#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
NHEJ1	79840	broad.mit.edu	37	2	219942055	219942055	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:219942055C>A	ENST00000356853.5	-	7	871	c.738G>T	c.(736-738)ctG>ctT	p.L246L	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Silent_p.L246L	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	246					B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CGATTCCTTGCAGGGAAGCAC	0.463								Non-homologous end-joining																														ENST00000356853.5																			0				kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12						c.(736-738)ctG>ctT	Non-homologous end-joining	nonhomologous end-joining factor 1							189.0	166.0	174.0					2																	219942055		2203	4300	6503	SO:0001819	synonymous_variant	79840				B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	g.chr2:219942055C>A	AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.738G>T	2.37:g.219942055C>A						NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Silent_p.L246L	p.L246L	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	7	871	-		Renal(207;0.0915)	246					B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Silent	SNP	ENST00000356853.5	37	c.738G>T	CCDS2432.1																																																																																				0.463	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2	NM_024782		12	31	1	0	6.53275e-17	1	7.79575e-17	12	31				
WDR7	23335	broad.mit.edu	37	18	54385306	54385306	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:54385306C>G	ENST00000254442.3	+	13	1901	c.1690C>G	c.(1690-1692)Caa>Gaa	p.Q564E	WDR7_ENST00000357574.3_Missense_Mutation_p.Q564E|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	564					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTTCCTATTCAAGTAATCAA	0.443																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1690-1692)Caa>Gaa		WD repeat domain 7							193.0	173.0	179.0					18																	54385306		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54385306C>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1690C>G	18.37:g.54385306C>G	ENSP00000254442:p.Gln564Glu					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.Q564E	p.Q564E	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	13	1901	+			564					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1690C>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672405	0.67928	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.58210	0.35;0.35	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.111980	0.64402	D	0.000007	T	0.36386	0.0965	N	0.08118	0	0.58432	D	0.999998	P;P	0.44281	0.831;0.625	B;B	0.40101	0.319;0.197	T	0.25117	-1.0141	10	0.30078	T	0.28	.	19.1709	0.93576	0.0:1.0:0.0:0.0	.	564;564	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	E	564	ENSP00000254442:Q564E;ENSP00000350187:Q564E	ENSP00000254442:Q564E	Q	+	1	0	WDR7	52536304	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.717000	0.84732	2.632000	0.89209	0.655000	0.94253	CAA		0.443	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			38	20	0	0	0	1	0	38	20				
OBSCN	84033	broad.mit.edu	37	1	228505639	228505639	+	Silent	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:228505639C>T	ENST00000422127.1	+	53	13940	c.13896C>T	c.(13894-13896)agC>agT	p.S4632S	OBSCN_ENST00000570156.2_Silent_p.S5589S|OBSCN_ENST00000366707.4_Silent_p.S2266S|OBSCN_ENST00000284548.11_Silent_p.S4632S|OBSCN_ENST00000366709.4_Silent_p.S1751S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4632	Ig-like 47.				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)				CCCCTGAGAGCCGGCAGGTGG	0.642																																						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.(16765-16767)agC>agT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							31.0	35.0	34.0					1																	228505639		2015	4184	6199	SO:0001819	synonymous_variant	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.chr1:228505639C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13896C>T	1.37:g.228505639C>T						OBSCN_ENST00000284548.11_Silent_p.S4632S|OBSCN_ENST00000366709.4_Silent_p.S1751S|OBSCN_ENST00000366707.4_Silent_p.S2266S|OBSCN_ENST00000422127.1_Silent_p.S4632S	p.S5589S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			64	16841	+		Prostate(94;0.0405)	4632					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.16767C>T	CCDS58065.1																																																																																				0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	45	0	0	0	1	0	20	45				
MMS19	64210	broad.mit.edu	37	10	99237134	99237134	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:99237134T>C	ENST00000438925.2	-	6	798	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.I155V|MMS19_ENST00000327238.10_Missense_Mutation_p.I155V|MMS19_ENST00000355839.6_Missense_Mutation_p.I155V|MMS19_ENST00000483626.1_5'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	155					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAATTGGTGATGATATTGTAG	0.468								Direct reversal of damage																														ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(463-465)Atc>Gtc	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							132.0	127.0	129.0					10																	99237134		2203	4300	6503	SO:0001583	missense	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99237134T>C	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.463A>G	10.37:g.99237134T>C	ENSP00000412698:p.Ile155Val					MMS19_ENST00000370782.2_Missense_Mutation_p.I155V|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.I155V|MMS19_ENST00000355839.6_Missense_Mutation_p.I155V	p.I155V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	6	798	-		Colorectal(252;0.0846)	155					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	c.463A>G	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188428	0.57909	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839;ENST00000437002;ENST00000422685	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.2;-0.2;1.27;3.51	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.052001	0.85682	D	0.000000	T	0.58104	0.2099	L	0.38953	1.18	0.80722	D	1	P;B	0.40834	0.73;0.11	B;B	0.38803	0.282;0.093	T	0.58399	-0.7643	10	0.33141	T	0.24	.	15.7277	0.77774	0.0:0.0:0.0:1.0	.	176;155	B4DQX2;Q96T76	.;MMS19_HUMAN	V	155;155;155;134;155;155;194	ENSP00000412698:I155V;ENSP00000359818:I155V;ENSP00000320059:I155V;ENSP00000348097:I155V;ENSP00000409425:I155V;ENSP00000391765:I194V	ENSP00000320059:I155V	I	-	1	0	MMS19	99227124	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.941000	0.70195	2.122000	0.65172	0.533000	0.62120	ATC		0.468	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			35	32	0	0	0	1	0	35	32				
MTCL1	23255	broad.mit.edu	37	18	8824761	8824761	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:8824761G>C	ENST00000306329.11	+	13	4210	c.4210G>C	c.(4210-4212)Gag>Cag	p.E1404Q	SOGA2_ENST00000517570.1_Missense_Mutation_p.E1044Q|SOGA2_ENST00000306285.7_Missense_Mutation_p.E410Q|SOGA2_ENST00000518815.1_Missense_Mutation_p.E410Q|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1044Q|SOGA2_ENST00000359865.3_Missense_Mutation_p.E1085Q																							CTTCCTGCCTGAGAAGGGCCT	0.577																																						ENST00000359865.3																			0											c.(3253-3255)Gag>Cag		SOGA family member 2							73.0	56.0	62.0					18																	8824761		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8824761G>C																												ENST00000306329.11:c.4210G>C	18.37:g.8824761G>C	ENSP00000305027:p.Glu1404Gln					SOGA2_ENST00000400050.3_Missense_Mutation_p.E1044Q|SOGA2_ENST00000306285.7_Missense_Mutation_p.E410Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1404Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1044Q|SOGA2_ENST00000518815.1_Missense_Mutation_p.E410Q	p.E1085Q	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	3395	+			1395						Missense_Mutation	SNP	ENST00000306329.11	37	c.3253G>C		.	.	.	.	.	.	.	.	.	.	G	21.0	4.087899	0.76642	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.41	5.41	0.78517	.	0.140255	0.33161	N	0.005208	T	0.51312	0.1667	L	0.59436	1.845	0.49483	D	0.999791	D;D	0.71674	0.998;0.993	P;P	0.62089	0.898;0.854	T	0.48258	-0.9051	10	0.51188	T	0.08	-24.8	19.2076	0.93739	0.0:0.0:1.0:0.0	.	1395;1085	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	Q	1106;1044;1085;1044;410	ENSP00000429556:E1044Q;ENSP00000352927:E1085Q;ENSP00000382924:E1044Q;ENSP00000303670:E410Q	ENSP00000303670:E410Q	E	+	1	0	CCDC165	8814761	1.000000	0.71417	0.994000	0.49952	0.915000	0.54546	9.869000	0.99810	2.517000	0.84864	0.650000	0.86243	GAG		0.577	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			21	30	0	0	0	1	0	21	30				
TNKS2	80351	broad.mit.edu	37	10	93579718	93579718	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:93579718C>T	ENST00000371627.4	+	6	1035	c.656C>T	c.(655-657)gCa>gTa	p.A219V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	219					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CATTTGGCAGCAGGATATAAC	0.323																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(655-657)gCa>gTa		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							108.0	113.0	111.0					10																	93579718		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93579718C>T	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.656C>T	10.37:g.93579718C>T	ENSP00000360689:p.Ala219Val						p.A219V	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			6	1035	+		Colorectal(252;0.162)	219					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.656C>T	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400999	0.96030	.	.	ENSG00000107854	ENST00000371627	T	0.69306	-0.39	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.208487	0.33217	N	0.005158	T	0.77718	0.4172	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78237	-0.2282	10	0.56958	D	0.05	.	19.3041	0.94153	0.0:1.0:0.0:0.0	.	219	Q9H2K2	TNKS2_HUMAN	V	219	ENSP00000360689:A219V	ENSP00000360689:A219V	A	+	2	0	TNKS2	93569698	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.772000	0.85439	2.561000	0.86390	0.557000	0.71058	GCA		0.323	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		27	33	0	0	0	1	0	27	33				
AKAP17A	8227	broad.mit.edu	37	X	1719886	1719886	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:1719886C>G	ENST00000313871.3	+	5	1683	c.1487C>G	c.(1486-1488)cCc>cGc	p.P496R		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	496					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GCCGGTGCCCCCAAGGAGAGC	0.716																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(1486-1488)cCc>cGc		A kinase (PRKA) anchor protein 17A							12.0	14.0	13.0					X																	1719886		2188	4257	6445	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1719886C>G	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1487C>G	X.37:g.1719886C>G	ENSP00000324827:p.Pro496Arg						p.P496R	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			5	1683	+			496					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.1487C>G	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	c	10.11	1.261040	0.23051	.	.	ENSG00000197976	ENST00000313871	T	0.41065	1.01	1.56	-1.4	0.08968	.	1.085560	0.07420	U	0.893801	T	0.30262	0.0759	.	.	.	0.09310	N	0.999995	P	0.45827	0.867	P	0.50082	0.63	T	0.30238	-0.9985	9	0.15066	T	0.55	.	1.2269	0.01935	0.2718:0.405:0.157:0.1661	.	496	Q02040	AK17A_HUMAN	R	496	ENSP00000324827:P496R	ENSP00000324827:P496R	P	+	2	0	AKAP17A	1679886	0.000000	0.05858	0.045000	0.18777	0.138000	0.21146	0.550000	0.23345	0.533000	0.28675	0.367000	0.22151	CCC		0.716	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		7	12	0	0	0	1	0	7	12				
TCP10L	140290	broad.mit.edu	37	21	33949207	33949207	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr21:33949207A>C	ENST00000300258.3	-	5	638	c.525T>G	c.(523-525)atT>atG	p.I175M	LINC00846_ENST00000334165.4_lincRNA|TCP10L_ENST00000472557.1_Missense_Mutation_p.I89M	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	175					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCCACGAGCTAATTCTTTCTA	0.353																																						ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(523-525)atT>atG		t-complex 10-like							85.0	85.0	85.0					21																	33949207		2203	4300	6503	SO:0001583	missense	140290							g.chr21:33949207A>C	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.525T>G	21.37:g.33949207A>C	ENSP00000300258:p.Ile175Met					TCP10L_ENST00000491828.1_5'UTR	p.I175M	NM_144659.5	NP_653260.1					5	638	-								Q53EW0|Q96LN5	Missense_Mutation	SNP	ENST00000300258.3	37	c.525T>G	CCDS13616.1	.	.	.	.	.	.	.	.	.	.	A	4.384	0.070764	0.08436	.	.	ENSG00000242220	ENST00000300258	T	0.17528	2.27	0.571	-0.708	0.11241	.	.	.	.	.	T	0.24044	0.0582	L	0.45581	1.43	0.09310	N	1	D	0.62365	0.991	P	0.59424	0.857	T	0.12941	-1.0528	8	0.45353	T	0.12	.	.	.	.	.	175	Q8TDR4	TCP1L_HUMAN	M	175	ENSP00000300258:I175M	ENSP00000300258:I175M	I	-	3	3	TCP10L	32871078	0.019000	0.18553	0.008000	0.14137	0.004000	0.04260	-0.079000	0.11357	-0.340000	0.08388	0.338000	0.21704	ATT		0.353	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		74	9	0	0	0	1	0	74	9				
PLD1	5337	broad.mit.edu	37	3	171405194	171405194	+	Missense_Mutation	SNP	C	C	G	rs192083943		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:171405194C>G	ENST00000351298.4	-	15	1846	c.1720G>C	c.(1720-1722)Gca>Cca	p.A574P	PLD1_ENST00000342215.6_Intron|PLD1_ENST00000356327.5_Missense_Mutation_p.A574P|PLD1_ENST00000340989.4_Missense_Mutation_p.A574P	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	574	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATGCTATCTGCGTCGTGCAGG	0.438																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1720-1722)Gca>Cca		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						151.0	144.0	147.0					3																	171405194		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171405194C>G	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1720G>C	3.37:g.171405194C>G	ENSP00000342793:p.Ala574Pro					PLD1_ENST00000340989.4_Missense_Mutation_p.A574P|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000351298.4_Missense_Mutation_p.A574P	p.A574P	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		15	1790	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		574			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1720G>C	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073887	0.36566	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.08282	3.33;3.29;3.11	5.15	-0.409	0.12378	.	0.805809	0.11571	N	0.550770	T	0.07369	0.0186	L	0.47190	1.495	0.23260	N	0.998024	B;B	0.14805	0.011;0.003	B;B	0.14578	0.011;0.007	T	0.38200	-0.9672	10	0.30078	T	0.28	-1.147	6.4403	0.21847	0.3556:0.5058:0.0:0.1385	.	597;574	Q59EA4;Q13393	.;PLD1_HUMAN	P	574	ENSP00000348681:A574P;ENSP00000342793:A574P;ENSP00000340326:A574P	ENSP00000340326:A574P	A	-	1	0	PLD1	172887888	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-0.720000	0.04969	-0.321000	0.08627	0.563000	0.77884	GCA		0.438	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		11	66	0	0	0	1	0	11	66				
AUTS2	26053	broad.mit.edu	37	7	69064895	69064895	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:69064895G>C	ENST00000342771.4	+	1	577	c.256G>C	c.(256-258)Gac>Cac	p.D86H	AUTS2_ENST00000406775.2_Missense_Mutation_p.D86H|AUTS2_ENST00000403018.2_Missense_Mutation_p.D86H|RP5-942I16.1_ENST00000436600.2_lincRNA	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	86										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCAGAAGAGGACATCATTGA	0.627																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(256-258)Gac>Cac		autism susceptibility candidate 2							26.0	27.0	27.0					7																	69064895		2161	4176	6337	SO:0001583	missense	26053							g.chr7:69064895G>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.256G>C	7.37:g.69064895G>C	ENSP00000344087:p.Asp86His					AUTS2_ENST00000406775.2_Missense_Mutation_p.D86H|AUTS2_ENST00000403018.2_Missense_Mutation_p.D86H	p.D86H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	1	577	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	86					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.256G>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958742	0.74016	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.55930	0.49;0.51	3.56	3.56	0.40772	.	0.000000	0.43747	U	0.000522	T	0.60869	0.2302	L	0.34521	1.04	0.46222	D	0.998931	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.60281	-0.7294	9	.	.	.	.	15.6012	0.76626	0.0:0.0:1.0:0.0	.	86;86;86	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	H	86	ENSP00000385263:D86H;ENSP00000344087:D86H	.	D	+	1	0	AUTS2	68702831	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.338000	0.90038	1.925000	0.55765	0.563000	0.77884	GAC		0.627	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			12	41	0	0	0	1	0	12	41				
PIGQ	9091	broad.mit.edu	37	16	624086	624086	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:624086G>T	ENST00000026218.5	+	2	100	c.12G>T	c.(10-12)aaG>aaT	p.K4N	PIGQ_ENST00000321878.5_Missense_Mutation_p.K4N|PIGQ_ENST00000409527.2_Missense_Mutation_p.K4N|PIGQ_ENST00000470411.2_Missense_Mutation_p.K4N	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	4					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGTGCTCAAGGCCTTCTTCC	0.692																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(10-12)aaG>aaT		phosphatidylinositol glycan anchor biosynthesis, class Q							51.0	47.0	48.0					16																	624086		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624086G>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.12G>T	16.37:g.624086G>T	ENSP00000026218:p.Lys4Asn					PIGQ_ENST00000026218.5_Missense_Mutation_p.K4N|PIGQ_ENST00000409527.2_Missense_Mutation_p.K4N|PIGQ_ENST00000470411.2_Missense_Mutation_p.K4N	p.K4N	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			2	171	+		Hepatocellular(780;0.00335)	4					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.12G>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420182	0.83559	.	.	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.58210	0.48;0.35;0.46;0.4;0.35;0.52;1.61;0.42	5.17	4.2	0.49525	.	0.046129	0.85682	D	0.000000	T	0.67850	0.2937	M	0.63843	1.955	0.53688	D	0.999976	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.79784	0.922;0.922;0.913;0.993	T	0.71230	-0.4654	10	0.87932	D	0	-34.3656	13.0672	0.59041	0.0795:0.0:0.9205:0.0	.	18;4;4;4	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	N	4	ENSP00000293874:K4N;ENSP00000386760:K4N;ENSP00000386554:K4N;ENSP00000413753:K4N;ENSP00000326674:K4N;ENSP00000387820:K4N;ENSP00000026218:K4N;ENSP00000439650:K4N	ENSP00000026218:K4N	K	+	3	2	PIGQ	564087	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.402000	0.52608	2.409000	0.81822	0.511000	0.50034	AAG		0.692	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		7	43	1	0	0.00307968	1	0.00318649	7	43				
SAMD14	201191	broad.mit.edu	37	17	48195666	48195666	+	Silent	SNP	C	C	T	rs145637965		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:48195666C>T	ENST00000330175.4	-	3	386	c.69G>A	c.(67-69)acG>acA	p.T23T	SAMD14_ENST00000503131.1_Silent_p.T23T|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	23										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CCAGTCTGGCCGTCTCTGGCA	0.662																																						ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(67-69)acG>acA		sterile alpha motif domain containing 14							33.0	36.0	35.0					17																	48195666		2203	4300	6503	SO:0001819	synonymous_variant	201191							g.chr17:48195666C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.69G>A	17.37:g.48195666C>T						SAMD14_ENST00000503131.1_Silent_p.T23T|SAMD14_ENST00000503734.1_5'UTR	p.T23T	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			3	386	-			23					A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	37	c.69G>A	CCDS58562.1																																																																																				0.662	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		22	36	0	0	0	1	0	22	36				
SPAG17	200162	broad.mit.edu	37	1	118629562	118629562	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:118629562C>G	ENST00000336338.5	-	11	1494	c.1429G>C	c.(1429-1431)Gac>Cac	p.D477H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	477						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTCTGTGGTCTAGCCCGTCT	0.517																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1429-1431)Gac>Cac		sperm associated antigen 17							141.0	133.0	136.0					1																	118629562		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118629562C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1429G>C	1.37:g.118629562C>G	ENSP00000337804:p.Asp477His						p.D477H	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	11	1494	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	477					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1429G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710859	0.68730	.	.	ENSG00000155761	ENST00000336338	T	0.27256	1.68	5.19	5.19	0.71726	.	0.140987	0.64402	D	0.000010	T	0.25121	0.0610	L	0.46157	1.445	0.32193	N	0.578819	P	0.50943	0.94	P	0.56434	0.798	T	0.01998	-1.1232	10	0.35671	T	0.21	.	13.7305	0.62785	0.0:0.8457:0.1543:0.0	.	477	Q6Q759	SPG17_HUMAN	H	477	ENSP00000337804:D477H	ENSP00000337804:D477H	D	-	1	0	SPAG17	118431085	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.549000	0.45803	2.587000	0.87381	0.563000	0.77884	GAC		0.517	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		34	74	0	0	0	1	0	34	74				
MYH2	4620	broad.mit.edu	37	17	10428651	10428651	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:10428651G>T	ENST00000245503.5	-	33	4936	c.4552C>A	c.(4552-4554)Ctc>Atc	p.L1518I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1518I|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1518					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTTCCGTGAGGTCAGAAATC	0.383																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4552-4554)Ctc>Atc		myosin, heavy chain 2, skeletal muscle, adult							96.0	85.0	89.0					17																	10428651		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428651G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4552C>A	17.37:g.10428651G>T	ENSP00000245503:p.Leu1518Ile					CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1518I	p.L1518I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			33	4936	-			1518					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4552C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366653	0.61513	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82893	-1.66;-1.66	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.30859	U	0.008736	D	0.90338	0.6977	M	0.92122	3.275	0.48975	D	0.999733	P	0.39071	0.658	P	0.45639	0.488	D	0.91982	0.5595	10	0.66056	D	0.02	.	18.9276	0.92552	0.0:0.0:1.0:0.0	.	1518	Q9UKX2	MYH2_HUMAN	I	1518	ENSP00000245503:L1518I;ENSP00000380367:L1518I	ENSP00000245503:L1518I	L	-	1	0	MYH2	10369376	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.742000	0.62103	2.713000	0.92767	0.591000	0.81541	CTC		0.383	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		31	31	1	0	4.02929e-09	1	4.56482e-09	31	31				
WDR88	126248	broad.mit.edu	37	19	33666381	33666381	+	Missense_Mutation	SNP	G	G	A	rs575618079		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:33666381G>A	ENST00000355868.3	+	11	1398	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	AC008738.2_ENST00000577275.1_RNA|WDR88_ENST00000361680.2_3'UTR|CTD-2540B15.10_ENST00000590117.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	441										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GTGTTCTGCCGGATAGATACA	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20554	0.0		0.0	False		,,,				2504	0.0					ENST00000355868.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1321-1323)cGg>cAg		WD repeat domain 88							161.0	151.0	154.0					19																	33666381		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33666381G>A	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1322G>A	19.37:g.33666381G>A	ENSP00000348129:p.Arg441Gln					WDR88_ENST00000361680.2_3'UTR	p.R441Q	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN			11	1398	+	Esophageal squamous(110;0.137)		441					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.1322G>A	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073433	0.76415	.	.	ENSG00000166359	ENST00000355868	T	0.57752	0.38	4.92	4.92	0.64577	.	2.946480	0.01041	N	0.004312	T	0.74261	0.3693	M	0.66939	2.045	0.31192	N	0.700831	D	0.89917	1.0	D	0.87578	0.998	T	0.57004	-0.7885	10	0.30854	T	0.27	.	13.4881	0.61377	0.0:0.0:1.0:0.0	.	441	Q6ZMY6	WDR88_HUMAN	Q	441	ENSP00000348129:R441Q	ENSP00000348129:R441Q	R	+	2	0	WDR88	38358221	0.991000	0.36638	0.992000	0.48379	0.489000	0.33432	1.708000	0.37899	2.549000	0.85964	0.561000	0.74099	CGG		0.483	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		72	33	0	0	0	1	0	72	33				
EIF5	1983	broad.mit.edu	37	14	103802403	103802403	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:103802403G>A	ENST00000216554.3	+	4	779	c.103G>A	c.(103-105)Gtt>Att	p.V35I	EIF5_ENST00000558506.1_Missense_Mutation_p.V35I|EIF5_ENST00000392715.2_Missense_Mutation_p.V35I|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000560200.1_Intron	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	35					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AATCAAGACAGTTATAGTCAA	0.398																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(103-105)Gtt>Att		eukaryotic translation initiation factor 5							73.0	66.0	68.0					14																	103802403		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103802403G>A	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.103G>A	14.37:g.103802403G>A	ENSP00000216554:p.Val35Ile					EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Missense_Mutation_p.V35I|EIF5_ENST00000392715.2_Missense_Mutation_p.V35I	p.V35I	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		4	779	+		Melanoma(154;0.155)	35					Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.103G>A	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	36	5.784152	0.96937	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.42900	0.96;0.96	5.89	5.89	0.94794	Translation initiation factor IF2/IF5, N-terminal (2);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.72353	2.195	0.80722	D	1	B	0.28667	0.219	P	0.47102	0.537	T	0.61978	-0.6951	10	0.87932	D	0	-1.9257	20.3009	0.98609	0.0:0.0:1.0:0.0	.	35	P55010	IF5_HUMAN	I	35	ENSP00000216554:V35I;ENSP00000376477:V35I	ENSP00000216554:V35I	V	+	1	0	EIF5	102872156	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.605000	0.98321	2.809000	0.96659	0.555000	0.69702	GTT		0.398	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		19	22	0	0	0	1	0	19	22				
CKAP5	9793	broad.mit.edu	37	11	46784249	46784249	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:46784249C>A	ENST00000529230.1	-	31	4001	c.3955G>T	c.(3955-3957)Gtc>Ttc	p.V1319F	CKAP5_ENST00000354558.3_Missense_Mutation_p.V1319F|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.V1319F|CKAP5_ENST00000312055.5_Missense_Mutation_p.V1319F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1319					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCTGGGTAGACAAGGCACATC	0.418																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3955-3957)Gtc>Ttc		cytoskeleton associated protein 5							183.0	151.0	162.0					11																	46784249		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46784249C>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3955G>T	11.37:g.46784249C>A	ENSP00000432768:p.Val1319Phe					CKAP5_ENST00000415402.1_Missense_Mutation_p.V1319F|CKAP5_ENST00000354558.3_Missense_Mutation_p.V1319F|CKAP5_ENST00000312055.5_Missense_Mutation_p.V1319F	p.V1319F			Q14008	CKAP5_HUMAN			31	4001	-			1319					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.3955G>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197224	0.79015	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.051840	0.85682	D	0.000000	T	0.56031	0.1958	M	0.76574	2.34	0.80722	D	1	P;P;P	0.45672	0.741;0.836;0.864	B;P;P	0.51487	0.344;0.541;0.671	T	0.59989	-0.7350	10	0.87932	D	0	-9.1987	13.502	0.61462	0.0:0.9195:0.0:0.0805	.	1319;1319;1319	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	F	1319;1319;1319;1319;42	ENSP00000432768:V1319F;ENSP00000395302:V1319F;ENSP00000310227:V1319F;ENSP00000346566:V1319F	ENSP00000310227:V1319F	V	-	1	0	CKAP5	46740825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.880000	0.63107	2.696000	0.92011	0.655000	0.94253	GTC		0.418	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		13	80	1	0	0.00185496	1	0.00194174	13	80				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Silent_p.S151S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				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)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		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.chr22:29091841G>A	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.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	60	0	0	0	1	0	7	60				
CELSR1	9620	broad.mit.edu	37	22	46774557	46774557	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:46774557C>A	ENST00000262738.3	-	23	7313	c.7314G>T	c.(7312-7314)cgG>cgT	p.R2438R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2438	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.		R -> Q (in NTD; shows reduced protein localization to the cell membrane; dbSNP:rs199688538). {ECO:0000269|PubMed:22095531}.		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGACATGTGTCCGGTTCCTGG	0.657																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(7312-7314)cgG>cgT		cadherin, EGF LAG seven-pass G-type receptor 1							39.0	36.0	37.0					22																	46774557		2195	4292	6487	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46774557C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7314G>T	22.37:g.46774557C>A							p.R2438R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	23	7313	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2438			GPS.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.7314G>T	CCDS14076.1																																																																																				0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		6	12	1	0	8.12818e-05	1	8.66039e-05	6	12				
COPE	11316	broad.mit.edu	37	19	19014116	19014116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:19014116C>T	ENST00000262812.4	-	7	744	c.696G>A	c.(694-696)tgG>tgA	p.W232*	COPE_ENST00000349893.4_Intron|COPE_ENST00000600932.1_Nonsense_Mutation_p.W255*|COPE_ENST00000351079.4_Nonsense_Mutation_p.W181*|COPE_ENST00000598969.1_5'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	232					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CAGCGGCCTCCCAGCGGCCCT	0.672																																						ENST00000600932.1																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						c.(763-765)tgG>tgA		coatomer protein complex, subunit epsilon							28.0	28.0	28.0					19																	19014116		2202	4298	6500	SO:0001587	stop_gained	11316				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity	g.chr19:19014116C>T	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.696G>A	19.37:g.19014116C>T	ENSP00000262812:p.Trp232*					COPE_ENST00000262812.4_Nonsense_Mutation_p.W232*|COPE_ENST00000351079.4_Nonsense_Mutation_p.W181*|COPE_ENST00000349893.4_Intron|COPE_ENST00000598969.1_5'UTR	p.W255*			O14579	COPE_HUMAN			8	796	-			232					A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Nonsense_Mutation	SNP	ENST00000262812.4	37	c.765G>A	CCDS12387.1	.	.	.	.	.	.	.	.	.	.	C	36	5.830302	0.96996	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000538245	.	.	.	5.15	5.15	0.70609	.	0.115357	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-16.3848	17.1786	0.86848	0.0:1.0:0.0:0.0	.	.	.	.	X	232;181;231	.	ENSP00000262812:W232X	W	-	3	0	COPE	18875116	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.325000	0.79124	2.403000	0.81681	0.462000	0.41574	TGG		0.672	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263		13	32	0	0	0	1	0	13	32				
ZNF292	23036	broad.mit.edu	37	6	87968364	87968364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:87968364G>A	ENST00000369577.3	+	8	5060	c.5017G>A	c.(5017-5019)Gta>Ata	p.V1673I	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1668I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1673						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCATTCAAATGTAATTCCAAC	0.338																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5017-5019)Gta>Ata		zinc finger protein 292							37.0	37.0	37.0					6																	87968364		1856	4087	5943	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968364G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5017G>A	6.37:g.87968364G>A	ENSP00000358590:p.Val1673Ile					ZNF292_ENST00000339907.4_Missense_Mutation_p.V1668I	p.V1673I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5060	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1673					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5017G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	1.918	-0.449118	0.04572	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06849	3.25;3.26	5.17	-4.19	0.03835	.	0.900253	0.09459	N	0.799359	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48281	-0.9049	10	0.20046	T	0.44	.	3.902	0.09166	0.5082:0.0854:0.2822:0.1242	.	1673	O60281	ZN292_HUMAN	I	1673;1668	ENSP00000358590:V1673I;ENSP00000342847:V1668I	ENSP00000342847:V1668I	V	+	1	0	ZNF292	88025083	0.002000	0.14202	0.000000	0.03702	0.615000	0.37417	-0.224000	0.09164	-0.652000	0.05408	-0.262000	0.10625	GTA		0.338	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	25	0	0	0	1	0	3	25				
AOC1	26	broad.mit.edu	37	7	150554015	150554015	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:150554015C>A	ENST00000493429.1	+	4	1041	c.457C>A	c.(457-459)Cac>Aac	p.H153N	AOC1_ENST00000416793.2_Missense_Mutation_p.H153N|AOC1_ENST00000360937.4_Missense_Mutation_p.H153N|AOC1_ENST00000467291.1_Missense_Mutation_p.H153N			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	153					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CCTCCTCTACCACACCCTGCA	0.602																																						ENST00000493429.1																			0											c.(457-459)Cac>Aac		amine oxidase, copper containing 1							69.0	72.0	71.0					7																	150554015		2048	4192	6240	SO:0001583	missense	26							g.chr7:150554015C>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.457C>A	7.37:g.150554015C>A	ENSP00000418614:p.His153Asn					AOC1_ENST00000360937.4_Missense_Mutation_p.H153N|AOC1_ENST00000467291.1_Missense_Mutation_p.H153N|AOC1_ENST00000416793.2_Missense_Mutation_p.H153N	p.H153N							4	1041	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.457C>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	1.091	-0.664003	0.03428	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	5.28	0.876	0.19138	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	1.311970	0.04518	N	0.384134	T	0.21387	0.0515	M	0.71581	2.175	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.37619	-0.9698	10	0.21540	T	0.41	-9.0385	8.4839	0.33061	0.2801:0.4469:0.273:0.0	.	153;153	C9J690;P19801	.;ABP1_HUMAN	N	153;153;153;153;153;29;153	ENSP00000418614:H153N;ENSP00000418328:H153N;ENSP00000418557:H153N;ENSP00000354193:H153N;ENSP00000411613:H153N;ENSP00000417392:H153N	ENSP00000354193:H153N	H	+	1	0	ABP1	150184948	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	-1.661000	0.01972	0.161000	0.19458	0.655000	0.94253	CAC		0.602	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		26	90	1	0	9.90768e-06	1	1.07483e-05	26	90				
DMD	1756	broad.mit.edu	37	X	32834617	32834617	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:32834617G>A	ENST00000357033.4	-	6	704	c.498C>T	c.(496-498)ggC>ggT	p.G166G	DMD_ENST00000288447.4_Silent_p.G158G|DMD_ENST00000378677.2_Silent_p.G162G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	166	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAAGCCAGGCCATCAGACC	0.388																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(496-498)ggC>ggT		dystrophin							139.0	118.0	125.0					X																	32834617		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32834617G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.498C>T	X.37:g.32834617G>A						DMD_ENST00000288447.4_Silent_p.G158G|DMD_ENST00000378677.2_Silent_p.G162G	p.G166G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			6	704	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	166			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.498C>T	CCDS14233.1																																																																																				0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		19	19	0	0	0	1	0	19	19				
CRB1	23418	broad.mit.edu	37	1	197390522	197390522	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:197390522C>A	ENST00000367400.3	+	6	1699	c.1564C>A	c.(1564-1566)Ctt>Att	p.L522I	CRB1_ENST00000535699.1_Missense_Mutation_p.L453I|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.L221I|CRB1_ENST00000544212.1_Missense_Mutation_p.L3I|CRB1_ENST00000538660.1_Missense_Mutation_p.L522I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.L410I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	522	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCCAATGGCTCTTCTACTTTT	0.473																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1564-1566)Ctt>Att		crumbs homolog 1 (Drosophila)							115.0	111.0	113.0					1																	197390522		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390522C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1564C>A	1.37:g.197390522C>A	ENSP00000356370:p.Leu522Ile					CRB1_ENST00000367399.2_Missense_Mutation_p.L410I|CRB1_ENST00000544212.1_Missense_Mutation_p.L3I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.L522I|CRB1_ENST00000543483.1_Missense_Mutation_p.L221I|CRB1_ENST00000535699.1_Missense_Mutation_p.L453I|CRB1_ENST00000476483.1_3'UTR	p.L522I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1699	+			522			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1564C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048880	0.19827	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000544212;ENST00000367401	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.82	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86619	0.5976	M	0.79123	2.44	0.09310	N	1	D;D;D;P;D	0.76494	0.997;0.978;0.999;0.775;0.999	D;P;D;B;D	0.87578	0.968;0.689;0.994;0.306;0.998	T	0.75657	-0.3242	9	0.22706	T	0.39	.	5.2656	0.15597	0.0:0.6314:0.166:0.2025	.	522;453;410;171;522	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	I	453;522;522;410;221;3;171	ENSP00000438786:L453I;ENSP00000438091:L522I;ENSP00000356370:L522I;ENSP00000356369:L410I;ENSP00000439579:L221I;ENSP00000444556:L3I	ENSP00000356369:L410I	L	+	1	0	CRB1	195657145	0.013000	0.17824	0.012000	0.15200	0.053000	0.15095	0.197000	0.17197	1.464000	0.47987	0.650000	0.86243	CTT		0.473	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		16	59	1	0	6.31663e-08	1	7.06673e-08	16	59				
HNRNPF	3185	broad.mit.edu	37	10	43882522	43882522	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:43882522T>A	ENST00000544000.1	-	4	1218	c.811A>T	c.(811-813)Atg>Ttg	p.M271L	HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Missense_Mutation_p.M271L|HNRNPF_ENST00000357065.4_Missense_Mutation_p.M271L|HNRNPF_ENST00000443950.2_Missense_Mutation_p.M271L|HNRNPF_ENST00000337970.3_Missense_Mutation_p.M271L	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	271					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGGTCATACATTCCGGAGAGA	0.587																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(811-813)Atg>Ttg		heterogeneous nuclear ribonucleoprotein F							58.0	53.0	55.0					10																	43882522		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882522T>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.811A>T	10.37:g.43882522T>A	ENSP00000438061:p.Met271Leu					HNRNPF_ENST00000357065.4_Missense_Mutation_p.M271L|HNRNPF_ENST00000356053.3_Missense_Mutation_p.M271L|HNRNPF_ENST00000337970.3_Missense_Mutation_p.M271L|HNRNPF_ENST00000544000.1_Missense_Mutation_p.M271L	p.M271L	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1297	-			271					B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.811A>T	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	T	7.427	0.638012	0.14386	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	4.38	4.38	0.52667	Zinc finger, CHHC-type (1);	0.175611	0.53938	D	0.000049	T	0.06962	0.0177	L	0.27053	0.805	0.37396	D	0.912655	B	0.12013	0.005	B	0.19666	0.026	T	0.29610	-1.0006	10	0.18710	T	0.47	-32.4341	6.7363	0.23411	0.0:0.1021:0.0:0.8979	.	271	P52597	HNRPF_HUMAN	L	271;271;271;271;271;194	ENSP00000438061:M271L;ENSP00000400433:M271L;ENSP00000348345:M271L;ENSP00000349573:M271L;ENSP00000338477:M271L	ENSP00000338477:M271L	M	-	1	0	HNRNPF	43202528	0.996000	0.38824	0.940000	0.37924	0.807000	0.45602	2.121000	0.41977	2.200000	0.70718	0.533000	0.62120	ATG		0.587	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			7	16	0	0	0	1	0	7	16				
LY6G6D	58530	broad.mit.edu	37	6	31683300	31683300	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:31683300A>G	ENST00000375825.3	+	2	77	c.77A>G	c.(76-78)aAc>aGc	p.N26S	LY6G6E_ENST00000409239.1_5'Flank|MEGT1_ENST00000503322.1_Missense_Mutation_p.N275S|XXbac-BPG32J3.20_ENST00000461287.1_5'Flank|LY6G6F_ENST00000556581.1_Missense_Mutation_p.N275S|LY6G6E_ENST00000383418.4_5'Flank	NM_021246.2	NP_067069.2	O95868	LY66D_HUMAN	lymphocyte antigen 6 complex, locus G6D	26	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|plasma membrane (GO:0005886)				central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CGGTGCTACAACTGTGGTGGA	0.617																																						ENST00000503322.1																			0											c.(823-825)aAc>aGc									78.0	76.0	77.0					6																	31683300		1511	2709	4220	SO:0001583	missense	58530							g.chr6:31683300A>G		CCDS34404.1	6p21.3	2008-08-29	2002-07-29	2002-08-01	ENSG00000244355	ENSG00000244355			13935	protein-coding gene	gene with protein product		606038	"""chromosome 6 open reading frame 23"""	C6orf23		12079290	Standard	NM_021246		Approved	MEGT1, Ly6-D, G6D, LY6-D, NG25		O95868	OTTHUMG00000137370	ENST00000375825.3:c.77A>G	6.37:g.31683300A>G	ENSP00000364985:p.Asn26Ser					LY6G6F_ENST00000556581.1_Missense_Mutation_p.N275S|LY6G6D_ENST00000375825.3_Missense_Mutation_p.N26S	p.N275S							5	827	+								A2BEY8|B0UXC1|B0V019|B0V1Y6|Q4VX50	Missense_Mutation	SNP	ENST00000375825.3	37	c.824A>G	CCDS34404.1	.	.	.	.	.	.	.	.	.	.	A	7.179	0.589294	0.13812	.	.	ENSG00000204424;ENSG00000250641;ENSG00000244355;ENSG00000244355	ENST00000556581;ENST00000503322;ENST00000375825;ENST00000375824	T;T;T;T	0.67171	2.49;2.49;-0.25;1.35	5.1	3.94	0.45596	.	0.917788	0.08814	U	0.889774	T	0.25827	0.0629	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.004	T	0.32375	-0.9909	10	0.56958	D	0.05	-1.2619	7.5911	0.28021	0.9022:0.0:0.0978:0.0	.	26;275	O95868;Q9NZJ1	LY66D_HUMAN;.	S	275;275;26;26	ENSP00000452432:N275S;ENSP00000421232:N275S;ENSP00000364985:N26S;ENSP00000364984:N26S	ENSP00000364984:N26S	N	+	2	0	LY6G6D;XXbac-BPG32J3.19;LY6G6F	31791279	0.923000	0.31300	0.106000	0.21319	0.159000	0.22180	2.643000	0.46604	0.789000	0.33779	-0.376000	0.06991	AAC		0.617	LY6G6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144875.2			57	53	0	0	0	1	0	57	53				
DMTN	2039	broad.mit.edu	37	8	21938938	21938938	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:21938938G>T	ENST00000523266.1	+	16	1644	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	DMTN_ENST00000517600.1_Missense_Mutation_p.K354N|DMTN_ENST00000443491.2_Missense_Mutation_p.K347N|DMTN_ENST00000519907.1_Missense_Mutation_p.K372N|DMTN_ENST00000381470.3_Missense_Mutation_p.K372N|DMTN_ENST00000358242.3_Missense_Mutation_p.K394N|DMTN_ENST00000432128.1_Missense_Mutation_p.K394N|DMTN_ENST00000415253.1_Missense_Mutation_p.K372N|DMTN_ENST00000523782.2_Missense_Mutation_p.K347N|DMTN_ENST00000265800.5_Missense_Mutation_p.K394N	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	394	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CTCTGTGGAAGCGGAATGAGC	0.602																																						ENST00000358242.3																			0											c.(1180-1182)aaG>aaT		dematin actin binding protein							115.0	113.0	114.0					8																	21938938		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21938938G>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.1182G>T	8.37:g.21938938G>T	ENSP00000427866:p.Lys394Asn					DMTN_ENST00000443491.2_Missense_Mutation_p.K347N|DMTN_ENST00000265800.5_Missense_Mutation_p.K394N|DMTN_ENST00000432128.1_Missense_Mutation_p.K394N|DMTN_ENST00000523782.2_Missense_Mutation_p.K347N|DMTN_ENST00000415253.1_Missense_Mutation_p.K372N|DMTN_ENST00000517600.1_Missense_Mutation_p.K354N|DMTN_ENST00000519907.1_Missense_Mutation_p.K372N|DMTN_ENST00000381470.3_Missense_Mutation_p.K372N|DMTN_ENST00000523266.1_Missense_Mutation_p.K394N	p.K394N							16	1675	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.1182G>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895218	0.72639	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T	0.64803	0.63;0.47;0.66;-0.12;0.47;0.47;0.63;0.47;0.63	5.17	4.09	0.47781	Villin headpiece (5);	1824.970000	0.00166	N	0.000000	D	0.86556	0.5961	H	0.96547	3.84	0.53005	D	0.999962	D;D;D;D;D;D	0.76494	0.997;0.998;0.998;0.999;0.999;0.995	D;D;D;D;D;P	0.72075	0.932;0.966;0.966;0.969;0.976;0.882	T	0.75639	-0.3248	10	0.87932	D	0	.	9.5051	0.39042	0.1137:0.0:0.8863:0.0	.	333;354;394;347;347;372	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	N	372;394;347;354;354;394;333;394;372;394;372	ENSP00000370879:K372N;ENSP00000416111:K394N;ENSP00000397904:K347N;ENSP00000430618:K354N;ENSP00000265800:K394N;ENSP00000350977:K394N;ENSP00000401291:K372N;ENSP00000427866:K394N;ENSP00000429377:K372N	ENSP00000265800:K394N	K	+	3	2	EPB49	21994884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.857000	0.39399	2.435000	0.82474	0.455000	0.32223	AAG		0.602	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		30	53	1	0	4.11147e-13	1	4.81016e-13	30	53				
C6orf1	221491	broad.mit.edu	37	6	34214862	34214862	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:34214862C>T	ENST00000476320.1	-	4	766	c.84G>A	c.(82-84)atG>atA	p.M28I	C6orf1_ENST00000394990.4_Missense_Mutation_p.M28I|C6orf1_ENST00000481533.1_Missense_Mutation_p.M28I|C6orf1_ENST00000335352.3_Missense_Mutation_p.M8I|C6orf1_ENST00000413013.2_Missense_Mutation_p.M8I|C6orf1_ENST00000468145.1_Missense_Mutation_p.M28I	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	28						extracellular region (GO:0005576)				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		TGCTCAGCCTCATGCAGTTCC	0.637											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000476320.1																			0				endometrium(1)|prostate(1)	2						c.(82-84)atG>atA		chromosome 6 open reading frame 1							108.0	111.0	110.0					6																	34214862		2203	4300	6503	SO:0001583	missense	221491					extracellular region		g.chr6:34214862C>T	AY062936	CCDS4790.1, CCDS75433.1	6p21.3	2011-12-12			ENSG00000186577	ENSG00000186577			1340	protein-coding gene	gene with protein product		611419				10036196	Standard	NM_178508		Approved	LBH, MGC57858	uc003ojh.3	Q86T20	OTTHUMG00000159754	ENST00000476320.1:c.84G>A	6.37:g.34214862C>T	ENSP00000417604:p.Met28Ile		OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	846	C6orf1_ENST00000335352.3_Missense_Mutation_p.M8I|C6orf1_ENST00000468145.1_Missense_Mutation_p.M28I|C6orf1_ENST00000481533.1_Missense_Mutation_p.M28I|C6orf1_ENST00000413013.2_Missense_Mutation_p.M8I|C6orf1_ENST00000394990.4_Missense_Mutation_p.M28I	p.M28I	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)	4	766	-		Ovarian(999;0.0228)	28					A8K299	Missense_Mutation	SNP	ENST00000476320.1	37	c.84G>A	CCDS4790.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315307	0.40996	.	.	ENSG00000186577	ENST00000476320;ENST00000335352;ENST00000394990;ENST00000481533;ENST00000413013;ENST00000468145	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.54	4.67	0.58626	.	0.725764	0.11392	N	0.568719	T	0.07503	0.0189	N	0.14661	0.345	0.29502	N	0.85482	P	0.38020	0.615	B	0.31547	0.132	T	0.13388	-1.0511	10	0.44086	T	0.13	-1.1915	11.3653	0.49668	0.0:0.9149:0.0:0.0851	.	28	Q86T20	CF001_HUMAN	I	28;8;28;28;8;28	ENSP00000417604:M28I;ENSP00000334260:M8I;ENSP00000378441:M28I;ENSP00000418062:M28I;ENSP00000387460:M8I;ENSP00000418884:M28I	ENSP00000334260:M8I	M	-	3	0	C6orf1	34322840	0.999000	0.42202	0.418000	0.26571	0.860000	0.49131	5.364000	0.66110	1.351000	0.45789	0.555000	0.69702	ATG		0.637	C6orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357175.1	NM_178508		94	111	0	0	0	1	0	94	111				
IFI44	10561	broad.mit.edu	37	1	79126276	79126276	+	Silent	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:79126276C>T	ENST00000370747.4	+	7	1135	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Silent_p.S67S	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	350					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						ATGTGGATAGCATGGATTTGA	0.373																																						ENST00000370747.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1048-1050)agC>agT		interferon-induced protein 44							150.0	145.0	147.0					1																	79126276		2203	4300	6503	SO:0001819	synonymous_variant	10561				response to virus	cytoplasm		g.chr1:79126276C>T	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1050C>T	1.37:g.79126276C>T						IFI44_ENST00000545124.1_Silent_p.S67S|IFI44_ENST00000495254.1_Intron	p.S350S	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN			7	1135	+			350					B7ZAG3|D3DQ80|Q14496	Silent	SNP	ENST00000370747.4	37	c.1050C>T	CCDS688.1																																																																																				0.373	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		22	26	0	0	0	1	0	22	26				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				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)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	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.chr22:29091840T>C	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.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	60	0	0	0	1	0	7	60				
MCHR1	2847	broad.mit.edu	37	22	41077549	41077549	+	Missense_Mutation	SNP	G	G	A	rs149149384	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:41077549G>A	ENST00000249016.4	+	2	1582	c.886G>A	c.(886-888)Gca>Aca	p.A296T	MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	296					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CATCACAGCCGCATACGTGAG	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21878	0.0		0.0	False		,,,				2504	0.0					ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(886-888)Gca>Aca		melanin-concentrating hormone receptor 1		G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	119.0	82.0	94.0		886	5.2	0.2	22	dbSNP_134	94	0,8600		0,0,4300	yes	missense	MCHR1	NM_005297.3	58	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	296/423	41077549	4,13002	2203	4300	6503	SO:0001583	missense	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077549G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.886G>A	22.37:g.41077549G>A	ENSP00000249016:p.Ala296Thr					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T	p.A296T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1582	+			296					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.886G>A	CCDS14004.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.88	3.244003	0.58995	9.08E-4	0.0	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.36699	1.24;1.24	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.050191	0.85682	D	0.000000	T	0.44664	0.1304	N	0.22421	0.69	0.43761	D	0.996275	D	0.71674	0.998	P	0.62184	0.899	T	0.45160	-0.9280	10	0.72032	D	0.01	.	16.6948	0.85332	0.0:0.0:1.0:0.0	.	296	Q99705	MCHR1_HUMAN	T	296;170	ENSP00000249016:A296T;ENSP00000370841:A170T	ENSP00000249016:A296T	A	+	1	0	MCHR1	39407495	1.000000	0.71417	0.205000	0.23548	0.373000	0.29922	6.723000	0.74742	2.607000	0.88179	0.655000	0.94253	GCA		0.622	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		76	32	0	0	0	1	0	76	32				
TENM1	10178	broad.mit.edu	37	X	123780597	123780597	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:123780597T>G	ENST00000371130.3	-	9	1706	c.1643A>C	c.(1642-1644)cAt>cCt	p.H548P	TENM1_ENST00000422452.2_Missense_Mutation_p.H548P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	548	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										TGGGAAACAATGACAATGGCC	0.368																																						ENST00000422452.2																			0											c.(1642-1644)cAt>cCt		teneurin transmembrane protein 1							128.0	98.0	108.0					X																	123780597		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123780597T>G	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.1643A>C	X.37:g.123780597T>G	ENSP00000360171:p.His548Pro					TENM1_ENST00000371130.3_Missense_Mutation_p.H548P	p.H548P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					9	1706	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1643A>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030526	0.75504	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03496	3.91;3.91	5.65	5.65	0.86999	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	H	0.97265	3.97	0.80722	D	1	D;D;P	0.67145	0.996;0.967;0.928	P;B;P	0.53649	0.731;0.439;0.474	T	0.45991	-0.9223	10	0.72032	D	0.01	.	14.8302	0.70142	0.0:0.0:0.0:1.0	.	547;548;548	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	P	548	ENSP00000360171:H548P;ENSP00000403954:H548P	ENSP00000360171:H548P	H	-	2	0	ODZ1	123608278	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.040000	0.89188	1.884000	0.54569	0.481000	0.45027	CAT		0.368	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		24	2	0	0	0	1	0	24	2				
PPAPDC1A	196051	broad.mit.edu	37	10	122348922	122348922	+	Nonsense_Mutation	SNP	C	C	T	rs375764875		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:122348922C>T	ENST00000398250.1	+	7	1076	c.724C>T	c.(724-726)Cga>Tga	p.R242*	PPAPDC1A_ENST00000439221.1_Nonsense_Mutation_p.R179*|PPAPDC1A_ENST00000398248.1_Silent_p.C91C|PPAPDC1A_ENST00000369073.3_Nonsense_Mutation_p.R232*	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	242					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CGTTAGTCTGCGAGTCCCAGC	0.557																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(724-726)Cga>Tga		phosphatidic acid phosphatase type 2 domain containing 1A		C	stop/ARG	1,4153		0,1,2076	99.0	108.0	105.0		724	5.4	1.0	10		105	0,8414		0,0,4207	no	stop-gained	PPAPDC1A	NM_001030059.1		0,1,6283	TT,TC,CC		0.0,0.0241,0.0080		242/272	122348922	1,12567	2077	4207	6284	SO:0001587	stop_gained	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122348922C>T	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.724C>T	10.37:g.122348922C>T	ENSP00000381302:p.Arg242*					PPAPDC1A_ENST00000369073.3_Nonsense_Mutation_p.R232*|PPAPDC1A_ENST00000439221.1_Nonsense_Mutation_p.R179*|PPAPDC1A_ENST00000398248.1_Silent_p.C91C	p.R242*	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	7	1076	+		Lung NSC(174;0.1)|all_lung(145;0.132)	242					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Nonsense_Mutation	SNP	ENST00000398250.1	37	c.724C>T	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370388	0.82573	2.41E-4	0.0	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000369073	.	.	.	5.36	5.36	0.76844	.	0.468869	0.23718	N	0.045251	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-10.1276	19.0868	0.93206	0.0:1.0:0.0:0.0	.	.	.	.	X	179;242;242;232	.	ENSP00000358069:R232X	R	+	1	2	PPAPDC1A	122338912	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	4.711000	0.61881	2.511000	0.84671	0.655000	0.94253	CGA		0.557	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		17	66	0	0	0	1	0	17	66				
BEND2	139105	broad.mit.edu	37	X	18221819	18221819	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:18221819T>C	ENST00000380033.4	-	5	841	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	BEND2_ENST00000380030.3_Missense_Mutation_p.I237V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	237										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCTCCACTGATAAAGTTCCAT	0.448																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(709-711)Atc>Gtc		BEN domain containing 2							166.0	133.0	144.0					X																	18221819		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18221819T>C	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.709A>G	X.37:g.18221819T>C	ENSP00000369372:p.Ile237Val					BEND2_ENST00000380030.3_Missense_Mutation_p.I237V	p.I237V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			5	841	-			237					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.709A>G	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	T	7.855	0.724863	0.15439	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.24723	1.87;1.84	3.34	-6.67	0.01783	.	4.643580	0.01395	N	0.013386	T	0.11537	0.0281	N	0.19112	0.55	0.09310	N	1	B;B	0.24721	0.11;0.01	B;B	0.23716	0.048;0.002	T	0.30001	-0.9993	10	0.02654	T	1	0.141	4.2851	0.10851	0.4094:0.1591:0.0:0.4315	.	237;237	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	V	237	ENSP00000369372:I237V;ENSP00000369369:I237V	ENSP00000369369:I237V	I	-	1	0	BEND2	18131740	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-1.214000	0.02988	-2.013000	0.00949	0.242000	0.17961	ATC		0.448	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		58	5	0	0	0	1	0	58	5				
CENPJ	55835	broad.mit.edu	37	13	25458472	25458472	+	Missense_Mutation	SNP	C	C	G	rs372936942		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr13:25458472C>G	ENST00000381884.4	-	14	3792	c.3607G>C	c.(3607-3609)Gac>Cac	p.D1203H	CENPJ_ENST00000493190.1_5'Flank|CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1203					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ACTCTTTGGTCTGGCATGACC	0.438																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3607-3609)Gac>Cac		centromere protein J							129.0	112.0	118.0					13																	25458472		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25458472C>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3607G>C	13.37:g.25458472C>G	ENSP00000371308:p.Asp1203His					CENPJ_ENST00000545981.1_3'UTR	p.D1203H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	14	3792	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1203					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3607G>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477771	0.84640	.	.	ENSG00000151849	ENST00000381884	T	0.79940	-1.32	5.93	5.93	0.95920	.	0.042705	0.85682	D	0.000000	D	0.91747	0.7390	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92460	0.5977	10	0.87932	D	0	.	19.1152	0.93336	0.0:1.0:0.0:0.0	.	1203	Q9HC77	CENPJ_HUMAN	H	1203	ENSP00000371308:D1203H	ENSP00000371308:D1203H	D	-	1	0	CENPJ	24356472	1.000000	0.71417	0.976000	0.42696	0.841000	0.47740	7.113000	0.77095	2.815000	0.96918	0.561000	0.74099	GAC		0.438	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		7	26	0	0	0	1	0	7	26				
SFN	2810	broad.mit.edu	37	1	27190149	27190149	+	Missense_Mutation	SNP	C	C	T	rs78707984		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:27190149C>T	ENST00000339276.4	+	1	517	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		TCAGCCCGGTCAGCCTACCAG	0.602																																						ENST00000339276.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9						c.(445-447)tCa>tTa		stratifin		C	LEU/SER	0,4406		0,0,2203	85.0	83.0	84.0		446	5.1	0.7	1	dbSNP_131	84	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SFN	NM_006142.3	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	149/249	27190149	2,13004	2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190149C>T	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.446C>T	1.37:g.27190149C>T	ENSP00000340989:p.Ser149Leu						p.S149L	NM_006142.3	NP_006133.1	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	517	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	149					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.446C>T	CCDS288.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858571	0.32791	0.0	2.33E-4	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.43688	0.94	6.06	5.1	0.69264	14-3-3 domain (4);	0.906876	0.09400	N	0.807339	T	0.20780	0.0500	N	0.02368	-0.58	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.05402	-1.0887	10	0.25751	T	0.34	-0.5242	11.3178	0.49403	0.1716:0.7101:0.1183:0.0	.	149	P31947	1433S_HUMAN	L	149;117	ENSP00000340989:S149L	ENSP00000340989:S149L	S	+	2	0	SFN	27062736	0.144000	0.22641	0.733000	0.30861	0.993000	0.82548	2.150000	0.42254	2.871000	0.98454	0.655000	0.94253	TCA		0.602	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		22	54	0	0	0	1	0	22	54				
ABCA7	10347	broad.mit.edu	37	19	1049416	1049416	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:1049416G>T	ENST00000263094.6	+	18	2763	c.2532G>T	c.(2530-2532)ggG>ggT	p.G844G	ABCA7_ENST00000435683.2_Silent_p.G706G|ABCA7_ENST00000433129.1_Silent_p.G844G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	844	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCCACAACGGGGCCGGCAAGA	0.711																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(2530-2532)ggG>ggT		ATP-binding cassette, sub-family A (ABC1), member 7							26.0	31.0	30.0					19																	1049416		2195	4282	6477	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1049416G>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2532G>T	19.37:g.1049416G>T						ABCA7_ENST00000435683.2_Silent_p.G706G|ABCA7_ENST00000433129.1_Silent_p.G844G	p.G844G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_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)	18	2763	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	844			ABC transporter 1.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.2532G>T	CCDS12055.1																																																																																				0.711	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		20	44	1	0	3.8784e-16	1	4.56733e-16	20	44				
NLRP7	199713	broad.mit.edu	37	19	55452898	55452898	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:55452898G>C	ENST00000590030.1	-	1	222	c.182C>G	c.(181-183)aCc>aGc	p.T61S	NLRP7_ENST00000592784.1_Missense_Mutation_p.T61S|NLRP7_ENST00000588756.1_Missense_Mutation_p.T61S|NLRP7_ENST00000448121.2_Missense_Mutation_p.T61S|NLRP7_ENST00000340844.2_Missense_Mutation_p.T61S|NLRP7_ENST00000328092.5_Missense_Mutation_p.T61S|NLRP7_ENST00000446217.1_Missense_Mutation_p.T89S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	61	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTGAGGAGGTGTTGACCAG	0.468																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(181-183)aCc>aGc		NLR family, pyrin domain containing 7							132.0	127.0	129.0					19																	55452898		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55452898G>C	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.182C>G	19.37:g.55452898G>C	ENSP00000465520:p.Thr61Ser					NLRP7_ENST00000328092.5_Missense_Mutation_p.T61S|NLRP7_ENST00000448121.2_Missense_Mutation_p.T61S|NLRP7_ENST00000340844.2_Missense_Mutation_p.T61S|NLRP7_ENST00000592784.1_Missense_Mutation_p.T61S|NLRP7_ENST00000590030.1_Missense_Mutation_p.T61S|NLRP7_ENST00000446217.1_Missense_Mutation_p.T89S	p.T61S			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	668	-			61			DAPIN.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.182C>G	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	4.253	0.045876	0.08196	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	1.39	-2.65	0.06095	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.31575	0.0801	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.37955	0.612;0.612;0.612;0.558	B;B;B;B	0.38264	0.269;0.269;0.269;0.176	T	0.18967	-1.0320	9	0.56958	D	0.05	.	3.3237	0.07059	0.0:0.4064:0.2728:0.3208	.	89;61;61;61	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	S	61;61;61;89;61	ENSP00000329568:T61S;ENSP00000409137:T61S;ENSP00000339491:T61S;ENSP00000414273:T89S	ENSP00000329568:T61S	T	-	2	0	NLRP7	60144710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.562000	0.00920	-0.961000	0.03609	-0.521000	0.04368	ACC		0.468	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		32	56	0	0	0	1	0	32	56				
C9	735	broad.mit.edu	37	5	39364512	39364512	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:39364512G>T	ENST00000263408.4	-	1	150	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	19					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGTGCTGTGAGGATGCTTATT	0.507																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(55-57)Ctc>Atc		complement component 9							111.0	98.0	103.0					5																	39364512		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39364512G>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.55C>A	5.37:g.39364512G>T	ENSP00000263408:p.Leu19Ile					C9_ENST00000509186.1_Intron	p.L19I	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		1	150	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	19						Missense_Mutation	SNP	ENST00000263408.4	37	c.55C>A	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338334	0.24253	.	.	ENSG00000113600	ENST00000263408	T	0.31247	1.5	4.45	3.58	0.41010	.	1.162440	0.06270	N	0.695445	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.20907	-1.0261	10	0.17369	T	0.5	-2.191	10.7539	0.46225	0.0:0.1915:0.8084:0.0	.	19	P02748	CO9_HUMAN	I	19	ENSP00000263408:L19I	ENSP00000263408:L19I	L	-	1	0	C9	39400269	0.015000	0.18098	0.005000	0.12908	0.001000	0.01503	0.948000	0.29096	1.475000	0.48197	-0.264000	0.10439	CTC		0.507	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			4	14	1	0	0.184627	1	0.185665	4	14				
COL9A3	1299	broad.mit.edu	37	20	61458626	61458626	+	Missense_Mutation	SNP	C	C	T	rs371562453		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:61458626C>T	ENST00000343916.3	+	16	829	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	276	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGAAGGGTTCCGCGGCCCCAA	0.612																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(826-828)Cgc>Tgc		collagen, type IX, alpha 3		C	CYS/ARG	0,4400		0,0,2200	56.0	59.0	58.0		826	3.0	1.0	20		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL9A3	NM_001853.3	180	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	276/685	61458626	1,12999	2200	4300	6500	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61458626C>T	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.826C>T	20.37:g.61458626C>T	ENSP00000341640:p.Arg276Cys						p.R276C	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			16	829	+	Breast(26;5.68e-08)		276			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.826C>T	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635270	0.29068	0.0	1.16E-4	ENSG00000092758	ENST00000343916	D	0.94330	-3.4	3.93	2.96	0.34315	.	0.270559	0.35378	N	0.003242	D	0.89733	0.6800	L	0.61036	1.89	0.47659	D	0.999488	B	0.18610	0.029	B	0.08055	0.003	D	0.87198	0.2239	10	0.56958	D	0.05	.	6.809	0.23794	0.0:0.8693:0.0:0.1307	.	276	Q14050	CO9A3_HUMAN	C	276	ENSP00000341640:R276C	ENSP00000341640:R276C	R	+	1	0	COL9A3	60929071	0.014000	0.17966	0.979000	0.43373	0.371000	0.29859	0.889000	0.28282	1.905000	0.55150	0.462000	0.41574	CGC		0.612	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		31	28	0	0	0	1	0	31	28				
ZP1	22917	broad.mit.edu	37	11	60640752	60640752	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:60640752G>A	ENST00000278853.5	+	7	1230	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	410	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTGAGCTGCGGATTGCCAAAG	0.607																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1228-1230)cgG>cgA		zona pellucida glycoprotein 1 (sperm receptor)							102.0	101.0	101.0					11																	60640752		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60640752G>A	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1230G>A	11.37:g.60640752G>A							p.R410R	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			7	1230	+			410			ZP.			Silent	SNP	ENST00000278853.5	37	c.1230G>A	CCDS31572.1																																																																																				0.607	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		26	155	0	0	0	1	0	26	155				
MTSS1L	92154	broad.mit.edu	37	16	70698201	70698201	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:70698201C>A	ENST00000338779.6	-	15	1897	c.1623G>T	c.(1621-1623)ggG>ggT	p.G541G	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	541					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CGGTGGGCAGCCCAGCAGTGG	0.711																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1621-1623)ggG>ggT		metastasis suppressor 1-like							22.0	24.0	24.0					16																	70698201		2188	4278	6466	SO:0001819	synonymous_variant	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698201C>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1623G>T	16.37:g.70698201C>A						FLJ00418_ENST00000597002.1_5'UTR	p.G541G	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			15	1897	-			541					A6NJI7|Q9BUA8	Silent	SNP	ENST00000338779.6	37	c.1623G>T	CCDS32476.1																																																																																				0.711	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		7	37	1	0	0.00307968	1	0.00318649	7	37				
HEATR5A	25938	broad.mit.edu	37	14	31790778	31790778	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:31790778A>G	ENST00000389961.3	-	24	3877	c.3878T>C	c.(3877-3879)gTt>gCt	p.V1293A	HEATR5A_ENST00000439348.1_Missense_Mutation_p.V1293A|HEATR5A_ENST00000439727.1_Missense_Mutation_p.V1006A|HEATR5A_ENST00000543095.2_Missense_Mutation_p.V1299A			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1293										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCGCCGAATAACAACTAACAG	0.428																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(3895-3897)gTt>gCt		HEAT repeat containing 5A							38.0	39.0	39.0					14																	31790778		1908	4129	6037	SO:0001583	missense	25938						binding	g.chr14:31790778A>G	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3878T>C	14.37:g.31790778A>G	ENSP00000374611:p.Val1293Ala					HEATR5A_ENST00000389961.3_Missense_Mutation_p.V1293A|HEATR5A_ENST00000439348.1_Missense_Mutation_p.V1293A|HEATR5A_ENST00000439727.1_Missense_Mutation_p.V1006A	p.V1299A	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	25	4080	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1293					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3896T>C		.	.	.	.	.	.	.	.	.	.	A	19.72	3.879936	0.72294	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	T;T;T;T	0.67171	-0.25;0.93;-0.25;-0.25	5.34	5.34	0.76211	.	0.184575	0.47093	D	0.000259	T	0.76608	0.4011	M	0.77406	2.37	0.80722	D	1	P	0.52170	0.951	P	0.52217	0.693	T	0.80908	-0.1172	10	0.87932	D	0	.	15.3091	0.74016	1.0:0.0:0.0:0.0	.	1293	Q86XA9-2	.	A	1293;1293;1006;1299	ENSP00000374611:V1293A;ENSP00000405407:V1293A;ENSP00000408681:V1006A;ENSP00000437968:V1299A	ENSP00000374611:V1293A	V	-	2	0	HEATR5A	30860529	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.303000	0.96183	2.023000	0.59567	0.254000	0.18369	GTT		0.428	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		4	11	0	0	0	1	0	4	11				
OR52B6	340980	broad.mit.edu	37	11	5602834	5602834	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:5602834C>A	ENST00000345043.2	+	1	728	c.728C>A	c.(727-729)gCa>gAa	p.A243E	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCTCCAAGCAGTCTTCCGC	0.498																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(727-729)gCa>gAa		olfactory receptor, family 52, subfamily B, member 6							214.0	227.0	223.0					11																	5602834		2064	4202	6266	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602834C>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.728C>A	11.37:g.5602834C>A	ENSP00000341581:p.Ala243Glu					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.A243E	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	728	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	243					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.728C>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386449	0.42308	.	.	ENSG00000187747	ENST00000345043	T	0.00249	8.44	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.198861	0.24490	U	0.038068	T	0.00608	0.0020	M	0.93375	3.41	0.23991	N	0.99625	P	0.49185	0.92	P	0.51742	0.678	T	0.28650	-1.0037	10	0.72032	D	0.01	.	17.0121	0.86409	0.0:1.0:0.0:0.0	.	243	Q8NGF0	O52B6_HUMAN	E	243	ENSP00000341581:A243E	ENSP00000341581:A243E	A	+	2	0	OR52B6	5559410	0.002000	0.14202	0.926000	0.36857	0.047000	0.14425	1.739000	0.38217	2.597000	0.87782	0.650000	0.86243	GCA		0.498	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		87	12	1	0	7.69131e-47	1	1.01231e-46	87	12				
CCDC73	493860	broad.mit.edu	37	11	32635161	32635161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:32635161G>T	ENST00000335185.5	-	16	2746	c.2703C>A	c.(2701-2703)taC>taA	p.Y901*	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	901										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AAAAATTCATGTATACTGGAG	0.398																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(2701-2703)taC>taA		coiled-coil domain containing 73							125.0	119.0	120.0					11																	32635161		1802	4067	5869	SO:0001587	stop_gained	493860							g.chr11:32635161G>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2703C>A	11.37:g.32635161G>T	ENSP00000335325:p.Tyr901*						p.Y901*	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	2746	-	Breast(20;0.112)		901					Q6P5Q7|Q6ZMW0|Q86WE7	Nonsense_Mutation	SNP	ENST00000335185.5	37	c.2703C>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	39	7.380721	0.98248	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.49	3.52	0.40303	.	0.532609	0.19126	N	0.122047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6937	0.23187	0.2097:0.0:0.7903:0.0	.	.	.	.	X	901	.	ENSP00000335325:Y901X	Y	-	3	2	CCDC73	32591737	0.823000	0.29233	0.965000	0.40720	0.990000	0.78478	0.431000	0.21444	0.556000	0.29098	0.650000	0.86243	TAC		0.398	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		82	9	1	0	6.14238e-36	1	7.96729e-36	82	9				
FOXA1	3169	broad.mit.edu	37	14	38060648	38060648	+	Silent	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:38060648C>T	ENST00000250448.2	-	2	1402	c.1341G>A	c.(1339-1341)agG>agA	p.R447R	FOXA1_ENST00000540786.1_Silent_p.R414R|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	447					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGATGGGGCTCCTGGTGGTCA	0.612																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1339-1341)agG>agA		forkhead box A1							61.0	65.0	63.0					14																	38060648		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060648C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1341G>A	14.37:g.38060648C>T						FOXA1_ENST00000540786.1_Silent_p.R414R|FOXA1_ENST00000545425.2_5'UTR	p.R447R	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1402	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		447					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.1341G>A	CCDS9665.1																																																																																				0.612	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			33	30	0	0	0	1	0	33	30				
PSAT1	29968	broad.mit.edu	37	9	80919820	80919820	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:80919820A>G	ENST00000376588.3	+	4	429	c.361A>G	c.(361-363)Ata>Gta	p.I121V	PSAT1_ENST00000347159.2_Missense_Mutation_p.I121V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	121					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						GTTTGGGACTATAAATATCGT	0.502																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(361-363)Ata>Gta		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						83.0	79.0	80.0					9																	80919820		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80919820A>G	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.361A>G	9.37:g.80919820A>G	ENSP00000365773:p.Ile121Val					PSAT1_ENST00000347159.2_Missense_Mutation_p.I121V	p.I121V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			4	429	+			121					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.361A>G	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	A	5.848	0.340596	0.11069	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	D;D	0.85629	-2.01;-2.01	5.45	4.55	0.56014	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.063133	0.64402	N	0.000006	T	0.59335	0.2186	N	0.00985	-1.075	0.40684	D	0.982332	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61163	-0.7118	10	0.02654	T	1	-8.9262	13.4259	0.61026	0.0771:0.0:0.9229:0.0	.	121;121	Q9Y617-2;Q9Y617	.;SERC_HUMAN	V	121	ENSP00000317606:I121V;ENSP00000365773:I121V	ENSP00000317606:I121V	I	+	1	0	PSAT1	80109640	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	6.325000	0.72901	1.274000	0.44362	-0.242000	0.12053	ATA		0.502	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		56	5	0	0	0	1	0	56	5				
SORBS1	10580	broad.mit.edu	37	10	97098980	97098980	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:97098980C>A	ENST00000361941.3	-	27	2801	c.2775G>T	c.(2773-2775)gtG>gtT	p.V925V	SORBS1_ENST00000353505.5_Silent_p.V776V|SORBS1_ENST00000347291.4_Silent_p.V737V|SORBS1_ENST00000371247.2_Silent_p.V925V|SORBS1_ENST00000474353.2_5'Flank|SORBS1_ENST00000371239.1_Silent_p.V702V|SORBS1_ENST00000371241.1_Silent_p.V575V|SORBS1_ENST00000306402.6_Silent_p.V672V|SORBS1_ENST00000371227.4_Silent_p.V879V|SORBS1_ENST00000371246.2_Silent_p.V947V|SORBS1_ENST00000393949.1_Silent_p.V895V|SORBS1_ENST00000607232.1_Silent_p.V1185V|SORBS1_ENST00000371249.2_Silent_p.V707V|SORBS1_ENST00000354106.3_Silent_p.V895V|SORBS1_ENST00000277982.5_Silent_p.V947V|SORBS1_ENST00000371245.3_Silent_p.V776V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTCGCTTGATCACATCCACGT	0.557																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2773-2775)gtG>gtT		sorbin and SH3 domain containing 1							234.0	209.0	217.0					10																	97098980		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97098980C>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2775G>T	10.37:g.97098980C>A						SORBS1_ENST00000353505.5_Silent_p.V776V|SORBS1_ENST00000361941.3_Silent_p.V925V|SORBS1_ENST00000371227.4_Silent_p.V879V|SORBS1_ENST00000371239.1_Silent_p.V702V|SORBS1_ENST00000277982.5_Silent_p.V947V|SORBS1_ENST00000371245.3_Silent_p.V776V|SORBS1_ENST00000354106.3_Silent_p.V895V|SORBS1_ENST00000607232.1_Silent_p.V1185V|SORBS1_ENST00000347291.4_Silent_p.V737V|SORBS1_ENST00000371249.2_Silent_p.V707V|SORBS1_ENST00000371246.2_Silent_p.V947V|SORBS1_ENST00000306402.6_Silent_p.V672V|SORBS1_ENST00000393949.1_Silent_p.V895V|SORBS1_ENST00000371241.1_Silent_p.V575V	p.V925V			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	29	2964	-		Colorectal(252;0.0429)	925			SH3 2.			Silent	SNP	ENST00000361941.3	37	c.2775G>T	CCDS31255.1																																																																																				0.557	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			49	32	1	0	5.7616e-29	1	7.36662e-29	49	32				
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(364-366)gaT>gaG		deltex homolog 1 (Drosophila)							102.0	80.0	87.0					12																	113515335		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515335T>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.366T>G	12.37:g.113515335T>G	ENSP00000257600:p.Asp122Glu						p.D122E	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			2	869	+			122			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.366T>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881366	0.17467	.	.	ENSG00000135144	ENST00000257600	T	0.36157	1.27	3.13	2.21	0.28008	WWE domain (2);WWE domain, subgroup (1);	0.133606	0.47455	D	0.000233	T	0.34513	0.0900	L	0.45352	1.415	0.40375	D	0.979381	D	0.59767	0.986	P	0.55923	0.787	T	0.36407	-0.9749	10	0.08179	T	0.78	-11.4703	6.2807	0.21005	0.0:0.7501:0.0:0.2499	.	122	Q86Y01	DTX1_HUMAN	E	122	ENSP00000257600:D122E	ENSP00000257600:D122E	D	+	3	2	DTX1	111999718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.418000	0.52721	0.496000	0.27904	-0.483000	0.04790	GAT		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			5	62	0	0	0	1	0	5	62				
PEX5L	51555	broad.mit.edu	37	3	179576864	179576864	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:179576864T>A	ENST00000467460.1	-	8	1138	c.808A>T	c.(808-810)Aaa>Taa	p.K270*	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.K78*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.K162*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.K227*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.K235*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.K268*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.K211*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.K162*|PEX5L_ENST00000465751.1_Nonsense_Mutation_p.K246*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	270					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACTGCTGCTTTTGCCCTTTCA	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(808-810)Aaa>Taa		peroxisomal biogenesis factor 5-like							141.0	140.0	141.0					3																	179576864		2203	4300	6503	SO:0001587	stop_gained	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179576864T>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.808A>T	3.37:g.179576864T>A	ENSP00000419975:p.Lys270*					PEX5L_ENST00000465751.1_Nonsense_Mutation_p.K246*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.K162*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.K268*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.K227*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.K162*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.K78*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.K211*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.K235*	p.K270*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		8	1138	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		270					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Nonsense_Mutation	SNP	ENST00000467460.1	37	c.808A>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.715878	0.89112	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.8843	15.127	0.72489	0.0:0.0:0.0:1.0	.	.	.	.	X	270;268;235;268;162;78;227;158;211;162;246	.	ENSP00000263962:K268X	K	-	1	0	PEX5L	181059558	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.577000	0.74027	2.223000	0.72356	0.456000	0.33151	AAA		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		12	47	0	0	0	1	0	12	47				
LRRC8E	80131	broad.mit.edu	37	19	7964334	7964334	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:7964334C>A	ENST00000306708.6	+	3	1028	c.927C>A	c.(925-927)ttC>ttA	p.F309L	AC010336.1_ENST00000539278.1_3'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	309					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CCCACCTCTTCTCCAAGCTGG	0.557																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(925-927)ttC>ttA		leucine rich repeat containing 8 family, member E							98.0	82.0	87.0					19																	7964334		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7964334C>A		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.927C>A	19.37:g.7964334C>A	ENSP00000306524:p.Phe309Leu					AC010336.1_ENST00000539278.1_3'UTR	p.F309L	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	1028	+			309					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.927C>A	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590170	0.46214	.	.	ENSG00000171017	ENST00000306708	T	0.28454	1.61	5.13	2.91	0.33838	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	L	0.37507	1.11	0.48135	D	0.999596	D	0.89917	1.0	D	0.85130	0.997	T	0.15464	-1.0436	10	0.23302	T	0.38	.	5.1584	0.15048	0.0:0.6681:0.0:0.3318	.	309	Q6NSJ5	LRC8E_HUMAN	L	309	ENSP00000306524:F309L	ENSP00000306524:F309L	F	+	3	2	LRRC8E	7870334	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.209000	0.32357	1.370000	0.46153	0.650000	0.86243	TTC		0.557	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		19	25	1	0	1.33834e-09	1	1.52587e-09	19	25				
CLOCK	9575	broad.mit.edu	37	4	56315583	56315583	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr4:56315583T>C	ENST00000309964.4	-	16	1679	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G	CLOCK_ENST00000513440.1_Missense_Mutation_p.R477G|CLOCK_ENST00000381322.1_Missense_Mutation_p.R477G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	477	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Interaction with SIRT1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AATGATGACCTTCTTTGCACC	0.398																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1429-1431)Agg>Ggg		clock circadian regulator							189.0	175.0	180.0					4																	56315583		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56315583T>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1429A>G	4.37:g.56315583T>C	ENSP00000308741:p.Arg477Gly					CLOCK_ENST00000513440.1_Missense_Mutation_p.R477G|CLOCK_ENST00000381322.1_Missense_Mutation_p.R477G	p.R477G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		16	1679	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		477					A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.1429A>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	T	9.725	1.160607	0.21454	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.04406	3.63;3.63;3.63	5.59	3.0	0.34707	.	0.044035	0.85682	N	0.000000	T	0.06554	0.0168	M	0.72894	2.215	0.58432	D	0.999997	B	0.14805	0.011	B	0.15484	0.013	T	0.16305	-1.0407	10	0.23302	T	0.38	.	8.0719	0.30693	0.0:0.0715:0.1356:0.793	.	477	O15516	CLOCK_HUMAN	G	477	ENSP00000308741:R477G;ENSP00000370723:R477G;ENSP00000426983:R477G	ENSP00000308741:R477G	R	-	1	2	CLOCK	56010340	1.000000	0.71417	0.979000	0.43373	0.009000	0.06853	3.177000	0.50871	1.053000	0.40415	-0.256000	0.11100	AGG		0.398	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		45	31	0	0	0	1	0	45	31				
ANKRD12	23253	broad.mit.edu	37	18	9256432	9256432	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:9256432C>T	ENST00000262126.4	+	9	3407	c.3167C>T	c.(3166-3168)tCa>tTa	p.S1056L	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1033L|ANKRD12_ENST00000383440.2_Missense_Mutation_p.S1033L	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1056						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAACCTAAGTCATCACCAGCA	0.328																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(3097-3099)tCa>tTa		ankyrin repeat domain 12							88.0	92.0	91.0					18																	9256432		2197	4296	6493	SO:0001583	missense	23253					nucleus		g.chr18:9256432C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3167C>T	18.37:g.9256432C>T	ENSP00000262126:p.Ser1056Leu					ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1056L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1033L	p.S1033L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	3355	+			1056					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.3098C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	5.282	0.237386	0.10023	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.41758	0.99;0.99	5.17	2.38	0.29361	.	0.613161	0.16497	N	0.211825	T	0.20780	0.0500	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18085	-1.0348	10	0.30078	T	0.28	-1.9409	8.0244	0.30427	0.0:0.6801:0.0:0.3199	.	1033;1056	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	L	1033;1056	ENSP00000372932:S1033L;ENSP00000262126:S1056L	ENSP00000262126:S1056L	S	+	2	0	ANKRD12	9246432	0.672000	0.27530	0.961000	0.40146	0.989000	0.77384	2.333000	0.43912	0.192000	0.20272	0.650000	0.86243	TCA		0.328	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		51	56	0	0	0	1	0	51	56				
SFRP4	6424	broad.mit.edu	37	7	37951817	37951817	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:37951817C>T	ENST00000436072.2	-	4	1072	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	232	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R232Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACTTGAGTTCGAGGGATGGG	0.478																																						ENST00000436072.2																			2	Substitution - Missense(2)	p.R232Q(2)	large_intestine(1)|endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(694-696)cGa>cAa		secreted frizzled-related protein 4							237.0	215.0	222.0					7																	37951817		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37951817C>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.695G>A	7.37:g.37951817C>T	ENSP00000410715:p.Arg232Gln					EPDR1_ENST00000476620.1_Intron	p.R232Q	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			4	1072	-			232			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.695G>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465911	0.84425	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.22336	1.96;1.96	5.9	5.02	0.67125	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.295141	0.33834	N	0.004504	T	0.18087	0.0434	L	0.28400	0.85	0.29939	N	0.821191	B	0.33940	0.433	B	0.34722	0.188	T	0.07751	-1.0756	10	0.51188	T	0.08	.	13.8802	0.63678	0.0:0.9257:0.0:0.0743	.	232	Q6FHJ7	SFRP4_HUMAN	Q	232;229;98	ENSP00000410715:R232Q;ENSP00000402262:R98Q	ENSP00000410715:R232Q	R	-	2	0	SFRP4	37918342	0.918000	0.31147	0.999000	0.59377	0.997000	0.91878	1.773000	0.38563	1.483000	0.48342	0.650000	0.86243	CGA		0.478	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		17	56	0	0	0	1	0	17	56				
ARHGAP15	55843	broad.mit.edu	37	2	144314011	144314011	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:144314011C>A	ENST00000295095.6	+	11	1127	c.960C>A	c.(958-960)ggC>ggA	p.G320G	RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	320	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GAGTTAGTGGCAATCTGGCAA	0.313																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(958-960)ggC>ggA		Rho GTPase activating protein 15							197.0	204.0	201.0					2																	144314011		2203	4297	6500	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144314011C>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.960C>A	2.37:g.144314011C>A						RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	p.G320G	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	11	1127	+			320			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.960C>A	CCDS2184.1																																																																																				0.313	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		57	5	1	0	1.72039e-30	1	2.21547e-30	57	5				
NFS1	9054	broad.mit.edu	37	20	34262286	34262286	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:34262286G>T	ENST00000374092.4	-	10	1192	c.1122C>A	c.(1120-1122)gcC>gcA	p.A374A	RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.P34H|NFS1_ENST00000541387.1_Silent_p.A323A|NFS1_ENST00000498084.1_5'Flank|NFS1_ENST00000374085.1_Silent_p.A314A|NFS1_ENST00000397425.1_Silent_p.A314A|NFS1_ENST00000540053.1_Silent_p.A172A	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	374					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	CTGAGGATAAGGCAACGTCCT	0.512																																						ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1120-1122)gcC>gcA		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						120.0	108.0	112.0					20																	34262286		2203	4300	6503	SO:0001819	synonymous_variant	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34262286G>T	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1122C>A	20.37:g.34262286G>T						NFS1_ENST00000540053.1_Silent_p.A172A|NFS1_ENST00000397425.1_Silent_p.A314A|NFS1_ENST00000374085.1_Silent_p.A314A|NFS1_ENST00000541387.1_Silent_p.A323A	p.A374A	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		10	1192	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		374					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Silent	SNP	ENST00000374092.4	37	c.1122C>A	CCDS13262.1																																																																																				0.512	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		41	76	1	0	9.39024e-22	1	1.15127e-21	41	76				
WDR3	10885	broad.mit.edu	37	1	118496120	118496120	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:118496120G>T	ENST00000349139.5	+	21	2271	c.2224G>T	c.(2224-2226)Gac>Tac	p.D742Y		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	742						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GACTCAAGGTGACAGTTACTT	0.333																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(2224-2226)Gac>Tac		WD repeat domain 3							89.0	88.0	88.0					1																	118496120		2203	4299	6502	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118496120G>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2224G>T	1.37:g.118496120G>T	ENSP00000308179:p.Asp742Tyr						p.D742Y	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	21	2271	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	742						Missense_Mutation	SNP	ENST00000349139.5	37	c.2224G>T	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307304	0.40795	.	.	ENSG00000065183	ENST00000349139	T	0.55234	0.53	5.56	4.65	0.58169	.	0.191126	0.56097	D	0.000039	T	0.33469	0.0864	L	0.38175	1.15	0.80722	D	1	B	0.32425	0.371	B	0.36885	0.235	T	0.39860	-0.9593	10	0.72032	D	0.01	-5.0006	14.5219	0.67856	0.0707:0.0:0.9293:0.0	.	742	Q9UNX4	WDR3_HUMAN	Y	742	ENSP00000308179:D742Y	ENSP00000308179:D742Y	D	+	1	0	WDR3	118297643	1.000000	0.71417	0.965000	0.40720	0.362000	0.29581	6.918000	0.75788	1.359000	0.45940	0.585000	0.79938	GAC		0.333	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		5	21	1	0	0.0215528	1	0.0219201	5	21				
PAK2	5062	broad.mit.edu	37	3	196545014	196545014	+	Silent	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:196545014A>T	ENST00000327134.3	+	12	1462	c.1140A>T	c.(1138-1140)ggA>ggT	p.G380G		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GAATGGAAGGATCTGTTAAGC	0.333																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(1138-1140)ggA>ggT		p21 protein (Cdc42/Rac)-activated kinase 2							96.0	86.0	89.0					3																	196545014		2203	4300	6503	SO:0001819	synonymous_variant	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196545014A>T	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.1140A>T	3.37:g.196545014A>T							p.G380G	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	12	1462	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		380			Protein kinase.		Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	c.1140A>T	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	A	9.718	1.158941	0.21454	.	.	ENSG00000180370	ENST00000426668	.	.	.	5.77	4.59	0.56863	.	.	.	.	.	T	0.58680	0.2139	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55496	-0.8132	4	.	.	.	.	7.9898	0.30233	0.6876:0.1885:0.0:0.1239	.	.	.	.	V	123	.	.	D	+	2	0	PAK2	198029411	0.996000	0.38824	1.000000	0.80357	0.975000	0.68041	0.569000	0.23638	1.028000	0.39785	0.533000	0.62120	GAT		0.333	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		29	20	0	0	0	1	0	29	20				
PPP1R9A	55607	broad.mit.edu	37	7	94740703	94740703	+	Splice_Site	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:94740703G>T	ENST00000433881.1	+	3	2060	c.1528G>T	c.(1528-1530)Gat>Tat	p.D510Y	PPP1R9A_ENST00000289495.5_Splice_Site_p.D510Y|PPP1R9A_ENST00000340694.4_Splice_Site_p.D510Y|PPP1R9A_ENST00000424654.1_Splice_Site_p.D510Y|PPP1R9A_ENST00000433360.1_Splice_Site_p.D510Y|PPP1R9A_ENST00000456331.2_Splice_Site_p.D510Y			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	510	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCTAGAGAAAGGTTCGTGAGT	0.368										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.e2+1		protein phosphatase 1, regulatory subunit 9A							56.0	57.0	56.0					7																	94740703		2203	4300	6503	SO:0001630	splice_region_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94740703G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1528+1G>T	7.37:g.94740703G>T		HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Splice_Site_p.D510_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.D510_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.D510_splice|PPP1R9A_ENST00000456331.2_Splice_Site_p.D510_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.D510_splice	p.D510_splice	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1744	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		510			PDZ.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Splice_Site	SNP	ENST00000433881.1	37	c.1528_splice	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369878	0.61624	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.98	4.98	0.66077	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.77712	2.385	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.998	D;D;D;D;D	0.83275	0.986;0.989;0.989;0.996;0.991	T	0.70414	-0.4878	10	0.66056	D	0.02	.	18.8349	0.92157	0.0:0.0:1.0:0.0	.	510;510;510;510;510	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Y	510	ENSP00000405514:D510Y;ENSP00000344524:D510Y;ENSP00000411342:D510Y;ENSP00000398870:D510Y;ENSP00000289495:D510Y;ENSP00000402893:D510Y	ENSP00000289495:D510Y	D	+	1	0	PPP1R9A	94578639	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	9.587000	0.98229	2.755000	0.94549	0.650000	0.86243	GAT		0.368	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	Missense_Mutation	17	13	1	0	2.94398e-08	1	3.31429e-08	17	13				
IKZF2	22807	broad.mit.edu	37	2	213878616	213878616	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:213878616T>A	ENST00000434687.1	-	8	1064	c.755A>T	c.(754-756)gAc>gTc	p.D252V	IKZF2_ENST00000342002.2_Missense_Mutation_p.D258V|IKZF2_ENST00000457361.1_Missense_Mutation_p.D252V|IKZF2_ENST00000374319.4_Missense_Mutation_p.D226V|IKZF2_ENST00000451136.2_Missense_Mutation_p.D180V|IKZF2_ENST00000374327.4_Missense_Mutation_p.D107V|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000421754.2_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	252					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AATATTGTTGTCCATAATAGG	0.383																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(754-756)gAc>gTc		IKAROS family zinc finger 2 (Helios)							126.0	124.0	125.0					2																	213878616		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213878616T>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.755A>T	2.37:g.213878616T>A	ENSP00000412869:p.Asp252Val					IKZF2_ENST00000451136.2_Missense_Mutation_p.D180V|IKZF2_ENST00000434687.1_Missense_Mutation_p.D252V|IKZF2_ENST00000374319.4_Missense_Mutation_p.D226V|IKZF2_ENST00000342002.2_Missense_Mutation_p.D258V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.D107V|IKZF2_ENST00000421754.2_Intron	p.D252V	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	7	923	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	252					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.755A>T	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620979	0.46736	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.15834	3.12;3.09;3.12;3.14;3.03;2.39	5.4	5.4	0.78164	.	0.068854	0.64402	D	0.000013	T	0.18045	0.0433	L	0.53249	1.67	0.80722	D	1	B;B;B;B;B	0.12013	0.0;0.005;0.0;0.0;0.001	B;B;B;B;B	0.14578	0.001;0.011;0.001;0.001;0.002	T	0.02519	-1.1147	10	0.36615	T	0.2	-12.5298	11.6754	0.51427	0.0:0.0:0.1479:0.8521	.	180;107;226;252;30	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	V	252;258;252;226;180;107	ENSP00000410447:D252V;ENSP00000342876:D258V;ENSP00000412869:D252V;ENSP00000363439:D226V;ENSP00000395203:D180V;ENSP00000363447:D107V	ENSP00000342876:D258V	D	-	2	0	IKZF2	213586861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.331000	0.65905	2.171000	0.68590	0.459000	0.35465	GAC		0.383	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		38	4	0	0	0	1	0	38	4				
DOCK2	1794	broad.mit.edu	37	5	169507197	169507197	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:169507197A>T	ENST00000256935.8	+	50	5277	c.5197A>T	c.(5197-5199)Acc>Tcc	p.T1733S	DOCK2_ENST00000520908.1_Missense_Mutation_p.T1225S|DOCK2_ENST00000540750.1_Missense_Mutation_p.T794S|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1733					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGAGTGACACCAACCTCTC	0.552																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5197-5199)Acc>Tcc		dedicator of cytokinesis 2							128.0	107.0	114.0					5																	169507197		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169507197A>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5197A>T	5.37:g.169507197A>T	ENSP00000256935:p.Thr1733Ser					DOCK2_ENST00000540750.1_Missense_Mutation_p.T794S|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1225S|DOCK2_ENST00000523351.1_3'UTR	p.T1733S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5277	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1733					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5197A>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049008	0.75846	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09255	3.69;3.29;3.0	4.93	4.93	0.64822	.	0.115115	0.64402	D	0.000020	T	0.17408	0.0418	L	0.27053	0.805	0.38894	D	0.957177	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.78314	0.985;0.991;0.97	T	0.08868	-1.0701	10	0.08599	T	0.76	.	13.9105	0.63864	1.0:0.0:0.0:0.0	.	1225;289;1733	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	S	1733;1225;794	ENSP00000256935:T1733S;ENSP00000429283:T1225S;ENSP00000438827:T794S	ENSP00000256935:T1733S	T	+	1	0	DOCK2	169439775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.153000	0.89640	1.984000	0.57885	0.529000	0.55759	ACC		0.552	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		39	5	0	0	0	1	0	39	5				
CARD11	84433	broad.mit.edu	37	7	2962292	2962292	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:2962292G>T	ENST00000396946.4	-	17	2648	c.2245C>A	c.(2245-2247)Ctg>Atg	p.L749M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	749	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTAGTGCAGCGTGACGGGG	0.627			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2245-2247)Ctg>Atg		caspase recruitment domain family, member 11							134.0	97.0	110.0					7																	2962292		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2962292G>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2245C>A	7.37:g.2962292G>T	ENSP00000380150:p.Leu749Met						p.L749M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	17	2648	-		Ovarian(82;0.0115)	749			PDZ.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2245C>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165936	0.78339	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.62105	0.05;0.45	5.14	4.26	0.50523	PDZ/DHR/GLGF (2);	0.086995	0.48767	D	0.000179	T	0.73281	0.3567	L	0.61036	1.89	0.54753	D	0.999983	D	0.89917	1.0	D	0.83275	0.996	T	0.74225	-0.3734	10	0.72032	D	0.01	-17.5458	8.455	0.32893	0.0775:0.0:0.7697:0.1528	.	749	Q9BXL7	CAR11_HUMAN	M	749;220	ENSP00000380150:L749M;ENSP00000347695:L220M	ENSP00000347695:L220M	L	-	1	2	CARD11	2928818	1.000000	0.71417	0.976000	0.42696	0.984000	0.73092	5.748000	0.68697	1.170000	0.42753	0.555000	0.69702	CTG		0.627	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		32	95	1	0	8.16721e-17	1	9.68166e-17	32	95				
RTN1	6252	broad.mit.edu	37	14	60193673	60193673	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:60193673C>T	ENST00000267484.5	-	3	2064	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	577					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.A577T(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGGCGGGGCGCCAGGACCT	0.582																																						ENST00000267484.5																			1	Substitution - Missense(1)	p.A577T(1)	ovary(1)	central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1729-1731)Gcc>Acc		reticulon 1							20.0	22.0	21.0					14																	60193673		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193673C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1729G>A	14.37:g.60193673C>T	ENSP00000267484:p.Ala577Thr						p.A577T	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	2064	-			577					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1729G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015652	0.19355	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.24538	1.85	4.36	-1.58	0.08479	.	4.436180	0.00780	N	0.001261	T	0.15652	0.0377	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.07443	-1.0772	10	0.15066	T	0.55	.	1.8458	0.03159	0.1876:0.4109:0.1965:0.205	.	577	Q16799	RTN1_HUMAN	T	157;577;503	ENSP00000267484:A577T	ENSP00000267484:A577T	A	-	1	0	RTN1	59263426	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.503000	0.06383	-0.501000	0.06605	-1.255000	0.01485	GCC		0.582	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			15	17	0	0	0	1	0	15	17				
PTPRD	5789	broad.mit.edu	37	9	8499688	8499688	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:8499688C>T	ENST00000381196.4	-	22	2824	c.2281G>A	c.(2281-2283)Ggc>Agc	p.G761S	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.G748S|PTPRD_ENST00000358503.5_Missense_Mutation_p.G748S|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.G761S|PTPRD_ENST00000356435.5_Missense_Mutation_p.G761S|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	761	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGGGCTGGCCCTTGGGCTCA	0.433										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2281-2283)Ggc>Agc		protein tyrosine phosphatase, receptor type, D							179.0	154.0	163.0					9																	8499688		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499688C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2281G>A	9.37:g.8499688C>T	ENSP00000370593:p.Gly761Ser	TSP Lung(15;0.13)				PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.G748S|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.G761S|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.G748S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G761S|PTPRD_ENST00000471274.1_5'UTR	p.G761S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	22	2824	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	761			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2281G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310895	0.60414	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.53423	0.62;0.62;0.66;2.37;0.62	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	L	0.58669	1.825	0.80722	D	1	B;D;B	0.89917	0.309;1.0;0.08	B;D;B	0.97110	0.343;1.0;0.139	T	0.63207	-0.6689	9	.	.	.	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	748;761;761	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	S	761;761;748;748;761	ENSP00000370593:G761S;ENSP00000348812:G761S;ENSP00000353187:G748S;ENSP00000351293:G748S;ENSP00000438164:G761S	.	G	-	1	0	PTPRD	8489688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.699000	0.92147	0.591000	0.81541	GGC		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			18	63	0	0	0	1	0	18	63				
TXNL4B	54957	broad.mit.edu	37	16	72122887	72122887	+	Splice_Site	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:72122887C>A	ENST00000268483.3	-	3	604	c.283G>T	c.(283-285)Gga>Tga	p.G95*	TXNL4B_ENST00000423037.1_Splice_Site_p.G95*|TXNL4B_ENST00000426362.2_Splice_Site_p.G95*|RP11-384M15.3_ENST00000561827.1_RNA	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	95					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						TGCACTTACCCATAATCCACT	0.383																																						ENST00000268483.3																			0				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						c.e3+1		thioredoxin-like 4B							152.0	144.0	146.0					16																	72122887		2198	4300	6498	SO:0001630	splice_region_variant	54957				mitosis|mRNA processing|RNA splicing	spliceosomal complex		g.chr16:72122887C>A	BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.284+1G>T	16.37:g.72122887C>A						TXNL4B_ENST00000423037.1_Splice_Site_p.G95_splice|TXNL4B_ENST00000426362.2_Splice_Site_p.G95_splice	p.G95_splice	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN			3	604	-			95					D3DWS6	Splice_Site	SNP	ENST00000268483.3	37	c.284_splice	CCDS10906.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288308	0.80803	.	.	ENSG00000140830	ENST00000268483;ENST00000426362;ENST00000423037	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9375	0.70967	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000268483:G95X	G	-	1	0	TXNL4B	70680388	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.606000	0.82863	2.463000	0.83235	0.561000	0.74099	GGA		0.383	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853	Nonsense_Mutation	48	29	1	0	4.33383e-22	1	5.35004e-22	48	29				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390368	52390368	+	RNA	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:52390368A>G	ENST00000443374.2	+	0	1557				RP11-50E11.3_ENST00000609579.1_RNA																							ACCAAGGATTATACTTCAAAA	0.393																																						ENST00000443374.1																			0																																																			104355295							g.chr10:52390368A>G																													10.37:g.52390368A>G														0	1061	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.393	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			11	6	0	0	0	1	0	11	6				
BMP6	654	broad.mit.edu	37	6	7727426	7727426	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:7727426C>A	ENST00000283147.6	+	1	397	c.238C>A	c.(238-240)Cag>Aag	p.Q80K		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	80					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)					GCGGGAGATGCAGAAGGAGAT	0.746																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(238-240)Cag>Aag		bone morphogenetic protein 6							6.0	8.0	8.0					6																	7727426		2073	4118	6191	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.chr6:7727426C>A	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.238C>A	6.37:g.7727426C>A	ENSP00000283147:p.Gln80Lys						p.Q80K	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	397	+	Ovarian(93;0.0721)		80					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.238C>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300149	0.81136	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.62788	-0.0	3.15	2.23	0.28157	Transforming growth factor-beta, N-terminal (1);	0.069293	0.64402	N	0.000016	T	0.68016	0.2955	M	0.71871	2.18	0.48830	D	0.999719	D	0.76494	0.999	D	0.91635	0.999	T	0.72014	-0.4418	10	0.87932	D	0	.	11.051	0.47889	0.1878:0.8121:0.0:0.0	.	80	P22004	BMP6_HUMAN	K	2;80;43	ENSP00000283147:Q80K	ENSP00000283147:Q80K	Q	+	1	0	BMP6	7672425	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.075000	0.64407	0.584000	0.29591	0.462000	0.41574	CAG		0.746	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		8	27	1	0	0.00829132	1	0.00848083	8	27				
KDM6B	23135	broad.mit.edu	37	17	7752161	7752161	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:7752161C>T	ENST00000448097.2	+	11	2886	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L	KDM6B_ENST00000254846.5_Missense_Mutation_p.S852L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	852	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCGCCCACCTCAGCGGCCCCT	0.716																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2554-2556)tCa>tTa		lysine (K)-specific demethylase 6B							34.0	43.0	40.0					17																	7752161		2185	4282	6467	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752161C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2555C>T	17.37:g.7752161C>T	ENSP00000412513:p.Ser852Leu					KDM6B_ENST00000448097.2_Missense_Mutation_p.S852L	p.S852L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2944	+			852			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2555C>T		.	.	.	.	.	.	.	.	.	.	C	2.682	-0.275078	0.05679	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.76968	-1.06;-1.06	4.47	4.47	0.54385	.	0.693870	0.13118	N	0.412415	T	0.61986	0.2391	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.12837	0.001;0.008	T	0.53781	-0.8390	10	0.72032	D	0.01	-13.5579	8.6097	0.33795	0.0:0.8958:0.0:0.1042	.	852;852	O15054;O15054-1	KDM6B_HUMAN;.	L	852	ENSP00000254846:S852L;ENSP00000412513:S852L	ENSP00000254846:S852L	S	+	2	0	KDM6B	7692886	0.145000	0.22656	0.982000	0.44146	0.305000	0.27757	1.816000	0.38992	2.490000	0.84030	0.462000	0.41574	TCA		0.716	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		209	14	0	0	0	1	0	209	14				
VWA3A	146177	broad.mit.edu	37	16	22155589	22155589	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:22155589A>C	ENST00000389398.5	+	26	2710	c.2614A>C	c.(2614-2616)Aaa>Caa	p.K872Q	VWA3A_ENST00000563755.1_5'Flank|VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	872						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ATATGGGCTCAAAAAATTGAA	0.438																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(2614-2616)Aaa>Caa		von Willebrand factor A domain containing 3A							55.0	54.0	55.0					16																	22155589		1900	4121	6021	SO:0001583	missense	146177					extracellular region		g.chr16:22155589A>C	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2614A>C	16.37:g.22155589A>C	ENSP00000374049:p.Lys872Gln					VWA3A_ENST00000389397.4_5'UTR	p.K872Q	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	26	2710	+			872					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.2614A>C	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179096	0.78564	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.15139	2.45	5.05	5.05	0.67936	.	0.196730	0.43260	D	0.000584	T	0.35682	0.0940	M	0.81497	2.545	0.80722	D	1	D	0.62365	0.991	P	0.54924	0.764	T	0.20338	-1.0278	10	0.48119	T	0.1	.	13.0371	0.58879	1.0:0.0:0.0:0.0	.	872	A6NCI4	VWA3A_HUMAN	Q	872;495	ENSP00000374049:K872Q	ENSP00000299840:K495Q	K	+	1	0	VWA3A	22063090	1.000000	0.71417	0.791000	0.31998	0.934000	0.57294	6.657000	0.74402	2.025000	0.59659	0.460000	0.39030	AAA		0.438	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			14	10	0	0	0	1	0	14	10				
IDI2	91734	broad.mit.edu	37	10	1065569	1065569	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:1065569A>T	ENST00000277517.1	-	5	636	c.572T>A	c.(571-573)gTc>gAc	p.V191D	GTPBP4_ENST00000360803.4_3'UTR	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	191	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GGTGACTTTGACTTCACCCCT	0.562																																						ENST00000277517.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(571-573)gTc>gAc		isopentenyl-diphosphate delta isomerase 2							68.0	66.0	67.0					10																	1065569		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1065569A>T	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.572T>A	10.37:g.1065569A>T	ENSP00000277517:p.Val191Asp					GTPBP4_ENST00000360803.4_3'UTR	p.V191D	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	5	636	-		Colorectal(49;0.235)	191			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000277517.1	37	c.572T>A	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.171531	0.38315	.	.	ENSG00000148377	ENST00000277517	.	.	.	3.55	-7.09	0.01553	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.634916	0.15027	U	0.284661	T	0.19406	0.0466	N	0.25332	0.735	0.09310	N	0.999991	D	0.59357	0.985	P	0.51999	0.687	T	0.07693	-1.0759	9	0.59425	D	0.04	-11.0313	0.8101	0.01091	0.3238:0.1154:0.1616:0.3992	.	191	Q9BXS1	IDI2_HUMAN	D	191	.	ENSP00000277517:V191D	V	-	2	0	IDI2	1055569	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	1.144000	0.31565	-1.627000	0.01550	0.155000	0.16302	GTC		0.562	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		25	10	0	0	0	1	0	25	10				
CNGB3	54714	broad.mit.edu	37	8	87588063	87588063	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:87588063G>A	ENST00000320005.5	-	18	2446	c.2399C>T	c.(2398-2400)aCt>aTt	p.T800I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	800					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GACTTCAATAGTAAGAACCTC	0.403																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(2398-2400)aCt>aTt		cyclic nucleotide gated channel beta 3							119.0	107.0	111.0					8																	87588063		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87588063G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2399C>T	8.37:g.87588063G>A	ENSP00000316605:p.Thr800Ile						p.T800I	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			18	2446	-			800					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.2399C>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825518	0.50739	.	.	ENSG00000170289	ENST00000320005	D	0.97328	-4.34	5.92	2.03	0.26663	.	0.301676	0.26662	N	0.023155	D	0.94098	0.8108	L	0.60455	1.87	0.09310	N	0.999991	B;B	0.24721	0.077;0.11	B;B	0.21917	0.037;0.024	D	0.87195	0.2237	10	0.46703	T	0.11	.	6.6066	0.22729	0.2173:0.1281:0.6546:0.0	.	795;800	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	I	800	ENSP00000316605:T800I	ENSP00000316605:T800I	T	-	2	0	CNGB3	87657179	0.740000	0.28207	0.062000	0.19696	0.858000	0.48976	0.842000	0.27627	0.087000	0.17167	0.467000	0.42956	ACT		0.403	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		35	32	0	0	0	1	0	35	32				
NEO1	4756	broad.mit.edu	37	15	73562574	73562574	+	Splice_Site	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:73562574G>A	ENST00000339362.5	+	18	3165	c.2718G>A	c.(2716-2718)aaG>aaA	p.K906K	NEO1_ENST00000261908.6_Splice_Site_p.K906K|NEO1_ENST00000558964.1_Splice_Site_p.K906K|NEO1_ENST00000560262.1_Splice_Site_p.K906K			Q92859	NEO1_HUMAN	neogenin 1	906	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAAGTACAAGGTACTGACAC	0.428																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.e18+1		neogenin 1							79.0	74.0	76.0					15																	73562574		2198	4297	6495	SO:0001630	splice_region_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73562574G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2718+1G>A	15.37:g.73562574G>A						NEO1_ENST00000560262.1_Splice_Site_p.K906_splice|NEO1_ENST00000261908.6_Splice_Site_p.K906_splice|NEO1_ENST00000558964.1_Splice_Site_p.K906_splice	p.K906_splice			Q92859	NEO1_HUMAN			18	3165	+			906			Fibronectin type-III 5.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Splice_Site	SNP	ENST00000339362.5	37	c.2718_splice	CCDS10247.1																																																																																				0.428	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	Silent	13	34	0	0	0	1	0	13	34				
ITIH5	80760	broad.mit.edu	37	10	7621799	7621799	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:7621799A>T	ENST00000256861.6	-	9	1415	c.1337T>A	c.(1336-1338)cTg>cAg	p.L446Q	ITIH5_ENST00000446830.2_Missense_Mutation_p.L228Q|ITIH5_ENST00000298441.6_Missense_Mutation_p.L232Q|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.L446Q|ITIH5_ENST00000397146.2_Missense_Mutation_p.L446Q	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	446	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTTCTCCAGCAGCCTGAAGTC	0.612																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1336-1338)cTg>cAg		inter-alpha-trypsin inhibitor heavy chain family, member 5							124.0	111.0	115.0					10																	7621799		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621799A>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1337T>A	10.37:g.7621799A>T	ENSP00000256861:p.Leu446Gln					ITIH5_ENST00000397146.2_Missense_Mutation_p.L446Q|ITIH5_ENST00000298441.6_Missense_Mutation_p.L232Q|ITIH5_ENST00000446830.2_Missense_Mutation_p.L228Q|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.L446Q	p.L446Q	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			9	1415	-			446			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1337T>A		.	.	.	.	.	.	.	.	.	.	A	27.3	4.818061	0.90790	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.2	5.2	0.72013	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	.	.	.	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.92414	0.5940	9	0.87932	D	0	-19.0771	15.0399	0.71781	1.0:0.0:0.0:0.0	.	446;446;232	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	Q	446;446;232;228;446	ENSP00000256861:L446Q;ENSP00000380333:L446Q;ENSP00000298441:L232Q;ENSP00000387969:L228Q;ENSP00000380332:L446Q	ENSP00000256861:L446Q	L	-	2	0	ITIH5	7661805	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	8.651000	0.91078	1.960000	0.56953	0.379000	0.24179	CTG		0.612	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		31	55	0	0	0	1	0	31	55				
VEZF1	7716	broad.mit.edu	37	17	56060120	56060120	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:56060120G>C	ENST00000581208.1	-	2	708	c.668C>G	c.(667-669)tCt>tGt	p.S223C	VEZF1_ENST00000584396.1_Missense_Mutation_p.S214C	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	223					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TCCTTCATGAGACCTCACATG	0.448																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(640-642)tCt>tGt		vascular endothelial zinc finger 1							137.0	116.0	123.0					17																	56060120		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060120G>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.668C>G	17.37:g.56060120G>C	ENSP00000462337:p.Ser223Cys					VEZF1_ENST00000581208.1_Missense_Mutation_p.S223C	p.S214C			Q14119	VEZF1_HUMAN			2	729	-			223						Missense_Mutation	SNP	ENST00000581208.1	37	c.641C>G	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635565	0.67130	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	L	0.52266	1.64	0.80722	D	1	D	0.56287	0.975	P	0.56823	0.807	T	0.74648	-0.3595	9	0.72032	D	0.01	-8.7998	19.0771	0.93167	0.0:0.0:1.0:0.0	.	223	Q14119	VEZF1_HUMAN	C	223	.	ENSP00000258963:S223C	S	-	2	0	VEZF1	53415119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.859000	0.99545	2.522000	0.85027	0.551000	0.68910	TCT		0.448	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			55	4	0	0	0	1	0	55	4				
TBCD	6904	broad.mit.edu	37	17	80828234	80828234	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:80828234C>G	ENST00000355528.4	+	14	1583	c.1453C>G	c.(1453-1455)Ccc>Gcc	p.P485A	TBCD_ENST00000539345.2_Missense_Mutation_p.P485A|TBCD_ENST00000397466.2_Missense_Mutation_p.P99A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	485					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGAGCTGAAGCCCTTTGTGAC	0.647																																						ENST00000355528.4																			0											c.(1453-1455)Ccc>Gcc		tubulin folding cofactor D							31.0	36.0	34.0					17																	80828234		2155	4249	6404	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80828234C>G	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1453C>G	17.37:g.80828234C>G	ENSP00000347719:p.Pro485Ala					TBCD_ENST00000397466.2_Missense_Mutation_p.P99A|TBCD_ENST00000539345.2_Missense_Mutation_p.P485A	p.P485A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		14	1583	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	485					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.1453C>G	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158445	0.78114	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.18174	2.23;2.23	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.55103	1.725	0.80722	D	1	D;D;P	0.58970	0.966;0.984;0.863	P;P;P	0.58130	0.493;0.833;0.666	T	0.00575	-1.1663	9	.	.	.	.	16.1871	0.81960	0.0:1.0:0.0:0.0	.	485;485;485	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	A	485;236;99;485	ENSP00000347719:P485A;ENSP00000380608:P99A	.	P	+	1	0	TBCD	78421523	1.000000	0.71417	0.945000	0.38365	0.455000	0.32408	5.333000	0.65917	2.591000	0.87537	0.655000	0.94253	CCC		0.647	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		27	3	0	0	0	1	0	27	3				
KPRP	448834	broad.mit.edu	37	1	152732795	152732795	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:152732795C>A	ENST00000606109.1	+	1	759	c.731C>A	c.(730-732)aCt>aAt	p.T244N	KPRP_ENST00000368773.1_Missense_Mutation_p.T244N			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	244						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGAGCTTCACTGAACAGCAC	0.607																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(730-732)aCt>aAt		keratinocyte proline-rich protein							62.0	68.0	66.0					1																	152732795		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732795C>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.731C>A	1.37:g.152732795C>A	ENSP00000475216:p.Thr244Asn					KPRP_ENST00000606109.1_Missense_Mutation_p.T244N	p.T244N	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	789	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		244						Missense_Mutation	SNP	ENST00000606109.1	37	c.731C>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	3.621	-0.077554	0.07184	.	.	ENSG00000203786	ENST00000368773	T	0.13307	2.6	5.24	3.3	0.37823	.	0.708846	0.12271	N	0.483778	T	0.04137	0.0115	N	0.24115	0.695	0.09310	N	1	P	0.36837	0.571	B	0.40228	0.323	T	0.37009	-0.9724	10	0.49607	T	0.09	-0.2619	8.7414	0.34560	0.1715:0.6633:0.1652:0.0	.	244	Q5T749	KPRP_HUMAN	N	244	ENSP00000357762:T244N	ENSP00000357762:T244N	T	+	2	0	KPRP	150999419	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.403000	0.20982	0.664000	0.31047	0.655000	0.94253	ACT		0.607	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		69	130	1	0	1.08241e-25	1	1.37412e-25	69	130				
PPP6R3	55291	broad.mit.edu	37	11	68312325	68312325	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:68312325G>T	ENST00000393800.2	+	4	501	c.247G>T	c.(247-249)Gag>Tag	p.E83*	PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000534534.1_5'UTR|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000393799.2_Nonsense_Mutation_p.E83*	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	83					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TATATCTTGTGAGTTGCTCAC	0.343																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(247-249)Gag>Tag		protein phosphatase 6, regulatory subunit 3							89.0	86.0	87.0					11																	68312325		2200	4294	6494	SO:0001587	stop_gained	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68312325G>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.247G>T	11.37:g.68312325G>T	ENSP00000377389:p.Glu83*					PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000534534.1_5'UTR|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.E83*	p.E83*			Q5H9R7	PP6R3_HUMAN			4	514	+			83					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Nonsense_Mutation	SNP	ENST00000393800.2	37	c.247G>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	37	6.479414	0.97598	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	.	.	.	4.97	4.97	0.65823	.	0.095795	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4813	0.90812	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000265636:E83X	E	+	1	0	PPP6R3	68068901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.538000	0.98072	2.612000	0.88384	0.485000	0.47835	GAG		0.343	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		36	16	1	0	2.51541e-25	1	3.17083e-25	36	16				
SEMA4G	57715	broad.mit.edu	37	10	102732979	102732979	+	Missense_Mutation	SNP	G	G	A	rs202147105		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:102732979G>A	ENST00000370250.4	+	2	591	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	SEMA4G_ENST00000210633.3_Missense_Mutation_p.R73Q|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R73Q|MIR608_ENST00000384820.1_RNA	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	73	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTGGGAGCCCGAGGTGCCCTG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18125	0.001		0.0	False		,,,				2504	0.0					ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(217-219)cGa>cAa		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	41.0	42.0	42.0		218,218	5.2	1.0	10		42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SEMA4G	NM_001203244.1,NM_017893.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	73/703,73/844	102732979	1,13005	2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102732979G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.218G>A	10.37:g.102732979G>A	ENSP00000359270:p.Arg73Gln					SEMA4G_ENST00000517724.1_Missense_Mutation_p.R73Q|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R73Q	p.R73Q			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	2	296	+		Colorectal(252;0.234)	73			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.218G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.441830	0.96187	0.0	1.16E-4	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000001	T	0.67268	0.2875	M	0.88979	2.995	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.968	T	0.74827	-0.3532	10	0.87932	D	0	.	17.2637	0.87079	0.0:0.0:1.0:0.0	.	73;73;73	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	Q	73	ENSP00000428896:R73Q;ENSP00000430103:R73Q;ENSP00000359270:R73Q;ENSP00000430175:R73Q;ENSP00000210633:R73Q	ENSP00000210633:R73Q	R	+	2	0	SEMA4G	102722969	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.819000	0.91997	2.389000	0.81357	0.585000	0.79938	CGA		0.602	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			21	23	0	0	0	1	0	21	23				
ZCCHC14	23174	broad.mit.edu	37	16	87525410	87525410	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:87525410G>A	ENST00000268616.4	-	1	241	c.24C>T	c.(22-24)ttC>ttT	p.F8F	RP11-482M8.1_ENST00000565824.1_lincRNA	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	8							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGTGGAAGCTGAAGGCCGGGT	0.677																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(22-24)ttC>ttT		zinc finger, CCHC domain containing 14							26.0	28.0	28.0					16																	87525410		2195	4295	6490	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87525410G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.24C>T	16.37:g.87525410G>A							p.F8F	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	1	241	-			8					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.24C>T	CCDS10961.1																																																																																				0.677	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		31	17	0	0	0	1	0	31	17				
MEIS1	4211	broad.mit.edu	37	2	66691249	66691249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:66691249G>A	ENST00000272369.9	+	7	1096	c.639G>A	c.(637-639)tgG>tgA	p.W213*	MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000560281.2_Nonsense_Mutation_p.W213*|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.W213*|MEIS1_ENST00000488550.1_Nonsense_Mutation_p.W213*|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.W211*|MEIS1_ENST00000444274.2_Nonsense_Mutation_p.W181*|MEIS1_ENST00000495021.2_Nonsense_Mutation_p.W148*	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	213	Ser/Thr-rich.				angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGCCCTCTTGGAACAGAGATC	0.542																																						ENST00000488550.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(637-639)tgG>tgA		Meis homeobox 1							50.0	51.0	51.0					2																	66691249		1953	4135	6088	SO:0001587	stop_gained	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66691249G>A		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.639G>A	2.37:g.66691249G>A	ENSP00000272369:p.Trp213*					MEIS1_ENST00000495021.2_Nonsense_Mutation_p.W148*|MEIS1_ENST00000272369.9_Nonsense_Mutation_p.W213*|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.W211*|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000560281.2_Nonsense_Mutation_p.W213*|MEIS1_ENST00000444274.2_Nonsense_Mutation_p.W181*|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.W213*	p.W213*			O00470	MEIS1_HUMAN			7	938	+			213			Ser/Thr-rich.		A8MV50	Nonsense_Mutation	SNP	ENST00000272369.9	37	c.639G>A	CCDS46309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.181882|7.181882	0.98118|0.98118	.|.	.|.	ENSG00000143995|ENSG00000143995	ENST00000409517|ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000437869	D|.	0.95588|.	-3.75|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.74015|.	0.3661|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69045|.	-0.5249|.	5|.	0.54805|0.31617	T|T	0.06|0.26	.|.	19.8155|19.8155	0.96566|0.96566	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	12|213;213;211;181;148;33;69;69	ENSP00000386708:G12E|.	ENSP00000386708:G12E|ENSP00000272369:W213X	G|W	+|+	2|3	0|0	MEIS1|MEIS1	66544753|66544753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.682000|2.682000	0.91365|0.91365	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.542	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		3	2	0	0	0	1	0	3	2				
GABBR2	9568	broad.mit.edu	37	9	101216286	101216286	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:101216286C>G	ENST00000259455.2	-	7	1672	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	405					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGTTGGTCTCGTTCATGGCA	0.557																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(1213-1215)Gag>Cag		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						197.0	171.0	180.0					9																	101216286		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101216286C>G	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1213G>C	9.37:g.101216286C>G	ENSP00000259455:p.Glu405Gln						p.E405Q	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			7	1672	-		Acute lymphoblastic leukemia(62;0.0527)	405					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1213G>C	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250747	0.80135	.	.	ENSG00000136928	ENST00000259455	T	0.21543	2.0	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.37679	0.1012	L	0.38838	1.175	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.01375	-1.1371	10	0.33940	T	0.23	.	17.5351	0.87827	0.0:1.0:0.0:0.0	.	405	O75899	GABR2_HUMAN	Q	405	ENSP00000259455:E405Q	ENSP00000259455:E405Q	E	-	1	0	GABBR2	100256107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.035000	0.70940	2.751000	0.94390	0.650000	0.86243	GAG		0.557	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			51	5	0	0	0	1	0	51	5				
C9	735	broad.mit.edu	37	5	39364513	39364513	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:39364513G>T	ENST00000263408.4	-	1	149	c.54C>A	c.(52-54)atC>atA	p.I18I	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	18					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTGCTGTGAGGATGCTTATTT	0.512																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(52-54)atC>atA		complement component 9							111.0	98.0	102.0					5																	39364513		2203	4300	6503	SO:0001819	synonymous_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39364513G>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.54C>A	5.37:g.39364513G>T						C9_ENST00000509186.1_Intron	p.I18I	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		1	149	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	18						Silent	SNP	ENST00000263408.4	37	c.54C>A	CCDS3929.1																																																																																				0.512	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			4	15	1	0	0.184627	1	0.185665	4	15				
TSPAN2	10100	broad.mit.edu	37	1	115593159	115593159	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:115593159G>C	ENST00000369516.2	-	8	649	c.618C>G	c.(616-618)ttC>ttG	p.F206L	TSPAN2_ENST00000369514.2_Missense_Mutation_p.F178L|TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369515.2_Missense_Mutation_p.F181L	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	206					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GGACCATGCTGAATATCATGC	0.403																																						ENST00000369516.2																			0				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10						c.(616-618)ttC>ttG		tetraspanin 2							157.0	146.0	150.0					1																	115593159		2203	4300	6503	SO:0001583	missense	10100					integral to membrane		g.chr1:115593159G>C	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.618C>G	1.37:g.115593159G>C	ENSP00000358529:p.Phe206Leu					TSPAN2_ENST00000369515.2_Missense_Mutation_p.F181L|TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369514.2_Missense_Mutation_p.F178L	p.F206L	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	8	649	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	206					D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	ENST00000369516.2	37	c.618C>G	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518528	0.64634	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	T;T;T;T	0.77620	-1.11;-1.11;1.34;1.42	6.04	5.08	0.68730	.	0.083478	0.85682	N	0.000000	T	0.78704	0.4325	L	0.49640	1.575	0.52099	D	0.999945	D	0.58268	0.982	P	0.62491	0.903	T	0.76767	-0.2838	10	0.40728	T	0.16	.	13.3921	0.60830	0.0:0.0:0.8428:0.1572	.	206	O60636	TSN2_HUMAN	L	206;181;172;178	ENSP00000358529:F206L;ENSP00000358528:F181L;ENSP00000415256:F172L;ENSP00000358527:F178L	ENSP00000358527:F178L	F	-	3	2	TSPAN2	115394682	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.822000	0.55708	2.873000	0.98535	0.563000	0.77884	TTC		0.403	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		28	21	0	0	0	1	0	28	21				
NELFB	25920	broad.mit.edu	37	9	140150814	140150814	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:140150814C>G	ENST00000343053.4	+	3	637	c.300C>G	c.(298-300)agC>agG	p.S100R		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	100					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGGAGAAGAGCTTTTCTCTGG	0.567																																						ENST00000343053.4																			0											c.(298-300)agC>agG		negative elongation factor complex member B							144.0	127.0	133.0					9																	140150814		2203	4300	6503	SO:0001583	missense	25920							g.chr9:140150814C>G	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.300C>G	9.37:g.140150814C>G	ENSP00000339495:p.Ser100Arg						p.S100R	NM_015456.3	NP_056271.2					3	637	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.300C>G	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514142	0.85389	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.93	2.79	0.32731	.	0.117170	0.85682	D	0.000000	T	0.61198	0.2328	L	0.60455	1.87	0.58432	D	0.999991	D	0.61080	0.989	P	0.53450	0.726	T	0.63726	-0.6572	9	0.72032	D	0.01	-22.0095	8.9987	0.36068	0.0:0.7524:0.0:0.2476	.	100	Q8WX92	NELFB_HUMAN	R	100	.	ENSP00000339495:S100R	S	+	3	2	COBRA1	139270635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.998000	0.40796	1.070000	0.40811	0.561000	0.74099	AGC		0.567	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		77	91	0	0	0	1	0	77	91				
ZIC4	84107	broad.mit.edu	37	3	147108779	147108779	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:147108779G>T	ENST00000383075.3	-	4	1455	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZIC4_ENST00000473123.1_Missense_Mutation_p.H315N|ZIC4_ENST00000484399.1_Missense_Mutation_p.H315N|ZIC4_ENST00000491672.1_Missense_Mutation_p.H109N|ZIC4_ENST00000525172.2_Missense_Mutation_p.H365N|ZIC4_ENST00000425731.3_Missense_Mutation_p.H353N|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	315						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGACTTGTGGCCGCAGTCC	0.697																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(943-945)Cac>Aac		Zic family member 4							21.0	27.0	25.0					3																	147108779		2101	4241	6342	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108779G>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.943C>A	3.37:g.147108779G>T	ENSP00000372553:p.His315Asn					ZIC4_ENST00000525172.2_Missense_Mutation_p.H365N|ZIC4_ENST00000491672.1_Missense_Mutation_p.H109N|ZIC4_ENST00000473123.1_Missense_Mutation_p.H315N|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.H315N|ZIC4_ENST00000425731.3_Missense_Mutation_p.H353N	p.H315N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1455	-			315					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.943C>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952646	0.34471	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.10860	2.91;2.84;2.83;2.91;2.91;2.86	5.18	5.18	0.71444	.	0.902462	0.09164	N	0.839816	T	0.11410	0.0278	N	0.22421	0.69	0.21220	N	0.999754	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.004	T	0.24048	-1.0171	9	0.31617	T	0.26	.	18.6878	0.91571	0.0:0.0:1.0:0.0	.	365;315	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	N	315;353;365;315;315;109	ENSP00000372553:H315N;ENSP00000397695:H353N;ENSP00000435509:H365N;ENSP00000417855:H315N;ENSP00000420775:H315N;ENSP00000418277:H109N	ENSP00000372553:H315N	H	-	1	0	ZIC4	148591469	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	6.368000	0.73104	2.406000	0.81754	0.561000	0.74099	CAC		0.697	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			7	48	1	0	0.248553	1	0.248553	7	48				
BMP6	654	broad.mit.edu	37	6	7727427	7727427	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:7727427A>G	ENST00000283147.6	+	1	398	c.239A>G	c.(238-240)cAg>cGg	p.Q80R		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	80					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)					CGGGAGATGCAGAAGGAGATC	0.746																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(238-240)cAg>cGg		bone morphogenetic protein 6							6.0	8.0	8.0					6																	7727427		2073	4123	6196	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.chr6:7727427A>G	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.239A>G	6.37:g.7727427A>G	ENSP00000283147:p.Gln80Arg						p.Q80R	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	398	+	Ovarian(93;0.0721)		80					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.239A>G	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506614	0.85282	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.65364	-0.15	3.34	3.34	0.38264	Transforming growth factor-beta, N-terminal (1);	0.069293	0.64402	D	0.000016	T	0.72558	0.3475	M	0.81112	2.525	0.48696	D	0.999697	D	0.89917	1.0	D	0.97110	1.0	T	0.77542	-0.2549	10	0.87932	D	0	.	11.8162	0.52211	1.0:0.0:0.0:0.0	.	80	P22004	BMP6_HUMAN	R	2;80;43	ENSP00000283147:Q80R	ENSP00000283147:Q80R	Q	+	2	0	BMP6	7672426	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	6.266000	0.72540	1.499000	0.48617	0.379000	0.24179	CAG		0.746	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		8	28	0	0	0	1	0	8	28				
TRIP12	9320	broad.mit.edu	37	2	230723591	230723591	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:230723591G>C	ENST00000283943.5	-	3	976	c.798C>G	c.(796-798)ttC>ttG	p.F266L	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.F308L|TRIP12_ENST00000543084.1_Missense_Mutation_p.F308L|TRIP12_ENST00000389044.4_Missense_Mutation_p.F308L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	266					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTTAGGGCTGAAACGAGCAG	0.468																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(796-798)ttC>ttG		thyroid hormone receptor interactor 12							94.0	96.0	95.0					2																	230723591		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230723591G>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.798C>G	2.37:g.230723591G>C	ENSP00000283943:p.Phe266Leu					TRIP12_ENST00000409677.1_Missense_Mutation_p.F308L|TRIP12_ENST00000389044.4_Missense_Mutation_p.F308L|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.F308L	p.F266L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	976	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	266					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.798C>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303647	0.60305	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677	T;T	0.41400	1.0;1.0	5.78	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	N	0.14661	0.345	0.54753	D	0.999984	P;P;P	0.49447	0.924;0.924;0.924	P;P;P	0.60682	0.878;0.878;0.878	T	0.05699	-1.0869	10	0.10636	T	0.68	.	10.4197	0.44344	0.1993:0.0:0.8007:0.0	.	266;308;266	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	L	266;308;308;308	ENSP00000283943:F266L;ENSP00000373696:F308L	ENSP00000283943:F266L	F	-	3	2	TRIP12	230431835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.247000	0.51422	2.738000	0.93877	0.655000	0.94253	TTC		0.468	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		40	2	0	0	0	1	0	40	2				
SYNE1	23345	broad.mit.edu	37	6	152621877	152621877	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:152621877T>C	ENST00000367255.5	-	93	18182	c.17581A>G	c.(17581-17583)Act>Gct	p.T5861A	SYNE1_ENST00000341594.5_Missense_Mutation_p.T5473A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5790A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5861A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T385A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5790A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5861					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTCCTCAGTGACCGGTGAC	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(17581-17583)Act>Gct		spectrin repeat containing, nuclear envelope 1							114.0	96.0	102.0					6																	152621877		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152621877T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17581A>G	6.37:g.152621877T>C	ENSP00000356224:p.Thr5861Ala	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.T5473A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5790A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T385A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5861A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5790A	p.T5861A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	93	18182	-		Ovarian(120;0.0955)	5861					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.17581A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.638487	0.87760	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000537033	T;T;T;T;T;T	0.59502	0.35;0.32;0.26;0.34;0.44;1.66	5.63	4.45	0.53987	.	0.000000	0.56097	D	0.000032	T	0.56031	0.1958	M	0.66939	2.045	0.50813	D	0.99989	D;D;D	0.61697	0.983;0.983;0.99	P;P;P	0.56163	0.625;0.625;0.793	T	0.57797	-0.7749	10	0.38643	T	0.18	.	12.073	0.53628	0.129:0.0:0.0:0.871	.	5861;5861;5790	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	A	5861;5790;5861;5790;5473;385;83	ENSP00000356224:T5861A;ENSP00000396024:T5790A;ENSP00000265368:T5861A;ENSP00000390975:T5790A;ENSP00000341887:T5473A;ENSP00000349276:T385A	ENSP00000265368:T5861A	T	-	1	0	SYNE1	152663570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.248000	0.72418	0.947000	0.37659	0.528000	0.53228	ACT		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	27	0	0	0	1	0	32	27				
ABCA12	26154	broad.mit.edu	37	2	215976396	215976396	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:215976396C>G	ENST00000272895.7	-	2	306	c.87G>C	c.(85-87)ttG>ttC	p.L29F	ABCA12_ENST00000412081.1_Missense_Mutation_p.L29F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	29					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCATAAGATCAAGACAAGTG	0.303																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(85-87)ttG>ttC		ATP-binding cassette, sub-family A (ABC1), member 12							64.0	70.0	68.0					2																	215976396		2203	4297	6500	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215976396C>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.87G>C	2.37:g.215976396C>G	ENSP00000272895:p.Leu29Phe					ABCA12_ENST00000412081.1_Missense_Mutation_p.L29F	p.L29F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	2	306	-		Renal(323;0.127)	29					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.87G>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247663	0.59103	.	.	ENSG00000144452	ENST00000272895;ENST00000412081	D;D	0.90261	-2.64;-2.64	5.61	4.72	0.59763	.	0.865020	0.09774	N	0.757544	D	0.86806	0.6021	L	0.48642	1.525	0.37115	D	0.900524	P	0.38250	0.624	B	0.34590	0.186	T	0.82682	-0.0336	10	0.32370	T	0.25	.	11.0819	0.48064	0.0:0.913:0.0:0.087	.	29	Q86UK0	ABCAC_HUMAN	F	29	ENSP00000272895:L29F;ENSP00000400231:L29F	ENSP00000272895:L29F	L	-	3	2	ABCA12	215684641	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.827000	0.27421	1.492000	0.48499	0.655000	0.94253	TTG		0.303	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		35	3	0	0	0	1	0	35	3				
SPTB	6710	broad.mit.edu	37	14	65260017	65260017	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:65260017G>C	ENST00000389721.5	-	13	2396	c.2364C>G	c.(2362-2364)ttC>ttG	p.F788L	SPTB_ENST00000389720.3_Missense_Mutation_p.F788L|SPTB_ENST00000389722.3_Missense_Mutation_p.F788L|SPTB_ENST00000542895.1_Missense_Mutation_p.F788L|SPTB_ENST00000556626.1_Missense_Mutation_p.F788L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	788					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCTCCTCCAGGAAGTCCTTGT	0.632																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2362-2364)ttC>ttG		spectrin, beta, erythrocytic							48.0	56.0	53.0					14																	65260017		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260017G>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2364C>G	14.37:g.65260017G>C	ENSP00000374371:p.Phe788Leu					SPTB_ENST00000389721.5_Missense_Mutation_p.F788L|SPTB_ENST00000556626.1_Missense_Mutation_p.F788L|SPTB_ENST00000542895.1_Missense_Mutation_p.F788L|SPTB_ENST00000389720.3_Missense_Mutation_p.F788L	p.F788L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2417	-		all_lung(585;4.15e-09)	788					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.2364C>G	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	5.286	0.238139	0.10023	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.23	-1.11	0.09840	.	0.060831	0.64402	D	0.000002	T	0.11196	0.0273	N	0.00738	-1.235	0.21020	N	0.999802	B;B	0.06786	0.0;0.001	B;B	0.11329	0.006;0.002	T	0.37820	-0.9689	10	0.13108	T	0.6	.	9.8993	0.41338	0.6069:0.0:0.3931:0.0	.	788;792	P11277;Q59FP5	SPTB1_HUMAN;.	L	792;788;788;788;788;788	ENSP00000374372:F788L;ENSP00000451752:F788L;ENSP00000374371:F788L;ENSP00000443882:F788L;ENSP00000374370:F788L	ENSP00000374370:F788L	F	-	3	2	SPTB	64329770	0.000000	0.05858	0.988000	0.46212	0.986000	0.74619	-1.565000	0.02150	-0.033000	0.13736	0.555000	0.69702	TTC		0.632	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			52	117	0	0	0	1	0	52	117				
CDH7	1005	broad.mit.edu	37	18	63526202	63526202	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:63526202A>T	ENST00000397968.2	+	9	1840	c.1414A>T	c.(1414-1416)Ata>Tta	p.I472L	CDH7_ENST00000323011.3_Missense_Mutation_p.I472L|CDH7_ENST00000536984.2_Missense_Mutation_p.I472L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	472	Cadherin 4. {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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGCCATCACTATACTTGACAT	0.428																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1414-1416)Ata>Tta		cadherin 7, type 2							85.0	79.0	81.0					18																	63526202		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63526202A>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1414A>T	18.37:g.63526202A>T	ENSP00000381058:p.Ile472Leu					CDH7_ENST00000323011.3_Missense_Mutation_p.I472L|CDH7_ENST00000397968.2_Missense_Mutation_p.I472L	p.I472L			Q9ULB5	CADH7_HUMAN			9	2108	+		Esophageal squamous(42;0.129)	472			Cadherin 4.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1414A>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393671	0.62066	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.54866	0.55;0.55;0.55	5.32	5.32	0.75619	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.052193	0.64402	D	0.000001	T	0.44498	0.1296	L	0.35593	1.075	0.48288	D	0.999629	B;B	0.25850	0.016;0.136	B;B	0.27608	0.043;0.081	T	0.33904	-0.9850	10	0.36615	T	0.2	.	15.56	0.76237	1.0:0.0:0.0:0.0	.	472;472	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	472	ENSP00000319166:I472L;ENSP00000443030:I472L;ENSP00000381058:I472L	ENSP00000319166:I472L	I	+	1	0	CDH7	61677182	1.000000	0.71417	0.087000	0.20705	0.880000	0.50808	6.318000	0.72866	2.139000	0.66308	0.383000	0.25322	ATA		0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		17	13	0	0	0	1	0	17	13				
CPN2	1370	broad.mit.edu	37	3	194061797	194061797	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:194061797G>T	ENST00000323830.3	-	2	1724	c.1635C>A	c.(1633-1635)ccC>ccA	p.P545P	CPN2_ENST00000429275.1_Silent_p.P545P	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	545					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCTGCTACTAGGGCCCTGCTG	0.647																																						ENST00000323830.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(1633-1635)ccC>ccA		carboxypeptidase N, polypeptide 2							21.0	22.0	21.0					3																	194061797		2203	4299	6502	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194061797G>T	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1635C>A	3.37:g.194061797G>T						CPN2_ENST00000429275.1_Silent_p.P545P	p.P545P	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1724	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		545					B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.1635C>A	CCDS33920.1																																																																																				0.647	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		5	28	1	0	5.9392e-07	1	6.56245e-07	5	28				
A1BG	1	broad.mit.edu	37	19	58864318	58864318	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:58864318T>A	ENST00000263100.3	-	3	377	c.316A>T	c.(316-318)Aag>Tag	p.K106*	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	106	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TCCAGGAGCTTGCTCAGCTGG	0.637																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(316-318)Aag>Tag		alpha-1-B glycoprotein							57.0	66.0	63.0					19																	58864318		2203	4300	6503	SO:0001587	stop_gained	1					extracellular region		g.chr19:58864318T>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.316A>T	19.37:g.58864318T>A	ENSP00000263100:p.Lys106*					A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	p.K106*	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	377	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	106			Ig-like V-type 1.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Nonsense_Mutation	SNP	ENST00000263100.3	37	c.316A>T	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294540	0.60086	.	.	ENSG00000121410	ENST00000263100	.	.	.	3.52	0.152	0.14893	.	0.466636	0.18175	N	0.149307	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	3.2198	0.06711	0.0:0.2396:0.215:0.5454	.	.	.	.	X	106	.	ENSP00000263100:K106X	K	-	1	0	A1BG	63556130	0.007000	0.16637	0.122000	0.21767	0.342000	0.28953	0.542000	0.23222	-0.057000	0.13199	-0.400000	0.06385	AAG		0.637	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		87	48	0	0	0	1	0	87	48				
GBA3	57733	broad.mit.edu	37	4	22749536	22749536	+	RNA	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr4:22749536G>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGCACTGCTGATTTTTTTGC	0.398																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							53.0	52.0	52.0					4																	22749536		1837	4096	5933			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749536G>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749536G>A						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	377	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.398	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			4	1	0	0	0	1	0	4	1				
GABRG3	2567	broad.mit.edu	37	15	27772766	27772766	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:27772766G>C	ENST00000333743.6	+	8	1307	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	351					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCACGAAGAAGACAACATCGG	0.488																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(1051-1053)aaG>aaC		gamma-aminobutyric acid (GABA) A receptor, gamma 3							55.0	49.0	51.0					15																	27772766		2038	4185	6223	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772766G>C		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1053G>C	15.37:g.27772766G>C	ENSP00000331912:p.Lys351Asn					RP11-100M12.3_ENST00000556642.1_RNA	p.K351N	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1307	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	351					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.1053G>C	CCDS45195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.137|7.137	0.580978|0.580978	0.13686|0.13686	.|.	.|.	ENSG00000182256|ENSG00000182256	ENST00000333743|ENST00000451330	D|.	0.84442|.	-1.85|.	5.46|5.46	2.5|2.5	0.30297|0.30297	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	1.573230|.	0.04382|.	U|.	0.360933|.	T|T	0.56572|0.56572	0.1994|0.1994	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.15052|.	0.012|.	T|T	0.47195|0.47195	-0.9136|-0.9136	10|5	0.72032|.	D|.	0.01|.	.|.	7.4378|7.4378	0.27166|0.27166	0.3485:0.0:0.6515:0.0|0.3485:0.0:0.6515:0.0	.|.	351|.	Q99928|.	GBRG3_HUMAN|.	N|T	351|114	ENSP00000331912:K351N|.	ENSP00000331912:K351N|.	K|R	+|+	3|2	2|0	GABRG3|GABRG3	25446361|25446361	0.998000|0.998000	0.40836|0.40836	0.126000|0.126000	0.21872|0.21872	0.010000|0.010000	0.07245|0.07245	0.416000|0.416000	0.21198|0.21198	0.234000|0.234000	0.21139|0.21139	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.488	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			6	6	0	0	0	1	0	6	6				
MAGEA12	4111	broad.mit.edu	37	X	151896316	151896316	+	IGR	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:151896316G>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTTGACGGGTCCCTGTT	0.537																																						ENST00000361201.4																			0				endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	100130935							g.chrX:151896316G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896316G>A								NR_073432.1						0	414	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.537	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		51	8	0	0	0	1	0	51	8				
SUCO	51430	broad.mit.edu	37	1	172557963	172557963	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:172557963G>C	ENST00000263688.3	+	18	1941	c.1722G>C	c.(1720-1722)gaG>gaC	p.E574D	SUCO_ENST00000610051.1_Missense_Mutation_p.E537D|SUCO_ENST00000608151.1_Missense_Mutation_p.E726D|SUCO_ENST00000367723.4_Missense_Mutation_p.E725D	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	574					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											CTCCAAAAGAGAGTCCCATTG	0.428																																						ENST00000367723.3																			0											c.(2176-2178)gaG>gaC		SUN domain containing ossification factor							60.0	51.0	54.0					1																	172557963		2203	4300	6503	SO:0001583	missense	51430							g.chr1:172557963G>C	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1722G>C	1.37:g.172557963G>C	ENSP00000263688:p.Glu574Asp					SUCO_ENST00000263688.3_Missense_Mutation_p.E574D	p.E726D	NM_016227.2	NP_057311.2					17	2302	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2178G>C	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044050	0.36085	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.44	1.44	0.22558	.	0.147828	0.64402	D	0.000014	T	0.55305	0.1912	L	0.58669	1.825	0.44946	D	0.997961	D;B;B;B	0.58970	0.984;0.146;0.016;0.018	D;B;B;B	0.68192	0.956;0.04;0.012;0.008	T	0.54063	-0.8349	9	0.35671	T	0.21	-13.9057	9.5111	0.39078	0.3731:0.0:0.6269:0.0	.	537;574;726;574	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	D	726;574	.	ENSP00000263688:E574D	E	+	3	2	C1orf9	170824586	0.933000	0.31639	0.998000	0.56505	0.987000	0.75469	-0.197000	0.09518	0.273000	0.22049	0.557000	0.71058	GAG		0.428	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		10	8	0	0	0	1	0	10	8				
PAK7	57144	broad.mit.edu	37	20	9546608	9546608	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:9546608C>G	ENST00000378429.3	-	6	1960	c.1414G>C	c.(1414-1416)Ggg>Cgg	p.G472R	PAK7_ENST00000378423.1_Missense_Mutation_p.G472R|PAK7_ENST00000353224.5_Missense_Mutation_p.G472R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	472	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTTGTTTCCCTGTGTGTTTC	0.502																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1414-1416)Ggg>Cgg		p21 protein (Cdc42/Rac)-activated kinase 7							294.0	266.0	275.0					20																	9546608		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546608C>G	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1414G>C	20.37:g.9546608C>G	ENSP00000367686:p.Gly472Arg					PAK7_ENST00000353224.5_Missense_Mutation_p.G472R|PAK7_ENST00000378423.1_Missense_Mutation_p.G472R	p.G472R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1960	-			472			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1414G>C	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788554	0.90367	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.17054	2.3;2.3;2.3	5.4	5.4	0.78164	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	0.43500	0.1250	M	0.71920	2.185	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.18398	-1.0338	9	.	.	.	.	19.1818	0.93627	0.0:1.0:0.0:0.0	.	472;472	B0AZM9;Q9P286	.;PAK7_HUMAN	R	472;472;472;420	ENSP00000367686:G472R;ENSP00000322957:G472R;ENSP00000367679:G472R	.	G	-	1	0	PAK7	9494608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.512000	0.84698	0.460000	0.39030	GGG		0.502	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			21	87	0	0	0	1	0	21	87				
CD207	50489	broad.mit.edu	37	2	71060790	71060790	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:71060790C>A	ENST00000410009.3	-	3	597	c.552G>T	c.(550-552)ttG>ttT	p.L184F		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	184					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTCGTTTGAGCAACTTGCTCA	0.478																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(550-552)ttG>ttT		CD207 molecule, langerin							71.0	64.0	66.0					2																	71060790		1889	4103	5992	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060790C>A	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.552G>T	2.37:g.71060790C>A	ENSP00000386378:p.Leu184Phe						p.L184F	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			3	597	-			184						Missense_Mutation	SNP	ENST00000410009.3	37	c.552G>T		.	.	.	.	.	.	.	.	.	.	C	1.342	-0.593875	0.03771	.	.	ENSG00000116031	ENST00000410009	T	0.31247	1.5	4.01	-0.5	0.12012	.	1.880630	0.02588	N	0.099592	T	0.24314	0.0589	L	0.57536	1.79	0.09310	N	1	P	0.40931	0.733	B	0.28916	0.096	T	0.25187	-1.0139	10	0.49607	T	0.09	.	3.099	0.06319	0.3509:0.4212:0.0:0.2279	.	184	Q9UJ71	CLC4K_HUMAN	F	184	ENSP00000386378:L184F	ENSP00000386378:L184F	L	-	3	2	CD207	70914298	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.483000	0.06536	-0.090000	0.12462	-0.181000	0.13052	TTG		0.478	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		14	7	1	0	1.3612e-06	1	1.49482e-06	14	7				
SLC30A4	7782	broad.mit.edu	37	15	45778867	45778867	+	Silent	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:45778867A>G	ENST00000261867.4	-	7	1391	c.1077T>C	c.(1075-1077)gaT>gaC	p.D359D	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	359					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGATATTTAAATCTTCGACTG	0.368																																						ENST00000261867.4																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15						c.(1075-1077)gaT>gaC		solute carrier family 30 (zinc transporter), member 4							138.0	147.0	144.0					15																	45778867		2198	4298	6496	SO:0001819	synonymous_variant	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45778867A>G		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.1077T>C	15.37:g.45778867A>G						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	p.D359D	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	7	1391	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	359					Q8TC39	Silent	SNP	ENST00000261867.4	37	c.1077T>C	CCDS10125.1																																																																																				0.368	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			43	70	0	0	0	1	0	43	70				
RBM12B	389677	broad.mit.edu	37	8	94747091	94747091	+	Silent	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:94747091T>C	ENST00000399300.2	-	3	1761	c.1548A>G	c.(1546-1548)ccA>ccG	p.P516P	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.P516P	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	516							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGTATATTGGTGGGTCTTTTG	0.443																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1546-1548)ccA>ccG		RNA binding motif protein 12B							110.0	104.0	106.0					8																	94747091		1846	4099	5945	SO:0001819	synonymous_variant	389677						nucleotide binding|RNA binding	g.chr8:94747091T>C		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1548A>G	8.37:g.94747091T>C						RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.P516P	p.P516P	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1761	-	Breast(36;4.14e-07)		516					A8MYB5	Silent	SNP	ENST00000399300.2	37	c.1548A>G	CCDS43755.1																																																																																				0.443	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		45	62	0	0	0	1	0	45	62				
SPSB1	80176	broad.mit.edu	37	1	9416329	9416329	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:9416329G>A	ENST00000328089.6	+	2	720	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	SPSB1_ENST00000377399.2_Missense_Mutation_p.V127I|SPSB1_ENST00000357898.3_Missense_Mutation_p.V127I	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	127	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCACTCTGTCGGGTACAC	0.652																																						ENST00000328089.6																			0				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.(379-381)Gtc>Atc		splA/ryanodine receptor domain and SOCS box containing 1							41.0	44.0	43.0					1																	9416329		2203	4300	6503	SO:0001583	missense	80176				intracellular signal transduction	cytoplasm		g.chr1:9416329G>A		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.379G>A	1.37:g.9416329G>A	ENSP00000330221:p.Val127Ile					SPSB1_ENST00000377399.2_Missense_Mutation_p.V127I|SPSB1_ENST00000357898.3_Missense_Mutation_p.V127I	p.V127I	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	720	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	127			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	ENST00000328089.6	37	c.379G>A	CCDS102.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692955	0.30052	.	.	ENSG00000171621	ENST00000328089;ENST00000450402;ENST00000357898;ENST00000377399	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	M	0.83012	2.62	0.80722	D	1	B	0.28900	0.227	B	0.34093	0.175	T	0.51028	-0.8757	10	0.22706	T	0.39	-7.2266	17.7769	0.88511	0.0:0.0:1.0:0.0	.	127	Q96BD6	SPSB1_HUMAN	I	127	ENSP00000330221:V127I;ENSP00000409235:V127I;ENSP00000350573:V127I;ENSP00000366616:V127I	ENSP00000330221:V127I	V	+	1	0	SPSB1	9338916	1.000000	0.71417	0.179000	0.23059	0.202000	0.24057	9.733000	0.98818	2.428000	0.82296	0.655000	0.94253	GTC		0.652	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		39	31	0	0	0	1	0	39	31				
LRRC16A	55604	broad.mit.edu	37	6	25515919	25515919	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:25515919C>T	ENST00000329474.6	+	21	2017	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	550					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						CAGTCCTTGTCCCTGGCTGAC	0.542																																						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.(1648-1650)tCc>tTc		leucine rich repeat containing 16A							41.0	44.0	43.0					6																	25515919		2167	4290	6457	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25515919C>T	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.1649C>T	6.37:g.25515919C>T	ENSP00000331983:p.Ser550Phe						p.S550F	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			21	2017	+			550					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1649C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869561	0.91587	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54866	0.55	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.68637	-0.5356	10	0.66056	D	0.02	.	19.5873	0.95495	0.0:1.0:0.0:0.0	.	550;550;550	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	F	550	ENSP00000331983:S550F	ENSP00000331983:S550F	S	+	2	0	LRRC16A	25623898	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.610000	0.88304	0.650000	0.86243	TCC		0.542	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		7	13	0	0	0	1	0	7	13				
TRIM47	91107	broad.mit.edu	37	17	73872555	73872555	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:73872555G>A	ENST00000254816.2	-	3	816	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.R26W	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	264						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCCTCTCCCGCTCTGCTACG	0.652																																						ENST00000254816.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(790-792)Cgg>Tgg		tripartite motif containing 47							15.0	18.0	17.0					17																	73872555		2199	4298	6497	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73872555G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.790C>T	17.37:g.73872555G>A	ENSP00000254816:p.Arg264Trp					RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.R26W	p.R264W	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		3	816	-			264					Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.790C>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630059	0.67015	.	.	ENSG00000132481	ENST00000254816	T	0.47528	0.84	4.98	2.84	0.33178	.	0.139037	0.33217	N	0.005152	T	0.51805	0.1696	L	0.27053	0.805	0.33887	D	0.636852	D	0.89917	1.0	D	0.69654	0.965	T	0.65446	-0.6166	10	0.66056	D	0.02	.	11.9072	0.52719	0.0:0.0:0.5323:0.4677	.	264	Q96LD4	TRI47_HUMAN	W	264	ENSP00000254816:R264W	ENSP00000254816:R264W	R	-	1	2	TRIM47	71384150	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	0.674000	0.25218	1.289000	0.44618	0.561000	0.74099	CGG		0.652	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			8	25	0	0	0	1	0	8	25				
CYP4F12	66002	broad.mit.edu	37	19	15791302	15791302	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:15791302C>A	ENST00000550308.1	+	5	878	c.498C>A	c.(496-498)atC>atA	p.I166I	CYP4F12_ENST00000324632.10_Silent_p.I166I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	166					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ATATAACGATCTTCAACAAGA	0.532																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(496-498)atC>atA		cytochrome P450, family 4, subfamily F, polypeptide 12							51.0	51.0	51.0					19																	15791302		2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15791302C>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.498C>A	19.37:g.15791302C>A						CYP4F12_ENST00000324632.9_Silent_p.I166I	p.I166I	NM_023944.3	NP_076433.3					5	878	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.498C>A	CCDS42517.1																																																																																				0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			38	25	1	0	6.5261e-18	1	7.84008e-18	38	25				
NRG3	10718	broad.mit.edu	37	10	84733553	84733553	+	Missense_Mutation	SNP	G	G	A	rs142991883		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:84733553G>A	ENST00000404547.1	+	7	1294	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	NRG3_ENST00000545131.1_Missense_Mutation_p.V82M|NRG3_ENST00000537893.1_Missense_Mutation_p.V82M|NRG3_ENST00000556918.1_Missense_Mutation_p.V262M|NRG3_ENST00000372141.2_Missense_Mutation_p.V432M|NRG3_ENST00000372142.2_Missense_Mutation_p.V211M|NRG3_ENST00000404576.2_Missense_Mutation_p.V236M			P56975	NRG3_HUMAN	neuregulin 3	432					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTATTCAAAGGTGGAAAGGCA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22217	0.0		0.0	False		,,,				2504	0.0					ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(631-633)Gtg>Atg		neuregulin 3							127.0	113.0	118.0					10																	84733553		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84733553G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1294G>A	10.37:g.84733553G>A	ENSP00000384796:p.Val432Met					NRG3_ENST00000404547.1_Missense_Mutation_p.V432M|NRG3_ENST00000404576.2_Missense_Mutation_p.V236M|NRG3_ENST00000372141.2_Missense_Mutation_p.V432M|NRG3_ENST00000545131.1_Missense_Mutation_p.V82M|NRG3_ENST00000556918.1_Missense_Mutation_p.V262M|NRG3_ENST00000537893.1_Missense_Mutation_p.V82M	p.V211M	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	8	905	+			432			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.631G>A	CCDS31233.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.11	2.437892	0.43326	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54866	1.39;1.46;0.55;0.55;0.55;0.55;0.55	5.95	3.89	0.44902	.	0.596543	0.15802	N	0.243918	T	0.33527	0.0866	N	0.14661	0.345	0.21147	N	0.999777	B;P;B;B	0.48016	0.25;0.904;0.25;0.25	B;B;B;B	0.44163	0.173;0.443;0.24;0.173	T	0.14671	-1.0464	10	0.54805	T	0.06	-33.1932	3.2253	0.06730	0.2324:0.0:0.5603:0.2074	.	431;432;211;432	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	M	432;432;431;211;236;262;82;82	ENSP00000361214:V432M;ENSP00000384796:V432M;ENSP00000361215:V211M;ENSP00000385804:V236M;ENSP00000451376:V262M;ENSP00000441201:V82M;ENSP00000440377:V82M	ENSP00000361214:V432M	V	+	1	0	NRG3	84723533	0.990000	0.36364	1.000000	0.80357	0.992000	0.81027	1.052000	0.30429	1.524000	0.49035	0.650000	0.86243	GTG		0.473	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		16	27	0	0	0	1	0	16	27				
PRAMEF10	343071	broad.mit.edu	37	1	12954486	12954486	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:12954486A>G	ENST00000235347.4	-	3	876	c.797T>C	c.(796-798)cTg>cCg	p.L266P		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	266					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTAGTACAGGCAGAGGAA	0.463																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(796-798)cTg>cCg		PRAME family member 10							151.0	107.0	121.0					1																	12954486		1897	4098	5995	SO:0001583	missense	343071							g.chr1:12954486A>G	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.797T>C	1.37:g.12954486A>G	ENSP00000235347:p.Leu266Pro						p.L266P	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	876	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	266					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.797T>C	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.953340	0.34471	.	.	ENSG00000187545	ENST00000235347	T	0.01388	4.95	1.57	1.57	0.23409	.	0.296717	0.27319	N	0.019913	T	0.07458	0.0188	M	0.89095	3.005	0.20873	N	0.99984	D	0.89917	1.0	D	0.97110	1.0	T	0.04678	-1.0934	10	0.87932	D	0	.	5.2552	0.15544	1.0:0.0:0.0:0.0	.	266	O60809	PRA10_HUMAN	P	266	ENSP00000235347:L266P	ENSP00000235347:L266P	L	-	2	0	PRAMEF10	12877073	0.005000	0.15991	0.003000	0.11579	0.260000	0.26232	1.340000	0.33896	0.969000	0.38237	0.163000	0.16589	CTG		0.463	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		30	99	0	0	0	1	0	30	99				
BSCL2	26580	broad.mit.edu	37	11	62459908	62459908	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:62459908C>G	ENST00000403550.1	-	6	1034	c.611G>C	c.(610-612)aGc>aCc	p.S204T	BSCL2_ENST00000360796.5_Missense_Mutation_p.S268T|BSCL2_ENST00000278893.7_Missense_Mutation_p.S204T|BSCL2_ENST00000537604.1_5'Flank|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000405837.1_Missense_Mutation_p.S268T|BSCL2_ENST00000433053.1_Missense_Mutation_p.S268T|BSCL2_ENST00000407022.3_Missense_Mutation_p.S204T|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Missense_Mutation_p.S204T			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	204					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GATGCGCTTGCTGTGGATCTC	0.622																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(802-804)aGc>aCc		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							105.0	83.0	91.0					11																	62459908		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62459908C>G		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.611G>C	11.37:g.62459908C>G	ENSP00000385561:p.Ser204Thr					BSCL2_ENST00000360796.5_Missense_Mutation_p.S268T|BSCL2_ENST00000278893.7_Missense_Mutation_p.S204T|BSCL2_ENST00000407022.3_Missense_Mutation_p.S204T|BSCL2_ENST00000403550.1_Missense_Mutation_p.S204T|BSCL2_ENST00000421906.1_Missense_Mutation_p.S204T|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.S268T	p.S268T			Q96G97	BSCL2_HUMAN			7	1359	-			204					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.803G>C	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454587	0.63290	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403098;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568	D;D;D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.53	5.53	0.82687	.	0.144797	0.44688	U	0.000428	D	0.88735	0.6517	L	0.53617	1.68	0.48341	D	0.999636	B;B;P;B	0.35050	0.254;0.395;0.482;0.22	B;B;B;B	0.40506	0.118;0.331;0.223;0.181	D	0.87752	0.2592	10	0.44086	T	0.13	2.4265	16.9536	0.86252	0.0:1.0:0.0:0.0	.	204;204;268;204	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	T	268;268;204;268;42;204;204;204;204	ENSP00000385332:S268T;ENSP00000414002:S268T;ENSP00000278893:S204T;ENSP00000354032:S268T;ENSP00000384258:S42T;ENSP00000385561:S204T;ENSP00000384080:S204T;ENSP00000413209:S204T;ENSP00000413340:S204T	ENSP00000278893:S204T	S	-	2	0	BSCL2	62216484	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.247000	0.51422	2.596000	0.87737	0.561000	0.74099	AGC		0.622	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		18	47	0	0	0	1	0	18	47				
MAP3K19	80122	broad.mit.edu	37	2	135738628	135738628	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:135738628T>C	ENST00000375845.3	-	9	3713	c.3683A>G	c.(3682-3684)cAt>cGt	p.H1228R	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.H410R|MAP3K19_ENST00000392917.3_Missense_Mutation_p.H360R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H1115R|MAP3K19_ENST00000315513.3_Missense_Mutation_p.H89R|MAP3K19_ENST00000392918.3_Missense_Mutation_p.H362R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGGAGTCCCATGCATGGACTT	0.478																																						ENST00000375845.3																			0											c.(3682-3684)cAt>cGt		mitogen-activated protein kinase kinase kinase 19							110.0	105.0	107.0					2																	135738628		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135738628T>C	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.3683A>G	2.37:g.135738628T>C	ENSP00000365005:p.His1228Arg					MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.H360R|MAP3K19_ENST00000375844.3_Missense_Mutation_p.H410R|MAP3K19_ENST00000315513.3_Missense_Mutation_p.H89R|MAP3K19_ENST00000392918.3_Missense_Mutation_p.H362R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H1115R	p.H1228R	NM_025052.3	NP_079328.3					9	3713	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3683A>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	10.43	1.349099	0.24426	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.74	4.6	0.57074	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	0.46145	D	0.000319	T	0.31231	0.0790	N	0.01219	-0.95	0.42098	D	0.991329	B;B;B;B;B	0.28880	0.019;0.074;0.226;0.041;0.091	B;B;B;B;B	0.31191	0.018;0.058;0.033;0.033;0.125	T	0.14699	-1.0463	10	0.17832	T	0.49	.	10.2211	0.43198	0.0:0.0785:0.0:0.9215	.	360;1115;362;410;1228	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	R	1228;1115;410;362;360;618;89	ENSP00000365005:H1228R;ENSP00000351140:H1115R;ENSP00000365004:H410R;ENSP00000376650:H362R;ENSP00000376649:H360R;ENSP00000392827:H618R;ENSP00000321160:H89R	ENSP00000321160:H89R	H	-	2	0	YSK4	135455098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.081000	0.71309	1.008000	0.39264	0.533000	0.62120	CAT		0.478	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		46	5	0	0	0	1	0	46	5				
NRF1	4899	broad.mit.edu	37	7	129311379	129311379	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:129311379C>A	ENST00000393232.1	+	3	451	c.334C>A	c.(334-336)Ctt>Att	p.L112I	NRF1_ENST00000353868.4_Missense_Mutation_p.L112I|NRF1_ENST00000393230.2_Missense_Mutation_p.L112I|NRF1_ENST00000223190.4_Missense_Mutation_p.L112I|NRF1_ENST00000539636.1_Intron|NRF1_ENST00000393231.3_Missense_Mutation_p.L112I|NRF1_ENST00000311967.2_Missense_Mutation_p.L112I	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	112					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AACACGTTTGCTTCGGTGAGG	0.448																																						ENST00000393232.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(334-336)Ctt>Att		nuclear respiratory factor 1							99.0	89.0	92.0					7																	129311379		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129311379C>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.334C>A	7.37:g.129311379C>A	ENSP00000376924:p.Leu112Ile					NRF1_ENST00000539636.1_Intron|NRF1_ENST00000393230.2_Missense_Mutation_p.L112I|NRF1_ENST00000353868.4_Missense_Mutation_p.L112I|NRF1_ENST00000311967.2_Missense_Mutation_p.L112I|NRF1_ENST00000223190.4_Missense_Mutation_p.L112I|NRF1_ENST00000393231.3_Missense_Mutation_p.L112I	p.L112I	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			3	451	+			112					A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.334C>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836439	0.91117	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.28	5.28	0.74379	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	L	0.49126	1.545	0.80722	D	1	P;P	0.42337	0.776;0.684	B;B	0.41691	0.364;0.329	T	0.61997	-0.6947	9	0.56958	D	0.05	-13.3419	17.945	0.89036	0.0:1.0:0.0:0.0	.	112;112	Q96AN2;Q16656	.;NRF1_HUMAN	I	112	.	ENSP00000223190:L112I	L	+	1	0	NRF1	129098615	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.450000	0.60041	2.477000	0.83638	0.579000	0.79373	CTT		0.448	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		18	5	1	0	5.3912e-06	1	5.8843e-06	18	5				
MAVS	57506	broad.mit.edu	37	20	3846449	3846449	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:3846449C>A	ENST00000428216.2	+	7	1406	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	MAVS_ENST00000416600.2_Silent_p.S285S|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	426					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTGGCATCCCAGGTAGACA	0.642																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1276-1278)tcC>tcA		mitochondrial antiviral signaling protein							37.0	39.0	38.0					20																	3846449		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3846449C>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1278C>A	20.37:g.3846449C>A						MAVS_ENST00000416600.2_Silent_p.S285S|MAVS_ENST00000358134.6_3'UTR	p.S426S	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			7	1406	+			426					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	c.1278C>A	CCDS33437.1																																																																																				0.642	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		21	30	1	0	1.96292e-10	1	2.25233e-10	21	30				
OR56B4	196335	broad.mit.edu	37	11	6129291	6129291	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:6129291G>T	ENST00000316529.3	+	1	378	c.283G>T	c.(283-285)Gcc>Tcc	p.A95S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGTTTGATGCCAAGGCCAT	0.507																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(283-285)Gcc>Tcc		olfactory receptor, family 56, subfamily B, member 4							107.0	98.0	101.0					11																	6129291		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129291G>T	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.283G>T	11.37:g.6129291G>T	ENSP00000321196:p.Ala95Ser						p.A95S	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	378	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	95					Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.283G>T	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910233	0.17833	.	.	ENSG00000180919	ENST00000316529	T	0.02974	4.09	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.788097	0.10165	N	0.707886	T	0.03739	0.0106	L	0.39514	1.22	0.09310	N	1	B	0.33919	0.432	B	0.34931	0.192	T	0.42032	-0.9475	10	0.20046	T	0.44	.	12.1323	0.53950	0.0:0.1738:0.8262:0.0	.	95	Q8NH76	O56B4_HUMAN	S	95	ENSP00000321196:A95S	ENSP00000321196:A95S	A	+	1	0	OR56B4	6085867	0.000000	0.05858	1.000000	0.80357	0.936000	0.57629	-0.132000	0.10467	2.225000	0.72522	0.556000	0.70494	GCC		0.507	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		51	11	1	0	4.18559e-23	1	5.20292e-23	51	11				
MAP3K1	4214	broad.mit.edu	37	5	56177591	56177591	+	Missense_Mutation	SNP	G	G	A	rs375893442		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:56177591G>A	ENST00000399503.3	+	14	2564	c.2564G>A	c.(2563-2565)cGt>cAt	p.R855H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	855					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATGCGTCGCCGTTTGATGGCT	0.473																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2563-2565)cGt>cAt		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase		G	HIS/ARG	0,3900		0,0,1950	112.0	105.0	107.0		2564	5.6	0.9	5		107	1,8309		0,1,4154	no	missense	MAP3K1	NM_005921.1	29	0,1,6104	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	855/1513	56177591	1,12209	1950	4155	6105	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177591G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2564G>A	5.37:g.56177591G>A	ENSP00000382423:p.Arg855His						p.R855H	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	2564	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	855						Missense_Mutation	SNP	ENST00000399503.3	37	c.2564G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282983	0.80692	0.0	1.2E-4	ENSG00000095015	ENST00000399503	T	0.56941	0.43	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.72261	-0.4345	10	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	855	Q13233	M3K1_HUMAN	H	855	ENSP00000382423:R855H	ENSP00000382423:R855H	R	+	2	0	MAP3K1	56213348	1.000000	0.71417	0.865000	0.33974	0.980000	0.70556	8.102000	0.89548	2.778000	0.95560	0.655000	0.94253	CGT		0.473	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		4	66	0	0	0	1	0	4	66				
NPC1L1	29881	broad.mit.edu	37	7	44578642	44578642	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:44578642G>C	ENST00000289547.4	-	2	1409	c.1354C>G	c.(1354-1356)Cgg>Ggg	p.R452G	NPC1L1_ENST00000546276.1_Missense_Mutation_p.R452G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R452G|NPC1L1_ENST00000423141.1_Missense_Mutation_p.R452G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	452					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGAGGTGCCGCAGCCTCTCC	0.597																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1354-1356)Cgg>Ggg		NPC1-like 1	Ezetimibe(DB00973)						58.0	60.0	59.0					7																	44578642		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578642G>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1354C>G	7.37:g.44578642G>C	ENSP00000289547:p.Arg452Gly					NPC1L1_ENST00000423141.1_Missense_Mutation_p.R452G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R452G|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R452G	p.R452G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	1409	-			452					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1354C>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	13.36	2.215058	0.39102	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	4.62	0.675	0.17952	.	0.150572	0.45126	D	0.000391	D	0.92622	0.7656	M	0.83483	2.645	0.29285	N	0.869787	B;D;P;D	0.65815	0.18;0.995;0.514;0.986	B;D;B;P	0.62955	0.052;0.909;0.379;0.813	D	0.87909	0.2696	10	0.39692	T	0.17	-30.9519	11.5568	0.50752	0.0:0.0:0.5956:0.4044	.	452;452;452;452	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	G	452	ENSP00000289547:R452G;ENSP00000370552:R452G;ENSP00000438033:R452G;ENSP00000404670:R452G	ENSP00000289547:R452G	R	-	1	2	NPC1L1	44545167	0.998000	0.40836	0.989000	0.46669	0.993000	0.82548	2.086000	0.41643	0.202000	0.20498	0.407000	0.27541	CGG		0.597	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		28	18	0	0	0	1	0	28	18				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	284802							g.chr20:29625956G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	73	0	0	0	1	0	4	73				
SHROOM3	57619	broad.mit.edu	37	4	77662323	77662323	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr4:77662323G>A	ENST00000296043.6	+	5	3950	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	999	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCAGGCCCGTGCCCCCTGCCG	0.741																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2995-2997)gtG>gtA		shroom family member 3							4.0	5.0	4.0					4																	77662323		1887	3812	5699	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77662323G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2997G>A	4.37:g.77662323G>A							p.V999V	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3950	+			999			ASD1.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.2997G>A	CCDS3579.2																																																																																				0.741	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		3	1	0	0	0	1	0	3	1				
PDXDC2P	283970	broad.mit.edu	37	16	70020388	70020388	+	RNA	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:70020388G>A	ENST00000531894.1	-	0	2169				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.R49C(2)|p.R34C(1)									TCACGATGACGATGGTCAGCC	0.363																																						ENST00000325845.7																			3	Substitution - Missense(3)	p.R49C(2)|p.R34C(1)	breast(3)	breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(100-102)Cgt>Tgt																																								283970							g.chr16:70020388G>A			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70020388G>A						PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR|RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R49C	p.R34C							21	2169	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.100C>T		.	.	.	.	.	.	.	.	.	.	.	11.62	1.693029	0.30052	.	.	ENSG00000226232	ENST00000532298;ENST00000325845	T;T	0.45276	0.9;0.9	0.904	-0.432	0.12291	.	.	.	.	.	T	0.50599	0.1625	.	.	.	.	.	.	D	0.89917	1.0	D	0.63033	0.91	T	0.53315	-0.8456	7	0.59425	D	0.04	.	2.2566	0.04057	0.4535:0.3108:0.2357:0.0	.	30	A8MZ50	NPIL4_HUMAN	C	49;34	ENSP00000448651:R49C;ENSP00000449128:R34C	ENSP00000449128:R34C	R	-	1	0	RP11-419C5.2	68577889	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.895000	0.04118	-1.045000	0.03250	-2.445000	0.00210	CGT		0.363	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			5	63	0	0	0	1	0	5	63				
OCA2	4948	broad.mit.edu	37	15	28326847	28326847	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:28326847C>A	ENST00000354638.3	-	2	329	c.174G>T	c.(172-174)caG>caT	p.Q58H	OCA2_ENST00000382996.2_Missense_Mutation_p.Q58H|OCA2_ENST00000353809.5_Missense_Mutation_p.Q58H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	58					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.Q58H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCCAAGAGCTCTGCCCGGCAG	0.597									Oculocutaneous Albinism																													ENST00000354638.3																			1	Substitution - Missense(1)	p.Q58H(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(172-174)caG>caT		oculocutaneous albinism II							39.0	37.0	38.0					15																	28326847		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28326847C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.174G>T	15.37:g.28326847C>A	ENSP00000346659:p.Gln58His					OCA2_ENST00000382996.2_Missense_Mutation_p.Q58H|OCA2_ENST00000353809.5_Missense_Mutation_p.Q58H	p.Q58H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	2	329	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	58					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.174G>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	9.924	1.213020	0.22289	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	D;D;D;D;D	0.93426	-2.71;-2.72;-2.67;-3.22;-2.07	3.08	2.15	0.27550	.	0.660673	0.13252	N	0.401979	D	0.87297	0.6142	L	0.40543	1.245	0.09310	N	1	P;B	0.45348	0.856;0.291	B;B	0.38056	0.264;0.087	T	0.79692	-0.1697	10	0.56958	D	0.05	6.0E-4	6.1849	0.20491	0.0:0.8607:0.0:0.1393	.	58;58	Q04671-2;Q04671	.;P_HUMAN	H	58	ENSP00000346659:Q58H;ENSP00000261276:Q58H;ENSP00000372457:Q58H;ENSP00000414425:Q58H;ENSP00000415431:Q58H	ENSP00000261276:Q58H	Q	-	3	2	OCA2	26000442	0.003000	0.15002	0.003000	0.11579	0.028000	0.11728	0.226000	0.17776	0.878000	0.35920	0.543000	0.68304	CAG		0.597	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		10	20	1	0	1.08611e-07	1	1.20754e-07	10	20				
OR2B6	26212	broad.mit.edu	37	6	27925464	27925464	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:27925464G>C	ENST00000244623.1	+	1	446	c.446G>C	c.(445-447)tGg>tCg	p.W149S		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGCATCCTGGGTTACTGGT	0.493																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(445-447)tGg>tCg		olfactory receptor, family 2, subfamily B, member 6							104.0	106.0	106.0					6																	27925464		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925464G>C	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.446G>C	6.37:g.27925464G>C	ENSP00000244623:p.Trp149Ser						p.W149S	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	446	+			149					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.446G>C	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	16.18	3.050123	0.55218	.	.	ENSG00000124657	ENST00000244623	T	0.59502	0.26	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32719	U	0.005732	T	0.80003	0.4544	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86513	0.1811	10	0.87932	D	0	.	13.3655	0.60680	0.0:0.0:1.0:0.0	.	149	P58173	OR2B6_HUMAN	S	149	ENSP00000244623:W149S	ENSP00000244623:W149S	W	+	2	0	OR2B6	28033443	1.000000	0.71417	0.267000	0.24556	0.731000	0.41821	1.770000	0.38532	1.875000	0.54330	0.563000	0.77884	TGG		0.493	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			47	88	0	0	0	1	0	47	88				
NPSR1	387129	broad.mit.edu	37	7	34851447	34851447	+	Silent	SNP	C	C	T	rs116733850	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:34851447C>T	ENST00000360581.1	+	4	578	c.450C>T	c.(448-450)atC>atT	p.I150I	NPSR1_ENST00000359791.1_Silent_p.I150I|NPSR1_ENST00000531252.1_Silent_p.I139I|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Silent_p.I150I	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	150						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCATGCCATCGTCTACCCCA	0.468													C|||	9	0.00179712	0.0068	0.0	5008	,	,		20507	0.0		0.0	False		,,,				2504	0.0					ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(448-450)atC>atT		neuropeptide S receptor 1	Halothane(DB01159)	C	,	9,4397	15.5+/-35.6	0,9,2194	230.0	182.0	199.0		450,450	-0.6	1.0	7	dbSNP_132	199	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NPSR1	NM_207172.1,NM_207173.1	,	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	,	150/372,150/378	34851447	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34851447C>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.450C>T	7.37:g.34851447C>T						NPSR1_ENST00000359791.1_Silent_p.I150I|NPSR1_ENST00000381539.3_Silent_p.I150I|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Silent_p.I139I	p.I150I	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			4	578	+			150					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	c.450C>T	CCDS5444.1																																																																																				0.468	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		49	91	0	0	0	1	0	49	91				
AK3	50808	broad.mit.edu	37	9	4718523	4718523	+	Silent	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:4718523C>G	ENST00000381809.3	-	4	689	c.459G>C	c.(457-459)ctG>ctC	p.L153L	AK3_ENST00000359883.2_Silent_p.L83L|AK3_ENST00000447596.4_Silent_p.L113L	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	151	LID.				ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	GCTCCCCAGTCAGGTCATCAA	0.378																																						ENST00000381809.3																			0				large_intestine(2)|lung(1)|ovary(2)	5						c.(457-459)ctG>ctC		adenylate kinase 3							88.0	80.0	83.0					9																	4718523		2203	4300	6503	SO:0001819	synonymous_variant	50808				blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity	g.chr9:4718523C>G	BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"""adenylate kinase 6"", ""adenylate kinase 3 like 1"""	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.459G>C	9.37:g.4718523C>G						AK3_ENST00000359883.2_Silent_p.L83L|AK3_ENST00000447596.4_Silent_p.L113L	p.L153L	NM_016282.3	NP_057366.2	Q9UIJ7	KAD3_HUMAN		GBM - Glioblastoma multiforme(50;0.0302)	4	689	-	all_hematologic(13;0.137)	Breast(48;0.238)	153					B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Silent	SNP	ENST00000381809.3	37	c.459G>C	CCDS6455.1																																																																																				0.378	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	NM_016282		21	6	0	0	0	1	0	21	6				
TNNT2	7139	broad.mit.edu	37	1	201334340	201334340	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:201334340G>A	ENST00000509001.1	-	9	646	c.360C>T	c.(358-360)ctC>ctT	p.L120L	TNNT2_ENST00000421663.2_Silent_p.L122L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000236918.7_Silent_p.L125L|TNNT2_ENST00000367317.4_Silent_p.L120L|TNNT2_ENST00000367322.1_Silent_p.L120L|TNNT2_ENST00000367315.2_Silent_p.L120L|TNNT2_ENST00000458432.2_Silent_p.L132L|TNNT2_ENST00000360372.4_Silent_p.L115L|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367318.5_Silent_p.L120L	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	130			F -> I (in CMH2). {ECO:0000269|PubMed:7898523, ECO:0000269|PubMed:9482583}.|F -> V (in CMH2). {ECO:0000269|PubMed:12707239}.		ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TGAGAGAAACGAGCTCCTCCT	0.547																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(358-360)ctC>ctT		troponin T type 2 (cardiac)							210.0	180.0	190.0					1																	201334340		2203	4300	6503	SO:0001819	synonymous_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201334340G>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.360C>T	1.37:g.201334340G>A						TNNT2_ENST00000367315.2_Silent_p.L120L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367322.1_Silent_p.L120L|TNNT2_ENST00000367317.4_Silent_p.L120L|TNNT2_ENST00000421663.2_Silent_p.L122L|TNNT2_ENST00000458432.2_Silent_p.L132L|TNNT2_ENST00000236918.7_Silent_p.L125L|TNNT2_ENST00000360372.4_Silent_p.L115L|TNNT2_ENST00000367318.5_Silent_p.L120L	p.L120L	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			9	646	-			130		F -> I (in CMH2).|F -> V (in CMH2).			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Silent	SNP	ENST00000509001.1	37	c.360C>T	CCDS30969.1																																																																																				0.547	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		26	139	0	0	0	1	0	26	139				
CX3CL1	6376	broad.mit.edu	37	16	57416310	57416310	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:57416310G>C	ENST00000006053.6	+	3	671	c.560G>C	c.(559-561)cGa>cCa	p.R187P	CX3CL1_ENST00000565912.1_Missense_Mutation_p.R149P|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.R193P	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	187	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGCTTTTCCGAGTGCCTCCC	0.682																																						ENST00000565912.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(445-447)cGa>cCa		chemokine (C-X3-C motif) ligand 1							39.0	38.0	38.0					16																	57416310		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416310G>C	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.560G>C	16.37:g.57416310G>C	ENSP00000006053:p.Arg187Pro					CX3CL1_ENST00000006053.6_Missense_Mutation_p.R187P|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.R193P	p.R149P			P78423	X3CL1_HUMAN			2	3152	+			187			Mucin-like stalk.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.446G>C	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	9.393	1.075980	0.20227	.	.	ENSG00000006210	ENST00000006053	T	0.04406	3.63	4.96	-9.92	0.00455	.	27.733900	0.00166	N	0.000000	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B	0.26744	0.158	B	0.27076	0.076	T	0.31336	-0.9947	10	0.87932	D	0	-14.0612	6.6014	0.22703	0.1691:0.215:0.518:0.0979	.	187	P78423	X3CL1_HUMAN	P	187	ENSP00000006053:R187P	ENSP00000006053:R187P	R	+	2	0	CX3CL1	55973811	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.186000	0.01251	-2.482000	0.00522	-0.928000	0.02712	CGA		0.682	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		21	65	0	0	0	1	0	21	65				
EYA1	2138	broad.mit.edu	37	8	72267113	72267113	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:72267113G>T	ENST00000340726.3	-	3	667	c.28C>A	c.(28-30)Cat>Aat	p.H10N	EYA1_ENST00000388743.2_Missense_Mutation_p.H10N|EYA1_ENST00000419131.1_Missense_Mutation_p.H10N|EYA1_ENST00000388742.4_Missense_Mutation_p.H10N|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000303824.7_Missense_Mutation_p.H10N|EYA1_ENST00000388740.3_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	10					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGACGGCTATGCGGGCTGGTT	0.453																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(28-30)Cat>Aat		eyes absent homolog 1 (Drosophila)							171.0	168.0	169.0					8																	72267113		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72267113G>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.28C>A	8.37:g.72267113G>T	ENSP00000342626:p.His10Asn					EYA1_ENST00000303824.7_Missense_Mutation_p.H10N|EYA1_ENST00000419131.1_Missense_Mutation_p.H10N|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.H10N|EYA1_ENST00000388743.2_Missense_Mutation_p.H10N|EYA1_ENST00000388741.2_Intron	p.H10N	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		3	667	-	Breast(64;0.046)		10					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.28C>A	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352486	0.61293	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000303824;ENST00000388743;ENST00000419131	D;D;D;D;D	0.94376	-3.3;-3.3;-3.36;-3.3;-3.41	5.69	3.87	0.44632	.	0.098404	0.64402	D	0.000001	D	0.92195	0.7525	L	0.43152	1.355	0.80722	D	1	B;B;P	0.44429	0.368;0.368;0.835	B;B;P	0.50708	0.287;0.287;0.648	D	0.89334	0.3649	10	0.33940	T	0.23	-16.7613	11.5125	0.50502	0.0677:0.1254:0.8068:0.0	.	10;10;10	A6NCB9;Q99502;G5E9R4	.;EYA1_HUMAN;.	N	10	ENSP00000373394:H10N;ENSP00000342626:H10N;ENSP00000303221:H10N;ENSP00000373395:H10N;ENSP00000410176:H10N	ENSP00000303221:H10N	H	-	1	0	EYA1	72429667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.773000	0.75006	0.734000	0.32515	-0.143000	0.13931	CAT		0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		55	87	1	0	3.21867e-24	1	4.02897e-24	55	87				
PLEKHG1	57480	broad.mit.edu	37	6	151152226	151152226	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:151152226T>A	ENST00000358517.2	+	15	2190	c.1979T>A	c.(1978-1980)gTc>gAc	p.V660D	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.V660D			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	660							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATAGACCATGTCTATGATAAC	0.473																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1978-1980)gTc>gAc		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							47.0	45.0	46.0					6																	151152226		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152226T>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1979T>A	6.37:g.151152226T>A	ENSP00000351318:p.Val660Asp					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.V660D	p.V660D	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2291	+			660					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1979T>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.265319	0.80358	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.72942	-0.7;-0.7	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.83196	-0.0081	10	0.87932	D	0	.	15.3102	0.74026	0.0:0.0:0.0:1.0	.	467;660;660	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	D	660	ENSP00000356297:V660D;ENSP00000351318:V660D	ENSP00000351318:V660D	V	+	2	0	PLEKHG1	151193919	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.698000	0.84413	2.024000	0.59613	0.454000	0.30748	GTC		0.473	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			18	18	0	0	0	1	0	18	18				
BTLA	151888	broad.mit.edu	37	3	112198587	112198587	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:112198587T>C	ENST00000334529.5	-	2	320	c.118A>G	c.(118-120)Ata>Gta	p.I40V	BTLA_ENST00000383680.4_Missense_Mutation_p.I40V	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	40	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGTCTCTTTATATAAAGCTGT	0.358																																						ENST00000334529.5																			0				breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(118-120)Ata>Gta		B and T lymphocyte associated							69.0	67.0	68.0					3																	112198587		2203	4300	6503	SO:0001583	missense	151888				T cell costimulation		receptor activity	g.chr3:112198587T>C	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.118A>G	3.37:g.112198587T>C	ENSP00000333919:p.Ile40Val					BTLA_ENST00000383680.4_Missense_Mutation_p.I40V	p.I40V	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN			2	320	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	40					Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	ENST00000334529.5	37	c.118A>G	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	T	4.068	0.010347	0.07912	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.34072	1.9;1.38	3.42	-5.11	0.02901	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.298874	0.23220	N	0.050567	T	0.20007	0.0481	L	0.34521	1.04	0.09310	N	1	B;B	0.22414	0.003;0.069	B;B	0.23716	0.006;0.048	T	0.36601	-0.9741	10	0.08179	T	0.78	-4.6055	12.3859	0.55333	0.0:0.7456:0.0:0.2544	.	40;40	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	V	40	ENSP00000333919:I40V;ENSP00000373178:I40V	ENSP00000333919:I40V	I	-	1	0	BTLA	113681277	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.218000	0.02976	-1.164000	0.02790	-0.250000	0.11733	ATA		0.358	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		24	22	0	0	0	1	0	24	22				
YAP1	10413	broad.mit.edu	37	11	101981896	101981896	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:101981896G>A	ENST00000282441.5	+	1	705	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	YAP1_ENST00000524575.1_5'Flank|YAP1_ENST00000531439.1_Missense_Mutation_p.R106Q|YAP1_ENST00000526343.1_Missense_Mutation_p.R106Q|YAP1_ENST00000345877.2_Missense_Mutation_p.R106Q|YAP1_ENST00000537274.1_Missense_Mutation_p.R106Q|RP11-732A21.2_ENST00000566440.1_RNA	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	106					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCCCACTCCCGACAGGTAACC	0.701																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(316-318)cGa>cAa		Yes-associated protein 1							23.0	28.0	26.0					11																	101981896		2180	4268	6448	SO:0001583	missense	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:101981896G>A		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.317G>A	11.37:g.101981896G>A	ENSP00000282441:p.Arg106Gln					YAP1_ENST00000531439.1_Missense_Mutation_p.R106Q|YAP1_ENST00000526343.1_Missense_Mutation_p.R106Q|YAP1_ENST00000537274.1_Missense_Mutation_p.R106Q|YAP1_ENST00000345877.2_Missense_Mutation_p.R106Q	p.R106Q	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	1	705	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	106					B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	c.317G>A	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942846	0.53079	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439	T;T	0.50813	0.73;0.74	2.53	2.53	0.30540	.	0.159451	0.41294	U	0.000908	T	0.47838	0.1467	M	0.74467	2.265	0.80722	D	1	B;P;B;B	0.40083	0.188;0.702;0.033;0.196	B;B;B;B	0.40864	0.014;0.342;0.003;0.011	T	0.49881	-0.8892	10	0.23302	T	0.38	.	13.0242	0.58806	0.0:0.0:1.0:0.0	.	106;106;106;106	E9PRV2;P46937-2;P46937;P46937-3	.;.;YAP1_HUMAN;.	Q	106;106;106;106;21;106	ENSP00000434134:R106Q;ENSP00000331023:R106Q	ENSP00000282441:R106Q	R	+	2	0	YAP1	101487106	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	7.793000	0.85851	1.410000	0.46936	0.289000	0.19496	CGA		0.701	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		21	87	0	0	0	1	0	21	87				
SYT6	148281	broad.mit.edu	37	1	114640424	114640424	+	Silent	SNP	G	G	A	rs556527664	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:114640424G>A	ENST00000610222.1	-	6	1586	c.1440C>T	c.(1438-1440)aaC>aaT	p.N480N	SYT6_ENST00000393296.1_Silent_p.N480N|SYT6_ENST00000607941.1_Silent_p.N395N|SYT6_ENST00000609117.1_Silent_p.N395N|SYT6_ENST00000369547.1_Silent_p.N395N			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	480					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.N395K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGCATCTCGTTCCAGTGGT	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		19822	0.0		0.0	False		,,,				2504	0.002					ENST00000393296.1																			1	Substitution - Missense(1)	p.N395K(1)	lung(1)	central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1438-1440)aaC>aaT		synaptotagmin VI							129.0	114.0	119.0					1																	114640424		2203	4300	6503	SO:0001819	synonymous_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114640424G>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1440C>T	1.37:g.114640424G>A						SYT6_ENST00000369547.1_Silent_p.N395N	p.N480N			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1517	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	480					B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37	c.1440C>T																																																																																					0.572	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		51	42	0	0	0	1	0	51	42				
GPHB5	122876	broad.mit.edu	37	14	63784523	63784523	+	RNA	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:63784523A>T	ENST00000539258.1	-	0	97							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.L14P(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AGCCAGAAGGAGGAGGGCCAT	0.577																																						ENST00000539258.1																			1	Substitution - Missense(1)	p.L14P(1)	ovary(1)	breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7								glycoprotein hormone beta 5							42.0	46.0	45.0					14																	63784523		2032	4172	6204			122876					extracellular region	hormone activity	g.chr14:63784523A>T	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784523A>T										Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	0	97	-								Q6NTD0|Q8NFW2	RNA	SNP	ENST00000539258.1	37																																																																																						0.577	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		30	55	0	0	0	1	0	30	55				
DEF8	54849	broad.mit.edu	37	16	90032319	90032319	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:90032319G>A	ENST00000268676.7	+	13	1576	c.1487G>A	c.(1486-1488)aGc>aAc	p.S496N	DEF8_ENST00000567874.1_Missense_Mutation_p.S375N|DEF8_ENST00000563594.1_Missense_Mutation_p.S435N|DEF8_ENST00000569453.1_Missense_Mutation_p.S435N|DEF8_ENST00000570182.1_Missense_Mutation_p.S425N|DEF8_ENST00000563795.1_Missense_Mutation_p.S418N	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	496					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GCCCGGCTCAGCCTGAGGAAG	0.652																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(1303-1305)aGc>aAc		differentially expressed in FDCP 8 homolog (mouse)							49.0	42.0	45.0					16																	90032319		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90032319G>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.1487G>A	16.37:g.90032319G>A	ENSP00000268676:p.Ser496Asn					DEF8_ENST00000563795.1_Missense_Mutation_p.S418N|DEF8_ENST00000268676.7_Missense_Mutation_p.S496N|DEF8_ENST00000570182.1_Missense_Mutation_p.S425N|DEF8_ENST00000569453.1_Missense_Mutation_p.S435N|DEF8_ENST00000567874.1_Missense_Mutation_p.S375N	p.S435N	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	13	2301	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	496					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.1304G>A	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761862	0.31228	.	.	ENSG00000140995	ENST00000268676	T	0.43294	0.95	4.44	-5.42	0.02640	.	0.561128	0.16828	N	0.197854	T	0.16300	0.0392	N	0.13235	0.315	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.0;0.0;0.0;0.002	T	0.09122	-1.0689	10	0.26408	T	0.33	-11.7084	3.338	0.07108	0.4491:0.2859:0.1812:0.0838	.	435;375;425;496	Q6ZN54-5;Q6ZN54-4;Q6ZN54-3;Q6ZN54	.;.;.;DEFI8_HUMAN	N	496	ENSP00000268676:S496N	ENSP00000268676:S496N	S	+	2	0	DEF8	88559820	0.007000	0.16637	0.050000	0.19076	0.977000	0.68977	-0.058000	0.11750	-0.628000	0.05582	0.561000	0.74099	AGC		0.652	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		15	26	0	0	0	1	0	15	26				
FAM76B	143684	broad.mit.edu	37	11	95521688	95521688	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:95521688A>T	ENST00000358780.5	-	2	439	c.127T>A	c.(127-129)Tgc>Agc	p.C43S	FAM76B_ENST00000538047.1_5'UTR|CEP57_ENST00000537677.1_5'Flank|FAM76B_ENST00000536839.1_Missense_Mutation_p.C43S|CEP57_ENST00000538658.1_5'Flank|CEP57_ENST00000325486.5_5'Flank|CEP57_ENST00000325542.5_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	43						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTGATCTGCAGTAAGTACAT	0.353																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(127-129)Tgc>Agc		family with sequence similarity 76, member B							95.0	92.0	93.0					11																	95521688		1830	4089	5919	SO:0001583	missense	143684							g.chr11:95521688A>T		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.127T>A	11.37:g.95521688A>T	ENSP00000351631:p.Cys43Ser					FAM76B_ENST00000538047.1_5'UTR|FAM76B_ENST00000536839.1_Missense_Mutation_p.C43S	p.C43S	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			2	439	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	43					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.127T>A	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068859	0.76301	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.29	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80200	-0.1481	9	0.87932	D	0	-1.3541	10.8412	0.46718	0.9259:0.0:0.074:0.0	.	43	Q5HYJ3	FA76B_HUMAN	S	43	.	ENSP00000351631:C43S	C	-	1	0	FAM76B	95161336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.885000	0.92439	0.853000	0.35312	0.459000	0.35465	TGC		0.353	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		17	56	0	0	0	1	0	17	56				
GHR	2690	broad.mit.edu	37	5	42718763	42718763	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:42718763G>A	ENST00000230882.4	+	10	1344	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	GHR_ENST00000357703.3_Missense_Mutation_p.G363E|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.G198E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	385					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGCGACTCTGGACGTACCAGC	0.468																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1153-1155)gGa>gAa		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						154.0	119.0	131.0					5																	42718763		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718763G>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1154G>A	5.37:g.42718763G>A	ENSP00000230882:p.Gly385Glu					GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.G198E|GHR_ENST00000357703.3_Missense_Mutation_p.G363E	p.G385E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			10	1344	+		Myeloproliferative disorder(839;0.00878)	385					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1154G>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159005	0.78226	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.77098	-1.07;-1.07;-1.07	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92811	0.7714	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94427	0.7646	10	0.87932	D	0	-16.2982	20.1882	0.98224	0.0:0.0:1.0:0.0	.	385	P10912	GHR_HUMAN	E	385;363;198	ENSP00000230882:G385E;ENSP00000350335:G363E;ENSP00000442206:G198E	ENSP00000230882:G385E	G	+	2	0	GHR	42754520	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.436000	0.90300	2.783000	0.95769	0.591000	0.81541	GGA		0.468	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		24	61	0	0	0	1	0	24	61				
ANKRD11	29123	broad.mit.edu	37	16	89349566	89349566	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:89349566G>A	ENST00000301030.4	-	9	3844	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D	ANKRD11_ENST00000378330.2_Silent_p.D1128D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1128	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCATGCAGCTGTCTCTGTCGT	0.542																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3382-3384)gaC>gaT		ankyrin repeat domain 11							150.0	136.0	141.0					16																	89349566		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89349566G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3384C>T	16.37:g.89349566G>A						ANKRD11_ENST00000378330.2_Silent_p.D1128D	p.D1128D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3844	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1128			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.3384C>T	CCDS32513.1																																																																																				0.542	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		124	48	0	0	0	1	0	124	48				
ATRNL1	26033	broad.mit.edu	37	10	117486782	117486782	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:117486782A>T	ENST00000355044.3	+	27	3946	c.3820A>T	c.(3820-3822)Atg>Ttg	p.M1274L	ATRNL1_ENST00000423111.2_Missense_Mutation_p.M325L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.M67L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1274					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACGACAGCAGATGGCCAGCCG	0.458																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3820-3822)Atg>Ttg		attractin-like 1							54.0	51.0	52.0					10																	117486782		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117486782A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3820A>T	10.37:g.117486782A>T	ENSP00000347152:p.Met1274Leu					ATRNL1_ENST00000423111.2_Missense_Mutation_p.M325L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.M67L	p.M1274L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	27	3946	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1274					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3820A>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967321	0.53507	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.44083	0.93;0.93;0.93	5.77	5.77	0.91146	.	0.040812	0.85682	D	0.000000	T	0.50650	0.1628	L	0.55481	1.735	0.42107	D	0.991366	B;B	0.27068	0.116;0.167	B;B	0.41332	0.017;0.354	T	0.51841	-0.8654	10	0.52906	T	0.07	-16.1105	16.0836	0.81023	1.0:0.0:0.0:0.0	.	325;1274	B4DH41;Q5VV63	.;ATRN1_HUMAN	L	1274;325;67	ENSP00000347152:M1274L;ENSP00000409624:M325L;ENSP00000307660:M67L	ENSP00000307660:M67L	M	+	1	0	ATRNL1	117476772	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.254000	0.89844	2.196000	0.70406	0.528000	0.53228	ATG		0.458	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		11	19	0	0	0	1	0	11	19				
SLC2A11	66035	broad.mit.edu	37	22	24224735	24224735	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:24224735C>T	ENST00000345044.6	+	7	1043	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	SLC2A11_ENST00000316185.8_Missense_Mutation_p.R262W|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000398356.2_Missense_Mutation_p.R266W|RN7SL268P_ENST00000491172.2_RNA|SLC2A11_ENST00000467660.1_3'UTR			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	259					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGCCGTGCCCGGCGCCCATG	0.697																																						ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(775-777)Cgg>Tgg		solute carrier family 2 (facilitated glucose transporter), member 11							13.0	14.0	13.0					22																	24224735		2199	4290	6489	SO:0001583	missense	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24224735C>T	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.775C>T	22.37:g.24224735C>T	ENSP00000342542:p.Arg259Trp					SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Missense_Mutation_p.R266W|SLC2A11_ENST00000316185.8_Missense_Mutation_p.R262W|AP000350.10_ENST00000433835.3_Intron	p.R259W			Q9BYW1	GTR11_HUMAN			7	1043	+			259					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	c.775C>T	CCDS46673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.42|10.42	1.346290|1.346290	0.24426|0.24426	.|.	.|.	ENSG00000133460|ENSG00000133460	ENST00000398363|ENST00000345044;ENST00000398356;ENST00000398359;ENST00000407566;ENST00000316185	.|T;T;T	.|0.59906	.|0.23;0.23;0.23	3.2|3.2	-3.34|-3.34	0.04943|0.04943	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.968367	.|0.08536	.|N	.|0.931256	.|T	.|0.34716	.|0.0907	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.25850	.|0.068;0.036;0.01;0.045;0.136	.|B;B;B;B;B	.|0.21546	.|0.014;0.021;0.035;0.022;0.035	.|T	.|0.17137	.|-1.0379	.|9	.|.	.|.	.|.	.|.	3.2692|3.2692	0.06875|0.06875	0.4533:0.2439:0.0:0.3029|0.4533:0.2439:0.0:0.3029	.|.	.|266;262;259;266;266	.|E7ENI4;Q9BYW1-3;Q9BYW1;E9PH55;Q6P4C1	.|.;.;GTR11_HUMAN;.;.	.|W	-1|259;266;266;266;262	.|ENSP00000342542:R259W;ENSP00000381399:R266W;ENSP00000326748:R262W	.|.	.|R	+|+	.|1	.|2	SLC2A11|SLC2A11	22554735|22554735	0.193000|0.193000	0.23313|0.23313	0.001000|0.001000	0.08648|0.08648	0.011000|0.011000	0.07611|0.07611	1.389000|1.389000	0.34453|0.34453	-0.525000|-0.525000	0.06391|0.06391	-0.935000|-0.935000	0.02700|0.02700	.|CGG		0.697	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		11	17	0	0	0	1	0	11	17				
PRR19	284338	broad.mit.edu	37	19	42814891	42814891	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:42814891G>A	ENST00000499536.2	+	2	1881	c.1070G>A	c.(1069-1071)tGa>tAa	p.*357*	PRR19_ENST00000341747.3_Silent_p.*357*|TMEM145_ENST00000301204.3_5'Flank|TMEM145_ENST00000598766.1_5'Flank|PRR19_ENST00000598490.1_3'UTR			A6NJB7	PRR19_HUMAN	proline rich 19	0										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				AGACTGTACTGAGGAGAGGCT	0.552																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1069-1071)tGa>tAa		proline rich 19							30.0	32.0	32.0					19																	42814891		2203	4300	6503	SO:0001819	synonymous_variant	284338							g.chr19:42814891G>A	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.1070G>A	19.37:g.42814891G>A						PRR19_ENST00000341747.3_Silent_p.*357*|PRR19_ENST00000598490.1_3'UTR	p.*357*			A6NJB7	PRR19_HUMAN			2	1881	+		Prostate(69;0.00682)	0					A8K663|B3KW48|Q6P584	Silent	SNP	ENST00000499536.2	37	c.1070G>A	CCDS33036.1																																																																																				0.552	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		15	45	0	0	0	1	0	15	45				
ZNF671	79891	broad.mit.edu	37	19	58238811	58238811	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:58238811G>A	ENST00000317398.6	-	1	181	c.86C>T	c.(85-87)cCg>cTg	p.P29L	ZNF671_ENST00000596939.1_Missense_Mutation_p.P29L|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACAGCTGCCGGGAGCGGCAG	0.687																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(85-87)cCg>cTg		zinc finger protein 671							26.0	30.0	28.0					19																	58238811		2201	4295	6496	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58238811G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.86C>T	19.37:g.58238811G>A	ENSP00000321848:p.Pro29Leu					AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.P29L|ZNF671_ENST00000594803.1_5'UTR	p.P29L	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	1	181	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	29					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.86C>T	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815768	0.50527	.	.	ENSG00000083814	ENST00000317398	T	0.05319	3.46	1.62	-2.35	0.06684	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.20196	N	0.999921	B	0.33379	0.41	B	0.15484	0.013	T	0.40646	-0.9552	9	0.44086	T	0.13	.	0.6116	0.00762	0.1775:0.2382:0.3431:0.2411	.	29	Q8TAW3	ZN671_HUMAN	L	29	ENSP00000321848:P29L	ENSP00000321848:P29L	P	-	2	0	ZNF671	62930623	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.344000	0.19962	-0.559000	0.06110	0.467000	0.42956	CCG		0.687	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		8	21	0	0	0	1	0	8	21				
RET	5979	broad.mit.edu	37	10	43596020	43596020	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:43596020G>A	ENST00000355710.3	+	2	419	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	RET_ENST00000340058.5_Missense_Mutation_p.V63M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	63					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCTGAGGAGGTGCCCAGCTT	0.627		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(187-189)Gtg>Atg		ret proto-oncogene	Sunitinib(DB01268)						70.0	61.0	64.0					10																	43596020		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43596020G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.187G>A	10.37:g.43596020G>A	ENSP00000347942:p.Val63Met					RET_ENST00000340058.5_Missense_Mutation_p.V63M	p.V63M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			2	419	+		Ovarian(717;0.0423)	63					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.187G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238329	0.39598	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79940	-1.2;-1.32	5.51	3.59	0.41128	.	0.429968	0.24109	N	0.041471	T	0.71576	0.3356	M	0.62723	1.935	0.23953	N	0.996363	B;P	0.37997	0.331;0.614	B;B	0.29267	0.046;0.1	T	0.64360	-0.6426	10	0.51188	T	0.08	.	6.745	0.23456	0.1436:0.2861:0.5702:0.0	.	63;63	P07949;P07949-2	RET_HUMAN;.	M	63	ENSP00000347942:V63M;ENSP00000344798:V63M	ENSP00000344798:V63M	V	+	1	0	RET	42916026	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	1.380000	0.34351	0.655000	0.30866	0.655000	0.94253	GTG		0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		7	26	0	0	0	1	0	7	26				
ABCB6	10058	broad.mit.edu	37	2	220082999	220082999	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:220082999G>T	ENST00000265316.3	-	1	713	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	ABCB6_ENST00000439002.2_Silent_p.R133R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	133					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACGCTGCCGTGCCTGGCTC	0.642																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(397-399)Cgg>Agg		ATP-binding cassette, sub-family B (MDR/TAP), member 6							79.0	84.0	82.0					2																	220082999		2203	4299	6502	SO:0001819	synonymous_variant	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220082999G>T	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.397C>A	2.37:g.220082999G>T						ABCB6_ENST00000439002.2_Silent_p.R133R	p.R133R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	713	-		Renal(207;0.0474)	133					O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	c.397C>A	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372112	0.24857	.	.	ENSG00000115657	ENST00000295750;ENST00000427013	.	.	.	4.48	3.56	0.40772	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52711	-0.8539	4	.	.	.	-5.9431	7.1245	0.25463	0.0931:0.0:0.7396:0.1673	.	.	.	.	Q	26;110	.	.	H	-	3	2	ABCB6	219791243	0.995000	0.38212	0.922000	0.36590	0.935000	0.57460	3.943000	0.56621	1.420000	0.47138	0.591000	0.81541	CAC		0.642	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		72	58	1	0	7.46257e-40	1	9.75036e-40	72	58				
ERCC5	2073	broad.mit.edu	37	13	103504604	103504604	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr13:103504604G>T	ENST00000355739.4	+	2	1648	c.225G>T	c.(223-225)gtG>gtT	p.V75V	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.V501F|ERCC5_ENST00000535557.1_Silent_p.V75V	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	75	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTATTTTTGTGTTTGATGGGG	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000602836.1			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073		"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E					0											c.(1501-1503)Gtt>Ttt									127.0	127.0	127.0					13																	103504604		2203	4300	6503	SO:0001819	synonymous_variant	100533467		Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103504604G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.225G>T	13.37:g.103504604G>T						ERCC5_ENST00000355739.4_Silent_p.V75V|ERCC5_ENST00000535557.1_Silent_p.V75V	p.V501F	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			10	1501	+			0					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.1501G>T	CCDS32004.1																																																																																				0.363	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			8	15	1	0	1.12685e-05	1	1.2151e-05	8	15				
COL28A1	340267	broad.mit.edu	37	7	7413146	7413146	+	Silent	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:7413146T>C	ENST00000399429.3	-	32	2531	c.2391A>G	c.(2389-2391)ctA>ctG	p.L797L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	797					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACACCAGCTCTAGTGGAGTCT	0.458																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2389-2391)ctA>ctG		collagen, type XXVIII, alpha 1							78.0	80.0	79.0					7																	7413146		1861	4099	5960	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7413146T>C	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2391A>G	7.37:g.7413146T>C							p.L797L	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2531	-		Ovarian(82;0.0789)	797					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2391A>G	CCDS43553.1																																																																																				0.458	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		29	51	0	0	0	1	0	29	51				
PTGIS	5740	broad.mit.edu	37	20	48164423	48164423	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:48164423T>C	ENST00000244043.4	-	3	361	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	111					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	ATGTGGAAGCTGCACATCAAA	0.567																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(331-333)cAg>cGg		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						171.0	167.0	168.0					20																	48164423		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48164423T>C		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.332A>G	20.37:g.48164423T>C	ENSP00000244043:p.Gln111Arg					PTGIS_ENST00000478971.1_Intron	p.Q111R	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	361	-			111					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.332A>G	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	T	8.128	0.782483	0.16189	.	.	ENSG00000124212	ENST00000244043	T	0.68025	-0.3	5.01	2.76	0.32466	.	0.308707	0.27792	N	0.017839	T	0.37571	0.1008	N	0.05441	-0.05	0.27588	N	0.949378	B	0.02656	0.0	B	0.06405	0.002	T	0.17167	-1.0378	10	0.11182	T	0.66	-7.4924	5.7879	0.18343	0.0:0.3694:0.0:0.6306	.	111	Q16647	PTGIS_HUMAN	R	111	ENSP00000244043:Q111R	ENSP00000244043:Q111R	Q	-	2	0	PTGIS	47597830	0.915000	0.31059	0.997000	0.53966	0.810000	0.45777	-0.041000	0.12084	0.749000	0.32854	0.374000	0.22700	CAG		0.567	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			106	137	0	0	0	1	0	106	137				
PHF2	5253	broad.mit.edu	37	9	96418870	96418870	+	Silent	SNP	A	A	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:96418870A>C	ENST00000359246.4	+	9	1507	c.1140A>C	c.(1138-1140)gcA>gcC	p.A380A	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	380					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGCTGGAGGCATTCAAAGGTA	0.582																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1138-1140)gcA>gcC		PHD finger protein 2							108.0	116.0	113.0					9																	96418870		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96418870A>C	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1140A>C	9.37:g.96418870A>C						PHF2_ENST00000375376.4_Intron	p.A380A	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	9	1507	+		Myeloproliferative disorder(762;0.0255)	380					Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.1140A>C	CCDS35069.1																																																																																				0.582	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		31	81	0	0	0	1	0	31	81				
TTC6	319089	broad.mit.edu	37	14	38273972	38273972	+	Silent	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:38273972C>T	ENST00000476979.1	+	5	597	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	TTC6_ENST00000267368.7_Silent_p.L104L|TTC6_ENST00000553443.1_Silent_p.L1373L|TTC6_ENST00000382320.3_Silent_p.L87L			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	104										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AGCAGACTGTCTGTATAACTT	0.378																																						ENST00000553443.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14						c.(4117-4119)Ctg>Ttg		tetratricopeptide repeat domain 6							224.0	208.0	213.0					14																	38273972		2203	4300	6503	SO:0001819	synonymous_variant	319089							g.chr14:38273972C>T	BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.310C>T	14.37:g.38273972C>T						TTC6_ENST00000267368.7_Silent_p.L104L|TTC6_ENST00000476979.1_Silent_p.L104L|TTC6_ENST00000382320.3_Silent_p.L87L	p.L1373L					Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)	21	4117	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)							Q3SY88|Q96CE6	Silent	SNP	ENST00000476979.1	37	c.4117C>T																																																																																					0.378	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299		71	50	0	0	0	1	0	71	50				
ZNF12	7559	broad.mit.edu	37	7	6730867	6730867	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:6730867C>T	ENST00000405858.1	-	5	2247	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K	ZNF12_ENST00000404360.1_Missense_Mutation_p.R495K|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.R531K|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	569					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGAATGAATTCTATGATGTAT	0.408																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(1705-1707)aGa>aAa		zinc finger protein 12							47.0	51.0	50.0					7																	6730867		2172	4290	6462	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6730867C>T	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1706G>A	7.37:g.6730867C>T	ENSP00000385939:p.Arg569Lys					AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.R531K|ZNF12_ENST00000404360.1_Missense_Mutation_p.R495K	p.R569K	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2247	-		Ovarian(82;0.0776)	569					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1706G>A	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150872	0.78001	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.18338	2.22;2.22;2.22	4.0	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39687	N	0.001290	T	0.33206	0.0855	L	0.45581	1.43	0.38085	D	0.936796	D;P	0.71674	0.998;0.73	D;P	0.83275	0.996;0.516	T	0.05767	-1.0865	10	0.38643	T	0.18	.	14.4017	0.67050	0.0:1.0:0.0:0.0	.	569;531	P17014;P17014-5	ZNF12_HUMAN;.	K	495;569;531;627	ENSP00000384405:R495K;ENSP00000385939:R569K;ENSP00000344745:R531K	ENSP00000344745:R531K	R	-	2	0	ZNF12	6697392	0.000000	0.05858	0.089000	0.20774	0.977000	0.68977	0.561000	0.23515	2.521000	0.84997	0.655000	0.94253	AGA		0.408	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		4	69	0	0	0	1	0	4	69				
AJUBA	84962	broad.mit.edu	37	14	23444314	23444314	+	Splice_Site	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:23444314C>A	ENST00000262713.2	-	5	1615		c.e5-1		AJUBA_ENST00000397388.3_Splice_Site|AJUBA_ENST00000361265.4_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein						calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTTGTAGGATCTGGCTCATGG	0.517																																						ENST00000262713.2																			0											c.e5-1		ajuba LIM protein							76.0	73.0	74.0					14																	23444314		2203	4300	6503	SO:0001630	splice_region_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444314C>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1240-1G>T	14.37:g.23444314C>A						RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site|AJUBA_ENST00000397388.3_Splice_Site		NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			5	1615	-								A8MX18|D3DS37	Splice_Site	SNP	ENST00000262713.2	37		CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060391	0.76074	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JUB	22514154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.331000	0.79192	2.894000	0.99253	0.655000	0.94253	.		0.517	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2		Intron	12	33	1	0	0.00185496	1	0.00194174	12	33				
NOL8	55035	broad.mit.edu	37	9	95077738	95077738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:95077738delT	ENST00000535387.1	-	6	1168	c.1169delA	c.(1168-1170)aatfs	p.N390fs	NOL8_ENST00000545558.1_Frame_Shift_Del_p.N390fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.N322fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.N390fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.N322fs					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTAGCAACATTTTTTTTCAT	0.323																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(1168-1170)atfs		nucleolar protein 8							49.0	41.0	43.0					9																	95077738		1827	4075	5902	SO:0001589	frameshift_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077738delT	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1169delA	9.37:g.95077738delT	ENSP00000441300:p.Asn390fs					NOL8_ENST00000535387.1_Frame_Shift_Del_p.N390fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.N322fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.N322fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.N390fs	p.N390fs			Q76FK4	NOL8_HUMAN			7	1661	-			390						Frame_Shift_Del	DEL	ENST00000535387.1	37	c.1169delA	CCDS47993.1																																																																																				0.323	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		2	4						2	4	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	62						7	62	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del					PRB1_ENST00000546254.1_Intron	p.NK168del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		9	556						9	556	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578547	7578547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:7578547delG	ENST00000269305.4	-	5	572	c.383delC	c.(382-384)cctfs	p.P128fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P128fs	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	128	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (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.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.Y126fs*18(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)	GTTGAGGGCAGGGGAGTACTG	0.562		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"""		29	Deletion - In frame(11)|Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(3)|Unknown(1)	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.Y126fs*18(1)	upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|breast(3)|urinary_tract(2)|lung(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|oesophagus(1)|prostate(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.(382-384)ctfs	Other conserved DNA damage response genes	tumor protein p53							44.0	45.0	44.0					17																	7578547		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7578547delG	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.383delC	17.37:g.7578547delG	ENSP00000269305:p.Pro128fs	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_ENST00000413465.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P128fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P128fs	p.P128fs	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)	5	515	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	128		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.383delC	CCDS11118.1																																																																																				0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		65	8						65	8	---	---	---	---
FOXJ1	2302	broad.mit.edu	37	17	74133646	74133648	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:74133646_74133648delGGC	ENST00000322957.6	-	3	1406_1408	c.1052_1054delGCC	c.(1051-1056)cgccac>cac	p.R351del	RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	351					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CAGTCGATGTGGCGGCCGTGGAT	0.69																																						ENST00000322957.6																			0				large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4						c.(1051-1056)cac>c		forkhead box J1																																				SO:0001651	inframe_deletion	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:74133646_74133648delGGC	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.1052_1054delGCC	17.37:g.74133649_74133651delGGC	ENSP00000323880:p.Arg351del						p.RH351del	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	1406_1408	-			351					O00630	In_Frame_Del	DEL	ENST00000322957.6	37	c.1052_1054delGCC	CCDS32739.1																																																																																				0.690	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		7	3						7	3	---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60646563	60646565	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:60646563_60646565delCAG	ENST00000262719.5	+	17	5287_5289	c.5053_5055delCAG	c.(5053-5055)cagdel	p.Q1689del	PHLPP1_ENST00000400316.4_In_Frame_Del_p.Q1177del			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1689	Poly-Gln.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						ccaggagcaacagcagcagcagc	0.586																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3517-3519)del		PH domain and leucine rich repeat protein phosphatase 1				118,3668		38,42,1813						1.3	1.0			7	265,7225		67,131,3547	no	coding	PHLPP1	NM_194449.2		105,173,5360	A1A1,A1R,RR		3.5381,3.1167,3.3966				383,10893				SO:0001651	inframe_deletion	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646563_60646565delCAG	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.5053_5055delCAG	18.37:g.60646572_60646574delCAG	ENSP00000262719:p.Gln1689del					PHLPP1_ENST00000262719.5_In_Frame_Del_p.Q1689del	p.Q1177del	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	5298_5300	+			1689			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	In_Frame_Del	DEL	ENST00000262719.5	37	c.3517_3519delCAG	CCDS45881.2																																																																																				0.586	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		2	4						2	4	---	---	---	---
