	0	0	1	0	32	168				
SUGP1	57794	broad.mit.edu	37	19	19414163	19414163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:19414163G>A	ENST00000247001.5	-	6	1104	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	253					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CTACCTTTCTGAGAGGCTGCC	0.552																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(757-759)Cag>Tag		SURP and G patch domain containing 1							138.0	119.0	126.0					19																	19414163		2203	4300	6503	SO:0001587	stop_gained	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414163G>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.757C>T	19.37:g.19414163G>A	ENSP00000247001:p.Gln253*					SUGP1_ENST00000585763.1_5'UTR	p.Q253*	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			6	1104	-			253					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Nonsense_Mutation	SNP	ENST00000247001.5	37	c.757C>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626920	0.87560	.	.	ENSG00000105705	ENST00000247001	.	.	.	5.02	5.02	0.67125	.	0.431150	0.24949	N	0.034303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	15.0443	0.71816	0.0:0.0:1.0:0.0	.	.	.	.	X	253	.	ENSP00000247001:Q253X	Q	-	1	0	SUGP1	19275163	1.000000	0.71417	0.848000	0.33437	0.959000	0.62525	4.383000	0.59600	2.346000	0.79739	0.655000	0.94253	CAG		0.552	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		13	68	0	0	0	1	0	13	68				
LYSMD3	116068	broad.mit.edu	37	5	89815001	89815001	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:89815001C>A	ENST00000315948.6	-	3	700	c.556G>T	c.(556-558)Gta>Tta	p.V186L	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	186						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AAGGCCGATACTACCTCATTG	0.408																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(556-558)Gta>Tta		LysM, putative peptidoglycan-binding, domain containing 3							210.0	201.0	204.0					5																	89815001		1881	4116	5997	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815001C>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.556G>T	5.37:g.89815001C>A	ENSP00000314518:p.Val186Leu					LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	p.V186L	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	700	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	186					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.556G>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337808	0.81911	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.16597	2.33	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.09487	-1.0672	10	0.13470	T	0.59	-11.3351	19.8807	0.96899	0.0:1.0:0.0:0.0	.	186	Q7Z3D4	LYSM3_HUMAN	L	186	ENSP00000314518:V186L	ENSP00000314518:V186L	V	-	1	0	AC027323.1;LYSMD3	89850757	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	7.463000	0.80869	2.692000	0.91855	0.591000	0.81541	GTA		0.408	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		22	113	1	0	7.33628e-21	1	8.67544e-21	22	113				
RYR2	6262	broad.mit.edu	37	1	237713905	237713905	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:237713905A>G	ENST00000366574.2	+	27	3445	c.3128A>G	c.(3127-3129)aAg>aGg	p.K1043R	RYR2_ENST00000542537.1_Missense_Mutation_p.K1027R|RYR2_ENST00000360064.6_Missense_Mutation_p.K1041R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1043	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACCGAACCAAGAAATCCAAC	0.507																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3127-3129)aAg>aGg		ryanodine receptor 2 (cardiac)							116.0	109.0	111.0					1																	237713905		1925	4149	6074	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237713905A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3128A>G	1.37:g.237713905A>G	ENSP00000355533:p.Lys1043Arg					RYR2_ENST00000360064.6_Missense_Mutation_p.K1041R|RYR2_ENST00000542537.1_Missense_Mutation_p.K1027R	p.K1043R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		27	3445	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1043			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3128A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998827	0.74818	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.94232	-3.38;-3.38;-3.38	5.14	5.14	0.70334	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.56097	U	0.000028	D	0.92564	0.7638	M	0.69823	2.125	0.80722	D	1	B	0.25272	0.122	B	0.26416	0.069	D	0.91201	0.4991	10	0.62326	D	0.03	.	14.9606	0.71153	1.0:0.0:0.0:0.0	.	1043	Q92736	RYR2_HUMAN	R	1043;1041;1027	ENSP00000355533:K1043R;ENSP00000353174:K1041R;ENSP00000443798:K1027R	ENSP00000353174:K1041R	K	+	2	0	RYR2	235780528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	1.939000	0.56221	0.460000	0.39030	AAG		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	10	0	0	0	1	0	3	10				
JAKMIP1	152789	broad.mit.edu	37	4	6082016	6082016	+	Silent	SNP	C	C	T	rs150623866		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr4:6082016C>T	ENST00000282924.5	-	7	1610	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	JAKMIP1_ENST00000410077.2_Silent_p.A210A|JAKMIP1_ENST00000409831.1_Silent_p.A375A|JAKMIP1_ENST00000409371.3_Silent_p.A210A|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409021.3_Silent_p.A375A	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	375	Mediates interaction with TYK2 and GABBR1.		A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCAGAGACGCCTGCGCTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19780	0.001		0.0	False		,,,				2504	0.0					ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1123-1125)gcG>gcA		janus kinase and microtubule interacting protein 1		C	,	0,4406		0,0,2203	81.0	68.0	73.0		1125,1125	-3.3	0.1	4	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	JAKMIP1	NM_001099433.1,NM_144720.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	375/832,375/627	6082016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6082016C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1125G>A	4.37:g.6082016C>T						JAKMIP1_ENST00000282924.5_Silent_p.A375A|JAKMIP1_ENST00000409831.1_Silent_p.A375A|JAKMIP1_ENST00000409371.3_Silent_p.A210A|JAKMIP1_ENST00000410077.2_Silent_p.A210A|JAKMIP1_ENST00000457227.2_5'UTR	p.A375A	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			7	1574	-			375		A -> V (in a colorectal cancer sample; somatic mutation).	Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.1125G>A	CCDS3385.1																																																																																				0.577	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		4	35	0	0	0	1	0	4	35				
PDE8B	8622	broad.mit.edu	37	5	76708950	76708950	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:76708950T>A	ENST00000264917.5	+	17	1772	c.1727T>A	c.(1726-1728)cTg>cAg	p.L576Q	PDE8B_ENST00000505283.1_Missense_Mutation_p.L41Q|PDE8B_ENST00000340978.3_Missense_Mutation_p.L529Q|PDE8B_ENST00000333194.4_Missense_Mutation_p.L521Q|PDE8B_ENST00000342343.4_Missense_Mutation_p.L556Q|PDE8B_ENST00000346042.3_Missense_Mutation_p.L479Q	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	576					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TTGGTTTATCTGGGCTTAAAG	0.448																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1726-1728)cTg>cAg		phosphodiesterase 8B							177.0	173.0	174.0					5																	76708950		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76708950T>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1727T>A	5.37:g.76708950T>A	ENSP00000264917:p.Leu576Gln					PDE8B_ENST00000505283.1_Missense_Mutation_p.L41Q|PDE8B_ENST00000340978.3_Missense_Mutation_p.L529Q|PDE8B_ENST00000342343.4_Missense_Mutation_p.L556Q|PDE8B_ENST00000333194.4_Missense_Mutation_p.L521Q|PDE8B_ENST00000346042.3_Missense_Mutation_p.L479Q	p.L576Q	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	17	1772	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	576					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1727T>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280517	0.80692	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.7	5.7	0.88788	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.134911	0.50627	D	0.000109	D	0.88548	0.6466	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.996;0.997;0.997;0.994	D	0.90070	0.4162	10	0.87932	D	0	.	15.9558	0.79886	0.0:0.0:0.0:1.0	.	479;529;521;556;576	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	Q	529;479;576;556;521;41	ENSP00000345446:L529Q;ENSP00000330428:L479Q;ENSP00000264917:L576Q;ENSP00000345646:L556Q;ENSP00000331336:L521Q;ENSP00000423461:L41Q	ENSP00000264917:L576Q	L	+	2	0	PDE8B	76744706	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.994000	0.88315	2.173000	0.68751	0.459000	0.35465	CTG		0.448	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		12	135	0	0	0	1	0	12	135				
ERI1	90459	broad.mit.edu	37	8	8869081	8869081	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr8:8869081T>A	ENST00000523898.1	+	4	996	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	ERI1_ENST00000250263.7_Missense_Mutation_p.L106Q|ERI1_ENST00000519292.1_Missense_Mutation_p.L106Q			Q8IV48	ERI1_HUMAN	exoribonuclease 1	106	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						AAGAAGAGACTGAAAAACTAT	0.348																																						ENST00000523898.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(316-318)cTg>cAg		exoribonuclease 1	Adenosine monophosphate(DB00131)						65.0	66.0	66.0					8																	8869081		2203	4300	6503	SO:0001583	missense	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8869081T>A	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.317T>A	8.37:g.8869081T>A	ENSP00000429615:p.Leu106Gln					ERI1_ENST00000519292.1_Missense_Mutation_p.L106Q|ERI1_ENST00000250263.7_Missense_Mutation_p.L106Q	p.L106Q			Q8IV48	ERI1_HUMAN			4	996	+			106			SAP.		A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	c.317T>A	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220636	0.79464	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.56776	0.44;0.44;0.44	5.82	5.82	0.92795	DNA-binding SAP (3);	0.141542	0.49305	D	0.000160	T	0.72661	0.3488	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75950	-0.3137	10	0.72032	D	0.01	-17.6159	15.3651	0.74516	0.0:0.0:0.0:1.0	.	106	Q8IV48	ERI1_HUMAN	Q	106	ENSP00000429615:L106Q;ENSP00000250263:L106Q;ENSP00000430190:L106Q	ENSP00000250263:L106Q	L	+	2	0	ERI1	8906491	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.959000	0.87885	2.212000	0.71576	0.455000	0.32223	CTG		0.348	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		10	43	0	0	0	1	0	10	43				
ZNF154	7710	broad.mit.edu	37	19	58213858	58213858	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:58213858T>A	ENST00000512439.2	-	3	655	c.459A>T	c.(457-459)agA>agT	p.R153S	ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R153S|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	153					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)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGTGAGGGTTCTCTGCTGCT	0.448																																						ENST00000512439.2																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12						c.(457-459)agA>agT		zinc finger protein 154							310.0	306.0	307.0					19																	58213858		2126	4270	6396	SO:0001583	missense	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58213858T>A	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.459A>T	19.37:g.58213858T>A	ENSP00000421258:p.Arg153Ser					ZNF154_ENST00000426889.1_Missense_Mutation_p.R153S|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.R153S			Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	655	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	153					A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	c.459A>T	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.611679	0.28712	.	.	ENSG00000179909	ENST00000512439;ENST00000426889;ENST00000396157	T;T	0.33216	1.42;1.42	3.34	-2.77	0.05877	.	.	.	.	.	T	0.28267	0.0698	M	0.78344	2.41	0.09310	N	1	B	0.28783	0.222	B	0.15870	0.014	T	0.23119	-1.0197	9	0.72032	D	0.01	.	6.0809	0.19940	0.1651:0.5233:0.0:0.3117	.	153	Q13106	ZN154_HUMAN	S	153;153;24	ENSP00000421258:R153S;ENSP00000442370:R153S	ENSP00000440907:R24S	R	-	3	2	ZNF154	62905670	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-2.834000	0.00741	-0.763000	0.04658	-0.378000	0.06908	AGA		0.448	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			70	277	0	0	0	1	0	70	277				
SV2A	9900	broad.mit.edu	37	1	149877520	149877520	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:149877520C>T	ENST00000369146.3	-	12	2447	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SV2A_ENST00000369145.1_Missense_Mutation_p.A653T	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	653					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGAGCAGAGCGATCATGGCC	0.547																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(1957-1959)Gct>Act		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						142.0	121.0	128.0					1																	149877520		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149877520C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1957G>A	1.37:g.149877520C>T	ENSP00000358142:p.Ala653Thr					SV2A_ENST00000369145.1_Missense_Mutation_p.A653T	p.A653T	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		12	2447	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		653					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.1957G>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579672	0.86645	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.21932	1.98;1.98	4.04	4.04	0.47022	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.264125	0.36444	N	0.002584	T	0.14743	0.0356	L	0.28458	0.855	0.80722	D	1	P;D	0.61080	0.806;0.989	B;P	0.55303	0.435;0.773	T	0.03566	-1.1024	10	0.23891	T	0.37	-7.4132	13.7168	0.62702	0.0:1.0:0.0:0.0	.	105;653	B4E000;Q7L0J3	.;SV2A_HUMAN	T	653	ENSP00000358142:A653T;ENSP00000358141:A653T	ENSP00000358141:A653T	A	-	1	0	SV2A	148144144	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	7.484000	0.81180	2.084000	0.62774	0.297000	0.19635	GCT		0.547	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			28	125	0	0	0	1	0	28	125				
CCDC6	8030	broad.mit.edu	37	10	61592365	61592365	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr10:61592365T>C	ENST00000263102.6	-	3	731	c.500A>G	c.(499-501)cAg>cGg	p.Q167R		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	167	5 X 29 AA tandem repeats.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTGAAATTCCTGCTCTTGTTC	0.398			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(499-501)cAg>cGg		coiled-coil domain containing 6							175.0	154.0	161.0					10																	61592365		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61592365T>C	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.500A>G	10.37:g.61592365T>C	ENSP00000263102:p.Gln167Arg						p.Q167R	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	3	731	-			167			5 X 29 AA tandem repeats.		Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.500A>G	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.810026	0.90707	.	.	ENSG00000108091	ENST00000263102	D	0.83335	-1.71	5.95	5.95	0.96441	.	0.100784	0.64402	D	0.000001	D	0.90889	0.7137	M	0.78344	2.41	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	D	0.91589	0.5285	10	0.66056	D	0.02	-18.8968	16.0971	0.81132	0.0:0.0:0.0:1.0	.	167	Q16204	CCDC6_HUMAN	R	167	ENSP00000263102:Q167R	ENSP00000263102:Q167R	Q	-	2	0	CCDC6	61262371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.645000	0.83430	2.279000	0.76181	0.533000	0.62120	CAG		0.398	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		10	71	0	0	0	1	0	10	71				
GPR124	25960	broad.mit.edu	37	8	37696570	37696570	+	Missense_Mutation	SNP	G	G	A	rs139221615		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr8:37696570G>A	ENST00000412232.2	+	15	2369	c.2356G>A	c.(2356-2358)Gcc>Acc	p.A786T	GPR124_ENST00000315215.7_Missense_Mutation_p.A569T	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	786					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGCCTCTTCGCCACCATCAT	0.677																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1705-1707)Gcc>Acc		G protein-coupled receptor 124		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	50.0	43.0	46.0		2356	4.1	1.0	8	dbSNP_134	46	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GPR124	NM_032777.9	58	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	786/1339	37696570	4,13002	2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37696570G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2356G>A	8.37:g.37696570G>A	ENSP00000406367:p.Ala786Thr					GPR124_ENST00000412232.2_Missense_Mutation_p.A786T	p.A569T			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		12	2068	+			786					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1705G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828409	0.32329	2.27E-4	3.49E-4	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.41758	0.99;0.99	5.23	4.08	0.47627	GPCR, family 2-like (1);	0.122637	0.52532	D	0.000063	T	0.24509	0.0594	N	0.21373	0.66	0.30542	N	0.766343	B;B	0.11235	0.004;0.002	B;B	0.12156	0.004;0.007	T	0.15954	-1.0419	10	0.22109	T	0.4	-26.2674	5.6491	0.17606	0.28:0.0:0.1323:0.5876	.	569;786	Q96PE1-2;Q96PE1	.;GP124_HUMAN	T	779;569;786	ENSP00000323508:A569T;ENSP00000406367:A786T	ENSP00000323508:A569T	A	+	1	0	GPR124	37815728	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.437000	0.52863	0.843000	0.35070	-0.397000	0.06425	GCC		0.677	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			11	38	0	0	0	1	0	11	38				
BMP6	654	broad.mit.edu	37	6	7862723	7862723	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:7862723G>T	ENST00000283147.6	+	4	1355	c.1196G>T	c.(1195-1197)aGt>aTt	p.S399I		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	399					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGGGTCTCCAGTGCTTCAGGT	0.592																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(1195-1197)aGt>aTt		bone morphogenetic protein 6							47.0	44.0	45.0					6																	7862723		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7862723G>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1196G>T	6.37:g.7862723G>T	ENSP00000283147:p.Ser399Ile						p.S399I	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			4	1355	+	Ovarian(93;0.0721)		399					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.1196G>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	7.595	0.671607	0.14776	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.73897	-0.79	5.8	5.8	0.92144	Transforming growth factor-beta, C-terminal (1);	0.258863	0.43919	D	0.000507	T	0.61578	0.2358	L	0.54323	1.7	0.32035	N	0.599054	P	0.40376	0.715	B	0.40864	0.342	T	0.63088	-0.6715	10	0.24483	T	0.36	.	17.0314	0.86462	0.0:0.1267:0.8733:0.0	.	399	P22004	BMP6_HUMAN	I	321;399;362	ENSP00000283147:S399I	ENSP00000283147:S399I	S	+	2	0	BMP6	7807722	1.000000	0.71417	0.983000	0.44433	0.079000	0.17450	3.156000	0.50708	2.735000	0.93741	0.655000	0.94253	AGT		0.592	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		5	50	1	0	0.184627	1	0.185875	5	50				
MISP	126353	broad.mit.edu	37	19	758045	758045	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:758045C>T	ENST00000215582.6	+	2	1202	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	367					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGACCACCGGCGGGAGGGCCT	0.687																																						ENST00000215582.6																			0											c.(1099-1101)Cgg>Tgg		mitotic spindle positioning							11.0	14.0	13.0					19																	758045		2186	4288	6474	SO:0001583	missense	126353							g.chr19:758045C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1099C>T	19.37:g.758045C>T	ENSP00000215582:p.Arg367Trp						p.R367W	NM_173481.2	NP_775752.1					2	1202	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.1099C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457607	0.63401	.	.	ENSG00000099812	ENST00000215582	T	0.35973	1.28	3.98	2.9	0.33743	.	0.324738	0.25520	N	0.030112	T	0.52996	0.1769	M	0.64997	1.995	0.22779	N	0.998742	D	0.89917	1.0	D	0.87578	0.998	T	0.39643	-0.9604	10	0.87932	D	0	-19.688	9.4197	0.38544	0.4124:0.5876:0.0:0.0	.	367	Q8IVT2	CS021_HUMAN	W	367	ENSP00000215582:R367W	ENSP00000215582:R367W	R	+	1	2	C19orf21	709045	0.107000	0.21998	0.163000	0.22734	0.941000	0.58515	0.897000	0.28390	0.752000	0.32923	0.491000	0.48974	CGG		0.687	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		3	21	0	0	0	1	0	3	21				
CHML	1122	broad.mit.edu	37	1	241798408	241798408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:241798408G>A	ENST00000366553.1	-	1	824	c.661C>T	c.(661-663)Caa>Taa	p.Q221*	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	221					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTAACTATTTGAGAGTAAGTA	0.328																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(661-663)Caa>Taa		choroideremia-like (Rab escort protein 2)							137.0	142.0	140.0					1																	241798408		2202	4297	6499	SO:0001587	stop_gained	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798408G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.661C>T	1.37:g.241798408G>A	ENSP00000355511:p.Gln221*					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.Q221*	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	824	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	221					B2RAB9|Q17RE0|Q9H1Y4	Nonsense_Mutation	SNP	ENST00000366553.1	37	c.661C>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752260	0.69533	.	.	ENSG00000203668	ENST00000366553	.	.	.	4.86	3.94	0.45596	.	0.061993	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-9.4134	10.7748	0.46343	0.0:0.0:0.8108:0.1892	.	.	.	.	X	221	.	ENSP00000355511:Q221X	Q	-	1	0	CHML	239865031	0.998000	0.40836	0.657000	0.29651	0.176000	0.22953	1.739000	0.38217	1.409000	0.46915	-0.158000	0.13435	CAA		0.328	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		40	156	0	0	0	1	0	40	156				
GOLGB1	2804	broad.mit.edu	37	3	121396297	121396297	+	Splice_Site	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:121396297C>T	ENST00000340645.5	-	16	8984	c.8859G>A	c.(8857-8859)agG>agA	p.R2953R	GOLGB1_ENST00000393667.3_Splice_Site_p.R2958R	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2953					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTCTCCATCCTAGAAAAAA	0.413																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.e16-1		golgin B1							107.0	102.0	104.0					3																	121396297		2203	4300	6503	SO:0001630	splice_region_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121396297C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8859-1G>A	3.37:g.121396297C>T						GOLGB1_ENST00000340645.5_Splice_Site_p.R2953_splice	p.R2958_splice	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	16	8984	-			2953					B2ZZ91|D3DN92|E7EP74|Q14398	Splice_Site	SNP	ENST00000340645.5	37	c.8873_splice	CCDS3004.1																																																																																				0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	Silent	15	77	0	0	0	1	0	15	77				
NLRP3	114548	broad.mit.edu	37	1	247587832	247587832	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:247587832G>C	ENST00000336119.3	+	3	1833	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	NLRP3_ENST00000391827.2_Missense_Mutation_p.D363H|NLRP3_ENST00000391828.3_Missense_Mutation_p.D363H|NLRP3_ENST00000366496.2_Missense_Mutation_p.D363H|NLRP3_ENST00000366497.2_Missense_Mutation_p.D363H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.D363H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	363	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACTTGCTGGACCATCCTCG	0.552																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1087-1089)Gac>Cac		NLR family, pyrin domain containing 3							60.0	63.0	62.0					1																	247587832		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587832G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1087G>C	1.37:g.247587832G>C	ENSP00000337383:p.Asp363His					NLRP3_ENST00000391828.3_Missense_Mutation_p.D363H|NLRP3_ENST00000366496.2_Missense_Mutation_p.D363H|NLRP3_ENST00000391827.2_Missense_Mutation_p.D363H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.D363H|NLRP3_ENST00000348069.2_Missense_Mutation_p.D363H	p.D363H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1867	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	363			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1087G>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491667	0.44249	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.352724	0.24806	N	0.035459	D	0.82751	0.5105	L	0.38175	1.15	0.09310	N	1	B;B;P;P;P	0.51147	0.337;0.16;0.942;0.711;0.755	B;B;P;P;P	0.55824	0.271;0.177;0.785;0.605;0.726	T	0.74362	-0.3690	10	0.54805	T	0.06	.	11.5521	0.50726	0.0:0.0:1.0:0.0	.	363;363;363;363;363	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	363	ENSP00000375704:D363H;ENSP00000355453:D363H;ENSP00000337383:D363H;ENSP00000294752:D363H;ENSP00000355452:D363H;ENSP00000375703:D363H	ENSP00000337383:D363H	D	+	1	0	NLRP3	245654455	0.996000	0.38824	0.999000	0.59377	0.811000	0.45836	0.631000	0.24568	2.436000	0.82500	0.563000	0.77884	GAC		0.552	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		17	96	0	0	0	1	0	17	96				
RAB7A	7879	broad.mit.edu	37	3	128532230	128532230	+	Silent	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:128532230C>A	ENST00000265062.3	+	6	835	c.589C>A	c.(589-591)Cgg>Agg	p.R197R	RAB7A_ENST00000485280.1_Silent_p.R81R|RAB7A_ENST00000482525.1_Silent_p.R150R	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	197					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		CAAGAATGACCGGGCCAAGGC	0.507																																						ENST00000265062.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(589-591)Cgg>Agg		RAB7A, member RAS oncogene family							144.0	138.0	140.0					3																	128532230		2203	4300	6503	SO:0001819	synonymous_variant	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128532230C>A	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.589C>A	3.37:g.128532230C>A						RAB7A_ENST00000482525.1_Silent_p.R150R|RAB7A_ENST00000485280.1_Silent_p.R81R	p.R197R	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	6	835	+			197					A8K3V6|Q9NWJ0|Q9UPB0	Silent	SNP	ENST00000265062.3	37	c.589C>A	CCDS3052.1																																																																																				0.507	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			36	223	1	0	9.65963e-10	1	1.08217e-09	36	223				
S1PR3	1903	broad.mit.edu	37	9	91616168	91616168	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr9:91616168T>C	ENST00000375846.3	+	1	4748	c.53T>C	c.(52-54)cTg>cCg	p.L18P	S1PR3_ENST00000358157.2_Missense_Mutation_p.L18P			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	18					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AACGAGACCCTGCGGGAGCAT	0.637											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375846.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						c.(52-54)cTg>cCg		sphingosine-1-phosphate receptor 3							81.0	89.0	86.0					9																	91616168		2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616168T>C	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.53T>C	9.37:g.91616168T>C	ENSP00000365006:p.Leu18Pro		OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283	S1PR3_ENST00000358157.2_Missense_Mutation_p.L18P	p.L18P			Q99500	S1PR3_HUMAN			1	4748	+			18					Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.53T>C	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297699	0.60086	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.70045	-0.45;-0.45	5.1	5.1	0.69264	.	3.930710	0.00687	N	0.000702	T	0.70842	0.3270	L	0.50333	1.59	0.21933	N	0.99947	D	0.56521	0.976	P	0.48030	0.564	T	0.57075	-0.7873	10	0.87932	D	0	.	9.3215	0.37966	0.0:0.0804:0.0:0.9196	.	18	Q99500	S1PR3_HUMAN	P	18	ENSP00000350878:L18P;ENSP00000365006:L18P	ENSP00000350878:L18P	L	+	2	0	S1PR3	90805988	0.454000	0.25728	0.174000	0.22961	0.171000	0.22731	2.284000	0.43478	2.151000	0.67156	0.454000	0.30748	CTG		0.637	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		11	131	0	0	0	1	0	11	131				
MLLT4	4301	broad.mit.edu	37	6	168226593	168226593	+	5'Flank	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:168226593T>C	ENST00000447894.2	+	0	0				MLLT4_ENST00000392108.3_5'Flank|MLLT4_ENST00000366806.2_5'Flank|MLLT4_ENST00000392112.1_5'Flank|MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000400822.3_5'Flank|MLLT4_ENST00000344191.4_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGCTGAGCCTAGCACCGCCC	0.716			T	MLL	AL																																	ENST00000359760.5				Dom	yes		6	6q27	4301		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L					0																				65.0	85.0	78.0					6																	168226593		2025	4144	6169	SO:0001631	upstream_gene_variant	653483							g.chr6:168226593T>C	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168226593T>C	Exception_encountered							NR_027906.1						0	796	-								O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	ENST00000447894.2	37																																																																																						0.716	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		9	101	0	0	0	1	0	9	101				
TP53	7157	broad.mit.edu	37	17	7577111	7577111	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr17:7577111G>T	ENST00000269305.4	-	8	1016	c.827C>A	c.(826-828)gCc>gAc	p.A276D	TP53_ENST00000445888.2_Missense_Mutation_p.A276D|TP53_ENST00000359597.4_Missense_Mutation_p.A276D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.A276D|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.A276D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	276	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A276V(7)|p.A276D(6)|p.A276G(4)|p.?(2)|p.A276fs*69(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*70(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCCAGGACAGGCACAAACACG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		42	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(5)|Unknown(2)|Complex - frameshift(2)|Insertion - Frameshift(1)	p.0?(8)|p.A276V(7)|p.A276D(6)|p.A276G(4)|p.?(2)|p.A276fs*69(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*70(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(6)|central_nervous_system(6)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|bone(4)|stomach(3)|urinary_tract(2)|oesophagus(2)|skin(2)|prostate(2)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(826-828)gCc>gAc	Other conserved DNA damage response genes	tumor protein p53							72.0	62.0	65.0					17																	7577111		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577111G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.827C>A	17.37:g.7577111G>T	ENSP00000269305:p.Ala276Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.A276D|TP53_ENST00000445888.2_Missense_Mutation_p.A276D|TP53_ENST00000359597.4_Missense_Mutation_p.A276D|TP53_ENST00000269305.4_Missense_Mutation_p.A276D|TP53_ENST00000413465.2_Intron	p.A276D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	959	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	276		A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.827C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127398	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99863	-7.27;-7.27;-7.27;-7.27;-7.27;-7.27	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.77557	0.987;0.99;0.99;0.987	D	0.96378	0.9279	10	0.87932	D	0	-17.5913	15.662	0.77193	0.0:0.0:1.0:0.0	.	276;276;276;276	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	D	276;276;276;276;276;265;144	ENSP00000352610:A276D;ENSP00000269305:A276D;ENSP00000398846:A276D;ENSP00000391127:A276D;ENSP00000391478:A276D;ENSP00000425104:A144D	ENSP00000269305:A276D	A	-	2	0	TP53	7517836	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.573000	0.98181	2.556000	0.86216	0.462000	0.41574	GCC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	35	1	0	2.23348e-06	1	2.37707e-06	17	35				
OR8K5	219453	broad.mit.edu	37	11	55927156	55927156	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr11:55927156A>T	ENST00000313447.1	-	1	637	c.638T>A	c.(637-639)aTa>aAa	p.I213K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CACTAAGACTATCAGAAAGGA	0.378																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(637-639)aTa>aAa		olfactory receptor, family 8, subfamily K, member 5							67.0	68.0	68.0					11																	55927156		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927156A>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.638T>A	11.37:g.55927156A>T	ENSP00000323853:p.Ile213Lys						p.I213K	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	637	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	213					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.638T>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	A	5.297	0.240093	0.10023	.	.	ENSG00000181752	ENST00000313447	T	0.44881	0.91	3.46	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.130623	0.34932	N	0.003571	T	0.50120	0.1597	M	0.90977	3.165	0.09310	N	1	B	0.32467	0.372	B	0.39119	0.291	T	0.52845	-0.8521	10	0.87932	D	0	.	5.0775	0.14640	0.711:0.1837:0.1053:0.0	.	213	Q8NH50	OR8K5_HUMAN	K	213	ENSP00000323853:I213K	ENSP00000323853:I213K	I	-	2	0	OR8K5	55683732	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	0.425000	0.21346	0.217000	0.20800	-0.506000	0.04501	ATA		0.378	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		13	105	0	0	0	1	0	13	105				
KMT2B	9757	broad.mit.edu	37	19	36216487	36216487	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:36216487A>T	ENST00000222270.7	+	12	3750	c.3750A>T	c.(3748-3750)aaA>aaT	p.K1250N	KMT2B_ENST00000420124.1_Missense_Mutation_p.K1250N|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1250					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTCGCTGCAAATTCTGCCACG	0.637																																						ENST00000222270.7																			0											c.(3748-3750)aaA>aaT									103.0	113.0	109.0					19																	36216487		2094	4202	6296	SO:0001583	missense	9757							g.chr19:36216487A>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3750A>T	19.37:g.36216487A>T	ENSP00000222270:p.Lys1250Asn					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.K1250N	p.K1250N	NM_014727.1	NP_055542.1					12	3750	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3750A>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118372	0.37339	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.98926	-5.24;-5.24	5.54	-0.224	0.13115	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.47093	D	0.000257	D	0.98036	0.9353	L	0.59436	1.845	0.46028	D	0.998827	D	0.71674	0.998	P	0.59948	0.866	D	0.96457	0.9338	10	0.66056	D	0.02	.	9.2839	0.37744	0.5862:0.0:0.4138:0.0	.	1250	Q9UMN6	MLL4_HUMAN	N	1250	ENSP00000222270:K1250N;ENSP00000398837:K1250N	ENSP00000222270:K1250N	K	+	3	2	AD000671.1	40908327	0.998000	0.40836	0.996000	0.52242	0.979000	0.70002	0.464000	0.21988	-0.064000	0.13043	-0.763000	0.03452	AAA		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		30	152	0	0	0	1	0	30	152				
SEC22A	26984	broad.mit.edu	37	3	122944059	122944059	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:122944059A>C	ENST00000309934.4	+	3	1352	c.456A>C	c.(454-456)caA>caC	p.Q152H	SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Missense_Mutation_p.Q152H	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	152					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTCCTTATCAAATTTCCATGT	0.433																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(454-456)caA>caC		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							135.0	137.0	137.0					3																	122944059		2203	4300	6503	SO:0001583	missense	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122944059A>C	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.456A>C	3.37:g.122944059A>C	ENSP00000310521:p.Gln152His					SEC22A_ENST00000492595.1_Missense_Mutation_p.Q152H|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR	p.Q152H	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	3	1352	+			152					B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	c.456A>C	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	A	9.704	1.155143	0.21371	.	.	ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000487572;ENST00000309934	T;T;T;T	0.18502	2.21;2.21;2.22;2.21	4.65	2.2	0.27929	.	0.112699	0.64402	D	0.000008	T	0.12347	0.0300	L	0.53249	1.67	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.14364	-1.0475	10	0.14656	T	0.56	0.0873	3.7481	0.08556	0.5808:0.0:0.2675:0.1517	.	152	Q96IW7	SC22A_HUMAN	H	152	ENSP00000417972:Q152H;ENSP00000420343:Q152H;ENSP00000420015:Q152H;ENSP00000310521:Q152H	ENSP00000310521:Q152H	Q	+	3	2	SEC22A	124426749	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.555000	0.53727	0.356000	0.24157	0.533000	0.62120	CAA		0.433	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		20	153	0	0	0	1	0	20	153				
AHNAK	79026	broad.mit.edu	37	11	62300566	62300566	+	Silent	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr11:62300566T>C	ENST00000378024.4	-	5	1597	c.1323A>G	c.(1321-1323)gtA>gtG	p.V441V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	441					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGCACCTGATACAGAGAACT	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1321-1323)gtA>gtG		AHNAK nucleoprotein							106.0	108.0	107.0					11																	62300566		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62300566T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1323A>G	11.37:g.62300566T>C						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V441V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	1597	-		Melanoma(852;0.155)	441					A1A586	Silent	SNP	ENST00000378024.4	37	c.1323A>G	CCDS31584.1																																																																																				0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	93	0	0	0	1	0	14	93				
VWA3B	200403	broad.mit.edu	37	2	98851130	98851130	+	Silent	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:98851130G>T	ENST00000477737.1	+	17	2532	c.2328G>T	c.(2326-2328)ctG>ctT	p.L776L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	776										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAACCAGCCTGCTCAGAAGCC	0.473																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2326-2328)ctG>ctT		von Willebrand factor A domain containing 3B							79.0	82.0	81.0					2																	98851130		1981	4162	6143	SO:0001819	synonymous_variant	200403							g.chr2:98851130G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2328G>T	2.37:g.98851130G>T							p.L776L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			17	2532	+			776					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.2328G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	3.673	-0.067165	0.07273	.	.	ENSG00000168658	ENST00000473149	.	.	.	5.0	-0.179	0.13299	.	.	.	.	.	T	0.50326	0.1609	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34304	-0.9834	4	.	.	.	.	4.9259	0.13892	0.2534:0.2836:0.463:0.0	.	.	.	.	S	187	.	.	A	+	1	0	VWA3B	98217562	0.957000	0.32711	0.991000	0.47740	0.498000	0.33706	-0.267000	0.08619	-0.266000	0.09339	-0.338000	0.08134	GCT		0.473	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		9	54	1	0	5.4927e-09	1	6.10756e-09	9	54				
LHX3	8022	broad.mit.edu	37	9	139089573	139089573	+	Silent	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr9:139089573C>T	ENST00000371748.5	-	6	888	c.792G>A	c.(790-792)gcG>gcA	p.A264A	LHX3_ENST00000371746.3_Silent_p.A269A	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	264					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GGCCCATTTCCGCCAAGGAAG	0.677																																						ENST00000371746.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(805-807)gcG>gcA		LIM homeobox 3							14.0	16.0	15.0					9																	139089573		2198	4298	6496	SO:0001819	synonymous_variant	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139089573C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.792G>A	9.37:g.139089573C>T						LHX3_ENST00000371748.5_Silent_p.A264A	p.A269A	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	6	925	-		Myeloproliferative disorder(178;0.0511)	264					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	ENST00000371748.5	37	c.807G>A	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	1.451	-0.565098	0.03939	.	.	ENSG00000107187	ENST00000325195	.	.	.	4.22	-8.45	0.00946	.	.	.	.	.	T	0.29524	0.0736	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31998	-0.9923	5	0.18710	T	0.47	.	1.0848	0.01650	0.3621:0.1049:0.2868:0.2462	.	.	.	.	Q	267	.	ENSP00000319224:R267Q	R	-	2	0	LHX3	138229394	0.000000	0.05858	0.005000	0.12908	0.038000	0.13279	-2.492000	0.00973	-1.818000	0.01218	-0.310000	0.09108	CGG		0.677	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			4	16	0	0	0	1	0	4	16				
ZNF30	90075	broad.mit.edu	37	19	35422786	35422786	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:35422786G>C	ENST00000601142.1	+	3	286	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.E17Q|ZNF30_ENST00000601957.1_Missense_Mutation_p.E17Q|ZNF30_ENST00000303586.7_Missense_Mutation_p.E17Q			P17039	ZNF30_HUMAN	zinc finger protein 30	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AGTGACATTTGAGGATGTGGC	0.453																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(49-51)Gag>Cag		zinc finger protein 30							83.0	87.0	86.0					19																	35422786		2139	4269	6408	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35422786G>C	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.49G>C	19.37:g.35422786G>C	ENSP00000469954:p.Glu17Gln					ZNF30_ENST00000601957.1_Missense_Mutation_p.E17Q|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.E17Q|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.E17Q	p.E17Q	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	3	493	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		17			KRAB.		A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.49G>C	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	G	2.174	-0.389271	0.04932	.	.	ENSG00000168661	ENST00000439785;ENST00000303586	T;T	0.02197	4.4;4.4	1.55	-3.11	0.05299	Krueppel-associated box (4);	.	.	.	.	T	0.01976	0.0062	L	0.38531	1.155	0.58432	D	0.999998	B;B	0.09022	0.001;0.002	B;B	0.11329	0.004;0.006	T	0.46456	-0.9190	9	0.34782	T	0.22	.	7.3847	0.26876	0.3338:0.0:0.6662:0.0	.	17;17	P17039-2;P17039	.;ZNF30_HUMAN	Q	17	ENSP00000403441:E17Q;ENSP00000303889:E17Q	ENSP00000303889:E17Q	E	+	1	0	ZNF30	40114626	0.124000	0.22315	0.769000	0.31535	0.639000	0.38242	-0.845000	0.04340	-1.252000	0.02491	-0.351000	0.07748	GAG		0.453	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		7	22	0	0	0	1	0	7	22				
UBR2	23304	broad.mit.edu	37	6	42630014	42630014	+	Splice_Site	SNP	A	A	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:42630014A>G	ENST00000372899.1	+	31	3793	c.3535A>G	c.(3535-3537)Agg>Ggg	p.R1179G	RNU6-890P_ENST00000384121.1_RNA|UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Splice_Site_p.R1179G	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1179					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTGTTGGCAAAGGTAATGTAT	0.333																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.e31+1		ubiquitin protein ligase E3 component n-recognin 2							158.0	146.0	150.0					6																	42630014		2203	4300	6503	SO:0001630	splice_region_variant	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42630014A>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3536+1A>G	6.37:g.42630014A>G						UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Splice_Site_p.R1179_splice	p.R1179_splice			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		31	3793	+	Colorectal(47;0.196)		1179					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Splice_Site	SNP	ENST00000372899.1	37	c.3536_splice	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495916	0.85069	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49139	0.79;0.79	5.16	5.16	0.70880	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.58680	0.2139	M	0.74647	2.275	0.80722	D	1	D;B	0.89917	1.0;0.23	D;B	0.87578	0.998;0.05	T	0.57452	-0.7809	10	0.25106	T	0.35	-11.3291	15.295	0.73898	1.0:0.0:0.0:0.0	.	1179;1179	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	G	1179	ENSP00000361990:R1179G;ENSP00000361992:R1179G	ENSP00000361990:R1179G	R	+	1	2	UBR2	42737992	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.950000	0.93019	2.086000	0.62901	0.379000	0.24179	AGG		0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	Missense_Mutation	41	115	0	0	0	1	0	41	115				
IRF2BP2	359948	broad.mit.edu	37	1	234743476	234743476	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:234743476T>C	ENST00000366609.3	-	2	1201	c.1171A>G	c.(1171-1173)Atg>Gtg	p.M391V	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.M375V|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GTAGGAGTCATGGGGATCTTG	0.612																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1171-1173)Atg>Gtg		interferon regulatory factor 2 binding protein 2							113.0	128.0	123.0					1																	234743476		2203	4300	6503	SO:0001583	missense	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743476T>C	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1171A>G	1.37:g.234743476T>C	ENSP00000355568:p.Met391Val					RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.M375V|IRF2BP2_ENST00000491430.1_5'UTR	p.M391V	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1201	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	391					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	c.1171A>G	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	T	4.604	0.112161	0.08831	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.30182	1.54;1.56	5.49	1.89	0.25635	.	0.250256	0.39407	N	0.001371	T	0.17534	0.0421	L	0.29908	0.895	0.22666	N	0.998879	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.18555	-1.0333	10	0.22706	T	0.39	0.1772	5.8391	0.18623	0.0:0.1452:0.2635:0.5913	.	391;375	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	V	375;391	ENSP00000355569:M375V;ENSP00000355568:M391V	ENSP00000355568:M391V	M	-	1	0	IRF2BP2	232810099	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.898000	0.28404	0.368000	0.24481	0.533000	0.62120	ATG		0.612	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		9	84	0	0	0	1	0	9	84				
C6	729	broad.mit.edu	37	5	41176735	41176735	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:41176735A>T	ENST00000263413.3	-	8	1274	c.1010T>A	c.(1009-1011)gTc>gAc	p.V337D	C6_ENST00000337836.5_Missense_Mutation_p.V337D|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	337	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCAAAAAGACATCAGAAAG	0.383																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1009-1011)gTc>gAc		complement component 6							130.0	128.0	129.0					5																	41176735		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41176735A>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1010T>A	5.37:g.41176735A>T	ENSP00000263413:p.Val337Asp					C6_ENST00000337836.5_Missense_Mutation_p.V337D|C6_ENST00000475349.1_5'UTR	p.V337D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			8	1274	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	337			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1010T>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341120	0.81911	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.82803	-1.65;-1.65	5.65	5.65	0.86999	Membrane attack complex component/perforin (MACPF) domain (3);	0.224774	0.46758	D	0.000275	D	0.86752	0.6008	L	0.58810	1.83	0.80722	D	1	D	0.58970	0.984	P	0.60286	0.872	T	0.83140	-0.0109	10	0.12103	T	0.63	-17.1258	16.0399	0.80667	1.0:0.0:0.0:0.0	.	337	P13671	CO6_HUMAN	D	337	ENSP00000338861:V337D;ENSP00000263413:V337D	ENSP00000263413:V337D	V	-	2	0	C6	41212492	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.196000	0.72094	2.371000	0.80710	0.533000	0.62120	GTC		0.383	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			18	82	0	0	0	1	0	18	82				
HCG17	414778	broad.mit.edu	37	6	30227442	30227442	+	lincRNA	SNP	T	T	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:30227442T>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CTGCTGCTCTTGGGGGCCCTG	0.706																																						ENST00000453558.1																			0																																																			414778							g.chr6:30227442T>G	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227442T>G						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.706	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		5	41	0	0	0	1	0	5	41				
B3GNT7	93010	broad.mit.edu	37	2	232262479	232262479	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:232262479G>A	ENST00000287590.5	+	2	310	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	AC017104.6_ENST00000415129.1_RNA|B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	17					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CCTGGCCCTGGCCCTGCTCGT	0.632																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(49-51)Gcc>Acc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							45.0	57.0	53.0					2																	232262479		2117	4235	6352	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232262479G>A	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.49G>A	2.37:g.232262479G>A	ENSP00000287590:p.Ala17Thr					B3GNT7_ENST00000479618.1_3'UTR	p.A17T	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	310	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	17					B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.49G>A	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	G	9.771	1.172627	0.21704	.	.	ENSG00000156966	ENST00000287590	T	0.35605	1.3	5.82	5.82	0.92795	.	1.184180	0.05913	N	0.632062	T	0.36635	0.0974	L	0.54323	1.7	0.22940	N	0.99854	B	0.28128	0.201	B	0.19148	0.024	T	0.18777	-1.0326	10	0.42905	T	0.14	.	10.1011	0.42507	0.0:0.1473:0.6999:0.1529	.	17	Q8NFL0	B3GN7_HUMAN	T	17	ENSP00000287590:A17T	ENSP00000287590:A17T	A	+	1	0	B3GNT7	231970723	1.000000	0.71417	0.975000	0.42487	0.019000	0.09904	3.839000	0.55835	2.757000	0.94681	0.655000	0.94253	GCC		0.632	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		11	57	0	0	0	1	0	11	57				
SLC25A42	284439	broad.mit.edu	37	19	19218754	19218754	+	Silent	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:19218754G>A	ENST00000318596.7	+	7	700	c.549G>A	c.(547-549)ctG>ctA	p.L183L	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	183					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AAGAGGGGCTGAAGACTCTCT	0.567																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(547-549)ctG>ctA		solute carrier family 25, member 42							115.0	101.0	106.0					19																	19218754		2203	4300	6503	SO:0001819	synonymous_variant	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19218754G>A		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.549G>A	19.37:g.19218754G>A						SLC25A42_ENST00000600275.1_3'UTR	p.L183L	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		7	700	+			183					D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	37	c.549G>A	CCDS32966.1																																																																																				0.567	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		23	100	0	0	0	1	0	23	100				
PABPC3	5042	broad.mit.edu	37	13	25670474	25670474	+	Silent	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr13:25670474G>A	ENST00000281589.3	+	1	175	c.138G>A	c.(136-138)ttG>ttA	p.L46L		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	46	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCAGGGACTTGATCACCAGCG	0.567																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(136-138)ttG>ttA		poly(A) binding protein, cytoplasmic 3							82.0	80.0	81.0					13																	25670474		2203	4300	6503	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670474G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.138G>A	13.37:g.25670474G>A							p.L46L	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	175	+		Lung SC(185;0.0225)|Breast(139;0.0602)	46			RRM 1.		Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.138G>A	CCDS9311.1																																																																																				0.567	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		9	72	0	0	0	1	0	9	72				
FBXL17	64839	broad.mit.edu	37	5	107216852	107216852	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:107216852C>A	ENST00000542267.1	-	8	2257	c.1851G>T	c.(1849-1851)atG>atT	p.M617I	FBXL17_ENST00000496714.1_Missense_Mutation_p.M219I|FBXL17_ENST00000359660.5_Missense_Mutation_p.M219I	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	617										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TCTCTATTGTCATGCTGTATC	0.458																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1849-1851)atG>atT		F-box and leucine-rich repeat protein 17							157.0	143.0	147.0					5																	107216852		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107216852C>A	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1851G>T	5.37:g.107216852C>A	ENSP00000437464:p.Met617Ile					FBXL17_ENST00000359660.5_Missense_Mutation_p.M219I|FBXL17_ENST00000496714.1_Missense_Mutation_p.M219I	p.M617I	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2257	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	617					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1851G>T	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582292	0.46006	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02345	4.33;4.33;4.33	6.17	6.17	0.99709	.	0.119658	0.64402	D	0.000013	T	0.03827	0.0108	L	0.29908	0.895	0.35060	D	0.761506	B;B	0.13594	0.002;0.008	B;B	0.15870	0.001;0.014	T	0.51857	-0.8652	10	0.20046	T	0.44	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	617;219	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	I	219;617;219	ENSP00000352683:M219I;ENSP00000437464:M617I;ENSP00000418111:M219I	ENSP00000352683:M219I	M	-	3	0	FBXL17	107244751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.493000	0.45320	2.941000	0.99782	0.655000	0.94253	ATG		0.458	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	94	1	0	1.5842e-08	1	1.73563e-08	13	94				
ZIC2	7546	broad.mit.edu	37	13	100637931	100637931	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr13:100637931G>C	ENST00000376335.3	+	3	1887	c.1594G>C	c.(1594-1596)Gtg>Ctg	p.V532L		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	532					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAATGGTACGTGTGACGGGT	0.706																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1594-1596)Gtg>Ctg		Zic family member 2							14.0	16.0	15.0					13																	100637931		1741	3709	5450	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637931G>C	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1594G>C	13.37:g.100637931G>C	ENSP00000365514:p.Val532Leu						p.V532L	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			3	1887	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		532					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1594G>C	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064184	0.55432	.	.	ENSG00000043355	ENST00000376335	T	0.11385	2.78	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000002	T	0.16085	0.0387	L	0.43923	1.385	0.53688	D	0.999973	D	0.54207	0.965	P	0.48921	0.595	T	0.02661	-1.1127	10	0.72032	D	0.01	.	15.8318	0.78760	0.0:0.0:1.0:0.0	.	532	O95409	ZIC2_HUMAN	L	532	ENSP00000365514:V532L	ENSP00000365514:V532L	V	+	1	0	ZIC2	99435932	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.350000	0.73017	2.108000	0.64289	0.462000	0.41574	GTG		0.706	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		3	15	0	0	0	1	0	3	15				
DPYS	1807	broad.mit.edu	37	8	105441917	105441917	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr8:105441917T>C	ENST00000351513.2	-	5	938	c.806A>G	c.(805-807)tAt>tGt	p.Y269C		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	269					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTTCACCATAGACCACCTT	0.423																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(805-807)tAt>tGt		dihydropyrimidinase							101.0	84.0	90.0					8																	105441917		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105441917T>C	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.806A>G	8.37:g.105441917T>C	ENSP00000276651:p.Tyr269Cys						p.Y269C	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	938	-			269						Missense_Mutation	SNP	ENST00000351513.2	37	c.806A>G	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332237	0.60853	.	.	ENSG00000147647	ENST00000351513	D	0.90563	-2.69	5.86	3.34	0.38264	Amidohydrolase 1 (1);	0.164007	0.53938	D	0.000056	D	0.95481	0.8532	M	0.91663	3.23	0.49687	D	0.999816	D	0.76494	0.999	D	0.71414	0.973	D	0.95430	0.8515	10	0.87932	D	0	-13.1286	11.0178	0.47701	0.3548:0.0:0.0:0.6452	.	269	Q14117	DPYS_HUMAN	C	269	ENSP00000276651:Y269C	ENSP00000276651:Y269C	Y	-	2	0	DPYS	105511093	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	2.344000	0.44010	1.011000	0.39340	0.528000	0.53228	TAT		0.423	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		16	87	0	0	0	1	0	16	87				
TRMT61B	55006	broad.mit.edu	37	2	29092581	29092581	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:29092581G>A	ENST00000306108.5	-	1	586	c.563C>T	c.(562-564)cCg>cTg	p.P188L		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	188					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)	p.P188Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CTTGCCGAACGGGACTGCCCC	0.473																																						ENST00000306108.5																			1	Substitution - Missense(1)	p.P188Q(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(562-564)cCg>cTg		tRNA methyltransferase 61 homolog B (S. cerevisiae)							84.0	91.0	89.0					2																	29092581		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092581G>A	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.563C>T	2.37:g.29092581G>A	ENSP00000302801:p.Pro188Leu						p.P188L	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			1	586	-			188					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.563C>T	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714299	0.30413	.	.	ENSG00000171103	ENST00000306108	T	0.23950	1.88	5.5	-3.05	0.05396	.	0.706955	0.13035	N	0.419014	T	0.09291	0.0229	N	0.11673	0.155	0.09310	N	0.999992	B;B	0.30033	0.019;0.266	B;B	0.21360	0.01;0.034	T	0.30031	-0.9992	10	0.22706	T	0.39	.	6.7774	0.23626	0.1259:0.517:0.2514:0.1057	.	188;188	F8WDR2;Q9BVS5	.;TR61B_HUMAN	L	188	ENSP00000302801:P188L	ENSP00000302801:P188L	P	-	2	0	TRMT61B	28946085	0.000000	0.05858	0.073000	0.20177	0.885000	0.51271	-0.238000	0.08977	-0.568000	0.06038	-0.305000	0.09177	CCG		0.473	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		13	129	0	0	0	1	0	13	129				
SLC4A11	83959	broad.mit.edu	37	20	3211669	3211669	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr20:3211669T>C	ENST00000380056.3	-	9	1173	c.1126A>G	c.(1126-1128)Atc>Gtc	p.I376V	SLC4A11_ENST00000539553.2_Missense_Mutation_p.I360V|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Missense_Mutation_p.I403V	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	376	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTGGTGGTGATGTATTTGCCC	0.577																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(1207-1209)Atc>Gtc		solute carrier family 4, sodium borate transporter, member 11							205.0	184.0	191.0					20																	3211669		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3211669T>C	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1126A>G	20.37:g.3211669T>C	ENSP00000369396:p.Ile376Val					SLC4A11_ENST00000539553.1_Missense_Mutation_p.I360V|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.I376V	p.I403V	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			10	1308	-			376			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.1207A>G	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.110696	0.37242	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.78481	-1.18;-1.18;-1.18	5.18	2.72	0.32119	Bicarbonate transporter, C-terminal (1);	0.173511	0.49916	N	0.000129	T	0.61788	0.2375	N	0.25060	0.705	0.36452	D	0.866176	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.14023	0.006;0.01;0.01	T	0.60136	-0.7322	10	0.46703	T	0.11	.	7.8846	0.29642	0.0:0.0871:0.1488:0.7642	.	360;403;376	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	V	403;376;360	ENSP00000369399:I403V;ENSP00000369396:I376V;ENSP00000441370:I360V	ENSP00000369396:I376V	I	-	1	0	SLC4A11	3159669	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.649000	0.46656	0.834000	0.34852	0.379000	0.24179	ATC		0.577	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			13	99	0	0	0	1	0	13	99				
IRX1	79192	broad.mit.edu	37	5	3599913	3599913	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:3599913T>A	ENST00000302006.3	+	2	903	c.851T>A	c.(850-852)cTg>cAg	p.L284Q	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	284					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTTGGGCCTGGCAAAGGAG	0.741																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(850-852)cTg>cAg		iroquois homeobox 1							5.0	6.0	6.0					5																	3599913		2059	4076	6135	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599913T>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.851T>A	5.37:g.3599913T>A	ENSP00000305244:p.Leu284Gln					CTD-2012M11.3_ENST00000559410.1_RNA	p.L284Q	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	903	+			284					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.851T>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	T	6.227	0.410067	0.11812	.	.	ENSG00000170549	ENST00000302006	T	0.61392	0.11	4.5	3.34	0.38264	.	1.023410	0.07764	N	0.950563	T	0.48429	0.1499	L	0.50333	1.59	0.18873	N	0.999986	P	0.44578	0.838	B	0.36030	0.216	T	0.23726	-1.0180	10	0.28530	T	0.3	.	9.0846	0.36572	0.0:0.0879:0.0:0.9121	.	284	P78414	IRX1_HUMAN	Q	284	ENSP00000305244:L284Q	ENSP00000305244:L284Q	L	+	2	0	IRX1	3652913	1.000000	0.71417	0.945000	0.38365	0.019000	0.09904	2.501000	0.45389	0.574000	0.29417	-0.250000	0.11733	CTG		0.741	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		3	13	0	0	0	1	0	3	13				
RFT1	91869	broad.mit.edu	37	3	53133435	53133435	+	Silent	SNP	A	A	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:53133435A>G	ENST00000296292.3	-	11	1231	c.1170T>C	c.(1168-1170)tgT>tgC	p.C390C	RFT1_ENST00000394738.3_Silent_p.C351C|RP11-894J14.5_ENST00000607203.1_Missense_Mutation_p.V12A	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	390					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAAATGTGAAACACTCTGTCA	0.468																																						ENST00000607203.1																			0											c.(34-36)gTt>gCt									155.0	129.0	138.0					3																	53133435		2203	4300	6503	SO:0001819	synonymous_variant	91869							g.chr3:53133435A>G	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.1170T>C	3.37:g.53133435A>G						RFT1_ENST00000296292.3_Silent_p.C390C|RFT1_ENST00000394738.3_Silent_p.C351C	p.V12A							1	34	-								Q96J03	Missense_Mutation	SNP	ENST00000296292.3	37	c.35T>C	CCDS2869.1																																																																																				0.468	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		8	52	0	0	0	1	0	8	52				
CDH10	1008	broad.mit.edu	37	5	24535227	24535227	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:24535227G>C	ENST00000264463.4	-	5	1315	c.808C>G	c.(808-810)Ccc>Gcc	p.P270A		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	270	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTACTCTGGGGGAAACGTGGT	0.458										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(808-810)Ccc>Gcc		cadherin 10, type 2 (T2-cadherin)							134.0	114.0	121.0					5																	24535227		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535227G>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.808C>G	5.37:g.24535227G>C	ENSP00000264463:p.Pro270Ala	HNSCC(23;0.051)					p.P270A	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1315	-			270			Cadherin 3.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.808C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293680	0.23564	.	.	ENSG00000040731	ENST00000264463	T	0.01538	4.79	5.67	3.51	0.40186	Cadherin (3);Cadherin-like (1);	0.344401	0.35096	N	0.003446	T	0.01695	0.0054	L	0.31420	0.93	0.80722	D	1	B	0.24768	0.111	B	0.21708	0.036	T	0.57740	-0.7759	10	0.45353	T	0.12	.	8.1532	0.31154	0.1485:0.1443:0.7071:0.0	.	270	Q9Y6N8	CAD10_HUMAN	A	270	ENSP00000264463:P270A	ENSP00000264463:P270A	P	-	1	0	CDH10	24570984	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.424000	0.34848	1.356000	0.45884	0.591000	0.81541	CCC		0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		5	50	0	0	0	1	0	5	50				
PCDHGA2	56113	broad.mit.edu	37	5	140720964	140720964	+	Splice_Site	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:140720964T>C	ENST00000394576.2	+	1	2424		c.e1+2		PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCTCAGGTAATCTATCTT	0.393																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.e1+2									56.0	59.0	58.0					5																	140720964		2200	4300	6500	SO:0001630	splice_region_variant	56113							g.chr5:140720964T>C	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2424+2T>C	5.37:g.140720964T>C						PCDHGA1_ENST00000517417.1_Intron		NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2424	+								Q52LL6|Q9Y5D5	Splice_Site	SNP	ENST00000394576.2	37		CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.601004	0.28534	.	.	ENSG00000081853	ENST00000394576	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2617	0.60108	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCDHGA2	140701148	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	2.603000	0.46266	2.197000	0.70478	0.482000	0.46254	.		0.393	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	Intron	9	96	0	0	0	1	0	9	96				
EEF2	1938	broad.mit.edu	37	19	3977871	3977871	+	Silent	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:3977871G>A	ENST00000309311.6	-	12	2101	c.2013C>T	c.(2011-2013)taC>taT	p.Y671Y		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	671					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCGTTGAGGTACTGCACAC	0.627																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2011-2013)taC>taT		eukaryotic translation elongation factor 2							110.0	100.0	103.0					19																	3977871		2203	4300	6503	SO:0001819	synonymous_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3977871G>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.2013C>T	19.37:g.3977871G>A							p.Y671Y	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2101	-		Hepatocellular(1079;0.137)	671					B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	c.2013C>T	CCDS12117.1																																																																																				0.627	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		15	93	0	0	0	1	0	15	93				
ZNF585A	199704	broad.mit.edu	37	19	37642616	37642616	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:37642616C>T	ENST00000356958.4	-	5	2443	c.2185G>A	c.(2185-2187)Gac>Aac	p.D729N	ZNF585A_ENST00000355533.2_Missense_Mutation_p.D366N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.D674N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.D674N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGGACCTGTCAGTAAAGGCC	0.458																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2185-2187)Gac>Aac		zinc finger protein 585A							207.0	167.0	180.0					19																	37642616		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37642616C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.2185G>A	19.37:g.37642616C>T	ENSP00000349440:p.Asp729Asn					ZNF585A_ENST00000392157.2_Missense_Mutation_p.D674N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.D674N|ZNF585A_ENST00000355533.2_Missense_Mutation_p.D366N	p.D729N			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2443	-			729					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.2185G>A		.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183349	0.01620	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	3.05	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39020	N	0.001496	T	0.04815	0.0130	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.33292	-0.9874	9	0.40728	T	0.16	.	3.038	0.06128	0.3242:0.4422:0.0:0.2336	.	729	Q6P3V2	Z585A_HUMAN	N	729;674;674;366	ENSP00000349440:D729N;ENSP00000292841:D674N;ENSP00000375998:D674N;ENSP00000347724:D366N	ENSP00000292841:D674N	D	-	1	0	ZNF585A	42334456	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-2.432000	0.01022	0.159000	0.19401	-0.727000	0.03589	GAC		0.458	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		18	110	0	0	0	1	0	18	110				
CLK2	1196	broad.mit.edu	37	1	155233126	155233126	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:155233126C>A	ENST00000368361.4	-	13	1698	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	CLK2_ENST00000355560.4_Missense_Mutation_p.E459D|CLK2_ENST00000361168.5_Missense_Mutation_p.E460D|SCAMP3_ENST00000472397.1_5'Flank|CLK2_ENST00000536801.1_Missense_Mutation_p.E461D|CLK2_ENST00000497188.1_5'UTR|SCAMP3_ENST00000355379.3_5'Flank|SCAMP3_ENST00000302631.3_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	461	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGGTTCATACTCTAGCATGC	0.567								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1381-1383)gaG>gaT	Other conserved DNA damage response genes	CDC-like kinase 2							95.0	85.0	88.0					1																	155233126		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155233126C>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1383G>T	1.37:g.155233126C>A	ENSP00000357345:p.Glu461Asp					CLK2_ENST00000536801.1_Missense_Mutation_p.E461D|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.E460D|CLK2_ENST00000355560.4_Missense_Mutation_p.E459D	p.E461D			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		13	1698	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		461			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.1383G>T		.	.	.	.	.	.	.	.	.	.	.	15.11	2.736176	0.49045	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.83	-1.52	0.08637	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	N	0.21373	0.66	0.58432	D	0.999996	B;B	0.14012	0.002;0.009	B;B	0.15052	0.005;0.012	T	0.11372	-1.0590	10	0.66056	D	0.02	.	9.849	0.41046	0.0:0.4414:0.0:0.5586	.	461;460	P49760;P49760-3	CLK2_HUMAN;.	D	460;461;459;233;461	ENSP00000354856:E460D;ENSP00000357345:E461D;ENSP00000347759:E459D;ENSP00000441023:E461D	ENSP00000347759:E459D	E	-	3	2	CLK2	153499750	0.936000	0.31750	0.983000	0.44433	0.996000	0.88848	0.126000	0.15769	-0.376000	0.07943	0.561000	0.74099	GAG		0.567	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		4	64	1	0	0.184627	1	0.185875	4	64				
ZNF280B	140883	broad.mit.edu	37	22	22843036	22843036	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr22:22843036G>C	ENST00000406426.1	-	4	1430	c.688C>G	c.(688-690)Cag>Gag	p.Q230E	ZNF280B_ENST00000360412.2_Missense_Mutation_p.Q230E			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCTCCATTCTGAACATGGCTT	0.368																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(688-690)Cag>Gag		zinc finger protein 280B							108.0	101.0	104.0					22																	22843036		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843036G>C	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.688C>G	22.37:g.22843036G>C	ENSP00000385998:p.Gln230Glu					ZNF280B_ENST00000406426.1_Missense_Mutation_p.Q230E	p.Q230E	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1463	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	230						Missense_Mutation	SNP	ENST00000406426.1	37	c.688C>G	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731712	0.30684	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.02916	4.11;4.11	3.9	3.9	0.45041	.	.	.	.	.	T	0.04407	0.0121	M	0.63428	1.95	0.23210	N	0.998115	B	0.28971	0.229	B	0.29077	0.098	T	0.34950	-0.9808	9	0.15499	T	0.54	-2.1937	11.6859	0.51485	0.0:0.0:1.0:0.0	.	230	Q86YH2	Z280B_HUMAN	E	230	ENSP00000385998:Q230E;ENSP00000353586:Q230E	ENSP00000353586:Q230E	Q	-	1	0	ZNF280B	21173036	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.053000	0.41326	2.471000	0.83476	0.655000	0.94253	CAG		0.368	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		56	130	0	0	0	1	0	56	130				
ID2	3398	broad.mit.edu	37	2	8822561	8822561	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:8822561A>G	ENST00000234091.4	+	3	1126	c.266A>G	c.(265-267)cAt>cGt	p.H89R	ID2_ENST00000396290.1_Missense_Mutation_p.H89R|AC011747.7_ENST00000455965.1_RNA|ID2_ENST00000331129.3_Missense_Mutation_p.H89R			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	89					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCAGCCTGCATCACCAGAGA	0.577																																						ENST00000234091.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(265-267)cAt>cGt		inhibitor of DNA binding 2, dominant negative helix-loop-helix protein							61.0	65.0	64.0					2																	8822561		2203	4300	6503	SO:0001583	missense	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822561A>G		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.266A>G	2.37:g.8822561A>G	ENSP00000234091:p.His89Arg					ID2_ENST00000396290.1_Missense_Mutation_p.H89R|ID2_ENST00000331129.3_Missense_Mutation_p.H89R	p.H89R			Q02363	ID2_HUMAN			3	1126	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		89						Missense_Mutation	SNP	ENST00000234091.4	37	c.266A>G	CCDS1659.1	.	.	.	.	.	.	.	.	.	.	A	9.268	1.044855	0.19748	.	.	ENSG00000115738	ENST00000234091;ENST00000396290;ENST00000331129	D;D;D	0.98313	-4.86;-4.86;-4.86	5.56	5.56	0.83823	Helix-loop-helix DNA-binding (1);	0.047393	0.85682	D	0.000000	D	0.95701	0.8602	L	0.47716	1.5	0.58432	D	0.999999	B	0.29432	0.244	B	0.22386	0.039	D	0.94864	0.8024	10	0.15499	T	0.54	-0.0774	14.2725	0.66159	1.0:0.0:0.0:0.0	.	89	Q02363	ID2_HUMAN	R	89	ENSP00000234091:H89R;ENSP00000379585:H89R;ENSP00000385465:H89R	ENSP00000234091:H89R	H	+	2	0	ID2	8740012	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.645000	0.91049	2.109000	0.64355	0.454000	0.30748	CAT		0.577	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		7	75	0	0	0	1	0	7	75				
ZNF813	126017	broad.mit.edu	37	19	53994161	53994161	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:53994161T>A	ENST00000396403.4	+	4	803	c.675T>A	c.(673-675)aaT>aaA	p.N225K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAGCCTTTAATTATAGCTCAC	0.363																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(673-675)aaT>aaA		zinc finger protein 813							72.0	77.0	75.0					19																	53994161		2200	4299	6499	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994161T>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.675T>A	19.37:g.53994161T>A	ENSP00000379684:p.Asn225Lys					ZNF813_ENST00000396421.4_Intron	p.N225K	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	803	+			225						Missense_Mutation	SNP	ENST00000396403.4	37	c.675T>A	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026942	0.35797	.	.	ENSG00000198346	ENST00000396403	T	0.14516	2.5	1.0	-2.0	0.07433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.52759	1.655	0.09310	N	1	B	0.34290	0.447	B	0.38921	0.285	T	0.34229	-0.9837	9	0.22109	T	0.4	.	2.8375	0.05519	0.2204:0.1908:0.0:0.5888	.	225	Q6ZN06	ZN813_HUMAN	K	225	ENSP00000379684:N225K	ENSP00000379684:N225K	N	+	3	2	ZNF813	58685973	0.000000	0.05858	0.001000	0.08648	0.172000	0.22775	-7.708000	0.00031	-0.433000	0.07286	0.172000	0.16884	AAT		0.363	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		18	143	0	0	0	1	0	18	143				
GPR124	25960	broad.mit.edu	37	8	37687410	37687410	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr8:37687410G>C	ENST00000412232.2	+	6	609	c.596G>C	c.(595-597)cGc>cCc	p.R199P	GPR124_ENST00000315215.7_Missense_Mutation_p.R199P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	199	LRRCT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGCCACCTGCGCTGGCTGCTG	0.667																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(595-597)cGc>cCc		G protein-coupled receptor 124							45.0	44.0	44.0					8																	37687410		2202	4298	6500	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37687410G>C	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.596G>C	8.37:g.37687410G>C	ENSP00000406367:p.Arg199Pro					GPR124_ENST00000412232.2_Missense_Mutation_p.R199P	p.R199P			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	959	+			199			LRRCT.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.596G>C	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803247	0.50315	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	D;D;D	0.90444	-2.67;-2.67;-2.67	5.21	1.18	0.20946	Cysteine-rich flanking region, C-terminal (1);	0.272209	0.35262	N	0.003334	D	0.92286	0.7553	M	0.80183	2.485	0.44067	D	0.996813	D;P	0.63046	0.992;0.64	P;B	0.59221	0.854;0.301	D	0.88450	0.3048	10	0.35671	T	0.21	-5.5257	6.3853	0.21558	0.2129:0.0:0.6523:0.1348	.	199;199	Q96PE1-2;Q96PE1	.;GP124_HUMAN	P	157;192;199;199	ENSP00000400860:R157P;ENSP00000323508:R199P;ENSP00000406367:R199P	ENSP00000323508:R199P	R	+	2	0	GPR124	37806568	0.337000	0.24766	0.995000	0.50966	0.949000	0.60115	0.375000	0.20518	0.169000	0.19679	0.462000	0.41574	CGC		0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			13	52	0	0	0	1	0	13	52				
NRXN2	9379	broad.mit.edu	37	11	64418041	64418041	+	Silent	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr11:64418041G>C	ENST00000377551.1	-	14	3199	c.2988C>G	c.(2986-2988)gtC>gtG	p.V996V	NRXN2_ENST00000409571.1_Silent_p.V989V|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Silent_p.V996V|NRXN2_ENST00000377559.3_Silent_p.V956V			Q9P2S2	NRX2A_HUMAN	neurexin 2	996	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGTTGTCATTGACTGGTTTGT	0.577											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(2986-2988)gtC>gtG		neurexin 2							280.0	203.0	229.0					11																	64418041		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64418041G>C		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2988C>G	11.37:g.64418041G>C			OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	NRXN2_ENST00000377551.1_Silent_p.V996V|NRXN2_ENST00000409571.1_Silent_p.V989V|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Silent_p.V956V	p.V996V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			15	3449	-			996			Laminin G-like 5.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.2988C>G	CCDS8077.1																																																																																				0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		10	154	0	0	0	1	0	10	154				
PPP5C	5536	broad.mit.edu	37	19	46891878	46891878	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:46891878G>T	ENST00000012443.4	+	11	1348	c.1245G>T	c.(1243-1245)ttG>ttT	p.L415F	AC007193.8_ENST00000598616.1_RNA|PPP5C_ENST00000391919.1_Missense_Mutation_p.L287F	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	415	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		AGGCCTTCTTGGAAGAGAACA	0.612																																						ENST00000012443.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(1243-1245)ttG>ttT		protein phosphatase 5, catalytic subunit							104.0	81.0	89.0					19																	46891878		2203	4300	6503	SO:0001583	missense	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46891878G>T		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1245G>T	19.37:g.46891878G>T	ENSP00000012443:p.Leu415Phe					PPP5C_ENST00000391919.1_Missense_Mutation_p.L287F	p.L415F	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	11	1348	+		Ovarian(192;0.0731)|all_neural(266;0.196)	415			Catalytic.		Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	c.1245G>T	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193710	0.78902	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.64085	-0.08;-0.08	5.09	2.82	0.32997	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.64402	D	0.000002	D	0.82277	0.5002	H	0.96239	3.79	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.85130	0.98;0.997	D	0.83671	0.0166	10	0.49607	T	0.09	-10.0324	8.5662	0.33540	0.0882:0.0:0.756:0.1558	.	415;415	B2R6R6;P53041	.;PPP5_HUMAN	F	415;402;287	ENSP00000012443:L415F;ENSP00000375786:L287F	ENSP00000012443:L415F	L	+	3	2	PPP5C	51583718	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.089000	0.57685	2.367000	0.80283	0.561000	0.74099	TTG		0.612	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		11	75	1	0	1.58986e-06	1	1.71659e-06	11	75				
SLC35B4	84912	broad.mit.edu	37	7	133986850	133986850	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr7:133986850G>C	ENST00000378509.4	-	5	656	c.357C>G	c.(355-357)ttC>ttG	p.F119L		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	119				F -> S (in Ref. 6; BAD96594). {ECO:0000305}.	carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						AGGTATATTTGAATATACTGT	0.353																																						ENST00000378509.4																			0				large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						c.(355-357)ttC>ttG		solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4							62.0	68.0	66.0					7																	133986850		2203	4300	6503	SO:0001583	missense	84912					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity	g.chr7:133986850G>C	AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.357C>G	7.37:g.133986850G>C	ENSP00000367770:p.Phe119Leu						p.F119L	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN			5	656	-			119	F -> S (in Ref. 6; BAD96594).				A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	ENST00000378509.4	37	c.357C>G	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	G	8.949	0.967720	0.18659	.	.	ENSG00000205060	ENST00000378509	T	0.27402	1.67	5.73	3.88	0.44766	.	0.264185	0.44688	N	0.000438	T	0.07863	0.0197	N	0.00926	-1.1	0.31843	N	0.623257	B;B;B	0.13145	0.0;0.007;0.0	B;B;B	0.15052	0.001;0.012;0.001	T	0.16778	-1.0391	10	0.10636	T	0.68	-10.7698	3.983	0.09503	0.1397:0.1298:0.5967:0.1338	.	119;119;119	Q969S0-3;Q969S0-2;Q969S0	.;.;S35B4_HUMAN	L	119	ENSP00000367770:F119L	ENSP00000367770:F119L	F	-	3	2	SLC35B4	133637390	0.992000	0.36948	1.000000	0.80357	0.658000	0.38924	0.171000	0.16685	1.374000	0.46228	0.650000	0.86243	TTC		0.353	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826		13	53	0	0	0	1	0	13	53				
THSD7B	80731	broad.mit.edu	37	2	138169279	138169279	+	Silent	SNP	A	A	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:138169279A>G	ENST00000409968.1	+	14	2974	c.2796A>G	c.(2794-2796)ggA>ggG	p.G932G	THSD7B_ENST00000413152.2_Silent_p.G901G|THSD7B_ENST00000272643.3_Silent_p.G932G|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	932	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACCTTATGGAAACTGGTCAG	0.478																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2794-2796)ggA>ggG		thrombospondin, type I, domain containing 7B							140.0	134.0	136.0					2																	138169279		1921	4123	6044	SO:0001819	synonymous_variant	80731							g.chr2:138169279A>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2796A>G	2.37:g.138169279A>G						THSD7B_ENST00000413152.2_Silent_p.G901G|THSD7B_ENST00000272643.3_Silent_p.G932G|THSD7B_ENST00000543459.1_Intron	p.G932G						BRCA - Breast invasive adenocarcinoma(221;0.19)	14	2974	+									Silent	SNP	ENST00000409968.1	37	c.2796A>G																																																																																					0.478	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		19	129	0	0	0	1	0	19	129				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			283755							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	51	0	0	0	1	0	4	51				
PRR12	57479	broad.mit.edu	37	19	50099945	50099945	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:50099945G>A	ENST00000418929.2	+	4	2365	c.2353G>A	c.(2353-2355)Gcc>Acc	p.A785T		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTTCTGGAGGCCGGGGGCCC	0.711																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(2353-2355)Gcc>Acc		proline rich 12							10.0	14.0	13.0					19																	50099945		1838	3968	5806	SO:0001583	missense	57479						DNA binding	g.chr19:50099945G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2353G>A	19.37:g.50099945G>A	ENSP00000394510:p.Ala785Thr						p.A785T	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2365	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	480					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.2353G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231342	0.22626	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.35	2.27	0.28462	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.26515	N	0.974524	B	0.26809	0.16	B	0.22601	0.04	T	0.16041	-1.0416	7	0.19147	T	0.46	.	9.7123	0.40254	0.0:0.0:0.7916:0.2084	.	785	Q9ULL5-3	.	T	785	.	ENSP00000394510:A785T	A	+	1	0	PRR12	54791757	0.910000	0.30920	0.927000	0.36925	0.863000	0.49368	0.934000	0.28910	0.957000	0.37930	0.313000	0.20887	GCC		0.711	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	16	0	0	0	1	0	3	16				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	25	0	0	0	1	0	4	25				
DARS	1615	broad.mit.edu	37	2	136743008	136743008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:136743008G>A	ENST00000264161.4	-	1	246	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	AC093391.2_ENST00000438432.1_RNA|AC093391.2_ENST00000419808.1_RNA|AC093391.2_ENST00000446492.1_RNA|AC093391.2_ENST00000444406.1_RNA|DARS_ENST00000537273.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	11					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GGCTTCTCCTGACTCTTGCGG	0.687																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(31-33)Cag>Tag		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						39.0	46.0	43.0					2																	136743008		2203	4300	6503	SO:0001587	stop_gained	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136743008G>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.31C>T	2.37:g.136743008G>A	ENSP00000264161:p.Gln11*					AC093391.2_ENST00000444406.1_RNA|AC093391.2_ENST00000419808.1_RNA|AC093391.2_ENST00000438432.1_RNA|DARS_ENST00000537273.1_5'UTR	p.Q11*	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	1	246	-			11					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Nonsense_Mutation	SNP	ENST00000264161.4	37	c.31C>T	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228745	0.95173	.	.	ENSG00000115866	ENST00000264161	.	.	.	4.83	4.83	0.62350	.	0.174621	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-6.8827	13.2911	0.60272	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000264161:Q11X	Q	-	1	0	DARS	136459478	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.667000	0.61561	2.496000	0.84212	0.460000	0.39030	CAG		0.687	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		4	38	0	0	0	1	0	4	38				
HCN1	348980	broad.mit.edu	37	5	45462012	45462012	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:45462012T>G	ENST00000303230.4	-	3	1004	c.947A>C	c.(946-948)cAg>cCg	p.Q316P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	316					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TACTAAGAACTGAAGACAACC	0.423																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(946-948)cAg>cCg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							82.0	81.0	82.0					5																	45462012		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462012T>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.947A>C	5.37:g.45462012T>G	ENSP00000307342:p.Gln316Pro						p.Q316P	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			3	1004	-			316						Missense_Mutation	SNP	ENST00000303230.4	37	c.947A>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725722	0.89298	.	.	ENSG00000164588	ENST00000303230	D	0.97430	-4.38	5.73	5.73	0.89815	Ion transport (1);	0.000000	0.64402	D	0.000009	D	0.96864	0.8976	M	0.68952	2.095	0.80722	D	1	P	0.51791	0.948	P	0.48089	0.566	D	0.97280	0.9917	10	0.87932	D	0	.	16.0181	0.80457	0.0:0.0:0.0:1.0	.	316	O60741	HCN1_HUMAN	P	316	ENSP00000307342:Q316P	ENSP00000307342:Q316P	Q	-	2	0	HCN1	45497769	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.031000	0.88826	2.195000	0.70347	0.528000	0.53228	CAG		0.423	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		8	41	0	0	0	1	0	8	41				
PCDHB12	56124	broad.mit.edu	37	5	140590357	140590357	+	Silent	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr5:140590357C>T	ENST00000239450.2	+	1	2067	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	PCDHB12_ENST00000541609.1_Silent_p.T289T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCGCACCGCCAGGCTGC	0.701																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1876-1878)acC>acT									7.0	10.0	9.0					5																	140590357		1595	3263	4858	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590357C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1878C>T	5.37:g.140590357C>T						PCDHB12_ENST00000541609.1_Silent_p.T289T	p.T626T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2067	+			626			Cadherin 6.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1878C>T	CCDS4254.1																																																																																				0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		16	110	0	0	0	1	0	16	110				
MED14	9282	broad.mit.edu	37	X	40541116	40541116	+	Silent	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chrX:40541116G>A	ENST00000324817.1	-	19	2563	c.2445C>T	c.(2443-2445)acC>acT	p.T815T	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	815	Interaction with SREBF1.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCTTCCCTTGGTGGTTCCAT	0.299																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2443-2445)acC>acT		mediator complex subunit 14							61.0	57.0	58.0					X																	40541116		2203	4295	6498	SO:0001819	synonymous_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40541116G>A	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2445C>T	X.37:g.40541116G>A						MED14_ENST00000496531.1_5'UTR	p.T815T	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			19	2563	-			815			Interaction with SREBF1.		Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.2445C>T	CCDS14254.1																																																																																				0.299	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		10	30	0	0	0	1	0	10	30				
TMEM132D	121256	broad.mit.edu	37	12	130185156	130185156	+	Missense_Mutation	SNP	G	G	A	rs372764040		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr12:130185156G>A	ENST00000422113.2	-	2	493	c.167C>T	c.(166-168)gCg>gTg	p.A56V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	56					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAGACGTCCGCGTTGTTGAT	0.557																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(166-168)gCg>gTg		transmembrane protein 132D		G	VAL/ALA	0,4406		0,0,2203	92.0	69.0	77.0		167	5.3	0.0	12		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132D	NM_133448.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	56/1100	130185156	1,13005	2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130185156G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.167C>T	12.37:g.130185156G>A	ENSP00000408581:p.Ala56Val						p.A56V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	493	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	56					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.167C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939228	0.92526	0.0	1.16E-4	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.33	5.33	0.75918	.	0.323515	0.26463	N	0.024223	T	0.39358	0.1075	M	0.74546	2.27	0.48452	D	0.999655	D	0.89917	1.0	D	0.71414	0.973	T	0.10109	-1.0644	9	.	.	.	-41.0693	19.0288	0.92946	0.0:0.0:1.0:0.0	.	56	Q14C87	T132D_HUMAN	V	56	ENSP00000408581:A56V	.	A	-	2	0	TMEM132D	128751109	1.000000	0.71417	0.032000	0.17829	0.755000	0.42902	7.648000	0.83479	2.472000	0.83506	0.555000	0.69702	GCG		0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		10	50	0	0	0	1	0	10	50				
TRDN	10345	broad.mit.edu	37	6	123542661	123542661	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:123542661G>T	ENST00000398178.3	-	40	2042	c.2021C>A	c.(2020-2022)aCt>aAt	p.T674N	TRDN_ENST00000334268.4_Missense_Mutation_p.T666N	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	674					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CACATCTTCAGTTCCTTCTAG	0.269																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(1996-1998)aCt>aAt		triadin							40.0	38.0	38.0					6																	123542661		1777	4025	5802	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123542661G>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.2021C>A	6.37:g.123542661G>T	ENSP00000381240:p.Thr674Asn					TRDN_ENST00000398178.3_Missense_Mutation_p.T674N	p.T666N			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	39	2314	-			674					A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.1997C>A	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	9.162	1.019041	0.19355	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.23348	1.91;1.92	4.91	2.99	0.34606	.	0.609086	0.15087	N	0.281305	T	0.04048	0.0113	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28586	-1.0039	10	0.22109	T	0.4	-0.0587	5.736	0.18067	0.0982:0.0:0.7109:0.1908	.	674	Q13061	TRDN_HUMAN	N	674;676;666	ENSP00000381240:T674N;ENSP00000333984:T666N	ENSP00000333984:T666N	T	-	2	0	TRDN	123584360	1.000000	0.71417	0.991000	0.47740	0.366000	0.29705	1.444000	0.35068	1.417000	0.47077	0.563000	0.77884	ACT		0.269	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	18	1	0	0.150653	1	0.153749	4	18				
RNF169	254225	broad.mit.edu	37	11	74546712	74546712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr11:74546712C>A	ENST00000299563.4	+	6	1077	c.1064C>A	c.(1063-1065)tCa>tAa	p.S355*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	355					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AGCTCCCTTTCATCCTTGGCT	0.512																																						ENST00000299563.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(1063-1065)tCa>tAa		ring finger protein 169							131.0	134.0	133.0					11																	74546712		2031	4181	6212	SO:0001587	stop_gained	254225						zinc ion binding	g.chr11:74546712C>A	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1064C>A	11.37:g.74546712C>A	ENSP00000299563:p.Ser355*						p.S355*	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN			6	1077	+			355					Q6N015	Nonsense_Mutation	SNP	ENST00000299563.4	37	c.1064C>A	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	36	5.853927	0.97030	.	.	ENSG00000166439	ENST00000299563	.	.	.	6.05	6.05	0.98169	.	0.539903	0.21210	N	0.078323	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9003	18.0951	0.89487	0.0:1.0:0.0:0.0	.	.	.	.	X	355	.	ENSP00000299563:S355X	S	+	2	0	RNF169	74224360	0.956000	0.32656	0.858000	0.33744	0.960000	0.62799	6.046000	0.71029	2.878000	0.98634	0.650000	0.86243	TCA		0.512	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		8	100	1	0	0.0381472	1	0.0391996	8	100				
MAPK8IP3	23162	broad.mit.edu	37	16	1811306	1811306	+	Splice_Site	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr16:1811306G>A	ENST00000250894.4	+	13	1693	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	MAPK8IP3_ENST00000356010.5_Splice_Site_p.S506S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	512					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GTACAGAATCGGTACATCCAC	0.567																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.e13+1		mitogen-activated protein kinase 8 interacting protein 3							77.0	84.0	82.0					16																	1811306		2025	4170	6195	SO:0001630	splice_region_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1811306G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1536+1G>A	16.37:g.1811306G>A						MAPK8IP3_ENST00000356010.5_Splice_Site_p.S506_splice	p.S512_splice	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			13	1693	+			512					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Splice_Site	SNP	ENST00000250894.4	37	c.1536_splice	CCDS10442.2																																																																																				0.567	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439	Silent	17	85	0	0	0	1	0	17	85				
HSD17B8	7923	broad.mit.edu	37	6	33173308	33173308	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:33173308G>C	ENST00000374662.3	+	4	499	c.472G>C	c.(472-474)Gta>Cta	p.V158L	MIR219-1_ENST00000362166.1_RNA|HSD17B8_ENST00000469186.1_3'UTR|RING1_ENST00000374656.4_5'Flank	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	158			V -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.V158L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						CAGTAGCATCGTAGGAAAGGT	0.537																																						ENST00000374662.3																			1	Substitution - Missense(1)	p.V158L(1)	breast(1)	NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						c.(472-474)Gta>Cta		hydroxysteroid (17-beta) dehydrogenase 8	NADH(DB00157)						188.0	169.0	176.0					6																	33173308		1511	2708	4219	SO:0001583	missense	7923				estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr6:33173308G>C	D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.472G>C	6.37:g.33173308G>C	ENSP00000363794:p.Val158Leu					HSD17B8_ENST00000469186.1_3'UTR	p.V158L	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN			4	499	+			158		V -> L (in a breast cancer sample; somatic mutation).			A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	c.472G>C	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500867	0.26861	.	.	ENSG00000204228	ENST00000374662	D	0.87412	-2.25	4.52	-4.95	0.03048	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.442639	0.23192	N	0.050894	T	0.59649	0.2209	N	0.10837	0.055	0.33974	D	0.647157	B	0.24618	0.107	B	0.32289	0.143	T	0.32851	-0.9891	10	0.87932	D	0	.	13.1931	0.59722	0.5826:0.0:0.4174:0.0	.	158	Q92506	DHB8_HUMAN	L	158	ENSP00000363794:V158L	ENSP00000363794:V158L	V	+	1	0	HSD17B8	33281286	0.537000	0.26386	0.004000	0.12327	0.547000	0.35210	-0.350000	0.07721	-2.129000	0.00817	-1.790000	0.00627	GTA		0.537	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234		8	110	0	0	0	1	0	8	110				
TRIP11	9321	broad.mit.edu	37	14	92471331	92471331	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr14:92471331T>A	ENST00000267622.4	-	11	3362	c.2989A>T	c.(2989-2991)Aca>Tca	p.T997S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	997					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGAACTTTTGTTTCTTGAAAA	0.318			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2989-2991)Aca>Tca		thyroid hormone receptor interactor 11							54.0	57.0	56.0					14																	92471331		2202	4300	6502	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471331T>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2989A>T	14.37:g.92471331T>A	ENSP00000267622:p.Thr997Ser						p.T997S	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3362	-			997					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2989A>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.52|12.52	1.962623|1.962623	0.34659|0.34659	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.04360	.|3.64	5.95|5.95	4.8|4.8	0.61643|0.61643	.|.	.|0.287960	.|0.39544	.|N	.|0.001328	T|T	0.07007|0.07007	0.0178|0.0178	L|L	0.29908|0.29908	0.895|0.895	0.41648|0.41648	D|D	0.989111|0.989111	.|D;B	.|0.59767	.|0.986;0.13	.|P;B	.|0.53593	.|0.73;0.053	T|T	0.45906|0.45906	-0.9229|-0.9229	5|10	.|0.09843	.|T	.|0.71	.|.	11.8918|11.8918	0.52633|0.52633	0.0:0.0679:0.0:0.9321|0.0:0.0679:0.0:0.9321	.|.	.|733;997	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	I|S	712|997;733	.|ENSP00000267622:T997S	.|ENSP00000267622:T997S	N|T	-|-	2|1	0|0	TRIP11|TRIP11	91541084|91541084	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.983000|0.983000	0.72400|0.72400	3.268000|3.268000	0.51585|0.51585	1.069000|1.069000	0.40788|0.40788	0.460000|0.460000	0.39030|0.39030	AAC|ACA		0.318	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			5	108	0	0	0	1	0	5	108				
PLPPR4	9890	broad.mit.edu	37	1	99762293	99762293	+	Splice_Site	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:99762293G>T	ENST00000370185.3	+	3	905		c.e3-1		LPPR4_ENST00000457765.1_Splice_Site|LPPR4_ENST00000370184.1_5'Flank	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN							axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TATCTTTGCAGATTATGGTAG	0.383																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.e3-1									103.0	110.0	108.0					1																	99762293		2203	4300	6503	SO:0001630	splice_region_variant	9890						phosphatidate phosphatase activity	g.chr1:99762293G>T																												ENST00000370185.3:c.409-1G>T	1.37:g.99762293G>T						LPPR4_ENST00000457765.1_Splice_Site		NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	3	905	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)						E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Splice_Site	SNP	ENST00000370185.3	37		CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738648	0.89573	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP4-788L13.1	99534881	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.624000	0.98398	2.749000	0.94314	0.655000	0.94253	.		0.383	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		Intron	14	192	1	0	1.52009e-12	1	1.71586e-12	14	192				
COL7A1	1294	broad.mit.edu	37	3	48625824	48625824	+	Silent	SNP	C	C	T	rs372604034		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:48625824C>T	ENST00000328333.8	-	20	2708	c.2601G>A	c.(2599-2601)ccG>ccA	p.P867P	COL7A1_ENST00000454817.1_Silent_p.P867P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	867	Nonhelical region (NC1).				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)		CCAGGGCTGGCGGAGCCTCAG	0.706																																						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.(2599-2601)ccG>ccA		collagen, type VII, alpha 1		C		0,4400		0,0,2200	16.0	18.0	17.0		2601	-9.8	0.0	3		17	2,8598		0,2,4298	no	coding-synonymous	COL7A1	NM_000094.3		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		867/2945	48625824	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48625824C>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.2601G>A	3.37:g.48625824C>T						COL7A1_ENST00000454817.1_Silent_p.P867P	p.P867P	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)	20	2708	-			867			Fibronectin type-III 8.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.2601G>A	CCDS2773.1																																																																																				0.706	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		3	14	0	0	0	1	0	3	14				
STK32B	55351	broad.mit.edu	37	4	5170100	5170100	+	Silent	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr4:5170100G>A	ENST00000282908.5	+	3	605	c.183G>A	c.(181-183)gaG>gaA	p.E61E	STK32B_ENST00000510398.1_Silent_p.E14E|STK32B_ENST00000512636.1_Silent_p.E14E	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AGTGCATCGAGAGGGATGAGG	0.517																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(181-183)gaG>gaA		serine/threonine kinase 32B							105.0	92.0	96.0					4																	5170100		2203	4300	6503	SO:0001819	synonymous_variant	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5170100G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.183G>A	4.37:g.5170100G>A						STK32B_ENST00000510398.1_Silent_p.E14E|STK32B_ENST00000512636.1_Silent_p.E14E	p.E61E	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			3	605	+			61			Protein kinase.			Silent	SNP	ENST00000282908.5	37	c.183G>A	CCDS3380.1																																																																																				0.517	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		5	28	0	0	0	1	0	5	28				
PDZRN4	29951	broad.mit.edu	37	12	41966828	41966828	+	Silent	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr12:41966828G>T	ENST00000402685.2	+	10	2255	c.2247G>T	c.(2245-2247)ccG>ccT	p.P749P	PDZRN4_ENST00000298919.7_Silent_p.P489P|PDZRN4_ENST00000539469.2_Silent_p.P491P	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	749							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGTACTCCGCTCACTGTAG	0.493																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1465-1467)ccG>ccT		PDZ domain containing ring finger 4							103.0	100.0	101.0					12																	41966828		2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966828G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2247G>T	12.37:g.41966828G>T						PDZRN4_ENST00000539469.2_Silent_p.P491P|PDZRN4_ENST00000402685.2_Silent_p.P749P	p.P489P			Q6ZMN7	PZRN4_HUMAN			10	1855	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	749					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.1467G>T	CCDS53777.1																																																																																				0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		18	106	1	0	9.16793e-09	1	1.01187e-08	18	106				
MTMR8	55613	broad.mit.edu	37	X	63488489	63488489	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chrX:63488489G>T	ENST00000374852.3	-	14	2110	c.2043C>A	c.(2041-2043)gaC>gaA	p.D681E	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	681						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGATGCCCATGTCCCCAGAGA	0.527																																						ENST00000374852.3																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(2041-2043)gaC>gaA		myotubularin related protein 8							71.0	64.0	66.0					X																	63488489		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488489G>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.2043C>A	X.37:g.63488489G>T	ENSP00000363985:p.Asp681Glu					MTMR8_ENST00000453546.1_Intron	p.D681E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			14	2110	-			681					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.2043C>A	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.012|9.012	0.982709|0.982709	0.18889|0.18889	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.94184|.	-3.37|.	3.06|3.06	-4.32|-4.32	0.03688|0.03688	.|.	.|.	.|.	.|.	.|.	T|T	0.12689|0.12689	0.0308|0.0308	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.19614|0.19614	-1.0300|-1.0300	9|5	0.72032|.	D|.	0.01|.	.|.	2.6821|2.6821	0.05096|0.05096	0.5612:0.1373:0.1619:0.1395|0.5612:0.1373:0.1619:0.1395	.|.	681|.	Q96EF0|.	MTMR8_HUMAN|.	E|N	681;567|485	ENSP00000363985:D681E|.	ENSP00000247400:D567E|.	D|H	-|-	3|1	2|0	MTMR8|MTMR8	63405214|63405214	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.048000|0.048000	0.14542|0.14542	-0.684000|-0.684000	0.05173|0.05173	-1.481000|-1.481000	0.01863|0.01863	-0.322000|-0.322000	0.08575|0.08575	GAC|CAT		0.527	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		6	33	1	0	0.0215528	1	0.0223011	6	33				
CNTN4	152330	broad.mit.edu	37	3	2944593	2944593	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:2944593A>G	ENST00000397461.1	+	11	1495	c.1111A>G	c.(1111-1113)Ata>Gta	p.I371V	CNTN4_ENST00000418658.1_Missense_Mutation_p.I371V|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.I152V|CNTN4_ENST00000397459.2_Missense_Mutation_p.I43V|CNTN4_ENST00000427331.1_Missense_Mutation_p.I371V|CNTN4_ENST00000448906.2_Missense_Mutation_p.I43V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	371	Ig-like C2-type 4.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AACACTCAACATAACAATAGT	0.373																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1111-1113)Ata>Gta		contactin 4							86.0	82.0	83.0					3																	2944593		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2944593A>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1111A>G	3.37:g.2944593A>G	ENSP00000380602:p.Ile371Val					CNTN4_ENST00000397459.2_Missense_Mutation_p.I43V|CNTN4_ENST00000427331.1_Missense_Mutation_p.I371V|CNTN4_ENST00000448906.2_Missense_Mutation_p.I43V|CNTN4_ENST00000358480.3_Missense_Mutation_p.I152V|CNTN4_ENST00000418658.1_Missense_Mutation_p.I371V|CNTN4_ENST00000475817.1_3'UTR	p.I371V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	11	1495	+		Ovarian(110;0.156)	371			Ig-like C2-type 4.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1111A>G	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.601600	0.66445	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906;ENST00000473845	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.91	4.76	0.60689	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.056593	0.64402	D	0.000003	T	0.77046	0.4073	L	0.55103	1.725	0.54753	D	0.999983	B;B;P	0.38048	0.081;0.121;0.616	B;B;B	0.43331	0.204;0.192;0.416	T	0.77112	-0.2708	10	0.62326	D	0.03	.	11.8936	0.52644	0.9322:0.0:0.0678:0.0	.	371;371;371	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	V	371;371;371;152;43;43;49	ENSP00000396010:I371V;ENSP00000380602:I371V;ENSP00000413642:I371V;ENSP00000351267:I152V;ENSP00000380600:I43V;ENSP00000392077:I43V;ENSP00000422120:I49V	ENSP00000351267:I152V	I	+	1	0	CNTN4	2919593	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.941000	0.75922	1.067000	0.40740	0.533000	0.62120	ATA		0.373	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			18	35	0	0	0	1	0	18	35				
ANG	283	broad.mit.edu	37	14	21162089	21162089	+	Silent	SNP	G	G	A	rs369214577		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr14:21162089G>A	ENST00000336811.6	+	2	966	c.366G>A	c.(364-366)gcG>gcA	p.A122A	RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_Intron|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555835.1_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000554073.1_Intron|ANG_ENST00000397990.4_Silent_p.A122A	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	122					actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		GAGCCACAGCGGGGTTCAGAA	0.517																																						ENST00000336811.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5						c.(364-366)gcG>gcA		angiogenin, ribonuclease, RNase A family, 5		G	,,,	0,4406		0,0,2203	109.0	105.0	106.0		366,366,,	-9.9	0.0	14		106	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,intron,intron	ANG,RNASE4	NM_001097577.2,NM_001145.4,NM_002937.3,NM_194431.1	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	122/148,122/148,,	21162089	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	283				actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding	g.chr14:21162089G>A		CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"""Ribonucleases, RNase A"""	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.366G>A	14.37:g.21162089G>A						RNASE4_ENST00000555835.1_Intron|AL163636.6_ENST00000553909.1_RNA|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000554073.1_Intron|ANG_ENST00000397990.4_Silent_p.A122A|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000304704.4_Intron	p.A122A	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)	2	966	+	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	122					Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Silent	SNP	ENST00000336811.6	37	c.366G>A	CCDS9554.1																																																																																				0.517	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073731.3	NM_001097577		26	84	0	0	0	1	0	26	84				
GAMT	2593	broad.mit.edu	37	19	1399013	1399013	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:1399013G>A	ENST00000252288.2	-	5	538	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	GAMT_ENST00000447102.3_Missense_Mutation_p.R158C|AC005329.7_ENST00000501448.1_RNA	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	158	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	TTCAGCAGGCGAAAGGCGTGG	0.627																																					Colon(167;1531 1939 13427 28842 31956)	ENST00000447102.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6						c.(472-474)Cgc>Tgc		guanidinoacetate N-methyltransferase	Creatine(DB00148)						66.0	63.0	64.0					19																	1399013		2203	4300	6503	SO:0001583	missense	2593				creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity	g.chr19:1399013G>A	Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.472C>T	19.37:g.1399013G>A	ENSP00000252288:p.Arg158Cys					GAMT_ENST00000252288.2_Missense_Mutation_p.R158C	p.R158C	NM_138924.2	NP_620279.1	Q14353	GAMT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	565	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)	158					A8K0A0|Q53Y34|Q8WVJ1	Missense_Mutation	SNP	ENST00000252288.2	37	c.472C>T	CCDS12064.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705638	0.48412	.	.	ENSG00000130005	ENST00000252288;ENST00000447102	D;D	0.92805	-3.11;-3.11	4.49	3.45	0.39498	.	0.052835	0.85682	D	0.000000	D	0.95462	0.8526	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	D	0.94980	0.8125	10	0.59425	D	0.04	-32.7841	9.5025	0.39026	0.1055:0.0:0.8945:0.0	.	158;158	A8K0A0;Q14353	.;GAMT_HUMAN	C	158	ENSP00000252288:R158C;ENSP00000403536:R158C	ENSP00000252288:R158C	R	-	1	0	GAMT	1350013	1.000000	0.71417	0.997000	0.53966	0.229000	0.25112	4.682000	0.61671	2.040000	0.60383	0.297000	0.19635	CGC		0.627	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449739.1	NM_138924		7	50	0	0	0	1	0	7	50				
CHD9	80205	broad.mit.edu	37	16	53279747	53279747	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr16:53279747C>G	ENST00000398510.3	+	14	3526	c.3439C>G	c.(3439-3441)Cca>Gca	p.P1147A	CHD9_ENST00000447540.1_Missense_Mutation_p.P1147A|CHD9_ENST00000564845.1_Missense_Mutation_p.P1147A|CHD9_ENST00000566029.1_Missense_Mutation_p.P1147A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1147					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTGTAATCATCCATATCTTAT	0.313																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(3439-3441)Cca>Gca		chromodomain helicase DNA binding protein 9							42.0	42.0	42.0					16																	53279747		1835	4075	5910	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53279747C>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3439C>G	16.37:g.53279747C>G	ENSP00000381522:p.Pro1147Ala					CHD9_ENST00000398510.3_Missense_Mutation_p.P1147A|CHD9_ENST00000447540.1_Missense_Mutation_p.P1147A|CHD9_ENST00000564845.1_Missense_Mutation_p.P1147A	p.P1147A			Q3L8U1	CHD9_HUMAN			15	3648	+		all_cancers(37;0.0212)	1147					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3439C>G		.	.	.	.	.	.	.	.	.	.	C	24.6	4.549637	0.86127	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.80304	-1.36;-1.36	5.8	5.8	0.92144	SNF2-related (1);	0.000000	0.56097	D	0.000028	D	0.93128	0.7812	H	0.94542	3.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.998;0.997	D	0.94267	0.7507	10	0.87932	D	0	-13.0855	20.0545	0.97645	0.0:1.0:0.0:0.0	.	673;1147;1147;1147	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	A	1147;1147;673	ENSP00000396345:P1147A;ENSP00000381522:P1147A	ENSP00000219084:P673A	P	+	1	0	CHD9	51837248	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.770000	0.85390	2.748000	0.94277	0.655000	0.94253	CCA		0.313	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		9	31	0	0	0	1	0	9	31				
HR	55806	broad.mit.edu	37	8	21973240	21973240	+	Silent	SNP	G	G	A	rs372917956		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr8:21973240G>A	ENST00000381418.4	-	19	5023	c.3543C>T	c.(3541-3543)gcC>gcT	p.A1181A	HR_ENST00000312841.8_Silent_p.A1126A	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1181					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ATGTCCCCACGGCCACCTTCA	0.567																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(3541-3543)gcC>gcT		hair growth associated		G	,	0,4406		0,0,2203	144.0	99.0	114.0		3543,3378	-1.3	1.0	8		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HR	NM_005144.4,NM_018411.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1181/1190,1126/1135	21973240	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21973240G>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.3543C>T	8.37:g.21973240G>A						HR_ENST00000312841.8_Silent_p.A1126A	p.A1181A	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	19	5023	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	1181					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.3543C>T	CCDS6022.1																																																																																				0.567	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			10	27	0	0	0	1	0	10	27				
EEF1A2	1917	broad.mit.edu	37	20	62121936	62121936	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr20:62121936C>T	ENST00000298049.7	-	5	995	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	EEF1A2_ENST00000217182.3_Missense_Mutation_p.G309S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	309					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ACATTGAAGCCGACGTTGTCG	0.602																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(925-927)Ggc>Agc		eukaryotic translation elongation factor 1 alpha 2							117.0	107.0	110.0					20																	62121936		2201	4295	6496	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62121936C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.925G>A	20.37:g.62121936C>T	ENSP00000298049:p.Gly309Ser					EEF1A2_ENST00000298049.7_Missense_Mutation_p.G309S	p.G309S	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1090	-	all_cancers(38;9.45e-12)		309					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.925G>A	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398050	0.83120	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.77098	-1.07;-1.07	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.057215	0.64402	D	0.000002	D	0.94003	0.8079	H	0.99881	4.885	0.80722	D	1	D;D	0.89917	1.0;0.96	D;P	0.83275	0.996;0.88	D	0.97216	0.9874	10	0.87932	D	0	-20.9214	16.0768	0.80974	0.0:1.0:0.0:0.0	.	285;309	Q59GP5;Q05639	.;EF1A2_HUMAN	S	309	ENSP00000298049:G309S;ENSP00000217182:G309S	ENSP00000217182:G309S	G	-	1	0	EEF1A2	61592380	1.000000	0.71417	0.879000	0.34478	0.315000	0.28087	7.626000	0.83164	1.847000	0.53656	0.556000	0.70494	GGC		0.602	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		19	129	0	0	0	1	0	19	129				
BRINP3	339479	broad.mit.edu	37	1	190250835	190250835	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:190250835T>A	ENST00000367462.3	-	3	513	c.282A>T	c.(280-282)agA>agT	p.R94S	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	94	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CAAGGAAATTTCTTCTCTCAA	0.398																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(280-282)agA>agT									83.0	79.0	80.0					1																	190250835		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250835T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.282A>T	1.37:g.190250835T>A	ENSP00000356432:p.Arg94Ser					RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron	p.R94S	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			3	513	-	Prostate(682;0.198)		94					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.282A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543084	0.65198	.	.	ENSG00000162670	ENST00000367462	D	0.82984	-1.67	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.88081	0.6341	L	0.46157	1.445	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	D	0.88937	0.3377	10	0.72032	D	0.01	.	14.2271	0.65868	0.0:0.0:0.0:1.0	.	94	Q76B58	FAM5C_HUMAN	S	94	ENSP00000356432:R94S	ENSP00000356432:R94S	R	-	3	2	FAM5C	188517458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.727000	0.47311	2.248000	0.74166	0.477000	0.44152	AGA		0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		24	90	0	0	0	1	0	24	90				
ZNF90	7643	broad.mit.edu	37	19	20229100	20229100	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:20229100C>A	ENST00000418063.2	+	4	849	c.737C>A	c.(736-738)gCa>gAa	p.A246E	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	246					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACCCTTACTGCACATAAGAGA	0.368																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(736-738)gCa>gAa		zinc finger protein 90							37.0	44.0	42.0					19																	20229100		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229100C>A	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.737C>A	19.37:g.20229100C>A	ENSP00000410466:p.Ala246Glu					ZNF90_ENST00000474284.1_Intron	p.A246E	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			4	849	+			246					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.737C>A	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.746170	0.00669	.	.	ENSG00000213988	ENST00000418063	T	0.16897	2.31	1.11	-2.22	0.06952	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	N	0.13352	0.335	0.09310	N	1	B	0.26363	0.147	B	0.32583	0.148	T	0.39210	-0.9625	8	.	.	.	.	2.1362	0.03763	0.5013:0.2298:0.0:0.2689	.	246	Q03938	ZNF90_HUMAN	E	246	ENSP00000410466:A246E	.	A	+	2	0	ZNF90	20090100	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-11.030000	0.00004	-1.287000	0.02381	-1.296000	0.01341	GCA		0.368	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		3	19	1	0	1	1	1	3	19				
FRYL	285527	broad.mit.edu	37	4	48578177	48578177	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr4:48578177C>G	ENST00000503238.1	-	21	2590	c.2591G>C	c.(2590-2592)tGg>tCg	p.W864S	FRYL_ENST00000358350.4_Missense_Mutation_p.W864S|FRYL_ENST00000507711.1_Missense_Mutation_p.W864S|FRYL_ENST00000537810.1_Missense_Mutation_p.W864S|FRYL_ENST00000264319.7_5'UTR|RNU5E-3P_ENST00000515913.1_RNA			O94915	FRYL_HUMAN	FRY-like	864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATAGTTTCTCCACAGGCCAAT	0.438																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2590-2592)tGg>tCg		FRY-like							115.0	116.0	116.0					4																	48578177		1928	4142	6070	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48578177C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2591G>C	4.37:g.48578177C>G	ENSP00000426064:p.Trp864Ser					FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.W864S|FRYL_ENST00000358350.4_Missense_Mutation_p.W864S|FRYL_ENST00000507711.1_Missense_Mutation_p.W864S	p.W864S			O94915	FRYL_HUMAN			24	3195	-			864					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2591G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885256	0.72410	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.75704	-0.05;-0.05;-0.04;-0.96	4.9	4.9	0.64082	.	0.000000	0.64402	U	0.000001	D	0.87095	0.6092	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.85130	0.954;0.997	D	0.89193	0.3552	10	0.87932	D	0	.	18.0772	0.89431	0.0:1.0:0.0:0.0	.	864;864	F2Z2S2;O94915	.;FRYL_HUMAN	S	864	ENSP00000426064:W864S;ENSP00000351113:W864S;ENSP00000441114:W864S;ENSP00000421584:W864S	ENSP00000351113:W864S	W	-	2	0	FRYL	48272934	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.458000	0.80787	2.253000	0.74438	0.467000	0.42956	TGG		0.438	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			19	97	0	0	0	1	0	19	97				
DOCK3	1795	broad.mit.edu	37	3	51101894	51101894	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:51101894C>T	ENST00000266037.9	+	6	354	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	111					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAAGTAGATCTTTTCTACAA	0.408																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(331-333)Ctt>Ttt		dedicator of cytokinesis 3							118.0	117.0	117.0					3																	51101894		1905	4114	6019	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51101894C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.331C>T	3.37:g.51101894C>T	ENSP00000266037:p.Leu111Phe						p.L111F	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	6	354	+			111					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.331C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026928	0.93518	.	.	ENSG00000088538	ENST00000266037	T	0.60171	0.21	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.76586	0.4008	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.73855	-0.3851	10	0.42905	T	0.14	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	111	Q8IZD9	DOCK3_HUMAN	F	111	ENSP00000266037:L111F	ENSP00000266037:L111F	L	+	1	0	DOCK3	51076934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.808000	0.96608	0.650000	0.86243	CTT		0.408	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		12	93	0	0	0	1	0	12	93				
ATP10A	57194	broad.mit.edu	37	15	25959070	25959070	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr15:25959070C>T	ENST00000356865.6	-	10	2206	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	699					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCGGCCTCATCCGGGCTCTCC	0.667																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2095-2097)Gat>Aat		ATPase, class V, type 10A							43.0	42.0	42.0					15																	25959070		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959070C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2095G>A	15.37:g.25959070C>T	ENSP00000349325:p.Asp699Asn						p.D699N	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2206	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	699					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2095G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527484	0.85706	.	.	ENSG00000206190	ENST00000356865	T	0.78481	-1.18	4.5	4.5	0.54988	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	H	0.98664	4.295	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95983	0.8979	10	0.87932	D	0	-27.4643	17.5578	0.87897	0.0:1.0:0.0:0.0	.	699	O60312	AT10A_HUMAN	N	699	ENSP00000349325:D699N	ENSP00000349325:D699N	D	-	1	0	ATP10A	23510163	1.000000	0.71417	0.918000	0.36340	0.436000	0.31835	7.250000	0.78287	2.231000	0.72958	0.561000	0.74099	GAT		0.667	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		17	55	0	0	0	1	0	17	55				
IGHG2	3501	broad.mit.edu	37	14	106110438	106110438	+	RNA	SNP	G	G	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr14:106110438G>A	ENST00000390545.2	-	0	297							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CAACATTTGCGCTCTGCAGAG	0.602																																						ENST00000390545.2																			0																				144.0	140.0	141.0					14																	106110438		2073	4211	6284			3501							g.chr14:106110438G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110438G>A														0	297	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.602	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		43	141	0	0	0	1	0	43	141				
TENM1	10178	broad.mit.edu	37	X	123517884	123517884	+	Silent	SNP	T	T	C			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chrX:123517884T>C	ENST00000371130.3	-	29	6939	c.6876A>G	c.(6874-6876)acA>acG	p.T2292T	TENM1_ENST00000422452.2_Silent_p.T2299T|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2292					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AATACAGAGATGTAATCTCCG	0.438																																						ENST00000422452.2																			0											c.(6895-6897)acA>acG		teneurin transmembrane protein 1							129.0	123.0	125.0					X																	123517884		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123517884T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6876A>G	X.37:g.123517884T>C						TENM1_ENST00000371130.3_Silent_p.T2292T|STAG2_ENST00000469481.1_Intron	p.T2299T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6960	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.6897A>G	CCDS14609.1																																																																																				0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		39	69	0	0	0	1	0	39	69				
KCNT2	343450	broad.mit.edu	37	1	196250051	196250051	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:196250051G>T	ENST00000294725.9	-	25	3764	c.2849C>A	c.(2848-2850)tCt>tAt	p.S950Y	KCNT2_ENST00000367431.4_Missense_Mutation_p.S876Y|KCNT2_ENST00000367433.5_Missense_Mutation_p.S926Y|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.S876Y|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	950					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATCTCCAGTAGAAGAACACAA	0.323																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2776-2778)tCt>tAt		potassium channel, subfamily T, member 2							94.0	96.0	95.0					1																	196250051		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196250051G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2849C>A	1.37:g.196250051G>T	ENSP00000294725:p.Ser950Tyr					KCNT2_ENST00000367431.4_Missense_Mutation_p.S876Y|KCNT2_ENST00000294725.8_Missense_Mutation_p.S950Y|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR	p.S926Y			Q6UVM3	KCNT2_HUMAN			24	2878	-			950					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2777C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268239	0.80469	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.76186	-1.0;-1.0;-1.0	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000013	D	0.85792	0.5779	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.60160	0.978;0.987;0.973;0.987;0.978	P;D;P;P;P	0.63283	0.786;0.913;0.859;0.894;0.786	D	0.86901	0.2054	10	0.72032	D	0.01	-20.8844	18.5703	0.91133	0.0:0.0:1.0:0.0	.	950;908;926;876;950	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	Y	926;876;950	ENSP00000356403:S926Y;ENSP00000356401:S876Y;ENSP00000294725:S950Y	ENSP00000294725:S950Y	S	-	2	0	KCNT2	194516674	1.000000	0.71417	0.934000	0.37439	0.994000	0.84299	7.204000	0.77872	2.753000	0.94483	0.557000	0.71058	TCT		0.323	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		7	58	1	0	2.0095e-06	1	2.15407e-06	7	58				
ENPP3	5169	broad.mit.edu	37	6	132059223	132059223	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr6:132059223A>T	ENST00000414305.1	+	24	2548	c.2220A>T	c.(2218-2220)agA>agT	p.R740S	ENPP3_ENST00000357639.3_Missense_Mutation_p.R740S|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	740	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCACAGAAAGAAATGGAGTAA	0.313																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2218-2220)agA>agT		ectonucleotide pyrophosphatase/phosphodiesterase 3							111.0	121.0	117.0					6																	132059223		2202	4298	6500	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132059223A>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2220A>T	6.37:g.132059223A>T	ENSP00000406261:p.Arg740Ser					ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.R740S	p.R740S			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	24	2548	+	Breast(56;0.0753)		740			Nuclease.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.2220A>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.278026	0.80692	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.65916	-0.18;-0.18	6.08	6.08	0.98989	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.132588	0.52532	D	0.000063	T	0.68302	0.2986	M	0.75447	2.3	0.80722	D	1	D	0.59357	0.985	D	0.64410	0.925	T	0.73059	-0.4102	10	0.49607	T	0.09	-19.9847	9.0706	0.36491	0.8939:0.0:0.1061:0.0	.	740	O14638	ENPP3_HUMAN	S	740	ENSP00000406261:R740S;ENSP00000350265:R740S	ENSP00000350265:R740S	R	+	3	2	ENPP3	132100916	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.050000	0.41297	2.333000	0.79357	0.482000	0.46254	AGA		0.313	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			15	69	0	0	0	1	0	15	69				
PARD3B	117583	broad.mit.edu	37	2	206480461	206480461	+	Missense_Mutation	SNP	G	G	T	rs374968951		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr2:206480461G>T	ENST00000406610.2	+	23	3749	c.3542G>T	c.(3541-3543)cGt>cTt	p.R1181L	PARD3B_ENST00000349953.3_Missense_Mutation_p.R1080L|PARD3B_ENST00000358768.2_Missense_Mutation_p.R1119L|PARD3B_ENST00000351153.1_Missense_Mutation_p.R1112L|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1181					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGGGCCCCGTGGGGGCAGC	0.627																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(3541-3543)cGt>cTt		par-3 family cell polarity regulator beta							57.0	66.0	63.0					2																	206480461		1900	4112	6012	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480461G>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3542G>T	2.37:g.206480461G>T	ENSP00000385848:p.Arg1181Leu					PARD3B_ENST00000349953.3_Missense_Mutation_p.R1080L|PARD3B_ENST00000351153.1_Missense_Mutation_p.R1112L|PARD3B_ENST00000358768.2_Missense_Mutation_p.R1119L|PARD3B_ENST00000488622.1_3'UTR	p.R1181L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3749	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1181					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.3542G>T		.	.	.	.	.	.	.	.	.	.	G	12.23	1.875900	0.33162	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.16897	2.54;2.31;2.48;2.42	5.87	2.13	0.27403	.	0.728158	0.11958	N	0.513062	T	0.22820	0.0551	L	0.55481	1.735	0.22796	N	0.998726	P;P;P;P	0.42973	0.796;0.546;0.725;0.675	B;B;P;B	0.46144	0.4;0.226;0.505;0.321	T	0.10086	-1.0645	10	0.87932	D	0	.	9.4134	0.38505	0.2731:0.0:0.7269:0.0	.	1181;1112;1119;1080	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	L	1181;1119;1112;1080	ENSP00000385848:R1181L;ENSP00000351618:R1119L;ENSP00000317261:R1112L;ENSP00000340280:R1080L	ENSP00000340280:R1080L	R	+	2	0	PARD3B	206188706	0.195000	0.23338	0.248000	0.24265	0.424000	0.31475	0.334000	0.19787	0.120000	0.18254	0.650000	0.86243	CGT		0.627	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		16	101	1	0	7.05477e-17	1	8.27685e-17	16	101				
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1186-1188)del		serine/arginine-rich splicing factor 4				32,4234		1,30,2102						4.8	1.0			113	49,8205		3,43,4081	no	coding	SRSF4	NM_005626.4		4,73,6183	A1A1,A1R,RR		0.5937,0.7501,0.647				81,12439				SO:0001651	inframe_deletion	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475219_29475221delCTT	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1186_1188delAAG	1.37:g.29475228_29475230delCTT	ENSP00000362900:p.Lys396del					SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	p.K396del	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1420_1422	-			396			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	In_Frame_Del	DEL	ENST00000373795.4	37	c.1186_1188delAAG	CCDS333.1																																																																																				0.601	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		8	208						8	208	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197552285	197552285	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr1:197552285delC	ENST00000367396.3	-	15	1315	c.1146delG	c.(1144-1146)aagfs	p.K382fs	DENND1B_ENST00000400967.2_Frame_Shift_Del_p.K352fs|DENND1B_ENST00000235453.4_Frame_Shift_Del_p.K352fs	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	382	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K352K(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CTCTTACCTGCTTAAAAAGCT	0.403																																						ENST00000235453.4																			1	Substitution - coding silent(1)	p.K352K(1)	NS(1)	NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						c.(1054-1056)aafs		DENN/MADD domain containing 1B							94.0	93.0	93.0					1																	197552285		1850	4093	5943	SO:0001589	frameshift_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197552285delC	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1146delG	1.37:g.197552285delC	ENSP00000356366:p.Lys382fs					DENND1B_ENST00000367396.3_Frame_Shift_Del_p.K382fs|DENND1B_ENST00000400967.2_Frame_Shift_Del_p.K352fs	p.K352fs			Q6P3S1	DEN1B_HUMAN			15	1333	-			382			dDENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Frame_Shift_Del	DEL	ENST00000367396.3	37	c.1056delG	CCDS41452.2																																																																																				0.403	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		21	80						21	80	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gat>ga		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	p.DD541del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			7	164						7	164	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aaattcfs	p.F534fs	KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.F414fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.F534fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	534					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTCCTTGAATTTTTTTTTAT	0.455																																						ENST00000388996.4																			1	Substitution - Missense(1)	p.F534I(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1597-1602)aatcaafs		potassium voltage-gated channel, KQT-like subfamily, member 3																																				SO:0001589	frameshift_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150232_133150233insT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1600dupA	8.37:g.133150241_133150241dupT	ENSP00000373648:p.Phe534fs					KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs	p.NQ533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2019_2020	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		533					A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Ins	INS	ENST00000388996.4	37	c.1599_1600insA	CCDS34943.1																																																																																				0.455	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		9	201						9	201	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	lincRNA	DEL	A	A	-	rs368616794|rs199855162|rs56683069		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373																																						ENST00000445604.2																			0																																																			403323							g.chr9:66545695delA																													9.37:g.66545695delA														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			2	4						2	4	---	---	---	---
GNG13	51764	broad.mit.edu	37	16	849043	849046	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr16:849043_849046delTCTT	ENST00000248150.4	-	2	133_136	c.32_35delAAGA	c.(31-36)aaagagfs	p.KE11fs		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	11					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|sensory perception of taste (GO:0050909)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			ovary(1)	1		Hepatocellular(780;0.00335)				GCTCTCCACCTCTTTCTTCATCTG	0.623																																						ENST00000248150.4																			0				ovary(1)	1						c.(31-36)agfs		guanine nucleotide binding protein (G protein), gamma 13																																				SO:0001589	frameshift_variant	51764				cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity	g.chr16:849043_849046delTCTT	AB030207	CCDS10427.1	16p13.3	2008-08-01			ENSG00000127588	ENSG00000127588			14131	protein-coding gene	gene with protein product	"""G gamma subunit, clone:h2-35"""	607298				10570481	Standard	NM_016541		Approved	h2-35, G(gamma)13	uc002ckh.4	Q9P2W3	OTTHUMG00000047839	ENST00000248150.4:c.32_35delAAGA	16.37:g.849047_849050delTCTT	ENSP00000248150:p.Lys11fs						p.KE11fs	NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN			2	133_136	-		Hepatocellular(780;0.00335)	11					B2R5C8|Q52LX0|Q9UJJ3	Frame_Shift_Del	DEL	ENST00000248150.4	37	c.32_35delAAGA	CCDS10427.1																																																																																				0.623	GNG13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109062.3	NM_016541		9	43						9	43	---	---	---	---
LINC00482	284185	broad.mit.edu	37	17	79279019	79279020	+	lincRNA	INS	-	-	C	rs185100858|rs3215153	byFrequency	TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr17:79279019_79279020insC	ENST00000332012.5	-	0	573_574					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482																		CCCAGGCACAGCCCCTGAGGCA	0.673													CCCC|CCCC|CCCCC|insertion	348	0.0694888	0.0091	0.0389	5008	,	,		17826	0.1379		0.0944	False		,,,				2504	0.0767					ENST00000332012.5																			0																	70,3778		6,58,1860						1.4	0.0		dbSNP_106	9	743,7211		62,619,3296	no	intergenic				68,677,5156	A1A1,A1R,RR		9.3412,1.8191,6.8887				813,10989						284185							g.chr17:79279019_79279020insC	AK096740		17q25.3	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	26816	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 55"""	C17orf55			Standard	NR_038080		Approved	FLJ39421	uc002kac.1	Q8N8I6			17.37:g.79279023_79279023dupC								NR_038080.1						0	573_574	-									RNA	INS	ENST00000332012.5	37																																																																																						0.673	LINC00482-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439605.1	NM_178519		6	10						6	10	---	---	---	---
MBOAT7	79143	broad.mit.edu	37	19	54678110	54678111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr19:54678110_54678111insA	ENST00000245615.1	-	8	1526_1527	c.1046_1047insT	c.(1045-1047)atgfs	p.M349fs	MBOAT7_ENST00000338624.6_Frame_Shift_Ins_p.M276fs|MBOAT7_ENST00000431666.2_Frame_Shift_Ins_p.M276fs|TMC4_ENST00000376591.4_5'Flank|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	349					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCTCAGCAGCATGGTCCAGGC	0.688																																					NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(1045-1047)actfs		membrane bound O-acyltransferase domain containing 7																																				SO:0001589	frameshift_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54678110_54678111insA	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1047dupT	19.37:g.54678111_54678111dupA	ENSP00000245615:p.Met349fs					MBOAT7_ENST00000338624.6_Frame_Shift_Ins_p.T276fs|MBOAT7_ENST00000431666.2_Frame_Shift_Ins_p.T276fs	p.T349fs	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN			8	1526_1527	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		349					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Frame_Shift_Ins	INS	ENST00000245615.1	37	c.1046_1047insT	CCDS12883.1																																																																																				0.688	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		9	51						9	51	---	---	---	---
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	lincRNA	INS	-	-	T	rs34195125		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347																																						ENST00000420186.2																			0																																																			0							g.chr21:28793489_28793490insT																													21.37:g.28793500_28793500dupT														0	202	-									RNA	INS	ENST00000420186.2	37																																																																																						0.347	AP001604.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171665.2			3	6						3	6	---	---	---	---
SLC5A4	6527	broad.mit.edu	37	22	32614394	32614401	+	IGR	DEL	AAAAAAAA	AAAAAAAA	-	rs55868874|rs71184564		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chr22:32614394_32614401delAAAAAAAA	ENST00000266086.4	-	0	2028				RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4						carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						actccctctcaaaaaaaaaaaaaaaaaa	0.385																																						ENST00000434942.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr22:32614394_32614401delAAAAAAAA	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007		22.37:g.32614402_32614409delAAAAAAAA														0	274	+								O15279	RNA	DEL	ENST00000266086.4	37		CCDS13903.1																																																																																				0.385	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		2	4						2	4	---	---	---	---
NONO	4841	broad.mit.edu	37	X	70511784	70511787	+	Frame_Shift_Del	DEL	TTCA	TTCA	-			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2746527-5f39-47a2-ba05-4ff608616b57	887def3d-1332-4ddb-b05b-a79450f9e4f5	g.chrX:70511784_70511787delTTCA	ENST00000276079.8	+	4	515_518	c.310_313delTTCA	c.(310-315)ttcattfs	p.FI104fs	NONO_ENST00000373856.3_Frame_Shift_Del_p.FI104fs|NONO_ENST00000535149.1_Frame_Shift_Del_p.FI15fs|NONO_ENST00000373841.1_Frame_Shift_Del_p.FI104fs	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	104	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGGCGAAGTCTTCATTCATAAGGA	0.441			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(43-48)ttfs		non-POU domain containing, octamer-binding																																				SO:0001589	frameshift_variant	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70511784_70511787delTTCA	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.310_313delTTCA	X.37:g.70511788_70511791delTTCA	ENSP00000276079:p.Phe104fs					NONO_ENST00000373856.3_Frame_Shift_Del_p.FI104fs|NONO_ENST00000276079.8_Frame_Shift_Del_p.FI104fs|NONO_ENST00000373841.1_Frame_Shift_Del_p.FI104fs	p.FI15fs	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			2	686_689	+	Renal(35;0.156)		104					B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Frame_Shift_Del	DEL	ENST00000276079.8	37	c.43_46delTTCA	CCDS14410.1																																																																																				0.441	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		27	80						27	80	---	---	---	---
