#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
BTD	686	broad.mit.edu	37	3	15686764	15686764	+	Silent	SNP	C	C	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:15686764C>A	ENST00000303498.5	+	4	1510	c.1401C>A	c.(1399-1401)ggC>ggA	p.G467G	BTD_ENST00000437172.1_Silent_p.G469G|BTD_ENST00000449107.1_Silent_p.G469G|BTD_ENST00000383778.4_Silent_p.G447G	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	467					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGGGTCTTGGCTTCGACACCT	0.507																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(1339-1341)ggC>ggA		biotinidase							99.0	103.0	101.0					3																	15686764		2203	4300	6503	SO:0001819	synonymous_variant	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686764C>A	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1401C>A	3.37:g.15686764C>A						BTD_ENST00000437172.1_Silent_p.G469G|BTD_ENST00000449107.1_Silent_p.G469G|BTD_ENST00000303498.5_Silent_p.G467G	p.G447G			P43251	BTD_HUMAN			4	1699	+			467					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Silent	SNP	ENST00000303498.5	37	c.1341C>A	CCDS2628.1																																																																																				0.507	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		4	121	1	0	0.00909568	1	0.00921082	4	121				
ZNF17	7565	broad.mit.edu	37	19	57932608	57932608	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:57932608A>G	ENST00000601808.1	+	3	1961	c.1748A>G	c.(1747-1749)aAa>aGa	p.K583R	ZNF17_ENST00000307658.7_Missense_Mutation_p.K585R|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGAACTTACAAATGCAGCAAA	0.428																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1753-1755)aAa>aGa		zinc finger protein 17							53.0	54.0	53.0					19																	57932608		2084	4246	6330	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932608A>G	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1748A>G	19.37:g.57932608A>G	ENSP00000471905:p.Lys583Arg					AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.K583R	p.K585R			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	2017	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	583					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1754A>G	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609717	0.46527	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.35	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36717	0.0977	L	0.58969	1.84	0.09310	N	1	P;P	0.48694	0.914;0.478	P;B	0.49252	0.604;0.16	T	0.20571	-1.0271	8	0.48119	T	0.1	.	2.6185	0.04910	0.6302:0.0:0.1382:0.2316	.	585;583	P17021-2;P17021	.;ZNF17_HUMAN	R	583	.	ENSP00000302455:K583R	K	+	2	0	ZNF17	62624420	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.104000	0.10923	0.127000	0.18452	0.383000	0.25322	AAA		0.428	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		9	31	0	0	0	1	0	9	31				
CHD8	57680	broad.mit.edu	37	14	21861840	21861840	+	Silent	SNP	T	T	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21861840T>G	ENST00000557364.1	-	32	6377	c.6114A>C	c.(6112-6114)ccA>ccC	p.P2038P	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000399982.2_Silent_p.P2038P|CHD8_ENST00000430710.3_Silent_p.P1759P|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2038					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATAGTCTTGTGGGGTTGGTC	0.547																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6112-6114)ccA>ccC		chromodomain helicase DNA binding protein 8							57.0	59.0	58.0					14																	21861840		1999	4169	6168	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21861840T>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6114A>C	14.37:g.21861840T>G						CHD8_ENST00000430710.3_Silent_p.P1759P|CHD8_ENST00000557364.1_Silent_p.P2038P	p.P2038P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	6178	-	all_cancers(95;0.00121)		2038					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.6114A>C	CCDS53885.1																																																																																				0.547	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		5	51	0	0	0	1	0	5	51				
TRIM15	89870	broad.mit.edu	37	6	30138337	30138337	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:30138337T>C	ENST00000376694.4	+	5	1260	c.791T>C	c.(790-792)aTc>aCc	p.I264T	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	264					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GTCAAGAAGATCCGTGATTTC	0.483																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(790-792)aTc>aCc		tripartite motif containing 15							113.0	110.0	111.0					6																	30138337		2203	4300	6503	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30138337T>C	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.791T>C	6.37:g.30138337T>C	ENSP00000365884:p.Ile264Thr					TRIM15_ENST00000376688.1_Intron	p.I264T	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			5	1260	+			264					A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.791T>C	CCDS4677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.74|15.74	2.922776|2.922776	0.52653|0.52653	.|.	.|.	ENSG00000204610|ENSG00000204610	ENST00000376695;ENST00000376694|ENST00000433744	T|.	0.55760|.	0.5|.	5.62|5.62	4.46|4.46	0.54185|0.54185	.|.	0.110550|.	0.40144|.	N|.	0.001179|.	T|T	0.40119|0.40119	0.1104|0.1104	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	B|.	0.32031|.	0.352|.	B|.	0.29440|.	0.102|.	T|T	0.33343|0.33343	-0.9872|-0.9872	10|5	0.46703|.	T|.	0.11|.	.|.	8.2697|8.2697	0.31836|0.31836	0.0:0.0902:0.0:0.9098|0.0:0.0902:0.0:0.9098	.|.	264|.	Q9C019|.	TRI15_HUMAN|.	T|P	195;264|101	ENSP00000365884:I264T|.	ENSP00000365884:I264T|.	I|S	+|+	2|1	0|0	TRIM15|TRIM15	30246316|30246316	0.018000|0.018000	0.18449|0.18449	0.877000|0.877000	0.34402|0.34402	0.817000|0.817000	0.46193|0.46193	1.308000|1.308000	0.33528|0.33528	0.956000|0.956000	0.37904|0.37904	0.472000|0.472000	0.43445|0.43445	ATC|TCC		0.483	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		3	89	0	0	0	1	0	3	89				
BDP1	55814	broad.mit.edu	37	5	70806830	70806830	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:70806830A>G	ENST00000358731.4	+	17	4174	c.3911A>G	c.(3910-3912)aAg>aGg	p.K1304R	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1304	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTGAGGAAAAGGTGGCAGAA	0.393																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3910-3912)aAg>aGg		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							100.0	100.0	100.0					5																	70806830		1872	4103	5975	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806830A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3911A>G	5.37:g.70806830A>G	ENSP00000351575:p.Lys1304Arg					BDP1_ENST00000380675.2_5'UTR	p.K1304R	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	4174	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1304			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3911A>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911873	0.33721	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.11169	2.8	3.32	-6.65	0.01795	.	1.221250	0.06011	N	0.649496	T	0.03305	0.0096	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.29037	0.231;0.013;0.005	B;B;B	0.20955	0.032;0.014;0.002	T	0.33929	-0.9849	10	0.08837	T	0.75	.	3.4545	0.07510	0.2554:0.4779:0.1156:0.151	.	1304;1304;1304	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	R	1304;884	ENSP00000351575:K1304R	ENSP00000351575:K1304R	K	+	2	0	BDP1	70842586	0.002000	0.14202	0.000000	0.03702	0.862000	0.49288	-1.688000	0.01925	-2.663000	0.00418	-0.973000	0.02599	AAG		0.393	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		3	57	0	0	0	1	0	3	57				
SIPA1L3	23094	broad.mit.edu	37	19	38643516	38643516	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:38643516T>C	ENST00000222345.6	+	13	4079	c.3570T>C	c.(3568-3570)gaT>gaC	p.D1190D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1190					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TATCTCTTGATCCCCACTTCA	0.617																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3568-3570)gaT>gaC		signal-induced proliferation-associated 1 like 3							155.0	145.0	148.0					19																	38643516		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38643516T>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3570T>C	19.37:g.38643516T>C							p.D1190D	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		13	4079	+			1190					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.3570T>C	CCDS33007.1																																																																																				0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		39	149	0	0	0	1	0	39	149				
IFNA7	3444	broad.mit.edu	37	9	21201904	21201904	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:21201904G>A	ENST00000239347.3	-	1	300	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	87					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGATTGAAGGTCTGCTGGA	0.478																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(259-261)acC>acT		interferon, alpha 7							81.0	80.0	80.0					9																	21201904		2203	4297	6500	SO:0001819	synonymous_variant	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201904G>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.261C>T	9.37:g.21201904G>A							p.T87T	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	300	-			87					Q14607|Q5VV14	Silent	SNP	ENST00000239347.3	37	c.261C>T	CCDS34995.1																																																																																				0.478	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		3	67	0	0	0	1	0	3	67				
COL20A1	57642	broad.mit.edu	37	20	61960983	61960983	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:61960983G>A	ENST00000358894.6	+	35	3928	c.3828G>A	c.(3826-3828)ggG>ggA	p.G1276G	COL20A1_ENST00000496810.1_3'UTR|COL20A1_ENST00000422202.1_Silent_p.G1289G|COL20A1_ENST00000326996.6_Silent_p.G1308G|COL20A1_ENST00000435874.1_Silent_p.G1289G	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1276					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCAGCAGGGGGCTAGCACCC	0.662																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3865-3867)ggG>ggA		collagen, type XX, alpha 1							26.0	30.0	29.0					20																	61960983		1983	4144	6127	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61960983G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3828G>A	20.37:g.61960983G>A						COL20A1_ENST00000496810.1_3'UTR|COL20A1_ENST00000435874.1_Silent_p.G1289G|COL20A1_ENST00000358894.6_Silent_p.G1276G|COL20A1_ENST00000326996.6_Silent_p.G1308G	p.G1289G			Q9P218	COKA1_HUMAN			34	3935	+	all_cancers(38;1.39e-10)		1276					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.3867G>A	CCDS46628.1																																																																																				0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		4	21	0	0	0	1	0	4	21				
KDR	3791	broad.mit.edu	37	4	55981079	55981079	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:55981079T>C	ENST00000263923.4	-	5	915	c.620A>G	c.(619-621)gAa>gGa	p.E207G		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	207	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGTAACTTTCATCATTAAT	0.373			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(619-621)gAa>gGa		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						86.0	86.0	86.0					4																	55981079		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55981079T>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.620A>G	4.37:g.55981079T>C	ENSP00000263923:p.Glu207Gly	TSP Lung(20;0.16)					p.E207G	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		5	915	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		207			Ig-like C2-type 2.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.620A>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721633	0.89298	.	.	ENSG00000128052	ENST00000263923	T	0.04970	3.52	5.9	5.9	0.94986	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00402	-1.1762	10	0.51188	T	0.08	.	16.315	0.82915	0.0:0.0:0.0:1.0	.	207;207	P35968-2;P35968	.;VGFR2_HUMAN	G	207	ENSP00000263923:E207G	ENSP00000263923:E207G	E	-	2	0	KDR	55675836	1.000000	0.71417	0.977000	0.42913	0.930000	0.56654	7.361000	0.79497	2.250000	0.74265	0.533000	0.62120	GAA		0.373	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			3	48	0	0	0	1	0	3	48				
FMR1NB	158521	broad.mit.edu	37	X	147084823	147084823	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:147084823A>G	ENST00000370467.3	+	2	454	c.380A>G	c.(379-381)aAt>aGt	p.N127S		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTT	0.373																																						ENST00000370467.3																			1	Insertion - Frameshift(1)	p.F130fs*17(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(379-381)aAt>aGt		fragile X mental retardation 1 neighbor							98.0	89.0	92.0					X																	147084823		2203	4299	6502	SO:0001583	missense	158521					integral to membrane		g.chrX:147084823A>G		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.380A>G	X.37:g.147084823A>G	ENSP00000359498:p.Asn127Ser						p.N127S	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			2	454	+	Acute lymphoblastic leukemia(192;6.56e-05)		127			P-type.		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.380A>G	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	A	8.613	0.889635	0.17540	.	.	ENSG00000176988	ENST00000370467	T	0.45276	0.9	4.94	-9.88	0.00467	.	2.316320	0.01768	N	0.031027	T	0.19406	0.0466	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.10520	-1.0626	10	0.17832	T	0.49	0.5734	9.7741	0.40607	0.7094:0.0:0.1067:0.1839	.	127	Q8N0W7	FMR1N_HUMAN	S	127	ENSP00000359498:N127S	ENSP00000359498:N127S	N	+	2	0	FMR1NB	146892515	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.497000	0.06428	-2.799000	0.00353	-1.033000	0.02402	AAT		0.373	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		5	22	0	0	0	1	0	5	22				
TTN	7273	broad.mit.edu	37	2	179463964	179463964	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179463964G>A	ENST00000591111.1	-	240	51857	c.51633C>T	c.(51631-51633)ggC>ggT	p.G17211G	TTN_ENST00000589042.1_Silent_p.G18852G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.G16284G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G9979G|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.G9912G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.G9787G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17211	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTCATGGCCTTCTAGCA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(56554-56556)ggC>ggT		titin							206.0	196.0	199.0					2																	179463964		1901	4116	6017	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463964G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51633C>T	2.37:g.179463964G>A						TTN_ENST00000342175.6_Silent_p.G9979G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.G17211G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.G16284G|TTN_ENST00000359218.5_Silent_p.G9912G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.G9787G|TTN-AS1_ENST00000585451.1_RNA	p.G18852G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		290	56780	-			17211			Ig-like 107.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.56556C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	118	0	0	0	1	0	26	118				
ARHGEF35	445328	broad.mit.edu	37	7	143884337	143884337	+	Silent	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:143884337C>T	ENST00000378115.2	-	2	1269	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	ARHGEF35_ENST00000543357.1_Silent_p.E380E	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	380	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CATCCCAACTCTCTGGCTCTT	0.557																																						ENST00000378115.2																			0				kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						c.(1138-1140)gaG>gaA		Rho guanine nucleotide exchange factor (GEF) 35							21.0	22.0	21.0					7																	143884337		1911	3653	5564	SO:0001819	synonymous_variant	445328							g.chr7:143884337C>T	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1140G>A	7.37:g.143884337C>T						ARHGEF35_ENST00000543357.1_Silent_p.E380E	p.E380E	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN			2	1269	-			380			Glu-rich.		Q6ZUI2	Silent	SNP	ENST00000378115.2	37	c.1140G>A	CCDS34770.1																																																																																				0.557	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		10	76	0	0	0	1	0	10	76				
ZNF207	7756	broad.mit.edu	37	17	30696691	30696691	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:30696691G>A	ENST00000321233.6	+	11	1504	c.1350G>A	c.(1348-1350)ccG>ccA	p.P450P	ZNF207_ENST00000342555.6_Silent_p.P469P|ZNF207_ENST00000341711.6_Silent_p.P367P|ZNF207_ENST00000394673.2_Silent_p.P435P|ZNF207_ENST00000394670.4_Silent_p.P466P|ZNF207_ENST00000577908.1_Silent_p.P466P	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	450					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCAGGGACCGCCAATGGTGC	0.527																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(1396-1398)ccG>ccA		zinc finger protein 207							71.0	63.0	66.0					17																	30696691		2203	4300	6503	SO:0001819	synonymous_variant	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30696691G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1350G>A	17.37:g.30696691G>A						ZNF207_ENST00000342555.6_Silent_p.P469P|ZNF207_ENST00000394673.2_Silent_p.P435P|ZNF207_ENST00000341711.6_Silent_p.P367P|ZNF207_ENST00000321233.6_Silent_p.P450P|ZNF207_ENST00000577908.1_Silent_p.P466P	p.P466P	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		12	1567	+		Breast(31;0.116)|Ovarian(249;0.182)	450					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Silent	SNP	ENST00000321233.6	37	c.1398G>A	CCDS11271.1																																																																																				0.527	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			7	57	0	0	0	1	0	7	57				
ATXN2L	11273	broad.mit.edu	37	16	28846954	28846954	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:28846954C>G	ENST00000336783.4	+	21	2937	c.2770C>G	c.(2770-2772)Ccc>Gcc	p.P924A	ATXN2L_ENST00000340394.8_Missense_Mutation_p.P924A|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P924A|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P924A|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P930A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P924A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P924A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	924					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGCACGCCGCCCTCTCTGCC	0.677																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2770-2772)Ccc>Gcc		ataxin 2-like							42.0	41.0	41.0					16																	28846954		2197	4299	6496	SO:0001583	missense	11273					membrane		g.chr16:28846954C>G		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2770C>G	16.37:g.28846954C>G	ENSP00000338718:p.Pro924Ala					ATXN2L_ENST00000564304.1_Missense_Mutation_p.P930A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P924A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P924A|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P924A|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P924A|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P924A	p.P924A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			21	2937	+			924					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2770C>G	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	16.51	3.142768	0.57044	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;D;T;T;T	0.81499	-1.33;-1.5;-1.44;-1.36;-1.39	5.82	4.87	0.63330	.	0.081904	0.51477	D	0.000087	T	0.74061	0.3667	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.24533	0.063;0.063;0.105;0.105;0.063;0.105	B;B;B;B;B;B	0.27715	0.038;0.038;0.082;0.082;0.038;0.082	T	0.71314	-0.4630	10	0.49607	T	0.09	-11.7313	13.8513	0.63499	0.0:0.9254:0.0:0.0746	.	924;924;924;924;924;924	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	A	924	ENSP00000341459:P924A;ENSP00000378917:P924A;ENSP00000338718:P924A;ENSP00000372133:P924A;ENSP00000315650:P924A	ENSP00000315650:P924A	P	+	1	0	ATXN2L	28754455	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.899000	0.69846	1.465000	0.48006	0.467000	0.42956	CCC		0.677	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		5	61	0	0	0	1	0	5	61				
C17orf47	284083	broad.mit.edu	37	17	56620229	56620229	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:56620229C>T	ENST00000321691.3	-	1	1500	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	440										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCAGCTGGCTTTGGGGTGT	0.507																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1318-1320)aGc>aAc		chromosome 17 open reading frame 47							130.0	140.0	136.0					17																	56620229		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620229C>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1319G>A	17.37:g.56620229C>T	ENSP00000354874:p.Ser440Asn					RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.S440N	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	1500	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		440					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1319G>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446510	0.25987	.	.	ENSG00000181013	ENST00000321691	T	0.39997	1.05	5.62	3.58	0.41010	.	0.233302	0.38605	N	0.001637	T	0.27027	0.0662	N	0.17082	0.46	0.09310	N	1	P	0.44816	0.844	P	0.44772	0.46	T	0.06427	-1.0827	10	0.25106	T	0.35	-6.6392	6.981	0.24704	0.0:0.7286:0.1763:0.0951	.	440	Q8NEP4	CQ047_HUMAN	N	440	ENSP00000354874:S440N	ENSP00000354874:S440N	S	-	2	0	C17orf47	53975228	0.241000	0.23857	0.209000	0.23619	0.358000	0.29455	1.082000	0.30803	0.677000	0.31305	0.561000	0.74099	AGC		0.507	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		43	72	0	0	0	1	0	43	72				
PCNX	22990	broad.mit.edu	37	14	71492954	71492954	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:71492954A>C	ENST00000304743.2	+	14	3750	c.3304A>C	c.(3304-3306)Ata>Cta	p.I1102L	PCNX_ENST00000439984.3_Missense_Mutation_p.I991L|PCNX_ENST00000238570.5_Missense_Mutation_p.I1102L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1102						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTATATGGAATAACTTTCAC	0.338																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3304-3306)Ata>Cta		pecanex homolog (Drosophila)							96.0	89.0	91.0					14																	71492954		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71492954A>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3304A>C	14.37:g.71492954A>C	ENSP00000304192:p.Ile1102Leu					PCNX_ENST00000439984.3_Missense_Mutation_p.I991L|PCNX_ENST00000238570.5_Missense_Mutation_p.I1102L	p.I1102L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	14	3750	+			1102					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3304A>C	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.38|10.38	1.334395|1.334395	0.24253|0.24253	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.59083	.|0.29;0.29;0.29	5.64|5.64	3.23|3.23	0.37069|0.37069	.|.	.|0.200527	.|0.52532	.|D	.|0.000077	T|T	0.22513|0.22513	0.0543|0.0543	N|N	0.01146|0.01146	-0.985|-0.985	0.29069|0.29069	N|N	0.883404|0.883404	.|B;B	.|0.10296	.|0.0;0.003	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.30794|0.30794	-0.9966|-0.9966	5|10	.|0.02654	.|T	.|1	.|.	10.085|10.085	0.42412|0.42412	0.8628:0.0:0.1372:0.0|0.8628:0.0:0.1372:0.0	.|.	.|991;1102	.|B2RTR6;Q96RV3	.|.;PCX1_HUMAN	D|L	160|1102;1102;991	.|ENSP00000304192:I1102L;ENSP00000238570:I1102L;ENSP00000396617:I991L	.|ENSP00000238570:I1102L	E|I	+|+	3|1	2|0	PCNX|PCNX	70562707|70562707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.305000|2.305000	0.43664|0.43664	0.400000|0.400000	0.25396|0.25396	0.533000|0.533000	0.62120|0.62120	GAA|ATA		0.338	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		3	23	0	0	0	1	0	3	23				
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(550-552)cTa>cCa		heparan sulfate 6-O-sulfotransferase 1							27.0	28.0	28.0					2																	129026421		2038	4089	6127	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026421A>G	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.551T>C	2.37:g.129026421A>G	ENSP00000259241:p.Leu184Pro						p.L184P	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	564	-	Colorectal(110;0.1)		184					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.551T>C	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237048	0.79800	.	.	ENSG00000136720	ENST00000259241	T	0.75260	-0.92	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	D	0.88145	0.6358	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.90391	0.4395	9	.	.	.	.	14.4384	0.67298	1.0:0.0:0.0:0.0	.	184	O60243	H6ST1_HUMAN	P	184	ENSP00000259241:L184P	.	L	-	2	0	HS6ST1	128742891	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.936000	0.92931	1.813000	0.52934	0.379000	0.24179	CTA		0.622	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		4	77	0	0	0	1	0	4	77				
GBA3	57733	broad.mit.edu	37	4	22729254	22729254	+	RNA	SNP	T	T	C	rs529333119	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:22729254T>C	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_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						AAAAGGAGTCTTTGGACAGTG	0.413																																						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)							174.0	180.0	178.0					4																	22729254		2203	4299	6502			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729254T>C	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.22729254T>C						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	149	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.413	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			52	121	0	0	0	1	0	52	121				
LRRC37A6P	387646	broad.mit.edu	37	10	27538754	27538754	+	lincRNA	SNP	G	G	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:27538754G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TAAGCCCCAGGTCCAAAGGTT	0.502																																						ENST00000574842.1																			0																				74.0	65.0	68.0					10																	27538754		692	1591	2283			0							g.chr10:27538754G>T																													10.37:g.27538754G>T						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.502	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			23	150	1	0	5.61819e-17	1	5.79942e-17	23	150				
CFAP43	80217	broad.mit.edu	37	10	105990460	105990460	+	Silent	SNP	G	G	A	rs374123628		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:105990460G>A	ENST00000357060.3	-	2	322	c.207C>T	c.(205-207)ggC>ggT	p.G69G	WDR96_ENST00000369719.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.G69G|WDR96_ENST00000369720.1_5'UTR|WDR96_ENST00000278064.2_5'UTR	NM_025145.5	NP_079421.5												p.G69G(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGCCATGACGCCCACAATTC	0.408																																						ENST00000357060.3																			2	Substitution - coding silent(2)	p.G69G(2)	large_intestine(2)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(205-207)ggC>ggT		WD repeat domain 96		G		0,4406		0,0,2203	144.0	132.0	136.0		207	1.3	1.0	10		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR96	NM_025145.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		69/1666	105990460	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105990460G>A																												ENST00000357060.3:c.207C>T	10.37:g.105990460G>A						WDR96_ENST00000369719.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.G69G|WDR96_ENST00000369720.1_5'UTR|WDR96_ENST00000278064.2_5'UTR	p.G69G	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			2	322	-			69						Silent	SNP	ENST00000357060.3	37	c.207C>T	CCDS31281.1																																																																																				0.408	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	68	0	0	0	1	0	4	68				
CPXM2	119587	broad.mit.edu	37	10	125557566	125557566	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:125557566C>T	ENST00000241305.3	-	6	969	c.815G>A	c.(814-816)cGc>cAc	p.R272H	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	272	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGGTTTATGCGGATGTAGCG	0.517																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(814-816)cGc>cAc		carboxypeptidase X (M14 family), member 2							125.0	105.0	112.0					10																	125557566		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125557566C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.815G>A	10.37:g.125557566C>T	ENSP00000241305:p.Arg272His					CPXM2_ENST00000368854.3_5'UTR	p.R272H	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	6	969	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	272			F5/8 type C.		B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.815G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328790	0.60743	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.99105	-5.43	4.46	4.46	0.54185	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97155	0.9834	10	0.87932	D	0	1.3719	17.3109	0.87210	0.0:1.0:0.0:0.0	.	272	Q8N436	CPXM2_HUMAN	H	272;105;272	ENSP00000241305:R272H	ENSP00000241305:R272H	R	-	2	0	CPXM2	125547556	1.000000	0.71417	0.963000	0.40424	0.035000	0.12851	7.219000	0.78000	2.292000	0.77174	0.557000	0.71058	CGC		0.517	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		11	52	0	0	0	1	0	11	52				
EIF2AK3	9451	broad.mit.edu	37	2	88913303	88913303	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:88913303T>C	ENST00000303236.3	-	2	678	c.377A>G	c.(376-378)aAg>aGg	p.K126R	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	126					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						ATCCCACTGCTTTTTACCATG	0.353																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(376-378)aAg>aGg		eukaryotic translation initiation factor 2-alpha kinase 3							123.0	109.0	114.0					2																	88913303		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88913303T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.377A>G	2.37:g.88913303T>C	ENSP00000307235:p.Lys126Arg					EIF2AK3_ENST00000419748.1_5'UTR	p.K126R	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			2	678	-			126					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.377A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471166	0.63625	.	.	ENSG00000172071	ENST00000303236	T	0.30448	1.53	5.38	5.38	0.77491	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	M	0.72118	2.19	0.47862	D	0.999533	D	0.69078	0.997	D	0.75020	0.985	T	0.48399	-0.9039	10	0.14252	T	0.57	-23.781	15.3963	0.74798	0.0:0.0:0.0:1.0	.	126	Q9NZJ5	E2AK3_HUMAN	R	126	ENSP00000307235:K126R	ENSP00000307235:K126R	K	-	2	0	EIF2AK3	88694418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.597000	0.82733	2.028000	0.59812	0.533000	0.62120	AAG		0.353	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		10	95	0	0	0	1	0	10	95				
TMCC1	23023	broad.mit.edu	37	3	129547187	129547187	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:129547187T>G	ENST00000393238.3	-	3	375	c.35A>C	c.(34-36)gAc>gCc	p.D12A	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	12						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGGATCAGGGTCCTCAAATAA	0.393																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(34-36)gAc>gCc		transmembrane and coiled-coil domain family 1							72.0	75.0	74.0					3																	129547187		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129547187T>G	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.35A>C	3.37:g.129547187T>G	ENSP00000376930:p.Asp12Ala					TMCC1_ENST00000426664.2_Intron	p.D12A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	375	-			12					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.35A>C	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399462	0.42512	.	.	ENSG00000172765	ENST00000393238	T	0.35048	1.33	5.16	5.16	0.70880	.	0.144240	0.45361	D	0.000364	T	0.27663	0.0680	L	0.44542	1.39	0.80722	D	1	P	0.37781	0.608	B	0.27500	0.08	T	0.06409	-1.0828	10	0.25751	T	0.34	-22.0929	15.3226	0.74135	0.0:0.0:0.0:1.0	.	12	O94876	TMCC1_HUMAN	A	12	ENSP00000376930:D12A	ENSP00000376930:D12A	D	-	2	0	TMCC1	131029877	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.607000	0.82883	2.087000	0.62958	0.397000	0.26171	GAC		0.393	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		5	130	0	0	0	1	0	5	130				
TMEFF2	23671	broad.mit.edu	37	2	192818453	192818453	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:192818453C>G	ENST00000272771.5	-	9	2164	c.980G>C	c.(979-981)gGa>gCa	p.G327A	TMEFF2_ENST00000392314.1_Missense_Mutation_p.G327A|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	327						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTGAATTGTTCCAATCACAGC	0.428																																					Pancreas(50;1277 1381 28487 47072)	ENST00000392314.1																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(979-981)gGa>gCa		transmembrane protein with EGF-like and two follistatin-like domains 2							126.0	109.0	115.0					2																	192818453		2203	4300	6503	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192818453C>G	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.980G>C	2.37:g.192818453C>G	ENSP00000272771:p.Gly327Ala					AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.G327A|AC098617.1_ENST00000428980.2_RNA	p.G327A			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		9	1371	-			327					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.980G>C	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930442	0.92389	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.59224	0.28;1.01	5.86	5.86	0.93980	.	0.053167	0.85682	D	0.000000	T	0.57577	0.2063	N	0.20986	0.625	0.80722	D	1	D	0.60575	0.988	P	0.52309	0.695	T	0.54892	-0.8225	10	0.36615	T	0.2	-13.5554	20.1986	0.98248	0.0:1.0:0.0:0.0	.	327	Q9UIK5	TEFF2_HUMAN	A	327	ENSP00000376128:G327A;ENSP00000272771:G327A	ENSP00000272771:G327A	G	-	2	0	TMEFF2	192526698	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.436000	0.80404	2.781000	0.95711	0.650000	0.86243	GGA		0.428	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		3	66	0	0	0	1	0	3	66				
AOC4P	90586	broad.mit.edu	37	17	41019997	41019997	+	RNA	SNP	C	C	T	rs554140370		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:41019997C>T	ENST00000585538.1	+	0	836					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		ACATCTCGGGCGCTGGGTTCT	0.612													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17424	0.0		0.0	False		,,,				2504	0.0					ENST00000585538.1																			0																																																			0							g.chr17:41019997C>T			17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41019997C>T								NR_002773.1						0	836	+									RNA	SNP	ENST00000585538.1	37																																																																																						0.612	AOC4P-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000452449.1			4	61	0	0	0	1	0	4	61				
NUP188	23511	broad.mit.edu	37	9	131760453	131760453	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:131760453C>G	ENST00000372577.2	+	31	3396	c.3375C>G	c.(3373-3375)gaC>gaG	p.D1125E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1125					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGACTGACTCTGTGGTGC	0.463																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3373-3375)gaC>gaG		nucleoporin 188kDa							209.0	213.0	212.0					9																	131760453		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131760453C>G	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3375C>G	9.37:g.131760453C>G	ENSP00000361658:p.Asp1125Glu						p.D1125E	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			31	3396	+			1125					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3375C>G	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978079	0.34942	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32753	1.44	5.67	-1.64	0.08318	.	0.143965	0.64402	N	0.000008	T	0.23965	0.0580	M	0.62723	1.935	0.30493	N	0.771131	B;B	0.12013	0.005;0.001	B;B	0.11329	0.006;0.003	T	0.09618	-1.0666	10	0.51188	T	0.08	-24.2189	4.9518	0.14019	0.0:0.2149:0.3072:0.4779	.	458;1125	E9PET9;Q5SRE5	.;NU188_HUMAN	E	1014;1125	ENSP00000361658:D1125E	ENSP00000349125:D1014E	D	+	3	2	NUP188	130800274	0.000000	0.05858	0.006000	0.13384	0.724000	0.41520	-0.719000	0.04974	-0.151000	0.11176	0.561000	0.74099	GAC		0.463	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			4	266	0	0	0	1	0	4	266				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron			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_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_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		5	41	0	0	0	1	0	5	41				
PLXNA1	5361	broad.mit.edu	37	3	126748802	126748802	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:126748802G>C	ENST00000393409.2	+	27	4956	c.4956G>C	c.(4954-4956)aaG>aaC	p.K1652N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.K1629N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1652					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGGCACCAAGCTGTGGCACC	0.657																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4885-4887)aaG>aaC		plexin A1							89.0	86.0	87.0					3																	126748802		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748802G>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4956G>C	3.37:g.126748802G>C	ENSP00000377061:p.Lys1652Asn					PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1652N	p.K1629N			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	27	4956	+			1652						Missense_Mutation	SNP	ENST00000393409.2	37	c.4887G>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141408	0.57044	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.14391	2.51;2.51	3.71	2.81	0.32909	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000004	T	0.39358	0.1075	M	0.90145	3.09	0.53688	D	0.999979	P;D	0.89917	0.87;1.0	P;D	0.97110	0.777;1.0	T	0.28364	-1.0046	10	0.87932	D	0	.	7.4366	0.27158	0.206:0.0:0.794:0.0	.	266;1652	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	N	1652;1629	ENSP00000377061:K1652N;ENSP00000251772:K1629N	ENSP00000251772:K1629N	K	+	3	2	PLXNA1	128231492	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	1.468000	0.35332	0.866000	0.35629	0.313000	0.20887	AAG		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		3	110	0	0	0	1	0	3	110				
C12orf40	283461	broad.mit.edu	37	12	40076514	40076514	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:40076514A>C	ENST00000324616.5	+	8	942	c.788A>C	c.(787-789)aAa>aCa	p.K263T	C12orf40_ENST00000405531.3_Missense_Mutation_p.K263T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K186T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	263										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATTACTGAAAAACACTCAATA	0.353																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(787-789)aAa>aCa		chromosome 12 open reading frame 40							134.0	135.0	134.0					12																	40076514		1840	4087	5927	SO:0001583	missense	283461							g.chr12:40076514A>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.788A>C	12.37:g.40076514A>C	ENSP00000317671:p.Lys263Thr					C12orf40_ENST00000405531.3_Missense_Mutation_p.K263T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K186T	p.K263T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			8	942	+			263					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.788A>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717650	0.30413	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.59083	0.29;0.31	5.26	2.91	0.33838	.	0.925820	0.09127	N	0.844909	T	0.43211	0.1237	L	0.32530	0.975	0.09310	N	1	B	0.27882	0.192	B	0.25759	0.063	T	0.41502	-0.9505	10	0.72032	D	0.01	.	3.6804	0.08308	0.6404:0.2149:0.1447:0.0	.	263	Q86WS4	CL040_HUMAN	T	263;186;263	ENSP00000383897:K263T;ENSP00000317671:K263T	ENSP00000317671:K263T	K	+	2	0	C12orf40	38362781	0.337000	0.24766	0.004000	0.12327	0.012000	0.07955	1.736000	0.38187	1.055000	0.40461	0.482000	0.46254	AAA		0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		3	79	0	0	0	1	0	3	79				
NCKAP1L	3071	broad.mit.edu	37	12	54917243	54917243	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54917243G>A	ENST00000293373.6	+	19	2023	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	NCKAP1L_ENST00000545638.2_Silent_p.R598R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	648					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGAAGCAGAGGCAGACTCCCA	0.522																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1942-1944)agG>agA		NCK-associated protein 1-like							114.0	119.0	117.0					12																	54917243		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917243G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1944G>A	12.37:g.54917243G>A						NCKAP1L_ENST00000545638.2_Silent_p.R598R	p.R648R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			19	2023	+			648					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.1944G>A	CCDS31813.1																																																																																				0.522	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		6	96	0	0	0	1	0	6	96				
PCSK5	5125	broad.mit.edu	37	9	78686647	78686647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78686647C>T	ENST00000545128.1	+	7	1265	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PCSK5_ENST00000376767.3_Nonsense_Mutation_p.R243*|PCSK5_ENST00000376752.4_Nonsense_Mutation_p.R243*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	243	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAAGGAGTGCGAATGCTGGA	0.512																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(727-729)Cga>Tga		proprotein convertase subtilisin/kexin type 5							136.0	132.0	133.0					9																	78686647		2203	4300	6503	SO:0001587	stop_gained	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686647C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.727C>T	9.37:g.78686647C>T	ENSP00000446280:p.Arg243*					PCSK5_ENST00000376752.4_Nonsense_Mutation_p.R243*|PCSK5_ENST00000376767.3_Nonsense_Mutation_p.R243*	p.R243*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			7	1265	+			243			Catalytic.		F5H2G7|Q13527|Q96EP4	Nonsense_Mutation	SNP	ENST00000545128.1	37	c.727C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	42	9.411060	0.99163	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	.	.	.	5.69	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5789	0.68271	0.3833:0.6167:0.0:0.0	.	.	.	.	X	243	.	ENSP00000365943:R243X	R	+	1	2	PCSK5	77876467	0.998000	0.40836	0.559000	0.28332	0.822000	0.46500	3.849000	0.55910	0.271000	0.22005	0.655000	0.94253	CGA		0.512	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	129	0	0	0	1	0	4	129				
PCSK5	5125	broad.mit.edu	37	9	78943022	78943022	+	Silent	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78943022C>T	ENST00000545128.1	+	32	4894	c.4356C>T	c.(4354-4356)aaC>aaT	p.N1452N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1452	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATGGCCAACGAGAAGTGCT	0.592																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4354-4356)aaC>aaT		proprotein convertase subtilisin/kexin type 5							362.0	312.0	327.0					9																	78943022		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78943022C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4356C>T	9.37:g.78943022C>T							p.N1452N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			32	4894	+			674					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.4356C>T	CCDS55320.1																																																																																				0.592	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	343	0	0	0	1	0	15	343				
ADCYAP1R1	117	broad.mit.edu	37	7	31124392	31124392	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:31124392G>C	ENST00000304166.4	+	8	768	c.479G>C	c.(478-480)gGc>gCc	p.G160A	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G160A|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G139A|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G160A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	160					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACACGGTTGGCTACAGCACA	0.562																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(478-480)gGc>gCc		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							298.0	222.0	248.0					7																	31124392		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124392G>C		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.479G>C	7.37:g.31124392G>C	ENSP00000306620:p.Gly160Ala					ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G139A|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G160A|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G160A	p.G160A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			8	768	+			160					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.479G>C	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991500	0.93106	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	D;T;D;D	0.84660	-1.88;-0.13;-1.88;-1.88	5.8	5.8	0.92144	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	M	0.93062	3.375	0.80722	D	1	P;P;P;P;P	0.52316	0.951;0.951;0.952;0.951;0.951	P;D;P;D;D	0.67900	0.818;0.915;0.898;0.954;0.954	D	0.94848	0.8011	10	0.72032	D	0.01	.	17.5569	0.87894	0.0:0.0:1.0:0.0	.	160;160;160;139;160	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	A	160;139;160;160	ENSP00000306620:G160A;ENSP00000387335:G139A;ENSP00000379514:G160A;ENSP00000386395:G160A	ENSP00000306620:G160A	G	+	2	0	ADCYAP1R1	31090917	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.780000	0.99024	2.735000	0.93741	0.655000	0.94253	GGC		0.562	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		5	189	0	0	0	1	0	5	189				
GRB10	2887	broad.mit.edu	37	7	50686969	50686969	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:50686969T>C	ENST00000401949.1	-	9	1144	c.675A>G	c.(673-675)gaA>gaG	p.E225E	GRB10_ENST00000398810.2_Silent_p.E167E|GRB10_ENST00000357271.5_Silent_p.E225E|GRB10_ENST00000406641.1_Silent_p.E167E|GRB10_ENST00000335866.3_Silent_p.E167E|GRB10_ENST00000439599.1_Silent_p.E219E|GRB10_ENST00000402578.1_Silent_p.E167E|GRB10_ENST00000398812.2_Silent_p.E225E|GRB10_ENST00000407526.1_Silent_p.E167E|GRB10_ENST00000402497.1_Silent_p.E167E|GRB10_ENST00000403097.1_Silent_p.E219E			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	225	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCTCATGGTCTTCCAAGCACC	0.443									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(655-657)gaA>gaG		growth factor receptor-bound protein 10							89.0	91.0	90.0					7																	50686969		1988	4171	6159	SO:0001819	synonymous_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50686969T>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.675A>G	7.37:g.50686969T>C						GRB10_ENST00000335866.3_Silent_p.E167E|GRB10_ENST00000439599.1_Silent_p.E219E|GRB10_ENST00000402497.1_Silent_p.E167E|GRB10_ENST00000398812.2_Silent_p.E225E|GRB10_ENST00000407526.1_Silent_p.E167E|GRB10_ENST00000406641.1_Silent_p.E167E|GRB10_ENST00000398810.2_Silent_p.E167E|GRB10_ENST00000357271.5_Silent_p.E225E|GRB10_ENST00000401949.1_Silent_p.E225E|GRB10_ENST00000402578.1_Silent_p.E167E	p.E219E			Q13322	GRB10_HUMAN			8	1437	-	Glioma(55;0.08)|all_neural(89;0.245)		225			Ras-associating.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.657A>G	CCDS43582.1																																																																																				0.443	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			5	101	0	0	0	1	0	5	101				
CYP4Z1	199974	broad.mit.edu	37	1	47533183	47533183	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:47533183G>C	ENST00000334194.3	+	1	24	c.21G>C	c.(19-21)caG>caC	p.Q7H		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	7						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGGCTTCAGGAACTCATGG	0.522																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(19-21)caG>caC		cytochrome P450, family 4, subfamily Z, polypeptide 1							50.0	46.0	48.0					1																	47533183		2203	4298	6501	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47533183G>C	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.21G>C	1.37:g.47533183G>C	ENSP00000334246:p.Gln7His						p.Q7H	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			1	24	+			7					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.21G>C	CCDS545.1	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993865	0.19043	.	.	ENSG00000186160	ENST00000334194	T	0.70164	-0.46	2.99	2.04	0.26737	.	3.808310	0.01903	U	0.039303	T	0.46908	0.1417	N	0.08118	0	0.09310	N	1	P	0.49253	0.921	B	0.39027	0.288	T	0.48990	-0.8985	10	0.54805	T	0.06	.	6.3533	0.21387	0.1509:0.0:0.8491:0.0	.	7	Q86W10	CP4Z1_HUMAN	H	7	ENSP00000334246:Q7H	ENSP00000334246:Q7H	Q	+	3	2	CYP4Z1	47305770	0.004000	0.15560	0.004000	0.12327	0.174000	0.22865	0.526000	0.22971	0.544000	0.28883	0.461000	0.40582	CAG		0.522	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		11	16	0	0	0	1	0	11	16				
OBSCN	84033	broad.mit.edu	37	1	228492063	228492063	+	Intron	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:228492063G>A	ENST00000422127.1	+	44	11703				OBSCN_ENST00000366707.4_Missense_Mutation_p.A1378T|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.A4688T|OBSCN_ENST00000366709.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				AGGGGCCACGGCCACACTGCA	0.582																																						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.(14062-14064)Gcc>Acc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							141.0	124.0	129.0					1																	228492063		876	1991	2867	SO:0001627	intron_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.chr1:228492063G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11660-2010G>A	1.37:g.228492063G>A						OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1378T|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron	p.A4688T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			53	14136	+		Prostate(94;0.0405)	3731			Ig-like 47.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14062G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981232	0.93044	.	.	ENSG00000154358	ENST00000366707	T	0.05996	3.36	4.94	4.03	0.46877	.	.	.	.	.	T	0.14700	0.0355	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01480	-1.1344	6	0.39692	T	0.17	.	13.6653	0.62391	0.0747:0.0:0.9253:0.0	.	.	.	.	T	1378	ENSP00000355668:A1378T	ENSP00000355668:A1378T	A	+	1	0	OBSCN	226558686	0.722000	0.28017	0.001000	0.08648	0.003000	0.03518	4.166000	0.58203	1.308000	0.44962	0.561000	0.74099	GCC		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	147	0	0	0	1	0	7	147				
OR2M7	391196	broad.mit.edu	37	1	248486965	248486965	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:248486965C>A	ENST00000317965.2	-	1	934	c.906G>T	c.(904-906)atG>atT	p.M302I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M302I(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAAGATTTTCATTAATGCTC	0.403																																						ENST00000317965.2																			1	Substitution - Missense(1)	p.M302I(1)	lung(1)	breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(904-906)atG>atT		olfactory receptor, family 2, subfamily M, member 7							66.0	67.0	67.0					1																	248486965		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248486965C>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.906G>T	1.37:g.248486965C>A	ENSP00000324557:p.Met302Ile						p.M302I	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	934	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		302					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.906G>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	7.615	0.675690	0.14841	.	.	ENSG00000177186	ENST00000317965	T	0.35973	1.28	1.88	-0.801	0.10893	.	.	.	.	.	T	0.17492	0.0420	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22941	-1.0202	9	0.52906	T	0.07	.	2.7367	0.05242	0.2407:0.4691:0.0:0.2902	.	302	Q8NG81	OR2M7_HUMAN	I	302	ENSP00000324557:M302I	ENSP00000324557:M302I	M	-	3	0	OR2M7	246553588	0.001000	0.12720	0.006000	0.13384	0.008000	0.06430	-0.152000	0.10159	0.732000	0.32470	0.184000	0.17185	ATG		0.403	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		6	52	1	0	0.000274275	1	0.000279516	6	52				
PRDM1	639	broad.mit.edu	37	6	106553291	106553291	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:106553291G>A	ENST00000369096.4	+	5	1490	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D	PRDM1_ENST00000369089.3_Missense_Mutation_p.G285D|PRDM1_ENST00000369091.2_Missense_Mutation_p.G383D	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	419					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCCCCTACGGCATGAATTGT	0.587			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1255-1257)gGc>gAc		PR domain containing 1, with ZNF domain							75.0	58.0	64.0					6																	106553291		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553291G>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1256G>A	6.37:g.106553291G>A	ENSP00000358092:p.Gly419Asp					PRDM1_ENST00000369089.3_Missense_Mutation_p.G285D|PRDM1_ENST00000369091.2_Missense_Mutation_p.G383D	p.G419D	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1490	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	419					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1256G>A	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407857	0.42715	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07216	3.23;3.21;3.21	5.32	5.32	0.75619	.	0.336949	0.36002	N	0.002858	T	0.04679	0.0127	M	0.63428	1.95	0.37659	D	0.922688	B;B	0.34181	0.236;0.44	B;B	0.30029	0.11;0.075	T	0.27088	-1.0084	10	0.29301	T	0.29	-18.0932	12.8014	0.57588	0.0854:0.0:0.9146:0.0	.	285;419	Q86WM7;O75626	.;PRDM1_HUMAN	D	383;419;383;285	ENSP00000358087:G383D;ENSP00000358092:G419D;ENSP00000358085:G285D	ENSP00000358085:G285D	G	+	2	0	PRDM1	106659984	1.000000	0.71417	0.906000	0.35671	0.966000	0.64601	4.173000	0.58249	2.492000	0.84095	0.655000	0.94253	GGC		0.587	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			8	56	0	0	0	1	0	8	56				
PHC3	80012	broad.mit.edu	37	3	169815126	169815126	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:169815126T>C	ENST00000494943.1	-	15	2912	c.2844A>G	c.(2842-2844)ggA>ggG	p.G948G	PHC3_ENST00000495893.2_Silent_p.G960G			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	948	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAGGGCCTGTCCATCAATCT	0.448																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(2842-2844)ggA>ggG		polyhomeotic homolog 3 (Drosophila)							171.0	167.0	169.0					3																	169815126		2072	4257	6329	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169815126T>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2844A>G	3.37:g.169815126T>C						PHC3_ENST00000495893.1_Silent_p.G960G	p.G948G			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		15	2912	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		948			SAM.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.2844A>G		.	.	.	.	.	.	.	.	.	.	T	9.408	1.079761	0.20309	.	.	ENSG00000173889	ENST00000484068	.	.	.	5.68	3.19	0.36642	.	.	.	.	.	T	0.52693	0.1750	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46721	-0.9171	4	.	.	.	-12.6371	5.1076	0.14793	0.0:0.1557:0.2782:0.5662	.	.	.	.	G	126	.	.	D	-	2	0	PHC3	171297820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.610000	0.24253	0.995000	0.38917	0.482000	0.46254	GAC		0.448	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		3	104	0	0	0	1	0	3	104				
MROH9	80133	broad.mit.edu	37	1	170928725	170928725	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:170928725T>C	ENST00000367758.3	+	5	374	c.275T>C	c.(274-276)aTt>aCt	p.I92T	MROH9_ENST00000367759.4_Missense_Mutation_p.I92T	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	92																	TATGAGTACATTGAGGACATG	0.363																																						ENST00000367759.4																			0											c.(274-276)aTt>aCt		maestro heat-like repeat family member 9							114.0	107.0	109.0					1																	170928725		1853	4103	5956	SO:0001583	missense	80133							g.chr1:170928725T>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.275T>C	1.37:g.170928725T>C	ENSP00000356732:p.Ile92Thr					MROH9_ENST00000367758.3_Missense_Mutation_p.I92T	p.I92T	NM_001163629.1	NP_001157101.1					5	429	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.275T>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	4.376	0.069386	0.08436	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.13778	4.16;2.56	5.61	-6.53	0.01866	.	2.213880	0.01733	N	0.028996	T	0.01320	0.0043	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32693	-0.9897	10	0.17832	T	0.49	11.0206	8.0028	0.30308	0.3112:0.4538:0.0:0.235	.	92;92	F5GWX6;Q5TGP6	.;CA129_HUMAN	T	92	ENSP00000356733:I92T;ENSP00000356732:I92T	ENSP00000356732:I92T	I	+	2	0	C1orf129	169195349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.135000	0.01306	-1.521000	0.01771	-1.027000	0.02421	ATT		0.363	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		6	43	0	0	0	1	0	6	43				
APOBEC3F	200316	broad.mit.edu	37	22	39439012	39439012	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:39439012C>T	ENST00000308521.5	+	2	445	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Missense_Mutation_p.R30W	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	30					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCTTTCTCGTCGGAATACCGT	0.488																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(88-90)Cgg>Tgg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F							62.0	58.0	59.0					22																	39439012		2203	4297	6500	SO:0001583	missense	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39439012C>T	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.88C>T	22.37:g.39439012C>T	ENSP00000309749:p.Arg30Trp					APOBEC3F_ENST00000381565.2_Missense_Mutation_p.R30W|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR	p.R30W	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			2	445	+	Melanoma(58;0.04)		30					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.88C>T	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	7.458	0.644087	0.14451	.	.	ENSG00000128394	ENST00000308521;ENST00000381565	T;T	0.68765	-0.35;1.06	1.82	0.695	0.18070	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.78033	0.4220	M	0.81179	2.53	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.984	T	0.63180	-0.6695	9	0.59425	D	0.04	.	5.2123	0.15325	0.3424:0.6576:0.0:0.0	.	30;30	Q8IUX4;Q6ICH3	ABC3F_HUMAN;.	W	30	ENSP00000309749:R30W;ENSP00000370977:R30W	ENSP00000309749:R30W	R	+	1	2	APOBEC3F	37768958	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.562000	0.05950	0.282000	0.22254	0.561000	0.74099	CGG		0.488	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		5	23	0	0	0	1	0	5	23				
PDZD2	23037	broad.mit.edu	37	5	32090257	32090257	+	Missense_Mutation	SNP	C	C	T	rs147353592	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:32090257C>T	ENST00000438447.1	+	20	7091	c.6703C>T	c.(6703-6705)Cgg>Tgg	p.R2235W	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2235W			O15018	PDZD2_HUMAN	PDZ domain containing 2	2235					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.R2235W(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCATTTTGGACGGGAGGGTCA	0.632																																						ENST00000438447.1																			1	Substitution - Missense(1)	p.R2235W(1)	urinary_tract(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6703-6705)Cgg>Tgg		PDZ domain containing 2		C	TRP/ARG	0,4406		0,0,2203	160.0	173.0	168.0		6703	4.2	1.0	5	dbSNP_134	168	3,8597	2.2+/-6.3	0,3,4297	yes	missense	PDZD2	NM_178140.2	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	2235/2840	32090257	3,13003	2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090257C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6703C>T	5.37:g.32090257C>T	ENSP00000402033:p.Arg2235Trp					PDZD2_ENST00000282493.3_Missense_Mutation_p.R2235W	p.R2235W			O15018	PDZD2_HUMAN			20	7091	+			2235					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.6703C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389537	0.61956	0.0	3.49E-4	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07327	3.2;3.2	5.04	4.15	0.48705	.	0.300128	0.24339	N	0.039397	T	0.14485	0.0350	L	0.59436	1.845	0.33822	D	0.629156	D	0.76494	0.999	P	0.53689	0.732	T	0.09640	-1.0665	10	0.66056	D	0.02	.	6.0917	0.19999	0.0:0.6412:0.2499:0.1089	.	2235	O15018	PDZD2_HUMAN	W	2235;2036;2235	ENSP00000402033:R2235W;ENSP00000282493:R2235W	ENSP00000282493:R2235W	R	+	1	2	PDZD2	32126014	0.999000	0.42202	0.972000	0.41901	0.597000	0.36814	3.260000	0.51523	2.323000	0.78572	0.561000	0.74099	CGG		0.632	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			40	360	0	0	0	1	0	40	360				
MAP1B	4131	broad.mit.edu	37	5	71493611	71493611	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:71493611A>G	ENST00000296755.7	+	5	4727	c.4429A>G	c.(4429-4431)Aaa>Gaa	p.K1477E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1477					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCAAGAAAAGAAAACTGATGA	0.403																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(4429-4431)Aaa>Gaa		microtubule-associated protein 1B							82.0	81.0	81.0					5																	71493611		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493611A>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4429A>G	5.37:g.71493611A>G	ENSP00000296755:p.Lys1477Glu						p.K1477E	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4727	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1477					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4429A>G	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229618	0.39399	.	.	ENSG00000131711	ENST00000296755	T	0.04119	3.7	5.54	4.4	0.53042	.	0.162190	0.43747	D	0.000540	T	0.03827	0.0108	N	0.24115	0.695	0.33746	D	0.619997	B;B	0.10296	0.003;0.001	B;B	0.08055	0.002;0.003	T	0.11036	-1.0604	10	0.48119	T	0.1	-17.0295	8.2401	0.31654	0.8507:0.0:0.1493:0.0	.	1351;1477	A2BDK6;P46821	.;MAP1B_HUMAN	E	1477	ENSP00000296755:K1477E	ENSP00000296755:K1477E	K	+	1	0	MAP1B	71529367	1.000000	0.71417	0.983000	0.44433	0.884000	0.51177	5.635000	0.67841	2.119000	0.64992	0.454000	0.30748	AAA		0.403	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		16	32	0	0	0	1	0	16	32				
PKD1L1	168507	broad.mit.edu	37	7	47920383	47920383	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:47920383T>C	ENST00000289672.2	-	21	3513	c.3463A>G	c.(3463-3465)Aca>Gca	p.T1155A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1155	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCTTGATTGTCACTGTCTGT	0.468																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3463-3465)Aca>Gca		polycystic kidney disease 1 like 1							181.0	140.0	154.0					7																	47920383		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47920383T>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3463A>G	7.37:g.47920383T>C	ENSP00000289672:p.Thr1155Ala						p.T1155A	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			21	3513	-			1155			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3463A>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661784	0.47572	.	.	ENSG00000158683	ENST00000289672	T	0.68765	-0.35	4.43	4.43	0.53597	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.316248	0.25741	N	0.028601	T	0.72187	0.3429	L	0.59436	1.845	0.24382	N	0.994781	D	0.56968	0.978	P	0.57620	0.824	T	0.64093	-0.6488	10	0.42905	T	0.14	-10.5118	10.4175	0.44331	0.0:0.0:0.0:1.0	.	1155	Q8TDX9	PK1L1_HUMAN	A	1155	ENSP00000289672:T1155A	ENSP00000289672:T1155A	T	-	1	0	PKD1L1	47886908	0.999000	0.42202	0.843000	0.33291	0.180000	0.23129	3.387000	0.52501	1.792000	0.52537	0.529000	0.55759	ACA		0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		3	83	0	0	0	1	0	3	83				
NPHS1	4868	broad.mit.edu	37	19	36340183	36340183	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:36340183G>A	ENST00000378910.5	-	7	794	c.795C>T	c.(793-795)tgC>tgT	p.C265C	NPHS1_ENST00000353632.6_Silent_p.C265C|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	265	Ig-like C2-type 3.		C -> R (in NPHS1). {ECO:0000269|PubMed:17290294}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGCCACGCACGGCAGCT	0.657																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(793-795)tgC>tgT		nephrosis 1, congenital, Finnish type (nephrin)							28.0	27.0	27.0					19																	36340183		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340183G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.795C>T	19.37:g.36340183G>A						NPHS1_ENST00000353632.6_Silent_p.C265C	p.C265C	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	794	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		265		C -> R (in NPHS1).	Ig-like C2-type 3.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.795C>T	CCDS32996.1																																																																																				0.657	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			13	31	0	0	0	1	0	13	31				
PCSK5	5125	broad.mit.edu	37	9	78790066	78790066	+	Intron	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78790066A>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.T641A|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTCCAGTGGGACACAGGCTAA	0.478																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1921-1923)Aca>Gca		proprotein convertase subtilisin/kexin type 5							81.0	78.0	79.0					9																	78790066		2203	4300	6503	SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790066A>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+21A>G	9.37:g.78790066A>G						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.T641A			Q92824	PCSK5_HUMAN			14	2433	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1921A>G	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.802064	0.31869	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.68479	-0.33	4.83	-1.63	0.08345	.	.	.	.	.	T	0.45637	0.1352	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.21381	-1.0247	8	0.31617	T	0.26	.	4.0236	0.09677	0.5223:0.0:0.3117:0.166	.	641	B1AMG5	.	A	641	ENSP00000365958:T641A	ENSP00000365958:T641A	T	+	1	0	PCSK5	77979886	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.056000	0.14256	-0.347000	0.08299	0.528000	0.53228	ACA		0.478	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	68	0	0	0	1	0	4	68				
TMEM175	84286	broad.mit.edu	37	4	944293	944293	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:944293G>C	ENST00000264771.4	+	4	462	c.277G>C	c.(277-279)Gca>Cca	p.A93P	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.A11P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	93						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGTGGCCTGGGCAGCACACAC	0.597																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(277-279)Gca>Cca		transmembrane protein 175							84.0	79.0	81.0					4																	944293		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:944293G>C	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.277G>C	4.37:g.944293G>C	ENSP00000264771:p.Ala93Pro					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.A11P|TMEM175_ENST00000515740.1_5'UTR	p.A93P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	462	+			93					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.277G>C	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970715	0.53614	.	.	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000508204;ENST00000510493;ENST00000514546	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.38	2.53	0.30540	.	0.149518	0.44285	D	0.000475	T	0.56411	0.1983	L	0.60455	1.87	0.37655	D	0.92257	D;D;D	0.69078	0.971;0.977;0.997	P;P;D	0.68621	0.9;0.816;0.959	T	0.56098	-0.8035	10	0.33940	T	0.23	-8.4511	6.6108	0.22751	0.2398:0.0:0.7602:0.0	.	11;93;11	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	P	92;93;80;11;11;11;11;11;93	ENSP00000424746:A92P;ENSP00000264771:A93P;ENSP00000425181:A80P;ENSP00000425867:A11P;ENSP00000421750:A11P;ENSP00000423669:A11P;ENSP00000424208:A11P;ENSP00000425763:A93P	ENSP00000264771:A93P	A	+	1	0	TMEM175	934293	1.000000	0.71417	0.714000	0.30535	0.263000	0.26337	4.418000	0.59828	0.437000	0.26423	0.549000	0.68633	GCA		0.597	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		10	92	0	0	0	1	0	10	92				
TRIM24	8805	broad.mit.edu	37	7	138268733	138268733	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:138268733G>A	ENST00000343526.4	+	18	3147	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E944K			O15164	TIF1A_HUMAN	tripartite motif containing 24	978	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAACTGTGCTGAATTCAATGA	0.388																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(2932-2934)Gaa>Aaa		tripartite motif containing 24							75.0	85.0	82.0					7																	138268733		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138268733G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2932G>A	7.37:g.138268733G>A	ENSP00000340507:p.Glu978Lys					TRIM24_ENST00000415680.2_Missense_Mutation_p.E944K	p.E978K			O15164	TIF1A_HUMAN			18	3147	+			978			Bromo.		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2932G>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105636	0.37145	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680	T;T	0.27557	1.66;1.66	5.85	5.85	0.93711	Bromodomain (6);Bromodomain, conserved site (1);	0.136846	0.64402	D	0.000003	T	0.11367	0.0277	N	0.00754	-1.215	0.58432	D	0.999999	B;B	0.23591	0.088;0.016	B;B	0.24394	0.053;0.031	T	0.30504	-0.9976	10	0.02654	T	1	-26.1559	19.7539	0.96283	0.0:0.0:1.0:0.0	.	978;944	O15164;O15164-2	TIF1A_HUMAN;.	K	978;370;889;944	ENSP00000340507:E978K;ENSP00000390829:E944K	ENSP00000340507:E978K	E	+	1	0	TRIM24	137919273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.976000	0.63785	2.770000	0.95276	0.563000	0.77884	GAA		0.388	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		3	60	0	0	0	1	0	3	60				
PHB	5245	broad.mit.edu	37	17	47486775	47486775	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:47486775G>A	ENST00000300408.3	-	4	383	c.311C>T	c.(310-312)cCt>cTt	p.P104L	PHB_ENST00000511832.1_Missense_Mutation_p.P104L|PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	104					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAAGATGCGAGGAAGCTGGCT	0.512																																						ENST00000300408.3																			0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(310-312)cCt>cTt		prohibitin							88.0	85.0	86.0					17																	47486775		2203	4300	6503	SO:0001583	missense	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47486775G>A		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.311C>T	17.37:g.47486775G>A	ENSP00000300408:p.Pro104Leu					RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Missense_Mutation_p.P104L|PHB_ENST00000508009.1_5'UTR	p.P104L	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		4	383	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		104					B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	c.311C>T	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440032	0.83993	.	.	ENSG00000167085	ENST00000300408;ENST00000511832;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735;ENST00000434917	D;D;D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52	5.07	5.07	0.68467	.	0.050697	0.85682	D	0.000000	D	0.97876	0.9302	M	0.92077	3.27	0.80722	D	1	D	0.59767	0.986	D	0.70487	0.969	D	0.99044	1.0825	10	0.87932	D	0	.	18.026	0.89269	0.0:0.0:1.0:0.0	.	104	P35232	PHB_HUMAN	L	104	ENSP00000300408:P104L;ENSP00000425035:P104L;ENSP00000393320:P104L;ENSP00000426433:P104L;ENSP00000422182:P104L;ENSP00000407828:P104L;ENSP00000410680:P104L	ENSP00000300408:P104L	P	-	2	0	PHB	44841774	1.000000	0.71417	0.628000	0.29241	0.580000	0.36256	9.775000	0.98995	2.350000	0.79820	0.462000	0.41574	CCT		0.512	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		3	137	0	0	0	1	0	3	137				
ABCA6	23460	broad.mit.edu	37	17	67080574	67080574	+	Splice_Site	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:67080574T>C	ENST00000284425.2	-	33	4433	c.4259A>G	c.(4258-4260)aAg>aGg	p.K1420R	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1420	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGCACGTACCTTTCTCGTGAT	0.453																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.e33+1		ATP-binding cassette, sub-family A (ABC1), member 6							355.0	306.0	323.0					17																	67080574		2203	4300	6503	SO:0001630	splice_region_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67080574T>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4260+1A>G	17.37:g.67080574T>C						ABCA6_ENST00000446604.2_5'UTR	p.K1420_splice	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			33	4433	-	Breast(10;5.65e-12)		1420			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Splice_Site	SNP	ENST00000284425.2	37	c.4260_splice	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066577	0.55539	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.06608	3.28	5.7	3.43	0.39272	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.241301	0.28566	N	0.014891	T	0.11537	0.0281	N	0.25094	0.71	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.06881	-1.0802	10	0.87932	D	0	.	7.1555	0.25635	0.2783:0.0:0.1242:0.5975	.	1420	Q8N139	ABCA6_HUMAN	R	1420;280	ENSP00000284425:K1420R	ENSP00000284425:K1420R	K	-	2	0	ABCA6	64592169	1.000000	0.71417	0.970000	0.41538	0.266000	0.26442	3.973000	0.56845	0.386000	0.24997	0.533000	0.62120	AAG		0.453	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Missense_Mutation	126	286	0	0	0	1	0	126	286				
ASTN2	23245	broad.mit.edu	37	9	119413978	119413978	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:119413978G>A	ENST00000313400.4	-	17	3001	c.2901C>T	c.(2899-2901)gaC>gaT	p.D967D	ASTN2_ENST00000358637.4_Silent_p.D19D|ASTN2_ENST00000373996.3_Silent_p.D963D|ASTN2_ENST00000361477.3_Silent_p.D19D|ASTN2_ENST00000288520.5_Silent_p.D68D|ASTN2_ENST00000361209.2_Silent_p.D916D|ASTN2_ENST00000341734.4_Silent_p.D19D			O75129	ASTN2_HUMAN	astrotactin 2	967					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						AAATGAGCTGGTCATCTGACA	0.582																																						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.(2899-2901)gaC>gaT		astrotactin 2							103.0	91.0	95.0					9																	119413978		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119413978G>A	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.2901C>T	9.37:g.119413978G>A						ASTN2_ENST00000358637.4_Silent_p.D19D|ASTN2_ENST00000341734.4_Silent_p.D19D|ASTN2_ENST00000361477.3_Silent_p.D19D|ASTN2_ENST00000361209.2_Silent_p.D916D|ASTN2_ENST00000373996.3_Silent_p.D963D|ASTN2_ENST00000288520.5_Silent_p.D68D	p.D967D			O75129	ASTN2_HUMAN			17	3001	-			967					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.2901C>T																																																																																					0.582	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		5	109	0	0	0	1	0	5	109				
ZNF512B	57473	broad.mit.edu	37	20	62598777	62598777	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:62598777T>C	ENST00000450537.1	-	3	281	c.221A>G	c.(220-222)aAg>aGg	p.K74R	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(220-222)aAg>aGg		zinc finger protein 512B							132.0	131.0	131.0					20																	62598777		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598777T>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.221A>G	20.37:g.62598777T>C	ENSP00000393795:p.Lys74Arg					ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R|ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R	p.K74R			Q96KM6	Z512B_HUMAN			3	281	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		74					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.221A>G	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861503	0.91433	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.50813	0.73;0.73;0.73	5.37	5.37	0.77165	.	0.052827	0.64402	D	0.000001	T	0.54351	0.1853	L	0.29908	0.895	0.35311	D	0.783854	D	0.76494	0.999	D	0.63283	0.913	T	0.67473	-0.5662	10	0.87932	D	0	-24.5009	13.9406	0.64052	0.0:0.0:0.0:1.0	.	74	Q96KM6	Z512B_HUMAN	R	74	ENSP00000358904:K74R;ENSP00000393795:K74R;ENSP00000217130:K74R	ENSP00000217130:K74R	K	-	2	0	ZNF512B	62069221	1.000000	0.71417	0.995000	0.50966	0.824000	0.46624	6.885000	0.75606	2.032000	0.59987	0.459000	0.35465	AAG		0.632	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		4	150	0	0	0	1	0	4	150				
PRAMEF11	440560	broad.mit.edu	37	1	12885051	12885051	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:12885051T>C	ENST00000535591.1	-	4	1255	c.1060A>G	c.(1060-1062)Acc>Gcc	p.T354A	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	354					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(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTCCAGGGTGGCCATGCAG	0.532																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1060-1062)Acc>Gcc		PRAME family member 11							34.0	29.0	31.0					1																	12885051		692	1588	2280	SO:0001583	missense	440560							g.chr1:12885051T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1060A>G	1.37:g.12885051T>C	ENSP00000439551:p.Thr354Ala						p.T354A	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1255	-			354						Missense_Mutation	SNP	ENST00000535591.1	37	c.1060A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.035765	0.00406	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.08634	3.07;3.07	1.52	-0.681	0.11342	.	2.132850	0.01994	N	0.045767	T	0.02571	0.0078	N	0.01505	-0.83	0.09310	N	1	B	0.21753	0.06	B	0.17433	0.018	T	0.35748	-0.9776	10	0.02654	T	1	.	4.1238	0.10118	0.0:0.5567:0.0:0.4433	.	354	O60813	PRA11_HUMAN	A	354;395;354	ENSP00000439551:T354A;ENSP00000391839:T354A	ENSP00000328783:T395A	T	-	1	0	PRAMEF11	12807638	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.493000	0.06459	-0.190000	0.10465	-0.534000	0.04291	ACC		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		12	163	0	0	0	1	0	12	163				
KRT17	3872	broad.mit.edu	37	17	39779208	39779208	+	Missense_Mutation	SNP	C	C	T	rs560599599		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39779208C>T	ENST00000311208.8	-	2	576	c.509G>A	c.(508-510)cGc>cAc	p.R170H	JUP_ENST00000540235.1_Missense_Mutation_p.R329H	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	170	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TCACTTGGTGCGGAAGTCATC	0.587													c|||	1	0.000199681	0.0	0.0	5008	,	,		19918	0.0		0.0	False		,,,				2504	0.001				Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(985-987)cGc>cAc		junction plakoglobin							109.0	94.0	99.0					17																	39779208		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39779208C>T	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.509G>A	17.37:g.39779208C>T	ENSP00000308452:p.Arg170His					KRT17_ENST00000311208.8_Missense_Mutation_p.R170H	p.R329H			P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	5	985	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.986G>A	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734773	0.89482	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.91180	-2.8;-2.8	4.33	4.33	0.51752	Filament (1);	0.000000	0.43919	D	0.000513	D	0.92763	0.7699	H	0.94925	3.6	0.30134	N	0.804527	B	0.26708	0.157	B	0.29524	0.103	D	0.91201	0.4991	10	0.66056	D	0.02	.	11.9368	0.52878	0.0:0.9154:0.0:0.0846	.	170	Q04695	K1C17_HUMAN	H	170;329	ENSP00000308452:R170H;ENSP00000441751:R329H	ENSP00000441751:R329H	R	-	2	0	JUP;KRT17	37032734	0.927000	0.31430	0.993000	0.49108	0.995000	0.86356	2.043000	0.41231	2.420000	0.82092	0.561000	0.74099	CGC		0.587	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		7	163	0	0	0	1	0	7	163				
PURB	5814	broad.mit.edu	37	7	44924053	44924053	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:44924053C>T	ENST00000395699.2	-	1	907	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	299					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(895-897)Ggc>Agc		purine-rich element binding protein B							72.0	77.0	76.0					7																	44924053		2203	4300	6503	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924053C>T		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.895G>A	7.37:g.44924053C>T	ENSP00000379051:p.Gly299Ser						p.G299S	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	907	-			299					A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.895G>A	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923148	0.52653	.	.	ENSG00000146676	ENST00000395699	T	0.29655	1.56	3.06	3.06	0.35304	.	0.137657	0.27549	U	0.018864	T	0.31104	0.0786	N	0.14661	0.345	0.35690	D	0.81476	D	0.89917	1.0	D	0.65684	0.937	T	0.19063	-1.0317	10	0.16896	T	0.51	.	12.3432	0.55105	0.0:1.0:0.0:0.0	.	299	Q96QR8	PURB_HUMAN	S	299	ENSP00000379051:G299S	ENSP00000379051:G299S	G	-	1	0	PURB	44890578	0.980000	0.34600	0.998000	0.56505	0.984000	0.73092	3.212000	0.51145	1.998000	0.58463	0.591000	0.81541	GGC		0.587	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		5	212	0	0	0	1	0	5	212				
PSG6	5675	broad.mit.edu	37	19	43411958	43411958	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:43411958T>C	ENST00000292125.2	-	4	799	c.755A>G	c.(754-756)gAg>gGg	p.E252G	PSG6_ENST00000187910.2_Missense_Mutation_p.E252G|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	252	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATCCTTCTTCTCCCTGGGGTT	0.502																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(754-756)gAg>gGg		pregnancy specific beta-1-glycoprotein 6							290.0	276.0	281.0					19																	43411958		2201	4298	6499	SO:0001583	missense	5675							g.chr19:43411958T>C		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.755A>G	19.37:g.43411958T>C	ENSP00000292125:p.Glu252Gly					PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.E252G	p.E252G	NM_001031850.3	NP_001027020.1					4	820	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.755A>G	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	10.43	1.348532	0.24426	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.36699	1.24;1.26	1.42	1.42	0.22433	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66577	0.2803	H	0.96970	3.915	0.18873	N	0.999988	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.52990	-0.8501	9	0.51188	T	0.08	.	4.9767	0.14144	0.0:0.0:0.0:1.0	.	252;252	Q00889;Q00889-2	PSG6_HUMAN;.	G	252	ENSP00000187910:E252G;ENSP00000292125:E252G	ENSP00000187910:E252G	E	-	2	0	PSG6	48103798	0.009000	0.17119	0.006000	0.13384	0.029000	0.11900	0.768000	0.26590	0.660000	0.30964	0.113000	0.15668	GAG		0.502	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		5	219	0	0	0	1	0	5	219				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	52	0	0	0	1	0	23	52				
ISYNA1	51477	broad.mit.edu	37	19	18545911	18545911	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:18545911G>A	ENST00000338128.8	-	11	1706	c.1489C>T	c.(1489-1491)Ccg>Tcg	p.P497S	ISYNA1_ENST00000578963.1_Missense_Mutation_p.P369S|ISYNA1_ENST00000457269.4_Missense_Mutation_p.P443S|ISYNA1_ENST00000317018.6_Missense_Mutation_p.P295S|ISYNA1_ENST00000545187.1_Missense_Mutation_p.P347S	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	497					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTCTGTGGCGGGAGCCCCACG	0.627																																						ENST00000545187.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.(1039-1041)Ccg>Tcg		inositol-3-phosphate synthase 1							41.0	40.0	41.0					19																	18545911		2203	4299	6502	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18545911G>A		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1489C>T	19.37:g.18545911G>A	ENSP00000337746:p.Pro497Ser					ISYNA1_ENST00000338128.7_Missense_Mutation_p.P497S|ISYNA1_ENST00000578963.1_Missense_Mutation_p.P369S|ISYNA1_ENST00000317018.6_Missense_Mutation_p.P295S|ISYNA1_ENST00000457269.3_Missense_Mutation_p.P443S	p.P347S			Q9NPH2	INO1_HUMAN			8	1325	-			497					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.1039C>T	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917283	0.33815	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.09	2.96	0.34315	.	0.068022	0.64402	D	0.000014	T	0.34250	0.0891	L	0.39245	1.2	0.47949	D	0.999555	B;B;P;B	0.35982	0.106;0.079;0.531;0.07	B;B;B;B	0.26969	0.018;0.058;0.075;0.03	T	0.24693	-1.0153	9	0.44086	T	0.13	-35.9399	6.2493	0.20837	0.1112:0.1911:0.6977:0.0	.	295;443;497;347	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	S	497;443;347;295	.	ENSP00000315147:P295S	P	-	1	0	ISYNA1	18406911	0.994000	0.37717	0.978000	0.43139	0.538000	0.34931	2.494000	0.45329	2.023000	0.59567	0.561000	0.74099	CCG		0.627	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		3	57	0	0	0	1	0	3	57				
TTN	7273	broad.mit.edu	37	2	179431332	179431332	+	Silent	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179431332A>G	ENST00000591111.1	-	276	74828	c.74604T>C	c.(74602-74604)ggT>ggC	p.G24868G	TTN_ENST00000589042.1_Silent_p.G26509G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G23941G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G17636G|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.G17569G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.G17444G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24868	Fibronectin type-III 81. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGGGTTTACCCCAGGCAA	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(79525-79527)ggT>ggC		titin							192.0	192.0	192.0					2																	179431332		1865	4096	5961	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431332A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74604T>C	2.37:g.179431332A>G						TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.G17636G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.G24868G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.G23941G|TTN_ENST00000359218.5_Silent_p.G17569G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.G17444G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.G26509G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79751	-			24868					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.79527T>C																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	191	0	0	0	1	0	4	191				
FLG2	388698	broad.mit.edu	37	1	152323513	152323513	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:152323513C>G	ENST00000388718.5	-	3	6821	c.6749G>C	c.(6748-6750)aGa>aCa	p.R2250T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2250					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCCCCTTCTTCCAGTTGT	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6748-6750)aGa>aCa		filaggrin family member 2							362.0	341.0	348.0					1																	152323513		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323513C>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6749G>C	1.37:g.152323513C>G	ENSP00000373370:p.Arg2250Thr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.R2250T	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6821	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2250					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6749G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745630	0.15710	.	.	ENSG00000143520	ENST00000388718	T	0.09538	2.97	3.93	2.02	0.26589	.	.	.	.	.	T	0.12689	0.0308	M	0.81942	2.565	0.09310	N	1	D	0.67145	0.996	D	0.75020	0.985	T	0.14337	-1.0476	9	0.13470	T	0.59	-4.6618	6.8023	0.23758	0.0:0.7693:0.0:0.2307	.	2250	Q5D862	FILA2_HUMAN	T	2250	ENSP00000373370:R2250T	ENSP00000373370:R2250T	R	-	2	0	FLG2	150590137	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.414000	0.07114	0.438000	0.26450	0.549000	0.68633	AGA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		14	638	0	0	0	1	0	14	638				
SCYL3	57147	broad.mit.edu	37	1	169823532	169823532	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:169823532A>G	ENST00000367770.1	-	12	2095	c.2048T>C	c.(2047-2049)aTt>aCt	p.I683T	SCYL3_ENST00000367771.6_Missense_Mutation_p.I629T|SCYL3_ENST00000367772.4_Missense_Mutation_p.I683T			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	683	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAGGCTTAATTTCTGGGAT	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2047-2049)aTt>aCt		SCY1-like 3 (S. cerevisiae)							135.0	139.0	138.0					1																	169823532		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169823532A>G	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.2048T>C	1.37:g.169823532A>G	ENSP00000356744:p.Ile683Thr					SCYL3_ENST00000367770.1_Missense_Mutation_p.I683T|SCYL3_ENST00000367771.5_Missense_Mutation_p.I629T	p.I683T	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			13	2245	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		683			Interaction with EZR.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.2048T>C	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.510162	0.85282	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770	T;T;T	0.60171	0.21;0.21;0.21	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.991	T	0.73953	-0.3820	10	0.87932	D	0	-24.0871	15.7969	0.78420	1.0:0.0:0.0:0.0	.	275;629;683	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	T	683;629;683	ENSP00000356746:I683T;ENSP00000356745:I629T;ENSP00000356744:I683T	ENSP00000356744:I683T	I	-	2	0	SCYL3	168090156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.919000	0.92770	2.207000	0.71202	0.533000	0.62120	ATT		0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		6	109	0	0	0	1	0	6	109				
ITGAM	3684	broad.mit.edu	37	16	31308840	31308840	+	Silent	SNP	C	C	T	rs369936883		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:31308840C>T	ENST00000287497.8	+	13	1437	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	ITGAM_ENST00000544665.3_Silent_p.G454G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	454					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCAGATCGGCGCCTACTTCG	0.582																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1360-1362)ggC>ggT		integrin, alpha M (complement component 3 receptor 3 subunit)		C	,	1,4379	2.1+/-5.4	0,1,2189	119.0	130.0	126.0		1362,1362	1.8	1.0	16		126	0,8578		0,0,4289	no	coding-synonymous,coding-synonymous	ITGAM	NM_000632.3,NM_001145808.1	,	0,1,6478	TT,TC,CC		0.0,0.0228,0.0077	,	454/1153,454/1154	31308840	1,12957	2190	4289	6479	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308840C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1362C>T	16.37:g.31308840C>T						ITGAM_ENST00000287497.8_Silent_p.G454G	p.G454G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			13	1433	+			454					Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1362C>T	CCDS45470.1																																																																																				0.582	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		6	228	0	0	0	1	0	6	228				
TRIM9	114088	broad.mit.edu	37	14	51446210	51446210	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:51446210T>C	ENST00000298355.3	-	9	3086	c.1965A>G	c.(1963-1965)agA>agG	p.R655R	TRIM9_ENST00000338969.5_Silent_p.R736R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	655	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCAAGTTTTTTCTATTTAAGT	0.453																																						ENST00000298355.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1963-1965)agA>agG		tripartite motif containing 9							197.0	215.0	209.0					14																	51446210		2203	4300	6503	SO:0001819	synonymous_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51446210T>C	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1965A>G	14.37:g.51446210T>C						TRIM9_ENST00000338969.5_Silent_p.R736R	p.R655R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			9	3086	-	all_epithelial(31;0.00418)|Breast(41;0.148)		655			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	c.1965A>G	CCDS9703.1																																																																																				0.453	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		11	186	0	0	0	1	0	11	186				
SEMA6D	80031	broad.mit.edu	37	15	48052514	48052514	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:48052514T>A	ENST00000316364.5	+	3	562	c.123T>A	c.(121-123)taT>taA	p.Y41*	SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000355997.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558816.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389425.3_Nonsense_Mutation_p.Y41*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	41	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAGGCAATATCCGGTTTTTA	0.418																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(121-123)taT>taA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							101.0	91.0	94.0					15																	48052514		2198	4297	6495	SO:0001587	stop_gained	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48052514T>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.123T>A	15.37:g.48052514T>A	ENSP00000324857:p.Tyr41*					SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000355997.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389425.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558816.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.Y41*	p.Y41*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	3	562	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	41			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Nonsense_Mutation	SNP	ENST00000316364.5	37	c.123T>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	T	39	7.305995	0.98200	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	.	.	.	5.76	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2119	0.48804	0.0:0.0711:0.0:0.9289	.	.	.	.	X	41	.	ENSP00000324857:Y41X	Y	+	3	2	SEMA6D	45839806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.787000	0.55439	2.202000	0.70862	0.533000	0.62120	TAT		0.418	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		3	53	0	0	0	1	0	3	53				
MSL3	10943	broad.mit.edu	37	X	11783854	11783854	+	Intron	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:11783854T>C	ENST00000312196.4	+	9	1276				MSL3_ENST00000380693.3_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000398527.2_Intron|MSL3_ENST00000337339.2_Missense_Mutation_p.F393L|MSL3_ENST00000361672.2_Intron	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AAAGAGTAGGTTCATTCTCGG	0.587																																						ENST00000337339.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1177-1179)Ttc>Ctc		male-specific lethal 3 homolog (Drosophila)							107.0	92.0	97.0					X																	11783854		2203	4300	6503	SO:0001627	intron_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783854T>C	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1171+6T>C	X.37:g.11783854T>C						MSL3_ENST00000312196.4_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000380693.3_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000398527.2_Intron	p.F393L	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			9	1204	+			0					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1177T>C	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	T	6.813	0.519126	0.13005	.	.	ENSG00000005302	ENST00000337339	T	0.05855	3.38	4.32	4.32	0.51571	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	8	.	.	.	.	13.0401	0.58895	0.0:0.0:0.0:1.0	.	393	A6NHW8	.	L	393	ENSP00000338078:F393L	.	F	+	1	0	MSL3	11693775	0.998000	0.40836	0.915000	0.36163	0.812000	0.45895	2.345000	0.44018	1.515000	0.48885	0.486000	0.48141	TTC		0.587	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		22	100	0	0	0	1	0	22	100				
CWH43	80157	broad.mit.edu	37	4	49000535	49000535	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:49000535C>G	ENST00000226432.4	+	6	955	c.772C>G	c.(772-774)Cgt>Ggt	p.R258G	CWH43_ENST00000513409.1_Missense_Mutation_p.R231G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	258					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTGTGGTTTCGTGGTACTGG	0.443																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(772-774)Cgt>Ggt		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							561.0	430.0	474.0					4																	49000535		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49000535C>G		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.772C>G	4.37:g.49000535C>G	ENSP00000226432:p.Arg258Gly					CWH43_ENST00000513409.1_Missense_Mutation_p.R231G	p.R258G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			6	955	+			258					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.772C>G	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	C	0.228	-1.023471	0.02061	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.44881	1.48;0.91	4.16	2.42	0.29668	.	0.756295	0.11956	N	0.513270	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21621	-1.0240	9	.	.	.	.	3.2787	0.06907	0.1837:0.5149:0.0:0.3013	.	258	Q9H720	PG2IP_HUMAN	G	258;231	ENSP00000226432:R258G;ENSP00000422802:R231G	.	R	+	1	0	CWH43	48695292	0.058000	0.20735	0.356000	0.25785	0.008000	0.06430	0.130000	0.15850	0.701000	0.31803	0.591000	0.81541	CGT		0.443	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		11	126	0	0	0	1	0	11	126				
ASXL3	80816	broad.mit.edu	37	18	31325552	31325552	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:31325552G>C	ENST00000269197.5	+	12	5740	c.5740G>C	c.(5740-5742)Gac>Cac	p.D1914H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1914					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTTCATGTTGACAAGAATGG	0.532																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5740-5742)Gac>Cac		additional sex combs like 3 (Drosophila)							103.0	106.0	105.0					18																	31325552		1985	4150	6135	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325552G>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5740G>C	18.37:g.31325552G>C	ENSP00000269197:p.Asp1914His						p.D1914H	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5740	+			1914					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5740G>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803142	0.50315	.	.	ENSG00000141431	ENST00000269197	T	0.19669	2.13	5.59	4.71	0.59529	.	.	.	.	.	T	0.23094	0.0558	N	0.19112	0.55	0.33088	D	0.537568	D	0.61697	0.99	P	0.52031	0.688	T	0.30851	-0.9964	9	0.72032	D	0.01	.	13.5689	0.61834	0.0758:0.0:0.9242:0.0	.	1914	Q9C0F0	ASXL3_HUMAN	H	1914	ENSP00000269197:D1914H	ENSP00000269197:D1914H	D	+	1	0	ASXL3	29579550	1.000000	0.71417	0.856000	0.33681	0.881000	0.50899	5.402000	0.66332	1.323000	0.45263	0.655000	0.94253	GAC		0.532	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			4	105	0	0	0	1	0	4	105				
TNC	3371	broad.mit.edu	37	9	117849482	117849482	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:117849482G>A	ENST00000350763.4	-	3	939	c.528C>T	c.(526-528)tgC>tgT	p.C176C	TNC_ENST00000542877.1_Silent_p.C176C|TNC_ENST00000537320.1_Silent_p.C176C|TNC_ENST00000535648.1_Silent_p.C176C|TNC_ENST00000345230.3_Silent_p.C176C|TNC_ENST00000423613.2_Silent_p.C176C|TNC_ENST00000341037.4_Silent_p.C176C|TNC_ENST00000340094.3_Silent_p.C176C|TNC_ENST00000346706.3_Silent_p.C176C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	176	EGF-like 1; incomplete. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.C176C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCAGGTTCGCAGACACAGC	0.582																																						ENST00000350763.4																			1	Substitution - coding silent(1)	p.C176C(1)	large_intestine(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(526-528)tgC>tgT		tenascin C							82.0	76.0	78.0					9																	117849482		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849482G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.528C>T	9.37:g.117849482G>A						TNC_ENST00000423613.2_Silent_p.C176C|TNC_ENST00000535648.1_Silent_p.C176C|TNC_ENST00000542877.1_Silent_p.C176C|TNC_ENST00000341037.4_Silent_p.C176C|TNC_ENST00000345230.3_Silent_p.C176C|TNC_ENST00000340094.3_Silent_p.C176C|TNC_ENST00000537320.1_Silent_p.C176C|TNC_ENST00000346706.3_Silent_p.C176C	p.C176C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	939	-			176			EGF-like 1; incomplete.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.528C>T	CCDS6811.1																																																																																				0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		4	141	0	0	0	1	0	4	141				
MKI67	4288	broad.mit.edu	37	10	129923863	129923863	+	Missense_Mutation	SNP	G	G	C	rs549241601		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:129923863G>C	ENST00000368654.3	-	2	444	c.69C>G	c.(67-69)agC>agG	p.S23R	MKI67_ENST00000368653.3_Missense_Mutation_p.S23R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	23					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTGCTGAGGCTCAGGGGAA	0.517																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(67-69)agC>agG		marker of proliferation Ki-67							79.0	91.0	87.0					10																	129923863		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129923863G>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.69C>G	10.37:g.129923863G>C	ENSP00000357643:p.Ser23Arg					MKI67_ENST00000368653.3_Missense_Mutation_p.S23R	p.S23R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			2	444	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	23					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.69C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492886	0.44352	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652;ENST00000538447	T;T	0.01335	5.0;5.08	3.91	0.642	0.17765	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.366803	0.24226	N	0.040393	T	0.02571	0.0078	L	0.34521	1.04	0.09310	N	1	D;P	0.71674	0.998;0.936	D;B	0.65684	0.937;0.262	T	0.47446	-0.9117	9	.	.	.	.	3.6319	0.08135	0.4371:0.1961:0.3669:0.0	.	23;23	P46013-2;P46013	.;KI67_HUMAN	R	23	ENSP00000357643:S23R;ENSP00000357642:S23R	.	S	-	3	2	MKI67	129813853	1.000000	0.71417	0.153000	0.22517	0.272000	0.26649	0.889000	0.28282	0.039000	0.15632	0.655000	0.94253	AGC		0.517	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		11	104	0	0	0	1	0	11	104				
TUBB8P7	197331	broad.mit.edu	37	16	90162379	90162379	+	RNA	SNP	A	A	G	rs567541195	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:90162379A>G	ENST00000564451.1	+	0	1732				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGGGAATAATACGGCCATCCA	0.522													.|||	3	0.000599042	0.0	0.0043	5008	,	,		20782	0.0		0.0	False		,,,				2504	0.0					ENST00000567960.1																			0																																																			0							g.chr16:90162379A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162379A>G						TUBB8P7_ENST00000564451.1_RNA								0	1115	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	137	0	0	0	1	0	4	137				
RASGRF1	5923	broad.mit.edu	37	15	79296193	79296193	+	Silent	SNP	G	G	A	rs111385391	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:79296193G>A	ENST00000419573.3	-	16	2722	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000558480.2_Silent_p.G800G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	816					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTCGTATCGCCCTCATCTG	0.612													G|||	24	0.00479233	0.0	0.0014	5008	,	,		18754	0.0		0.004	False		,,,				2504	0.0194					ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2446-2448)ggC>ggT		Ras protein-specific guanine nucleotide-releasing factor 1		G	,,	5,4387	9.9+/-24.2	0,5,2191	57.0	47.0	51.0		2400,2448,96	-9.9	0.0	15	dbSNP_132	51	33,8553	22.8+/-68.1	0,33,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	,,	0,38,6451	AA,AG,GG		0.3843,0.1138,0.2928	,,	800/1258,816/1274,32/490	79296193	38,12940	2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296193G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2448C>T	15.37:g.79296193G>A						RASGRF1_ENST00000558480.2_Silent_p.G800G|RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000560334.1_5'UTR	p.G816G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2722	-			818					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2448C>T	CCDS10309.1																																																																																				0.612	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		5	62	0	0	0	1	0	5	62				
TPX2	22974	broad.mit.edu	37	20	30388772	30388772	+	Splice_Site	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:30388772G>C	ENST00000300403.6	+	18	2661		c.e18-1		TPX2_ENST00000340513.4_Splice_Site	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated						activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTACTTTGCAGGTGCATAAGG	0.398																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.e19-1		TPX2, microtubule-associated							177.0	158.0	164.0					20																	30388772		2203	4300	6503	SO:0001630	splice_region_variant	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30388772G>C	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.2134-1G>C	20.37:g.30388772G>C						TPX2_ENST00000300403.6_Splice_Site				Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		19	2769	+								Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Splice_Site	SNP	ENST00000300403.6	37		CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632855	0.67015	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9537	0.89062	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPX2	29852433	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.797000	0.85911	2.714000	0.92807	0.561000	0.74099	.		0.398	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		Intron	9	142	0	0	0	1	0	9	142				
ZNF599	148103	broad.mit.edu	37	19	35250972	35250972	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:35250972T>G	ENST00000329285.8	-	4	1107	c.734A>C	c.(733-735)cAt>cCt	p.H245P		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGCCTCATATGTCGAATGAC	0.488																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(733-735)cAt>cCt		zinc finger protein 599							139.0	143.0	142.0					19																	35250972		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250972T>G	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.734A>C	19.37:g.35250972T>G	ENSP00000333802:p.His245Pro						p.H245P	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1107	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		245					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.734A>C	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.766826	0.31320	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	D	0.86865	-2.18	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93805	0.8019	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92039	0.5639	9	0.87932	D	0	.	4.5871	0.12287	0.2873:0.0:0.0:0.7127	.	245	Q96NL3	ZN599_HUMAN	P	244;245;47	ENSP00000333802:H245P	ENSP00000333802:H245P	H	-	2	0	ZNF599	39942812	1.000000	0.71417	0.991000	0.47740	0.614000	0.37383	6.199000	0.72112	1.297000	0.44761	0.260000	0.18958	CAT		0.488	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		3	92	0	0	0	1	0	3	92				
EXPH5	23086	broad.mit.edu	37	11	108381248	108381248	+	Silent	SNP	G	G	A	rs201992262		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:108381248G>A	ENST00000265843.4	-	6	5096	c.4986C>T	c.(4984-4986)aaC>aaT	p.N1662N	EXPH5_ENST00000525344.1_Silent_p.N1655N|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Silent_p.N1586N|EXPH5_ENST00000443411.1_Silent_p.N1474N	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1662					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATGCTTTCCGTTCTCACTCA	0.473																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4984-4986)aaC>aaT		exophilin 5							204.0	198.0	200.0					11																	108381248		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381248G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4986C>T	11.37:g.108381248G>A						EXPH5_ENST00000428840.1_Silent_p.N1586N|EXPH5_ENST00000525344.1_Silent_p.N1655N|EXPH5_ENST00000443411.1_Silent_p.N1474N	p.N1662N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5096	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1662					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.4986C>T	CCDS8341.1																																																																																				0.473	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		7	187	0	0	0	1	0	7	187				
CAP2	10486	broad.mit.edu	37	6	17421817	17421817	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:17421817C>G	ENST00000229922.2	+	2	563	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CAP2_ENST00000489374.1_Missense_Mutation_p.L11V|CAP2_ENST00000465994.1_Missense_Mutation_p.L11V|CAP2_ENST00000493172.1_Missense_Mutation_p.L11V|CAP2_ENST00000378990.2_Missense_Mutation_p.L11V	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	11					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGTGGAAAGACTGGAACGAGC	0.567																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(31-33)Ctg>Gtg		CAP, adenylate cyclase-associated protein, 2 (yeast)							110.0	109.0	109.0					6																	17421817		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17421817C>G	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.31C>G	6.37:g.17421817C>G	ENSP00000229922:p.Leu11Val					CAP2_ENST00000465994.1_Missense_Mutation_p.L11V|CAP2_ENST00000489374.1_Missense_Mutation_p.L11V|CAP2_ENST00000493172.1_Missense_Mutation_p.L11V|CAP2_ENST00000378990.2_Missense_Mutation_p.L11V	p.L11V	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		2	563	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	11					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.31C>G	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367654	0.24771	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.42	4.55	0.56014	Adenylate cyclase-associated CAP, N-terminal (1);CAP, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.94142	3.5	0.32486	N	0.540909	D;D;D;D;D	0.89917	0.997;0.992;0.997;1.0;1.0	D;D;D;D;D	0.91635	0.992;0.987;0.992;0.999;0.999	T	0.64875	-0.6304	10	0.87932	D	0	-14.8178	10.5384	0.45018	0.0:0.9097:0.0:0.0903	.	11;11;11;11;11	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	V	11	ENSP00000229922:L11V;ENSP00000417705:L11V;ENSP00000368275:L11V;ENSP00000417208:L11V;ENSP00000418604:L11V	ENSP00000229922:L11V	L	+	1	2	CAP2	17529796	0.996000	0.38824	0.981000	0.43875	0.100000	0.18952	1.073000	0.30691	1.421000	0.47157	0.655000	0.94253	CTG		0.567	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			4	123	0	0	0	1	0	4	123				
LHFPL1	340596	broad.mit.edu	37	X	111914407	111914407	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:111914407G>C	ENST00000371968.3	-	2	451	c.212C>G	c.(211-213)gCc>gGc	p.A71G	LHFPL1_ENST00000536453.1_Missense_Mutation_p.A71G|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	71						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						ATTGAAGCTGGCATAGCGCCC	0.592																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(211-213)gCc>gGc		lipoma HMGIC fusion partner-like 1							134.0	118.0	124.0					X																	111914407		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914407G>C	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.212C>G	X.37:g.111914407G>C	ENSP00000361036:p.Ala71Gly					LHFPL1_ENST00000536453.1_Missense_Mutation_p.A71G|LHFPL1_ENST00000478229.1_Intron	p.A71G	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	451	-			71					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.212C>G	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393041	0.83011	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73575	-0.76;-0.76	5.29	5.29	0.74685	.	0.051060	0.85682	D	0.000000	D	0.85383	0.5684	M	0.77820	2.39	0.80722	D	1	D;D	0.69078	0.988;0.997	D;D	0.79108	0.986;0.992	D	0.84888	0.0835	10	0.38643	T	0.18	-32.508	15.1347	0.72555	0.0:0.0:1.0:0.0	.	71;71	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	G	71	ENSP00000361036:A71G;ENSP00000444573:A71G	ENSP00000361036:A71G	A	-	2	0	LHFPL1	111801063	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.263000	0.95617	2.456000	0.83038	0.600000	0.82982	GCC		0.592	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		3	57	0	0	0	1	0	3	57				
MC4R	4160	broad.mit.edu	37	18	58038877	58038877	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:58038877G>A	ENST00000299766.3	-	1	1124	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	236					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GCACCTTGGCGGATGGCACCA	0.517																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(706-708)Cgc>Tgc		melanocortin 4 receptor							72.0	66.0	68.0					18																	58038877		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038877G>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.706C>T	18.37:g.58038877G>A	ENSP00000299766:p.Arg236Cys						p.R236C	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	1124	-		Colorectal(73;0.0946)	236					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.706C>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752621	0.49362	.	.	ENSG00000166603	ENST00000299766	T	0.46451	0.87	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.165998	0.56097	D	0.000036	T	0.48537	0.1505	M	0.73598	2.24	0.58432	D	0.999999	B	0.25441	0.126	B	0.24848	0.056	T	0.47774	-0.9091	10	0.66056	D	0.02	.	17.6572	0.88181	0.0:0.0:1.0:0.0	.	236	P32245	MC4R_HUMAN	C	236	ENSP00000299766:R236C	ENSP00000299766:R236C	R	-	1	0	MC4R	56189857	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	6.762000	0.74950	2.773000	0.95371	0.655000	0.94253	CGC		0.517	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		11	48	0	0	0	1	0	11	48				
PTPN4	5775	broad.mit.edu	37	2	120709680	120709680	+	Silent	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:120709680A>G	ENST00000263708.2	+	19	2559	c.1788A>G	c.(1786-1788)gaA>gaG	p.E596E	PTPN4_ENST00000544261.1_Silent_p.E229E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	596					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTCTGGGGAACTCATGCTTC	0.403																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1786-1788)gaA>gaG		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						168.0	157.0	161.0					2																	120709680		2203	4300	6503	SO:0001819	synonymous_variant	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120709680A>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1788A>G	2.37:g.120709680A>G						PTPN4_ENST00000544261.1_Silent_p.E229E	p.E596E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			19	2559	+			596					B2RBV8|Q9UDA7	Silent	SNP	ENST00000263708.2	37	c.1788A>G	CCDS2129.1																																																																																				0.403	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			6	99	0	0	0	1	0	6	99				
MYO3A	53904	broad.mit.edu	37	10	26463288	26463288	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:26463288G>T	ENST00000265944.5	+	30	4261	c.4095G>T	c.(4093-4095)caG>caT	p.Q1365H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1365	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGGCAGCAGTTGAGGAAGG	0.438																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4093-4095)caG>caT		myosin IIIA							147.0	134.0	139.0					10																	26463288		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463288G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4095G>T	10.37:g.26463288G>T	ENSP00000265944:p.Gln1365His					MYO3A_ENST00000543632.1_Intron	p.Q1365H	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4261	+			1365			IQ 3.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4095G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790568	0.50102	.	.	ENSG00000095777	ENST00000265944	T	0.78816	-1.21	5.73	-0.0819	0.13701	.	0.265537	0.43579	D	0.000547	T	0.79203	0.4406	L	0.39898	1.24	0.39229	D	0.963647	D	0.67145	0.996	D	0.64877	0.93	T	0.77619	-0.2520	10	0.72032	D	0.01	.	10.6713	0.45760	0.5169:0.0:0.4831:0.0	.	1365	Q8NEV4	MYO3A_HUMAN	H	1365	ENSP00000265944:Q1365H	ENSP00000265944:Q1365H	Q	+	3	2	MYO3A	26503294	0.059000	0.20769	0.023000	0.16930	0.152000	0.21847	-0.176000	0.09811	-0.311000	0.08754	-0.253000	0.11424	CAG		0.438	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		19	97	1	0	1.96292e-10	1	2.01325e-10	19	97				
CCR7	1236	broad.mit.edu	37	17	38715155	38715155	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:38715155A>G	ENST00000246657.2	-	2	112	c.50T>C	c.(49-51)gTc>gCc	p.V17A	CCR7_ENST00000579344.1_Missense_Mutation_p.V11A	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	17					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CTGGAAAATGACAAGGAGAGC	0.498																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(49-51)gTc>gCc		chemokine (C-C motif) receptor 7							73.0	66.0	69.0					17																	38715155		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38715155A>G		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.50T>C	17.37:g.38715155A>G	ENSP00000246657:p.Val17Ala					CCR7_ENST00000579344.1_Missense_Mutation_p.V11A	p.V17A	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			2	112	-		Breast(137;0.000496)	17						Missense_Mutation	SNP	ENST00000246657.2	37	c.50T>C	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	A	9.910	1.209132	0.22205	.	.	ENSG00000126353	ENST00000246657	T	0.61158	0.13	4.9	4.9	0.64082	.	0.583336	0.16150	N	0.227324	T	0.49712	0.1573	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39375	-0.9617	10	0.39692	T	0.17	.	10.8408	0.46715	1.0:0.0:0.0:0.0	.	17	P32248	CCR7_HUMAN	A	17	ENSP00000246657:V17A	ENSP00000246657:V17A	V	-	2	0	CCR7	35968681	0.069000	0.21087	0.063000	0.19743	0.577000	0.36160	4.633000	0.61318	2.053000	0.61076	0.402000	0.26972	GTC		0.498	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			4	48	0	0	0	1	0	4	48				
GATM	2628	broad.mit.edu	37	15	45658331	45658331	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:45658331T>C	ENST00000396659.3	-	6	1230	c.891A>G	c.(889-891)aaA>aaG	p.K297K	GATM_ENST00000558336.1_Silent_p.K297K	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	297					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GATTGGGATCTTTAAAGGAGA	0.428																																						ENST00000396659.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(889-891)aaA>aaG		glycine amidinotransferase (L-arginine:glycine amidinotransferase)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						173.0	154.0	160.0					15																	45658331		2198	4298	6496	SO:0001819	synonymous_variant	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45658331T>C	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.891A>G	15.37:g.45658331T>C						GATM_ENST00000558336.1_Silent_p.K297K	p.K297K	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	6	1230	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	297					B4DH99|B4DPI3|Q53EQ4	Silent	SNP	ENST00000396659.3	37	c.891A>G	CCDS10122.1																																																																																				0.428	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		21	59	0	0	0	1	0	21	59				
INTS9	55756	broad.mit.edu	37	8	28625815	28625815	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:28625815C>G	ENST00000521022.1	-	17	1906	c.1825G>C	c.(1825-1827)Gag>Cag	p.E609Q	INTS9_ENST00000416984.2_Missense_Mutation_p.E588Q|INTS9_ENST00000397363.4_Missense_Mutation_p.E503Q|INTS9_ENST00000521777.1_Missense_Mutation_p.E585Q	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	609					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGTGTCCTCCACCTTAATA	0.502																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1762-1764)Gag>Cag		integrator complex subunit 9							198.0	190.0	193.0					8																	28625815		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28625815C>G	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1825G>C	8.37:g.28625815C>G	ENSP00000429065:p.Glu609Gln					INTS9_ENST00000397363.4_Missense_Mutation_p.E503Q|INTS9_ENST00000521777.1_Missense_Mutation_p.E585Q|INTS9_ENST00000521022.1_Missense_Mutation_p.E609Q	p.E588Q	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	16	2121	-		Ovarian(32;0.0439)	609					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.1762G>C	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.039865|4.039865	0.75732|0.75732	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363|ENST00000517383	T;T;T;T|.	0.51817|.	0.69;0.7;0.69;0.7|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73450|0.73450	0.3588|0.3588	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	D;P|.	0.55800|.	0.973;0.656|.	P;B|.	0.49528|.	0.614;0.275|.	T|T	0.72235|0.72235	-0.4352|-0.4352	10|5	0.37606|.	T|.	0.19|.	-19.5542|-19.5542	18.5577|18.5577	0.91090|0.91090	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	588;609|.	B7Z6M5;Q9NV88|.	.;INT9_HUMAN|.	Q|C	609;588;453;585;503|100	ENSP00000429065:E609Q;ENSP00000398208:E588Q;ENSP00000430943:E585Q;ENSP00000380520:E503Q|.	ENSP00000380520:E503Q|.	E|W	-|-	1|3	0|0	INTS9|INTS9	28681734|28681734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.703000|7.703000	0.84585|0.84585	2.366000|2.366000	0.80165|0.80165	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.502	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		10	170	0	0	0	1	0	10	170				
FOXD4L5	653427	broad.mit.edu	37	9	70177705	70177705	+	Silent	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:70177705C>T	ENST00000377420.1	-	1	1110	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	93					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P93P(2)		endometrium(5)|lung(2)	7						CAGACCTTGGCGGTGCCCTGA	0.677																																						ENST00000377420.1																			2	Substitution - coding silent(2)	p.P93P(2)	endometrium(2)	endometrium(5)|lung(2)	7						c.(277-279)ccG>ccA		forkhead box D4-like 5							42.0	66.0	59.0					9																	70177705		692	1581	2273	SO:0001819	synonymous_variant	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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.chr9:70177705C>T		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.279G>A	9.37:g.70177705C>T							p.P93P	NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN			1	1110	-			93						Silent	SNP	ENST00000377420.1	37	c.279G>A	CCDS47977.1																																																																																				0.677	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		5	270	0	0	0	1	0	5	270				
SOHLH1	402381	broad.mit.edu	37	9	138589373	138589373	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:138589373G>A	ENST00000298466.5	-	4	506	c.446C>T	c.(445-447)aCg>aTg	p.T149M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.T149M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	149					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GGACGCTCCCGTCCCAGGGTC	0.597																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(445-447)aCg>aTg		spermatogenesis and oogenesis specific basic helix-loop-helix 1							64.0	55.0	58.0					9																	138589373		2201	4300	6501	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138589373G>A	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.446C>T	9.37:g.138589373G>A	ENSP00000298466:p.Thr149Met					SOHLH1_ENST00000425225.1_Missense_Mutation_p.T149M	p.T149M	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	4	506	-		Myeloproliferative disorder(178;0.0511)	149					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.446C>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731698	0.30684	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.32988	1.43;1.45	4.24	-7.09	0.01553	.	2.210090	0.02532	N	0.093742	T	0.21550	0.0519	L	0.34521	1.04	0.09310	N	1	B;B	0.24675	0.109;0.066	B;B	0.22386	0.039;0.012	T	0.14587	-1.0467	10	0.36615	T	0.2	-0.3747	8.994	0.36041	0.6587:0.1138:0.2276:0.0	.	149;149	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	M	149	ENSP00000298466:T149M;ENSP00000404438:T149M	ENSP00000298466:T149M	T	-	2	0	SOHLH1	137729194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.705000	0.01896	-1.622000	0.01560	-0.258000	0.10820	ACG		0.597	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		3	41	0	0	0	1	0	3	41				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	p.H179R	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	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	37	0	0	0	1	0	52	37				
IL6	3569	broad.mit.edu	37	7	22769188	22769188	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:22769188A>T	ENST00000404625.1	+	5	839	c.380A>T	c.(379-381)gAg>gTg	p.E127V	IL6_ENST00000406575.1_Missense_Mutation_p.E127V|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000401630.3_Missense_Mutation_p.E104V|IL6_ENST00000420258.2_Missense_Mutation_p.E181V|IL6_ENST00000407492.1_Missense_Mutation_p.E51V|IL6_ENST00000258743.5_Missense_Mutation_p.E127V|IL6_ENST00000401651.1_Missense_Mutation_p.E51V			P05231	IL6_HUMAN	interleukin 6	127					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	GTATACCTAGAGTACCTCCAG	0.458																																					Esophageal Squamous(47;342 1214 13936 33513)	ENST00000404625.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8						c.(379-381)gAg>gTg		interleukin 6 (interferon, beta 2)	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						154.0	153.0	153.0					7																	22769188		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22769188A>T	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.380A>T	7.37:g.22769188A>T	ENSP00000385675:p.Glu127Val					IL6_ENST00000401630.3_Missense_Mutation_p.E104V|IL6_ENST00000258743.5_Missense_Mutation_p.E127V|IL6_ENST00000420258.2_Missense_Mutation_p.E181V|IL6_ENST00000401651.1_Missense_Mutation_p.E51V|IL6_ENST00000407492.1_Missense_Mutation_p.E51V|IL6_ENST00000406575.1_Missense_Mutation_p.E127V	p.E127V			P05231	IL6_HUMAN			5	839	+			127					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.380A>T	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077358	0.55753	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000401651;ENST00000258743;ENST00000420258;ENST00000407492;ENST00000401630;ENST00000406575	T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.87	3.49	0.39957	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.204080	0.05394	N	0.539489	T	0.47451	0.1446	L	0.32530	0.975	0.09310	N	1	D;D;D	0.65815	0.992;0.989;0.995	P;D;D	0.65684	0.845;0.916;0.937	T	0.24333	-1.0163	10	0.72032	D	0.01	-1.1131	6.305	0.21133	0.7591:0.1598:0.0811:0.0	.	181;127;127	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	V	127;127;51;127;181;51;104;127	ENSP00000385675:E127V;ENSP00000405150:E127V;ENSP00000385718:E51V;ENSP00000258743:E127V;ENSP00000405994:E181V;ENSP00000385043:E51V;ENSP00000384928:E104V;ENSP00000385227:E127V	ENSP00000258743:E127V	E	+	2	0	IL6	22735713	0.018000	0.18449	0.000000	0.03702	0.002000	0.02628	3.020000	0.49643	0.556000	0.29098	-0.316000	0.08728	GAG		0.458	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		11	65	0	0	0	1	0	11	65				
DCHS1	8642	broad.mit.edu	37	11	6645181	6645181	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645181C>G	ENST00000299441.3	-	21	8137	c.7726G>C	c.(7726-7728)Gac>Cac	p.D2576H	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2576	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCCACGGTCAGCTGCAGCC	0.562																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7726-7728)Gac>Cac		dachsous cadherin-related 1							72.0	68.0	69.0					11																	6645181		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645181C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7726G>C	11.37:g.6645181C>G	ENSP00000299441:p.Asp2576His						p.D2576H	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8137	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2576			Cadherin 24.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7726G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578145	0.28180	.	.	ENSG00000166341	ENST00000299441	T	0.68903	-0.36	5.03	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000204	D	0.86661	0.5986	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90164	0.4230	10	0.87932	D	0	.	12.3353	0.55062	0.0:0.9181:0.0:0.0819	.	2576	Q96JQ0	PCD16_HUMAN	H	2576	ENSP00000299441:D2576H	ENSP00000299441:D2576H	D	-	1	0	DCHS1	6601757	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	7.629000	0.83207	1.363000	0.46019	-0.145000	0.13849	GAC		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	111	0	0	0	1	0	5	111				
FRMD7	90167	broad.mit.edu	37	X	131212491	131212491	+	Silent	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:131212491A>G	ENST00000298542.4	-	12	1729	c.1554T>C	c.(1552-1554)agT>agC	p.S518S	FRMD7_ENST00000370879.1_Silent_p.S398S|FRMD7_ENST00000464296.1_Silent_p.S503S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	518					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGCTATGTGGACTTGTCCTTT	0.493																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1552-1554)agT>agC		FERM domain containing 7							162.0	158.0	159.0					X																	131212491		2203	4300	6503	SO:0001819	synonymous_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212491A>G	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1554T>C	X.37:g.131212491A>G						FRMD7_ENST00000370879.1_Silent_p.S398S|FRMD7_ENST00000464296.1_Silent_p.S503S	p.S518S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1729	-	Acute lymphoblastic leukemia(192;0.000127)		518					C0LLJ3|Q5JX99	Silent	SNP	ENST00000298542.4	37	c.1554T>C	CCDS35397.1																																																																																				0.493	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		3	84	0	0	0	1	0	3	84				
RLF	6018	broad.mit.edu	37	1	40702367	40702367	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:40702367C>G	ENST00000372771.4	+	8	2020	c.1993C>G	c.(1993-1995)Ctg>Gtg	p.L665V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	665					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGATTGCCACCTGCAAGACAG	0.418																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(1993-1995)Ctg>Gtg		rearranged L-myc fusion							121.0	120.0	120.0					1																	40702367		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40702367C>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1993C>G	1.37:g.40702367C>G	ENSP00000361857:p.Leu665Val						p.L665V	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	2020	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	665					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.1993C>G	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234241	0.22626	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.53423	0.62	6.17	6.17	0.99709	.	0.064498	0.64402	D	0.000006	T	0.53578	0.1805	L	0.32530	0.975	0.54753	D	0.99998	P;D	0.57899	0.508;0.981	B;P	0.53490	0.234;0.727	T	0.40515	-0.9559	10	0.37606	T	0.19	-4.7098	20.8794	0.99867	0.0:1.0:0.0:0.0	.	358;665	F5H2M5;Q13129	.;RLF_HUMAN	V	665;358	ENSP00000361857:L665V	ENSP00000361857:L665V	L	+	1	2	RLF	40474954	0.885000	0.30320	1.000000	0.80357	0.996000	0.88848	0.840000	0.27600	2.941000	0.99782	0.655000	0.94253	CTG		0.418	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		39	88	0	0	0	1	0	39	88				
HIST2H2AB	317772	broad.mit.edu	37	1	149859423	149859423	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:149859423G>C	ENST00000331128.3	-	1	43	c.44C>G	c.(43-45)gCc>gGc	p.A15G	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	15						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGACTTGGCCTTAGCGCG	0.602																																						ENST00000331128.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(43-45)gCc>gGc		histone cluster 2, H2ab							56.0	63.0	61.0					1																	149859423		2203	4294	6497	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859423G>C	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.44C>G	1.37:g.149859423G>C	ENSP00000332790:p.Ala15Gly						p.A15G	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	43	-	Breast(34;0.0124)|all_hematologic(923;0.127)		15						Missense_Mutation	SNP	ENST00000331128.3	37	c.44C>G	CCDS938.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900623	0.52227	.	.	ENSG00000184270	ENST00000331128	T	0.42131	0.98	5.27	5.27	0.74061	Histone-fold (2);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.64567	1.98	0.58432	D	0.999997	P	0.35242	0.492	P	0.49421	0.61	T	0.50457	-0.8826	10	0.66056	D	0.02	.	16.7454	0.85470	0.0:0.0:1.0:0.0	.	15	Q8IUE6	H2A2B_HUMAN	G	15	ENSP00000332790:A15G	ENSP00000332790:A15G	A	-	2	0	HIST2H2AB	148126047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.019000	0.88732	2.621000	0.88768	0.655000	0.94253	GCC		0.602	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		4	164	0	0	0	1	0	4	164				
IGHV4-61	28391	broad.mit.edu	37	14	107095582	107095582	+	RNA	SNP	G	G	T	rs199752067	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:107095582G>T	ENST00000390630.2	-	0	80				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGGAGGTCCAGGACTCTCAGA	0.502																																						ENST00000390630.2																			0																				18.0	34.0	29.0					14																	107095582		1656	3889	5545			0							g.chr14:107095582G>T	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095582G>T														0	80	-									RNA	SNP	ENST00000390630.2	37																																																																																						0.502	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		4	15	1	0	0.014758	1	0.0148508	4	15				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron			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_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_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		5	39	0	0	0	1	0	5	39				
PDE8A	5151	broad.mit.edu	37	15	85619979	85619979	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:85619979G>C	ENST00000310298.4	+	6	759	c.507G>C	c.(505-507)gaG>gaC	p.E169D	PDE8A_ENST00000339708.5_Missense_Mutation_p.E169D|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Missense_Mutation_p.E97D|PDE8A_ENST00000394553.1_Missense_Mutation_p.E169D			O60658	PDE8A_HUMAN	phosphodiesterase 8A	169					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ATAGAGAAGAGTTGTCCGTAA	0.294																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(505-507)gaG>gaC		phosphodiesterase 8A							206.0	198.0	201.0					15																	85619979		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85619979G>C	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.507G>C	15.37:g.85619979G>C	ENSP00000311453:p.Glu169Asp					PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.E169D|PDE8A_ENST00000557957.1_Missense_Mutation_p.E97D|PDE8A_ENST00000339708.5_Missense_Mutation_p.E169D	p.E169D			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		6	759	+	Colorectal(223;0.227)		169					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.507G>C	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	8.558	0.877091	0.17395	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.42900	0.96;0.96;0.96	4.19	-2.56	0.06268	Signal transduction response regulator, receiver domain (1);	0.253429	0.38111	N	0.001802	T	0.45478	0.1344	L	0.48877	1.53	0.32264	N	0.569725	D;D	0.76494	0.997;0.999	D;D	0.83275	0.961;0.996	T	0.51228	-0.8732	10	0.27082	T	0.32	.	5.7001	0.17877	0.5435:0.1509:0.3056:0.0	.	169;169	O60658-2;O60658	.;PDE8A_HUMAN	D	169	ENSP00000311453:E169D;ENSP00000378056:E169D;ENSP00000340679:E169D	ENSP00000311453:E169D	E	+	3	2	PDE8A	83420983	0.136000	0.22515	0.050000	0.19076	0.338000	0.28826	0.308000	0.19314	-0.351000	0.08249	-0.908000	0.02827	GAG		0.294	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		10	107	0	0	0	1	0	10	107				
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020762	33020762	+	RNA	SNP	G	G	A	rs368891279		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:33020762G>A	ENST00000565407.2	+	0	170				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		AGCTGGGTCCGCCAGGCTCCA	0.562																																						ENST00000565407.2																			0																				224.0	188.0	200.0					16																	33020762		1924	4125	6049			0							g.chr16:33020762G>A	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020762G>A						RP11-19N8.2_ENST00000567619.1_RNA								0	170	+									RNA	SNP	ENST00000565407.2	37																																																																																						0.562	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			50	312	0	0	0	1	0	50	312				
DNAH5	1767	broad.mit.edu	37	5	13792273	13792273	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:13792273T>C	ENST00000265104.4	-	50	8382	c.8278A>G	c.(8278-8280)Aga>Gga	p.R2760G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2760	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAATCTCTCACTTCTTCT	0.423									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8278-8280)Aga>Gga		dynein, axonemal, heavy chain 5							111.0	107.0	108.0					5																	13792273		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13792273T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8278A>G	5.37:g.13792273T>C	ENSP00000265104:p.Arg2760Gly						p.R2760G	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			50	8382	-	Lung NSC(4;0.00476)		2760			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8278A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	4.012	-0.000388	0.07819	.	.	ENSG00000039139	ENST00000265104	T	0.35973	1.28	5.51	1.59	0.23543	ATPase, AAA+ type, core (1);	0.479994	0.24587	N	0.037260	T	0.31670	0.0804	M	0.70595	2.14	0.26051	N	0.981476	B	0.02656	0.0	B	0.13407	0.009	T	0.28776	-1.0033	10	0.15499	T	0.54	.	8.3166	0.32104	0.0:0.0686:0.2566:0.6748	.	2760	Q8TE73	DYH5_HUMAN	G	2760	ENSP00000265104:R2760G	ENSP00000265104:R2760G	R	-	1	2	DNAH5	13845273	0.101000	0.21875	0.974000	0.42286	0.200000	0.23975	1.005000	0.29834	0.413000	0.25759	0.533000	0.62120	AGA		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		3	55	0	0	0	1	0	3	55				
OSBP2	23762	broad.mit.edu	37	22	31137232	31137232	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:31137232C>G	ENST00000332585.6	+	2	833	c.729C>G	c.(727-729)atC>atG	p.I243M	OSBP2_ENST00000382310.3_Missense_Mutation_p.I243M|OSBP2_ENST00000403222.3_Missense_Mutation_p.I78M|OSBP2_ENST00000407373.1_Missense_Mutation_p.I70M|OSBP2_ENST00000446658.2_Missense_Mutation_p.I243M	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	243	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTTGTGGTATCTTGCTGACCA	0.597																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(727-729)atC>atG		oxysterol binding protein 2							47.0	51.0	50.0					22																	31137232		2037	4176	6213	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31137232C>G		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.729C>G	22.37:g.31137232C>G	ENSP00000332576:p.Ile243Met					OSBP2_ENST00000446658.2_Missense_Mutation_p.I243M|OSBP2_ENST00000407373.1_Missense_Mutation_p.I70M|OSBP2_ENST00000403222.3_Missense_Mutation_p.I78M|OSBP2_ENST00000382310.3_Missense_Mutation_p.I243M	p.I243M	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			2	833	+			243			PH.		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.729C>G	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182143	0.57800	.	.	ENSG00000184792	ENST00000438716;ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658	T;T;T;T;T	0.76316	0.84;0.85;-1.01;-1.01;-1.01	5.17	1.86	0.25419	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.66297	2.02	0.80722	D	1	D;P;P;D;D	0.63046	0.992;0.93;0.93;0.983;0.983	D;P;P;D;D	0.68483	0.937;0.753;0.753;0.958;0.958	T	0.81918	-0.0713	10	0.54805	T	0.06	-30.9013	8.1574	0.31178	0.0:0.6205:0.0:0.3795	.	243;78;70;243;243	B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;OSBP2_HUMAN	M	78;78;70;243;243;243	ENSP00000384213:I78M;ENSP00000385237:I70M;ENSP00000332576:I243M;ENSP00000371747:I243M;ENSP00000392080:I243M	ENSP00000332576:I243M	I	+	3	3	OSBP2	29467232	0.115000	0.22152	0.948000	0.38648	0.943000	0.58893	-0.297000	0.08276	1.111000	0.41721	0.462000	0.41574	ATC		0.597	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		4	65	0	0	0	1	0	4	65				
DDX43	55510	broad.mit.edu	37	6	74124393	74124393	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:74124393C>T	ENST00000370336.4	+	14	1887	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	577	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGAATAGGGCGCACGGGAAG	0.428																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1729-1731)Cgc>Tgc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							121.0	109.0	113.0					6																	74124393		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74124393C>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1729C>T	6.37:g.74124393C>T	ENSP00000359361:p.Arg577Cys					MB21D1_ENST00000370318.1_Intron	p.R577C	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			14	1887	+			577			Helicase C-terminal.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.1729C>T	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633676	0.47049	.	.	ENSG00000080007	ENST00000370336	D	0.99150	-5.49	4.15	3.28	0.37604	Helicase, C-terminal (3);	0.099513	0.64402	D	0.000002	D	0.99539	0.9835	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98235	1.0485	10	0.87932	D	0	-15.7117	11.7588	0.51890	0.0:0.9113:0.0:0.0886	.	577	Q9NXZ2	DDX43_HUMAN	C	577	ENSP00000359361:R577C	ENSP00000359361:R577C	R	+	1	0	DDX43	74181114	0.996000	0.38824	0.935000	0.37517	0.251000	0.25915	2.561000	0.45905	1.061000	0.40601	0.650000	0.86243	CGC		0.428	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		4	105	0	0	0	1	0	4	105				
DCHS1	8642	broad.mit.edu	37	11	6645159	6645159	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645159C>G	ENST00000299441.3	-	21	8159	c.7748G>C	c.(7747-7749)aGc>aCc	p.S2583T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2583	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGACTGAGCTTTGGGGTGG	0.537																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7747-7749)aGc>aCc		dachsous cadherin-related 1							109.0	98.0	102.0					11																	6645159		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645159C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7748G>C	11.37:g.6645159C>G	ENSP00000299441:p.Ser2583Thr						p.S2583T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8159	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2583			Cadherin 24.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7748G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848311	0.32699	.	.	ENSG00000166341	ENST00000299441	T	0.52295	0.67	5.03	5.03	0.67393	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000052	T	0.56156	0.1966	N	0.25890	0.77	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.52305	-0.8593	10	0.32370	T	0.25	.	17.1275	0.86718	0.0:1.0:0.0:0.0	.	2583	Q96JQ0	PCD16_HUMAN	T	2583	ENSP00000299441:S2583T	ENSP00000299441:S2583T	S	-	2	0	DCHS1	6601735	1.000000	0.71417	0.987000	0.45799	0.053000	0.15095	5.887000	0.69751	2.626000	0.88956	0.650000	0.86243	AGC		0.537	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	163	0	0	0	1	0	9	163				
PI15	51050	broad.mit.edu	37	8	75737530	75737530	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:75737530C>T	ENST00000260113.2	+	2	225	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.L16F|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	16						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.L16I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTTCTCCCTTCTCTGTGAAGC	0.463																																						ENST00000260113.2																			1	Substitution - Missense(1)	p.L16I(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(46-48)Ctc>Ttc		peptidase inhibitor 15							237.0	234.0	235.0					8																	75737530		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737530C>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.46C>T	8.37:g.75737530C>T	ENSP00000260113:p.Leu16Phe					RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.L16F|RP11-758M4.4_ENST00000518128.1_RNA	p.L16F	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	225	+	Breast(64;0.137)		16					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.46C>T	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998105	0.35226	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08984	3.03;3.03	4.77	3.89	0.44902	.	0.237373	0.37393	N	0.002112	T	0.08403	0.0209	L	0.51422	1.61	0.45490	D	0.998453	B	0.34015	0.435	B	0.30029	0.11	T	0.18178	-1.0345	10	0.39692	T	0.17	.	10.1927	0.43037	0.0:0.7887:0.136:0.0753	.	16	O43692	PI15_HUMAN	F	16	ENSP00000260113:L16F;ENSP00000428567:L16F	ENSP00000260113:L16F	L	+	1	0	PI15	75900085	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.040000	0.41203	1.365000	0.46057	0.561000	0.74099	CTC		0.463	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		9	256	0	0	0	1	0	9	256				
ALDH1A2	8854	broad.mit.edu	37	15	58254315	58254315	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:58254315G>A	ENST00000249750.4	-	10	1913	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	ALDH1A2_ENST00000559517.1_Silent_p.G286G|ALDH1A2_ENST00000347587.3_Silent_p.G344G|ALDH1A2_ENST00000537372.1_Silent_p.G361G|ALDH1A2_ENST00000558231.1_Silent_p.G353G	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	382					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CCAGCTTGGCGCCCTCAGCCA	0.473																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1144-1146)ggC>ggT		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						98.0	92.0	94.0					15																	58254315		2192	4292	6484	SO:0001819	synonymous_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58254315G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1146C>T	15.37:g.58254315G>A						ALDH1A2_ENST00000347587.3_Silent_p.G344G|ALDH1A2_ENST00000559517.1_Silent_p.G286G|ALDH1A2_ENST00000537372.1_Silent_p.G361G|ALDH1A2_ENST00000558231.1_Silent_p.G353G	p.G382G	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	10	1913	-			382					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	37	c.1146C>T	CCDS10163.1																																																																																				0.473	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			4	91	0	0	0	1	0	4	91				
AGL	178	broad.mit.edu	37	1	100353559	100353559	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:100353559G>A	ENST00000294724.4	+	21	3185	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	AGL_ENST00000361915.3_Missense_Mutation_p.E903K|AGL_ENST00000370161.2_Missense_Mutation_p.E887K|AGL_ENST00000361522.4_Missense_Mutation_p.E886K|AGL_ENST00000370165.3_Missense_Mutation_p.E903K|AGL_ENST00000361302.3_Missense_Mutation_p.E887K|AGL_ENST00000370163.3_Missense_Mutation_p.E903K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	903					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AACTTTGGCTGAGCTAAATCA	0.373																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2707-2709)Gag>Aag		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							95.0	91.0	92.0					1																	100353559		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100353559G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2707G>A	1.37:g.100353559G>A	ENSP00000294724:p.Glu903Lys					AGL_ENST00000370163.3_Missense_Mutation_p.E903K|AGL_ENST00000370161.2_Missense_Mutation_p.E887K|AGL_ENST00000361915.3_Missense_Mutation_p.E903K|AGL_ENST00000361522.4_Missense_Mutation_p.E886K|AGL_ENST00000361302.3_Missense_Mutation_p.E887K|AGL_ENST00000370165.3_Missense_Mutation_p.E903K	p.E903K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	21	3185	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	903					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2707G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124933	0.77436	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	.	0.049346	0.85682	D	0.000000	T	0.17704	0.0425	L	0.34521	1.04	0.52099	D	0.999948	B;B;B	0.23249	0.082;0.082;0.049	B;B;B	0.25614	0.062;0.062;0.028	T	0.03306	-1.1050	10	0.54805	T	0.06	.	19.1783	0.93612	0.0:0.0:1.0:0.0	.	886;887;903	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	K	903;903;903;903;887;887;886	ENSP00000355106:E903K;ENSP00000359184:E903K;ENSP00000359182:E903K;ENSP00000294724:E903K;ENSP00000354971:E887K;ENSP00000359180:E887K;ENSP00000354635:E886K	ENSP00000294724:E903K	E	+	1	0	AGL	100126147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.869000	0.92326	2.595000	0.87683	0.544000	0.68410	GAG		0.373	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		5	44	0	0	0	1	0	5	44				
OTUD4	54726	broad.mit.edu	37	4	146058891	146058891	+	Silent	SNP	A	A	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:146058891A>C	ENST00000447906.2	-	21	3223	c.3036T>G	c.(3034-3036)gtT>gtG	p.V1012V	OTUD4_ENST00000454497.2_Silent_p.V947V|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1012					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTCTGCTATCAACAGAGTTGG	0.388																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2839-2841)gtT>gtG		OTU domain containing 4							142.0	149.0	146.0					4																	146058891		2203	4299	6502	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058891A>C		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3036T>G	4.37:g.146058891A>C						OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.V1012V	p.V947V	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2978	-	all_hematologic(180;0.151)		1011					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2841T>G																																																																																					0.388	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		3	122	0	0	0	1	0	3	122				
CYP2C8	1558	broad.mit.edu	37	10	96824603	96824603	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96824603T>A	ENST00000371270.3	-	4	690	c.596A>T	c.(595-597)aAa>aTa	p.K199I	CYP2C8_ENST00000535898.1_Missense_Mutation_p.K97I|CYP2C8_ENST00000539050.1_Missense_Mutation_p.K113I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	199					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	ATTGAATCTTTTCATCAGGGT	0.408																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(595-597)aAa>aTa		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						79.0	76.0	77.0					10																	96824603		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96824603T>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.596A>T	10.37:g.96824603T>A	ENSP00000360317:p.Lys199Ile					CYP2C8_ENST00000535898.1_Missense_Mutation_p.K97I|CYP2C8_ENST00000539050.1_Missense_Mutation_p.K113I	p.K199I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	4	690	-		Colorectal(252;0.0397)	199					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.596A>T	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359634	0.41801	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.70749	-0.51;-0.51;-0.51	4.45	-0.583	0.11706	.	1.190660	0.06324	U	0.705045	T	0.71745	0.3376	M	0.80183	2.485	0.09310	N	1	B;B;B;B	0.21520	0.057;0.039;0.021;0.011	B;B;B;B	0.28139	0.074;0.086;0.078;0.054	T	0.62186	-0.6907	10	0.56958	D	0.05	.	7.5644	0.27870	0.0:0.3407:0.0:0.6593	.	113;97;167;199	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	I	199;166;97;113	ENSP00000360317:K199I;ENSP00000445062:K97I;ENSP00000442343:K113I	ENSP00000360317:K199I	K	-	2	0	CYP2C8	96814593	0.000000	0.05858	0.000000	0.03702	0.484000	0.33280	0.716000	0.25836	0.015000	0.14971	0.260000	0.18958	AAA		0.408	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	64	0	0	0	1	0	4	64				
CSAG4	100130935	broad.mit.edu	37	X	151896273	151896273	+	RNA	SNP	C	C	T	rs2471768		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:151896273C>T	ENST00000361201.4	-	0	457					NR_073432.1				CSAG family, member 4 (pseudogene)											endometrium(2)|kidney(2)|lung(1)	5						TTTGAAGCGGCGGTCTTTTAG	0.502													.|||	1360	0.360265	0.1815	0.4914	3775	,	,		10636	0.245		0.2793	False		,,,				2504	0.2566					ENST00000361201.4																			0				endometrium(2)|kidney(2)|lung(1)	5																																														0							g.chrX:151896273C>T	BC013171		Xq28	2014-01-21	2012-04-19		ENSG00000242599	ENSG00000242599			20923	pseudogene	pseudogene			"""CSAG family, member 4"""				Standard	NR_073432		Approved				OTTHUMG00000022646		X.37:g.151896273C>T								NR_073432.1						0	457	-									RNA	SNP	ENST00000361201.4	37																																																																																						0.502	CSAG4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058758.2			3	33	0	0	0	1	0	3	33				
CYP2C19	1557	broad.mit.edu	37	10	96535297	96535297	+	Splice_Site	SNP	G	G	C	rs77576043		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96535297G>C	ENST00000371321.3	+	3	563		c.e3+1		CYP2C19_ENST00000464755.1_Splice_Site	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19						arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAAACCAAGGGTGGGTGAACA	0.498																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.e3+1		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						161.0	156.0	158.0					10																	96535297		2203	4300	6503	SO:0001630	splice_region_variant	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96535297G>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.481+1G>C	10.37:g.96535297G>C						CYP2C19_ENST00000464755.1_Splice_Site		NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	3	563	+		Colorectal(252;0.09)						P33259|Q8WZB1|Q8WZB2|Q9UCD4	Splice_Site	SNP	ENST00000371321.3	37		CCDS7436.1	.	.	.	.	.	.	.	.	.	.	-	8.181	0.793795	0.16327	.	.	ENSG00000165841	ENST00000371321	.	.	.	3.9	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2773	0.37707	0.0:0.0:0.7845:0.2155	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2C19	96525287	1.000000	0.71417	0.507000	0.27676	0.196000	0.23810	7.725000	0.84808	1.888000	0.54679	0.405000	0.27470	.		0.498	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769	Intron	9	150	0	0	0	1	0	9	150				
LOC101927209	101927209	broad.mit.edu	37	1	142713219	142713219	+	lincRNA	SNP	A	A	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:142713219A>T	ENST00000610091.1	-	0	2439																											CAGTGGAATTATTCACTTTAT	0.388																																						ENST00000369381.2																			0																																																			0							g.chr1:142713219A>T																													1.37:g.142713219A>T														0	1386	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.388	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	57	0	0	0	1	0	4	57				
PRG4	10216	broad.mit.edu	37	1	186276366	186276366	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:186276366G>A	ENST00000445192.2	+	7	1560	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PRG4_ENST00000367486.3_Silent_p.E462E|PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.E412E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	505	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTCCCAAGGAGCCTGCACCCA	0.647																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1513-1515)gaG>gaA		proteoglycan 4							113.0	113.0	113.0					1																	186276366		2203	4299	6502	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276366G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1515G>A	1.37:g.186276366G>A						PRG4_ENST00000367485.4_Silent_p.E412E|PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.E462E	p.E505E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1560	+			505			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1515G>A	CCDS1369.1																																																																																				0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	111	0	0	0	1	0	4	111				
TGM6	343641	broad.mit.edu	37	20	2411182	2411182	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:2411182T>C	ENST00000202625.2	+	11	1830	c.1769T>C	c.(1768-1770)gTc>gCc	p.V590A	TGM6_ENST00000381423.1_Missense_Mutation_p.V590A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	590					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGCCTTGTCACCAAAGGA	0.458																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1768-1770)gTc>gCc		transglutaminase 6	L-Glutamine(DB00130)						104.0	87.0	93.0					20																	2411182		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411182T>C	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1769T>C	20.37:g.2411182T>C	ENSP00000202625:p.Val590Ala					TGM6_ENST00000381423.1_Missense_Mutation_p.V590A	p.V590A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			11	1830	+			590					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1769T>C	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991716	0.54041	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.78246	-1.16;-1.16	5.88	5.88	0.94601	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.205007	0.43416	D	0.000577	T	0.75525	0.3861	M	0.66939	2.045	0.31558	N	0.657886	B;B	0.33266	0.404;0.4	B;B	0.33254	0.16;0.103	T	0.79327	-0.1849	10	0.44086	T	0.13	-46.5442	12.6797	0.56914	0.0:0.0:0.0:1.0	.	590;590	O95932-2;O95932	.;TGM3L_HUMAN	A	590	ENSP00000202625:V590A;ENSP00000370831:V590A	ENSP00000202625:V590A	V	+	2	0	TGM6	2359182	0.844000	0.29557	0.999000	0.59377	0.591000	0.36615	2.941000	0.49011	2.242000	0.73789	0.533000	0.62120	GTC		0.458	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	57	0	0	0	1	0	4	57				
TREML2	79865	broad.mit.edu	37	6	41160191	41160191	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:41160191G>A	ENST00000483722.1	-	5	1125	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	314					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACATAGGGCTCTGGTCTT	0.587																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(940-942)Ccc>Tcc		triggering receptor expressed on myeloid cells-like 2							114.0	96.0	102.0					6																	41160191		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41160191G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.940C>T	6.37:g.41160191G>A	ENSP00000418767:p.Pro314Ser						p.P314S	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			5	1125	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		314					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.940C>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884539	0.33255	.	.	ENSG00000112195	ENST00000483722	T	0.09163	3.01	4.45	1.53	0.23141	.	1.231110	0.05662	N	0.587196	T	0.03871	0.0109	L	0.56769	1.78	0.24546	N	0.994045	B	0.30584	0.286	B	0.25884	0.064	T	0.43212	-0.9405	10	0.62326	D	0.03	0.0017	4.3394	0.11103	0.2019:0.0:0.6137:0.1844	.	314	Q5T2D2	TRML2_HUMAN	S	314	ENSP00000418767:P314S	ENSP00000418767:P314S	P	-	1	0	TREML2	41268169	0.993000	0.37304	0.074000	0.20217	0.077000	0.17291	0.971000	0.29396	0.165000	0.19558	0.462000	0.41574	CCC		0.587	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		6	38	0	0	0	1	0	6	38				
TAS1R2	80834	broad.mit.edu	37	1	19181078	19181078	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:19181078C>T	ENST00000375371.3	-	3	907	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	296					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATCCACACGGCGCCAGTGAAG	0.637																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(886-888)Gcc>Acc		taste receptor, type 1, member 2	Aspartame(DB00168)						55.0	53.0	54.0					1																	19181078		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181078C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.886G>A	1.37:g.19181078C>T	ENSP00000364520:p.Ala296Thr					RP13-279N23.2_ENST00000494072.3_3'UTR	p.A296T	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	907	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	296					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.886G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	6.826	0.521544	0.13005	.	.	ENSG00000179002	ENST00000375371	D	0.82526	-1.62	4.89	-4.99	0.03010	Extracellular ligand-binding receptor (1);	2.484110	0.01813	N	0.033595	T	0.67050	0.2852	N	0.19112	0.55	0.09310	N	1	B	0.22346	0.068	B	0.17433	0.018	T	0.52548	-0.8561	10	0.29301	T	0.29	.	3.4977	0.07661	0.1074:0.1192:0.1023:0.6712	.	296	Q8TE23	TS1R2_HUMAN	T	296	ENSP00000364520:A296T	ENSP00000364520:A296T	A	-	1	0	TAS1R2	19053665	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.309000	0.08145	-1.054000	0.03214	0.561000	0.74099	GCC		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			11	43	0	0	0	1	0	11	43				
RNF6	6049	broad.mit.edu	37	13	26788671	26788671	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:26788671G>A	ENST00000381588.4	-	5	2100	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	RNF6_ENST00000346166.3_Missense_Mutation_p.R450W|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R450W|RNF6_ENST00000399762.2_Missense_Mutation_p.R94W	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	450					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R450W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ATACCTGACCGCTCTAAACGA	0.438																																						ENST00000381588.4																			1	Substitution - Missense(1)	p.R450W(1)	ovary(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1348-1350)Cgg>Tgg		ring finger protein (C3H2C3 type) 6							101.0	100.0	101.0					13																	26788671		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788671G>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1348C>T	13.37:g.26788671G>A	ENSP00000371000:p.Arg450Trp					RNF6_ENST00000346166.3_Missense_Mutation_p.R450W|RNF6_ENST00000399762.2_Missense_Mutation_p.R94W|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R450W	p.R450W	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2100	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	450					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.1348C>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342944	0.61073	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.21734	2.51;2.51;2.51;1.99	4.49	2.7	0.31948	.	0.076217	0.53938	D	0.000047	T	0.42921	0.1224	M	0.68593	2.085	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.952	T	0.35475	-0.9787	10	0.87932	D	0	-6.4837	13.028	0.58827	0.0:0.0:0.7067:0.2933	.	94;450	B4DDP0;Q9Y252	.;RNF6_HUMAN	W	450;450;450;94	ENSP00000342121:R450W;ENSP00000371000:R450W;ENSP00000370982:R450W;ENSP00000382665:R94W	ENSP00000342121:R450W	R	-	1	2	RNF6	25686671	1.000000	0.71417	0.926000	0.36857	0.993000	0.82548	3.483000	0.53194	0.473000	0.27368	0.455000	0.32223	CGG		0.438	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		3	68	0	0	0	1	0	3	68				
RORB	6096	broad.mit.edu	37	9	77257632	77257632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:77257632C>T	ENST00000396204.2	+	4	571	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	RORB_ENST00000376896.3_Nonsense_Mutation_p.Q180*			Q92753	RORB_HUMAN	RAR-related orphan receptor B	191	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	ACAGATAAAGCAAGAACCTAT	0.468																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(538-540)Caa>Taa		RAR-related orphan receptor B							81.0	76.0	78.0					9																	77257632		2203	4300	6503	SO:0001587	stop_gained	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77257632C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.571C>T	9.37:g.77257632C>T	ENSP00000379507:p.Gln191*					RORB_ENST00000396204.2_Nonsense_Mutation_p.Q191*	p.Q180*	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			4	1150	+			191			Hinge (Potential).		Q8WX73	Nonsense_Mutation	SNP	ENST00000396204.2	37	c.538C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.187082	0.97357	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	.	.	.	X	180;191	.	ENSP00000366093:Q180X	Q	+	1	0	RORB	76447452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.719000	0.93026	0.655000	0.94253	CAA		0.468	RORB-201	KNOWN	basic	protein_coding	protein_coding				10	60	0	0	0	1	0	10	60				
ANTXR1	84168	broad.mit.edu	37	2	69297779	69297779	+	Splice_Site	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:69297779A>G	ENST00000303714.4	+	4	619	c.297A>G	c.(295-297)agA>agG	p.R99R	ANTXR1_ENST00000409829.3_Splice_Site_p.R99R|ANTXR1_ENST00000409349.3_Splice_Site_p.R99R	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	99	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGATTTCAGAGAACAAATCC	0.378									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.e4-1		anthrax toxin receptor 1							82.0	83.0	83.0					2																	69297779		2203	4300	6503	SO:0001630	splice_region_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69297779A>G	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.297-1A>G	2.37:g.69297779A>G						ANTXR1_ENST00000409829.3_Splice_Site_p.R99_splice|ANTXR1_ENST00000409349.3_Splice_Site_p.R99_splice	p.R99_splice	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			4	619	+			99			VWFA.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Splice_Site	SNP	ENST00000303714.4	37	c.296_splice	CCDS1892.1																																																																																				0.378	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	Silent	3	63	0	0	0	1	0	3	63				
SUPT16H	11198	broad.mit.edu	37	14	21838616	21838616	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21838616A>G	ENST00000216297.2	-	4	700	c.362T>C	c.(361-363)aTg>aCg	p.M121T		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	121					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|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)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGCTTCAATCATTTTGTCAAA	0.383																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(361-363)aTg>aCg		suppressor of Ty 16 homolog (S. cerevisiae)							136.0	125.0	129.0					14																	21838616		2202	4300	6502	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21838616A>G	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.362T>C	14.37:g.21838616A>G	ENSP00000216297:p.Met121Thr						p.M121T	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	4	700	-	all_cancers(95;0.00115)		121					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.362T>C	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181100	0.57800	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	.	.	.	5.87	5.87	0.94306	.	0.038047	0.85682	D	0.000000	T	0.59945	0.2231	L	0.54323	1.7	0.80722	D	1	B	0.16802	0.019	B	0.18263	0.021	T	0.57653	-0.7774	9	0.56958	D	0.05	-23.2946	15.2599	0.73613	1.0:0.0:0.0:0.0	.	121	Q9Y5B9	SP16H_HUMAN	T	121	.	ENSP00000216297:M121T	M	-	2	0	SUPT16H	20908456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.778000	0.91785	2.247000	0.74100	0.482000	0.46254	ATG		0.383	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	53	0	0	0	1	0	4	53				
PTGER3	5733	broad.mit.edu	37	1	71418728	71418728	+	3'UTR	SNP	C	C	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:71418728C>A	ENST00000414819.1	-	0	1441				PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000351052.5_Intron|RP3-333A15.1_ENST00000426775.1_RNA|PTGER3_ENST00000356595.4_Missense_Mutation_p.L373F	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	gagagttctgcaaactgcaga	0.338																																						ENST00000356595.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1117-1119)ttG>ttT		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						141.0	125.0	131.0					1																	71418728		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71418728C>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.*38G>T	1.37:g.71418728C>A						PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370931.3_Intron	p.L373F	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN			4	1329	-			0					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000414819.1	37	c.1119G>T	CCDS656.1	.	.	.	.	.	.	.	.	.	.	C	4.047	0.006401	0.07866	.	.	ENSG00000050628	ENST00000356595	T	0.13307	2.6	0.587	0.587	0.17439	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	B	0.33583	0.418	B	0.17979	0.02	T	0.45833	-0.9234	8	0.22109	T	0.4	.	.	.	.	.	373	B1AK19	.	F	373	ENSP00000349003:L373F	ENSP00000349003:L373F	L	-	3	2	PTGER3	71191316	0.048000	0.20356	0.031000	0.17742	0.395000	0.30598	0.685000	0.25378	0.561000	0.29186	0.305000	0.20034	TTG		0.338	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957		3	74	1	0	1	1	1	3	74				
PTPRH	5794	broad.mit.edu	37	19	55708772	55708772	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:55708772A>C	ENST00000376350.3	-	9	1725	c.1703T>G	c.(1702-1704)gTc>gGc	p.V568G	PTPRH_ENST00000263434.5_Missense_Mutation_p.V390G|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	568	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGATCTGTGACCTCATTGGG	0.552																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1702-1704)gTc>gGc		protein tyrosine phosphatase, receptor type, H							61.0	65.0	64.0					19																	55708772		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708772A>C		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1703T>G	19.37:g.55708772A>C	ENSP00000365528:p.Val568Gly					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.V390G	p.V568G	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	1725	-		Renal(1328;0.245)	568			Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1703T>G	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867495	0.51588	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.59772	0.24;0.24	4.86	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75671	0.3881	M	0.81802	2.56	0.29804	N	0.832212	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.99;0.998	T	0.73541	-0.3950	9	0.87932	D	0	.	11.1201	0.48284	1.0:0.0:0.0:0.0	.	390;390;568	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	G	568;390	ENSP00000365528:V568G;ENSP00000263434:V390G	ENSP00000263434:V390G	V	-	2	0	PTPRH	60400584	0.304000	0.24472	0.043000	0.18650	0.005000	0.04900	2.474000	0.45154	1.963000	0.57068	0.533000	0.62120	GTC		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			3	77	0	0	0	1	0	3	77				
SNRNP40	9410	broad.mit.edu	37	1	31744294	31744294	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:31744294T>C	ENST00000263694.4	-	6	725	c.707A>G	c.(706-708)gAt>gGt	p.D236G	SNRNP40_ENST00000446633.2_Missense_Mutation_p.D236G|SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000373720.3_5'Flank	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	236					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGTCACTGAATCTGCATGGCC	0.448																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(706-708)gAt>gGt		small nuclear ribonucleoprotein 40kDa (U5)							80.0	81.0	80.0					1																	31744294		2203	4300	6503	SO:0001583	missense	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31744294T>C	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.707A>G	1.37:g.31744294T>C	ENSP00000263694:p.Asp236Gly					SNRNP40_ENST00000446633.2_Missense_Mutation_p.D236G|SNRNP40_ENST00000489853.1_5'UTR	p.D236G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			6	725	-			236					B4DQJ1|O75938|O95320	Missense_Mutation	SNP	ENST00000263694.4	37	c.707A>G	CCDS340.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.014257	0.93404	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.58797	0.31;0.31	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	L	0.38953	1.18	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.75484	0.986;0.954	T	0.66256	-0.5969	10	0.38643	T	0.18	.	16.087	0.81065	0.0:0.0:0.0:1.0	.	236;236	B4DQJ1;Q96DI7	.;SNR40_HUMAN	G	236	ENSP00000263694:D236G;ENSP00000406841:D236G	ENSP00000263694:D236G	D	-	2	0	SNRNP40	31516881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.979000	0.88103	2.202000	0.70862	0.533000	0.62120	GAT		0.448	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		7	51	0	0	0	1	0	7	51				
RPUSD4	84881	broad.mit.edu	37	11	126075477	126075477	+	Missense_Mutation	SNP	C	C	T	rs143531642		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:126075477C>T	ENST00000298317.4	-	5	735	c.682G>A	c.(682-684)Gat>Aat	p.D228N	RPUSD4_ENST00000533628.1_Intron|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	228					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTTTCCCATCGTCCATGCGG	0.557																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(682-684)Gat>Aat		RNA pseudouridylate synthase domain containing 4							121.0	109.0	113.0					11																	126075477		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126075477C>T	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.682G>A	11.37:g.126075477C>T	ENSP00000298317:p.Asp228Asn					RPUSD4_ENST00000533628.1_Intron|RPUSD4_ENST00000534393.1_5'UTR	p.D228N	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	5	735	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	228					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.682G>A	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	C	3.700	-0.061676	0.07317	.	.	ENSG00000165526	ENST00000298317	T	0.14516	2.5	5.72	-0.435	0.12279	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.902722	0.09786	N	0.756001	T	0.12135	0.0295	L	0.48218	1.51	0.23411	N	0.997736	B	0.06786	0.001	B	0.04013	0.001	T	0.35226	-0.9797	10	0.27785	T	0.31	-1.3144	9.4769	0.38878	0.0:0.5043:0.0:0.4957	.	228	Q96CM3	RUSD4_HUMAN	N	228	ENSP00000298317:D228N	ENSP00000298317:D228N	D	-	1	0	RPUSD4	125580687	0.000000	0.05858	0.223000	0.23860	0.107000	0.19398	-0.024000	0.12435	-0.096000	0.12329	-1.004000	0.02495	GAT		0.557	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		8	102	0	0	0	1	0	8	102				
CD1B	910	broad.mit.edu	37	1	158299224	158299224	+	Silent	SNP	C	C	T	rs367979289		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158299224C>T	ENST00000368168.3	-	4	929	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	274	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAGGCCAGCCGCCTCCCCAT	0.582																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(820-822)gcG>gcA		CD1b molecule		C		1,4405	2.1+/-5.4	0,1,2202	94.0	88.0	90.0		822	-8.1	0.0	1		90	0,8600		0,0,4300	no	coding-synonymous	CD1B	NM_001764.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		274/334	158299224	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299224C>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.822G>A	1.37:g.158299224C>T							p.A274A	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			4	929	-	all_hematologic(112;0.0378)		274			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	c.822G>A	CCDS1176.1																																																																																				0.582	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		5	214	0	0	0	1	0	5	214				
NEK4	6787	broad.mit.edu	37	3	52802575	52802575	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:52802575G>A	ENST00000233027.5	-	2	341	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	NEK4_ENST00000383721.4_Missense_Mutation_p.R47W|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	47	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GCAGCTCGCCGCTCTCGGCTA	0.453																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(139-141)Cgg>Tgg		NIMA-related kinase 4							107.0	104.0	105.0					3																	52802575		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52802575G>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.139C>T	3.37:g.52802575G>A	ENSP00000233027:p.Arg47Trp					NEK4_ENST00000383721.4_Missense_Mutation_p.R47W|NEK4_ENST00000535191.1_Intron	p.R47W	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	2	341	-			47			Protein kinase.		A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.139C>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809774	0.31961	.	.	ENSG00000114904	ENST00000233027;ENST00000383721	T;T	0.67171	-0.25;-0.25	5.73	4.82	0.62117	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	0.64402	D	0.000003	D	0.82365	0.5021	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85102	0.0958	10	0.87932	D	0	.	13.7533	0.62921	0.0:0.0:0.664:0.336	.	47;47	P51957-2;P51957	.;NEK4_HUMAN	W	47	ENSP00000233027:R47W;ENSP00000373227:R47W	ENSP00000233027:R47W	R	-	1	2	NEK4	52777615	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	2.970000	0.49240	1.355000	0.45865	0.563000	0.77884	CGG		0.453	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		5	106	0	0	0	1	0	5	106				
SLC26A11	284129	broad.mit.edu	37	17	78199637	78199637	+	Splice_Site	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:78199637A>G	ENST00000361193.3	+	6	795	c.515A>G	c.(514-516)aAc>aGc	p.N172S	SLC26A11_ENST00000572725.1_Splice_Site_p.N172S|SLC26A11_ENST00000411502.3_Splice_Site_p.N172S|SLC26A11_ENST00000546047.2_Splice_Site_p.N172S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTGGACAGAACCTGCTGGGA	0.587																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.e6-1		solute carrier family 26 (anion exchanger), member 11							189.0	154.0	166.0					17																	78199637		2203	4300	6503	SO:0001630	splice_region_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78199637A>G		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.514-1A>G	17.37:g.78199637A>G						SLC26A11_ENST00000411502.3_Splice_Site_p.N172_splice|SLC26A11_ENST00000572725.1_Splice_Site_p.N172_splice|SLC26A11_ENST00000546047.2_Splice_Site_p.N172_splice	p.N172_splice	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		6	795	+	all_neural(118;0.0538)		172						Splice_Site	SNP	ENST00000361193.3	37	c.513_splice	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	A	10.34	1.323931	0.24080	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92752	-3.1;-3.1;-3.1	3.56	3.56	0.40772	Sulphate transporter (1);	0.099482	0.64402	D	0.000003	T	0.82250	0.4996	N	0.16066	0.365	0.49213	D	0.99976	B	0.24132	0.098	B	0.27076	0.076	T	0.74569	-0.3622	10	0.14252	T	0.57	-19.0658	9.0998	0.36662	0.8155:0.1844:0.0:0.0	.	172	Q86WA9	S2611_HUMAN	S	172	ENSP00000403998:N172S;ENSP00000440724:N172S;ENSP00000355384:N172S	ENSP00000355384:N172S	N	+	2	0	SLC26A11	75814232	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.604000	0.67626	1.477000	0.48234	0.383000	0.25322	AAC		0.587	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1		Missense_Mutation	19	135	0	0	0	1	0	19	135				
SORL1	6653	broad.mit.edu	37	11	121429381	121429381	+	Silent	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:121429381G>C	ENST00000260197.7	+	20	2874	c.2745G>C	c.(2743-2745)ctG>ctC	p.L915L		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	915					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTATCACCTGGTGTCTGAGG	0.532																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2743-2745)ctG>ctC		sortilin-related receptor, L(DLR class) A repeats containing							235.0	207.0	216.0					11																	121429381		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121429381G>C	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2745G>C	11.37:g.121429381G>C							p.L915L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	20	2874	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	915					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.2745G>C	CCDS8436.1																																																																																				0.532	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		8	200	0	0	0	1	0	8	200				
CUL4A	8451	broad.mit.edu	37	13	113891149	113891149	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:113891149T>C	ENST00000375440.4	+	9	945	c.861T>C	c.(859-861)atT>atC	p.I287I	CUL4A_ENST00000375441.3_Silent_p.I187I|CUL4A_ENST00000451881.1_Silent_p.I187I|CUL4A_ENST00000326335.4_Silent_p.I187I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	287					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AACCACTGATTGCTTGTGTGG	0.358																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(559-561)atT>atC		cullin 4A							106.0	106.0	106.0					13																	113891149		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113891149T>C	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.861T>C	13.37:g.113891149T>C						CUL4A_ENST00000375441.3_Silent_p.I187I|CUL4A_ENST00000326335.4_Silent_p.I187I|CUL4A_ENST00000375440.4_Silent_p.I287I	p.I187I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		9	810	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	287					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.561T>C	CCDS41908.1																																																																																				0.358	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		3	56	0	0	0	1	0	3	56				
ALDH3A1	218	broad.mit.edu	37	17	19646621	19646621	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:19646621G>A	ENST00000457500.2	-	2	647	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ALDH3A1_ENST00000395555.3_Silent_p.G106G|ALDH3A1_ENST00000494157.2_Silent_p.G33G|ALDH3A1_ENST00000225740.6_Silent_p.G106G|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000444455.1_Silent_p.G106G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	106					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CGAGGACCACGCCCAGTGGCT	0.627																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(316-318)ggC>ggT		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						112.0	97.0	102.0					17																	19646621		2203	4300	6503	SO:0001819	synonymous_variant	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19646621G>A	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.318C>T	17.37:g.19646621G>A						ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000395555.3_Silent_p.G106G|ALDH3A1_ENST00000444455.1_Silent_p.G106G|ALDH3A1_ENST00000494157.2_Silent_p.G33G|ALDH3A1_ENST00000225740.6_Silent_p.G106G	p.G106G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	2	647	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		106					A8K828|Q9BT37	Silent	SNP	ENST00000457500.2	37	c.318C>T	CCDS11212.1																																																																																				0.627	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		4	80	0	0	0	1	0	4	80				
FOXQ1	94234	broad.mit.edu	37	6	1313391	1313391	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:1313391G>A	ENST00000296839.2	+	1	717	c.452G>A	c.(451-453)gGc>gAc	p.G151D		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	151					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TACCTCATGGGCAAGTTCCCC	0.652																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(451-453)gGc>gAc		forkhead box Q1							37.0	38.0	38.0					6																	1313391		2198	4291	6489	SO:0001583	missense	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter 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|ubiquitin conjugating enzyme binding	g.chr6:1313391G>A	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.452G>A	6.37:g.1313391G>A	ENSP00000296839:p.Gly151Asp						p.G151D	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	717	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	151					Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	c.452G>A	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	G	4.140	0.024242	0.08006	.	.	ENSG00000164379	ENST00000296839	D	0.95001	-3.58	3.87	0.879	0.19155	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.290116	0.28821	U	0.014040	T	0.59487	0.2197	N	0.00980	-1.08	0.32136	N	0.586073	P	0.35944	0.529	B	0.38921	0.285	T	0.67461	-0.5665	10	0.02654	T	1	.	5.1247	0.14878	0.1908:0.3273:0.4819:0.0	.	151	Q9C009	FOXQ1_HUMAN	D	151	ENSP00000296839:G151D	ENSP00000296839:G151D	G	+	2	0	FOXQ1	1258391	0.734000	0.28142	0.476000	0.27291	0.445000	0.32107	0.427000	0.21379	-0.151000	0.11176	0.184000	0.17185	GGC		0.652	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		4	65	0	0	0	1	0	4	65				
ARID1B	57492	broad.mit.edu	37	6	157522373	157522373	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:157522373C>G	ENST00000350026.5	+	17	4607	c.4606C>G	c.(4606-4608)Cac>Gac	p.H1536D	ARID1B_ENST00000346085.5_Missense_Mutation_p.H1549D|ARID1B_ENST00000275248.4_Missense_Mutation_p.H1531D|ARID1B_ENST00000367148.1_Missense_Mutation_p.H1589D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1536	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTGCCAAATCACATCTCCAG	0.597																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4645-4647)Cac>Gac		AT rich interactive domain 1B (SWI1-like)							135.0	131.0	132.0					6																	157522373		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522373C>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4606C>G	6.37:g.157522373C>G	ENSP00000055163:p.His1536Asp					ARID1B_ENST00000275248.4_Missense_Mutation_p.H1531D|ARID1B_ENST00000367148.1_Missense_Mutation_p.H1589D|ARID1B_ENST00000350026.5_Missense_Mutation_p.H1536D	p.H1549D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4646	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1536			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4645C>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443029	0.63067	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02301	4.66;4.67;4.66;4.66;4.35	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	T	0.19679	-1.0298	10	0.59425	D	0.04	.	18.5459	0.91045	0.0:1.0:0.0:0.0	.	1536;1549;1531	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	D	1549;1536;1589;1531;1058	ENSP00000344546:H1549D;ENSP00000055163:H1536D;ENSP00000356116:H1589D;ENSP00000275248:H1531D;ENSP00000412835:H1058D	ENSP00000275248:H1531D	H	+	1	0	ARID1B	157564065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.354000	0.79424	2.459000	0.83118	0.655000	0.94253	CAC		0.597	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		5	106	0	0	0	1	0	5	106				
KRI1	65095	broad.mit.edu	37	19	10671046	10671046	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:10671046G>A	ENST00000312962.6	-	9	779	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Missense_Mutation_p.R250C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	248	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tcctcATAGCGTTTGTTGAGG	0.552																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(760-762)Cgc>Tgc		KRI1 homolog (S. cerevisiae)							76.0	65.0	69.0					19																	10671046		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10671046G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.760C>T	19.37:g.10671046G>A	ENSP00000320917:p.Arg254Cys					KRI1_ENST00000361821.5_Missense_Mutation_p.R250C	p.R254C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		9	779	-			254			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.760C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492169	0.84962	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09538	3.14;2.97	5.36	3.06	0.35304	.	0.575472	0.17428	N	0.174578	T	0.29588	0.0738	M	0.73962	2.25	0.38175	D	0.939454	D;D	0.89917	1.0;1.0	P;P	0.62184	0.828;0.899	T	0.28618	-1.0038	10	0.54805	T	0.06	-14.9221	14.3394	0.66614	0.0:0.4219:0.578:0.0	.	254;250	Q8N9T8;D3YTE0	KRI1_HUMAN;.	C	254;250;254	ENSP00000320917:R254C;ENSP00000355366:R250C	ENSP00000320917:R254C	R	-	1	0	KRI1	10532046	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.774000	0.26675	1.197000	0.43143	0.563000	0.77884	CGC		0.552	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		6	50	0	0	0	1	0	6	50				
IGHV4-61	28391	broad.mit.edu	37	14	107095585	107095585	+	RNA	SNP	C	C	G	rs374786542		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:107095585C>G	ENST00000390630.2	-	0	77				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGGTCCAGGACTCTCAGAAAG	0.507																																						ENST00000390630.2																			0															C		23,3269		0,23,1623	16.0	32.0	27.0			0.7	0.0	14		27	9,7755		0,9,3873	no	intergenic				0,32,5496	GG,GC,CC		0.1159,0.6987,0.2894			107095585	32,11024	1646	3882	5528			0							g.chr14:107095585C>G	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095585C>G														0	77	-									RNA	SNP	ENST00000390630.2	37																																																																																						0.507	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		4	15	0	0	0	1	0	4	15				
SYCP1	6847	broad.mit.edu	37	1	115487052	115487052	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:115487052A>G	ENST00000369522.3	+	24	2259	c.2019A>G	c.(2017-2019)atA>atG	p.I673M	SYCP1_ENST00000369518.1_Missense_Mutation_p.I673M	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	673					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAAAGATATCAGAAGAAA	0.279																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2017-2019)atA>atG		synaptonemal complex protein 1							31.0	35.0	34.0					1																	115487052		2201	4281	6482	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115487052A>G	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2019A>G	1.37:g.115487052A>G	ENSP00000358535:p.Ile673Met					SYCP1_ENST00000369518.1_Missense_Mutation_p.I673M	p.I673M	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	24	2259	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	673					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2019A>G	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474237	0.26423	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56275	0.47;0.47;0.47	4.24	0.369	0.16151	.	0.993065	0.08200	N	0.982476	T	0.23171	0.0560	L	0.54323	1.7	0.20703	N	0.999867	B;B	0.12630	0.006;0.006	B;B	0.19666	0.026;0.026	T	0.33163	-0.9879	10	0.44086	T	0.13	0.0291	4.0177	0.09652	0.6736:0.0:0.1747:0.1517	.	673;673	B7ZLS9;Q15431	.;SYCP1_HUMAN	M	673	ENSP00000358535:I673M;ENSP00000410011:I673M;ENSP00000358531:I673M	ENSP00000358531:I673M	I	+	3	3	SYCP1	115288575	0.002000	0.14202	0.994000	0.49952	0.978000	0.69477	0.166000	0.16583	-0.143000	0.11334	0.533000	0.62120	ATA		0.279	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		4	23	0	0	0	1	0	4	23				
CLK4	57396	broad.mit.edu	37	5	178045583	178045583	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:178045583G>C	ENST00000316308.4	-	3	526	c.358C>G	c.(358-360)Cac>Gac	p.H120D	RN7SKP70_ENST00000516655.1_RNA|CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	120					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTTGAACAGTGTCTATTGCGC	0.403																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(358-360)Cac>Gac		CDC-like kinase 4							227.0	213.0	218.0					5																	178045583		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178045583G>C	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.358C>G	5.37:g.178045583G>C	ENSP00000316948:p.His120Asp					CLK4_ENST00000522749.1_5'UTR	p.H120D	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	3	526	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	120						Missense_Mutation	SNP	ENST00000316308.4	37	c.358C>G	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549117	0.27652	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.68025	-0.3	5.85	4.99	0.66335	.	0.198226	0.53938	D	0.000051	T	0.61999	0.2392	M	0.69823	2.125	0.80722	D	1	B;B;B;P;B	0.38922	0.065;0.003;0.018;0.651;0.001	B;B;B;B;B	0.30401	0.023;0.005;0.043;0.115;0.001	T	0.65772	-0.6087	10	0.51188	T	0.08	.	12.7983	0.57571	0.0792:0.0:0.9208:0.0	.	120;120;120;120;120	B7Z990;B7ZL31;Q4G0Z5;B9EG64;Q9HAZ1	.;.;.;.;CLK4_HUMAN	D	120	ENSP00000316948:H120D	ENSP00000316948:H120D	H	-	1	0	CLK4	177978189	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.512000	0.53407	1.483000	0.48342	-0.140000	0.14226	CAC		0.403	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			4	195	0	0	0	1	0	4	195				
MBL2	4153	broad.mit.edu	37	10	54531233	54531233	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:54531233T>C	ENST00000373968.3	-	1	227	c.163A>G	c.(163-165)Acc>Gcc	p.T55A		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	55	Collagen-like.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCTCCCTTGGTGCCATCACGC	0.537																																						ENST00000373968.3																			0				breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(163-165)Acc>Gcc		mannose-binding lectin (protein C) 2, soluble							137.0	123.0	128.0					10																	54531233		2203	4300	6503	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54531233T>C	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.163A>G	10.37:g.54531233T>C	ENSP00000363079:p.Thr55Ala						p.T55A	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN			1	227	-			55			Collagen-like.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.163A>G	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.853802	0.00558	.	.	ENSG00000165471	ENST00000373968	D	0.83506	-1.73	3.99	-5.58	0.02512	.	2.420760	0.01340	N	0.011544	T	0.51702	0.1690	N	0.01454	-0.855	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.54316	-0.8312	10	0.11794	T	0.64	0.3178	0.1657	0.00108	0.2504:0.1803:0.2482:0.3211	.	55	P11226	MBL2_HUMAN	A	55	ENSP00000363079:T55A	ENSP00000363079:T55A	T	-	1	0	MBL2	54201239	0.235000	0.23794	0.001000	0.08648	0.495000	0.33615	-0.219000	0.09228	-1.235000	0.02545	-1.093000	0.02169	ACC		0.537	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		10	81	0	0	0	1	0	10	81				
PCSK5	5125	broad.mit.edu	37	9	78938042	78938042	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78938042C>T	ENST00000545128.1	+	31	4634	c.4096C>T	c.(4096-4098)Cgc>Tgc	p.R1366C		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1366	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCAGACTCGCGCCACTGTGT	0.567																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4096-4098)Cgc>Tgc		proprotein convertase subtilisin/kexin type 5							29.0	27.0	27.0					9																	78938042		876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78938042C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4096C>T	9.37:g.78938042C>T	ENSP00000446280:p.Arg1366Cys						p.R1366C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			31	4634	+			631					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.4096C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700833	0.48307	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.29917	1.55;1.58	5.65	1.01	0.19927	.	0.871179	0.10360	N	0.684122	T	0.44664	0.1304	M	0.87456	2.885	0.09310	N	1	.	.	.	.	.	.	T	0.40515	-0.9559	8	0.56958	D	0.05	-12.1217	4.1222	0.10111	0.2707:0.3441:0.31:0.0752	.	.	.	.	C	1366;1096;1066	ENSP00000446280:R1366C;ENSP00000411654:R1066C	ENSP00000365945:R1096C	R	+	1	0	PCSK5	78127862	0.000000	0.05858	0.005000	0.12908	0.060000	0.15804	-0.086000	0.11233	0.290000	0.22444	-0.188000	0.12872	CGC		0.567	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	16	0	0	0	1	0	3	16				
NKAPL	222698	broad.mit.edu	37	6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(397-399)gCg>gTg		NFKB activating protein-like							99.0	106.0	104.0					6																	28227547		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227547C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.398C>T	6.37:g.28227547C>T	ENSP00000345716:p.Ala133Val						p.A133V	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	450	+			133					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.398C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873503	0.33069	.	.	ENSG00000189134	ENST00000343684	T	0.11930	2.73	5.1	4.23	0.50019	.	0.110110	0.64402	D	0.000008	T	0.04861	0.0131	M	0.79475	2.455	0.09310	N	1	P	0.48998	0.918	B	0.33799	0.17	T	0.31052	-0.9957	10	0.15066	T	0.55	-12.5193	9.4232	0.38563	0.0:0.9047:0.0:0.0953	.	133	Q5M9Q1	NKAPL_HUMAN	V	133	ENSP00000345716:A133V	ENSP00000345716:A133V	A	+	2	0	NKAPL	28335526	0.971000	0.33674	0.007000	0.13788	0.809000	0.45718	2.535000	0.45685	1.530000	0.49136	0.655000	0.94253	GCG		0.537	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			4	148	0	0	0	1	0	4	148				
UTY	7404	broad.mit.edu	37	Y	15522901	15522901	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrY:15522901A>G	ENST00000331397.4	-	6	1534	c.527T>C	c.(526-528)gTg>gCg	p.V176A	UTY_ENST00000382893.1_Missense_Mutation_p.V176A|UTY_ENST00000540140.1_Missense_Mutation_p.V176A|UTY_ENST00000545955.1_Missense_Mutation_p.V176A|UTY_ENST00000329134.5_Missense_Mutation_p.V176A|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000538878.1_Missense_Mutation_p.V176A|UTY_ENST00000537580.1_Missense_Mutation_p.V176A|UTY_ENST00000382896.4_Missense_Mutation_p.V176A|UTY_ENST00000362096.4_Missense_Mutation_p.V176A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	176					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						GTCTGTGTTCACTTTGAACAT	0.413																																					Colon(103;1740 2135 40732 45171)	ENST00000331397.4																			0				kidney(1)|lung(6)	7						c.(526-528)gTg>gCg		ubiquitously transcribed tetratricopeptide repeat containing, Y-linked																																				SO:0001583	missense	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15522901A>G	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.527T>C	Y.37:g.15522901A>G	ENSP00000328939:p.Val176Ala					UTY_ENST00000538878.1_Missense_Mutation_p.V176A|UTY_ENST00000329134.5_Missense_Mutation_p.V176A|UTY_ENST00000545955.1_Missense_Mutation_p.V176A|UTY_ENST00000537580.1_Missense_Mutation_p.V176A|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000540140.1_Missense_Mutation_p.V176A|UTY_ENST00000382893.1_Missense_Mutation_p.V176A|UTY_ENST00000382896.4_Missense_Mutation_p.V176A|UTY_ENST00000362096.4_Missense_Mutation_p.V176A	p.V176A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN			6	1534	-			176					A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	37	c.527T>C	CCDS14783.1																																																																																				0.413	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660		18	29	0	0	0	1	0	18	29				
CD1E	913	broad.mit.edu	37	1	158325321	158325321	+	Missense_Mutation	SNP	G	G	A	rs142840776		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158325321G>A	ENST00000368167.3	+	3	826	c.587G>A	c.(586-588)gGg>gAg	p.G196E	CD1E_ENST00000434258.1_Missense_Mutation_p.G194E|CD1E_ENST00000368163.3_Missense_Mutation_p.G196E|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.G97E|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G196E|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.G196E|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	196	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.G196E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTAGCGGGGCTCATGGAA	0.473																																						ENST00000444681.2																			1	Substitution - Missense(1)	p.G196E(1)	skin(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(289-291)gGg>gAg		CD1e molecule							45.0	45.0	45.0					1																	158325321		1911	4132	6043	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325321G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.587G>A	1.37:g.158325321G>A	ENSP00000357149:p.Gly196Glu					CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G196E|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G194E|CD1E_ENST00000368160.3_Missense_Mutation_p.G196E|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G196E|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G196E|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron	p.G97E	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			2	583	+	all_hematologic(112;0.0378)		196					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.290G>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803525	0.50315	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22;3.22	4.53	3.62	0.41486	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.300108	0.24262	N	0.040073	T	0.21022	0.0506	M	0.92784	3.345	0.09310	N	1	D;D;P;D;D;D;D	0.89917	0.998;0.985;0.886;0.997;0.979;1.0;0.999	D;P;P;D;P;D;D	0.78314	0.944;0.778;0.79;0.963;0.589;0.991;0.985	T	0.10917	-1.0609	10	0.66056	D	0.02	-7.9638	8.7344	0.34519	0.105:0.0:0.895:0.0	.	97;194;97;196;196;196;196	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	E	194;97;196;196;196;196	ENSP00000401957:G194E;ENSP00000402906:G97E;ENSP00000357149:G196E;ENSP00000357145:G196E;ENSP00000357142:G196E;ENSP00000357143:G196E	ENSP00000357142:G196E	G	+	2	0	CD1E	156591945	0.007000	0.16637	0.004000	0.12327	0.012000	0.07955	1.709000	0.37909	1.264000	0.44198	0.563000	0.77884	GGG		0.473	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		4	38	0	0	0	1	0	4	38				
LVRN	206338	broad.mit.edu	37	5	115298645	115298645	+	Silent	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:115298645C>T	ENST00000357872.4	+	1	455	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		111						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CGATCTGGAGCTGTGGCCGCA	0.701																																						ENST00000357872.4																			0											c.(331-333)Ctg>Ttg									36.0	42.0	40.0					5																	115298645		2200	4296	6496	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115298645C>T																												ENST00000357872.4:c.331C>T	5.37:g.115298645C>T						AQPEP_ENST00000395528.2_5'UTR	p.L111L	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			1	455	+			111					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.331C>T	CCDS4124.1																																																																																				0.701	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			17	77	0	0	0	1	0	17	77				
TG	7038	broad.mit.edu	37	8	133912511	133912511	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:133912511G>A	ENST00000220616.4	+	15	3400	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	TG_ENST00000377869.1_Silent_p.S1120S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1120	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCAGGCATCGGGGGCTGGCA	0.622																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3358-3360)tcG>tcA		thyroglobulin							60.0	52.0	54.0					8																	133912511		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133912511G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3360G>A	8.37:g.133912511G>A						TG_ENST00000377869.1_Silent_p.S1120S	p.S1120S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	15	3400	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1120			Thyroglobulin type-1 9.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.3360G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.126999	0.01770	.	.	ENSG00000042832	ENST00000518505	.	.	.	5.55	-11.1	0.00147	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	.	10.2821	0.43545	0.5849:0.263:0.1521:0.0	.	.	.	.	Q	87	.	.	R	+	2	0	TG	133981693	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.924000	0.01565	-3.693000	0.00120	-2.069000	0.00389	CGG		0.622	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	48	0	0	0	1	0	5	48				
HOXC4	3221	broad.mit.edu	37	12	54447735	54447735	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54447735C>G	ENST00000430889.2	+	1	75	c.29C>G	c.(28-30)tCt>tGt	p.S10C	HOXC4_ENST00000609810.1_Missense_Mutation_p.S10C|HOXC4_ENST00000303406.4_Missense_Mutation_p.S10C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	10					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TTGATGGACTCTAACTACATC	0.423																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(28-30)tCt>tGt		homeobox C4							93.0	92.0	92.0					12																	54447735		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54447735C>G		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.29C>G	12.37:g.54447735C>G	ENSP00000399808:p.Ser10Cys					HOXC4_ENST00000303406.4_Missense_Mutation_p.S10C	p.S10C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			1	75	+			10						Missense_Mutation	SNP	ENST00000430889.2	37	c.29C>G	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650783	0.67472	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	T;T	0.49432	0.78;0.78	3.41	3.41	0.39046	.	0.066141	0.64402	D	0.000008	T	0.68476	0.3005	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.75365	-0.3343	10	0.87932	D	0	.	14.7795	0.69754	0.0:1.0:0.0:0.0	.	10	P09017	HXC4_HUMAN	C	10	ENSP00000305973:S10C;ENSP00000399808:S10C	ENSP00000305973:S10C	S	+	2	0	HOXC4	52734002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.240000	0.78192	2.187000	0.69744	0.462000	0.41574	TCT		0.423	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			10	70	0	0	0	1	0	10	70				
ANKRD30A	91074	broad.mit.edu	37	10	37486405	37486405	+	Missense_Mutation	SNP	G	G	A	rs373533252		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:37486405G>A	ENST00000602533.1	+	29	2644	c.2545G>A	c.(2545-2547)Gca>Aca	p.A849T	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A968T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A849T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	905					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACATTGAGAGCAGGTACATT	0.328																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2902-2904)Gca>Aca		ankyrin repeat domain 30A		G	THR/ALA	1,3635		0,1,1817	112.0	98.0	102.0		2545	-2.7	0.0	10		102	1,8157		0,1,4078	no	missense	ANKRD30A	NM_052997.2	58	0,2,5895	AA,AG,GG		0.0123,0.0275,0.017	probably-damaging	849/1342	37486405	2,11792	1818	4079	5897	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486405G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2545G>A	10.37:g.37486405G>A	ENSP00000473551:p.Ala849Thr					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A849T|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A849T	p.A968T			Q9BXX3	AN30A_HUMAN			35	3001	+			1010					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2902G>A		.	.	.	.	.	.	.	.	.	.	.	2.013	-0.426563	0.04701	2.75E-4	1.23E-4	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.10668	2.85;2.85	1.36	-2.73	0.05950	.	.	.	.	.	T	0.07503	0.0189	N	0.11201	0.11	0.09310	N	1	P	0.49447	0.924	P	0.57776	0.827	T	0.08207	-1.0733	9	0.08837	T	0.75	.	2.4593	0.04537	0.0:0.2204:0.2981:0.4815	.	905	Q9BXX3	AN30A_HUMAN	T	849;968	ENSP00000354432:A849T;ENSP00000363792:A968T	ENSP00000354432:A849T	A	+	1	0	ANKRD30A	37526411	0.694000	0.27738	0.010000	0.14722	0.005000	0.04900	0.084000	0.14891	-1.101000	0.03027	-1.434000	0.01081	GCA		0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	69	0	0	0	1	0	7	69				
ZNF76	7629	broad.mit.edu	37	6	35255527	35255527	+	Missense_Mutation	SNP	G	G	A	rs547214677		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:35255527G>A	ENST00000373953.3	+	5	603	c.337G>A	c.(337-339)Gta>Ata	p.V113I	ZNF76_ENST00000440666.2_Missense_Mutation_p.V87I|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113I	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	113					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CATCCTGGCCGTACAGACAGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19851	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(337-339)Gta>Ata		zinc finger protein 76							106.0	92.0	96.0					6																	35255527		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35255527G>A	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.337G>A	6.37:g.35255527G>A	ENSP00000363064:p.Val113Ile					ZNF76_ENST00000339411.5_Missense_Mutation_p.V113I|ZNF76_ENST00000440666.2_Missense_Mutation_p.V87I	p.V113I	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			5	603	+			113					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.337G>A	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	G	0.575	-0.839308	0.02692	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.08546	3.1;3.17;3.08;3.16	5.17	4.31	0.51392	.	0.000000	0.38897	N	0.001531	T	0.01627	0.0052	L	0.31420	0.93	0.39574	D	0.969323	B;P;P;P	0.47677	0.05;0.88;0.899;0.861	B;B;B;B	0.38225	0.011;0.113;0.268;0.146	T	0.24870	-1.0148	10	0.05721	T	0.95	.	9.288	0.37769	0.1623:0.0:0.8377:0.0	.	113;113;113;113	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	I	113;113;113;113;87;113	ENSP00000419106:V113I;ENSP00000363064:V113I;ENSP00000392243:V87I;ENSP00000344097:V113I	ENSP00000229405:V113I	V	+	1	0	ZNF76	35363505	1.000000	0.71417	0.887000	0.34795	0.001000	0.01503	4.095000	0.57728	1.411000	0.46957	-0.140000	0.14226	GTA		0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		4	56	0	0	0	1	0	4	56				
NPAP1	23742	broad.mit.edu	37	15	24923452	24923452	+	Missense_Mutation	SNP	C	C	T	rs369894572		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:24923452C>T	ENST00000329468.2	+	1	2912	c.2438C>T	c.(2437-2439)gCa>gTa	p.A813V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	813					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCCTCTGCAGCATCGTTATCC	0.522																																						ENST00000329468.2																			0											c.(2437-2439)gCa>gTa		nuclear pore associated protein 1							136.0	131.0	132.0					15																	24923452		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923452C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2438C>T	15.37:g.24923452C>T	ENSP00000333735:p.Ala813Val						p.A813V	NM_018958.2	NP_061831.2					1	2912	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2438C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.688	1.151111	0.21371	.	.	ENSG00000185823	ENST00000329468	T	0.07688	3.17	1.26	-2.52	0.06346	.	.	.	.	.	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	B	0.30584	0.286	B	0.20577	0.03	T	0.37244	-0.9714	9	0.33141	T	0.24	.	0.3484	0.00345	0.2464:0.302:0.2455:0.2061	.	813	Q9NZP6	CO002_HUMAN	V	813	ENSP00000333735:A813V	ENSP00000333735:A813V	A	+	2	0	C15orf2	22474545	0.008000	0.16893	0.000000	0.03702	0.002000	0.02628	-0.172000	0.09868	-1.205000	0.02645	-0.310000	0.09108	GCA		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	160	0	0	0	1	0	5	160				
ITPR2	3709	broad.mit.edu	37	12	26985677	26985677	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:26985677T>C	ENST00000381340.3	-	1	454	c.38A>G	c.(37-39)gAc>gGc	p.D13G	ITPR2_ENST00000242737.5_Missense_Mutation_p.D13G	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	13					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGACACGATGTCCCCTATGTA	0.622																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(37-39)gAc>gGc		inositol 1,4,5-trisphosphate receptor, type 2							88.0	102.0	97.0					12																	26985677		2189	4300	6489	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26985677T>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.38A>G	12.37:g.26985677T>C	ENSP00000370744:p.Asp13Gly					ITPR2_ENST00000242737.5_Missense_Mutation_p.D13G	p.D13G	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			1	454	-	Colorectal(261;0.0847)		13					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.38A>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793047	0.90453	.	.	ENSG00000123104	ENST00000381340;ENST00000242737	D;D	0.99121	-5.45;-5.45	4.08	4.08	0.47627	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.048843	0.85682	D	0.000000	D	0.99342	0.9769	M	0.92833	3.35	0.58432	D	0.999992	D;D	0.71674	0.998;0.967	D;P	0.74674	0.984;0.847	D	0.98771	1.0728	10	0.72032	D	0.01	.	12.4962	0.55929	0.0:0.0:0.0:1.0	.	13;13	Q14571-2;Q14571	.;ITPR2_HUMAN	G	13	ENSP00000370744:D13G;ENSP00000242737:D13G	ENSP00000242737:D13G	D	-	2	0	ITPR2	26876944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.958000	0.76025	1.851000	0.53745	0.477000	0.44152	GAC		0.622	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		3	104	0	0	0	1	0	3	104				
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(742-744)Gcc>Acc		keratin 33A							65.0	59.0	61.0					17																	39503321		2203	4296	6499	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503321C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.742G>A	17.37:g.39503321C>T	ENSP00000007735:p.Ala248Thr						p.A248T	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			4	786	-		Breast(137;0.000496)	248			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.742G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	1.714	-0.498453	0.04291	.	.	ENSG00000006059	ENST00000007735	D	0.88741	-2.42	4.41	-0.427	0.12310	Filament (1);	0.385342	0.25264	N	0.031925	T	0.65037	0.2653	N	0.01505	-0.83	0.28797	N	0.898975	B	0.06786	0.001	B	0.06405	0.002	T	0.57423	-0.7814	10	0.17369	T	0.5	.	5.9195	0.19073	0.0:0.3508:0.1481:0.5011	.	248	O76009	KT33A_HUMAN	T	248	ENSP00000007735:A248T	ENSP00000007735:A248T	A	-	1	0	KRT33A	36756847	0.000000	0.05858	0.695000	0.30226	0.567000	0.35839	-1.415000	0.02469	-0.209000	0.10156	-0.471000	0.05019	GCC		0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		5	58	0	0	0	1	0	5	58				
CYP4F22	126410	broad.mit.edu	37	19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	rs146265982		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:15651449G>A	ENST00000269703.3	+	8	1059	c.860G>A	c.(859-861)cGt>cAt	p.R287H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R287H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	287						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	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)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(859-861)cGt>cAt		cytochrome P450, family 4, subfamily F, polypeptide 22							52.0	49.0	50.0					19																	15651449		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651449G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.860G>A	19.37:g.15651449G>A	ENSP00000269703:p.Arg287His					CYP4F22_ENST00000601005.2_Missense_Mutation_p.R287H	p.R287H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			8	1059	+			287					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.860G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770824	0.15983	.	.	ENSG00000171954	ENST00000269703	T	0.69435	-0.4	5.39	-8.26	0.01021	.	0.837839	0.11097	N	0.600125	T	0.41811	0.1175	N	0.16790	0.44	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.26710	-1.0095	10	0.49607	T	0.09	.	8.7882	0.34835	0.628:0.2224:0.1495:0.0	.	287	Q6NT55	CP4FN_HUMAN	H	287	ENSP00000269703:R287H	ENSP00000269703:R287H	R	+	2	0	CYP4F22	15512449	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.885000	0.01620	-1.278000	0.02408	-0.476000	0.04901	CGT		0.632	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		21	66	0	0	0	1	0	21	66				
MXD1	4084	broad.mit.edu	37	2	70164431	70164431	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:70164431A>T	ENST00000264444.2	+	5	643	c.383A>T	c.(382-384)cAc>cTc	p.H128L	MXD1_ENST00000540449.1_Missense_Mutation_p.H118L	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	128					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GAGCAGCGACACCTGAAGAGG	0.577																																						ENST00000264444.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(382-384)cAc>cTc		MAX dimerization protein 1							100.0	102.0	101.0					2																	70164431		2203	4300	6503	SO:0001583	missense	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70164431A>T		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.383A>T	2.37:g.70164431A>T	ENSP00000264444:p.His128Leu					MXD1_ENST00000540449.1_Missense_Mutation_p.H118L	p.H128L	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN			5	643	+			128					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	ENST00000264444.2	37	c.383A>T	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047255	0.55110	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.42513	1.66;1.66;0.97	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (2);	0.045494	0.85682	D	0.000000	T	0.38772	0.1053	M	0.67953	2.075	0.80722	D	1	P;P;P	0.47409	0.895;0.895;0.895	B;B;B	0.36666	0.23;0.23;0.23	T	0.33420	-0.9869	10	0.18276	T	0.48	.	15.2477	0.73517	1.0:0.0:0.0:0.0	.	118;128;128	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	L	96;128;118	ENSP00000410672:H96L;ENSP00000264444:H128L;ENSP00000443935:H118L	ENSP00000264444:H128L	H	+	2	0	MXD1	70017935	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.412000	0.80091	2.279000	0.76181	0.533000	0.62120	CAC		0.577	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		5	113	0	0	0	1	0	5	113				
SPRR2F	6705	broad.mit.edu	37	1	153085129	153085129	+	Silent	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:153085129A>G	ENST00000468739.1	-	2	141	c.81T>C	c.(79-81)tgT>tgC	p.C27C	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	27	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGGGGGTGGACATGGCTCTG	0.607																																						ENST00000468739.1																			0				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(79-81)tgT>tgC		small proline-rich protein 2F							135.0	118.0	124.0					1																	153085129		2203	4297	6500	SO:0001819	synonymous_variant	0				keratinization	cornified envelope|cytoplasm		g.chr1:153085129A>G	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.81T>C	1.37:g.153085129A>G						SPRR2B_ENST00000368752.4_Intron	p.C27C	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	141	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		27			3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.		Q5T9T3	Silent	SNP	ENST00000468739.1	37	c.81T>C	CCDS30867.1																																																																																				0.607	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1			6	333	0	0	0	1	0	6	333				
CPD	1362	broad.mit.edu	37	17	28706125	28706125	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:28706125A>G	ENST00000225719.4	+	1	203	c.127A>G	c.(127-129)Act>Gct	p.T43A	CPD_ENST00000543464.2_5'Flank	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	43	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GACTACCACAACTACGAGCGC	0.706																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(127-129)Act>Gct		carboxypeptidase D							3.0	4.0	4.0					17																	28706125		1887	3914	5801	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28706125A>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.127A>G	17.37:g.28706125A>G	ENSP00000225719:p.Thr43Ala						p.T43A	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			1	203	+			43			Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.127A>G	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	A	7.343	0.621329	0.14193	.	.	ENSG00000108582	ENST00000225719	T	0.17854	2.25	4.28	0.511	0.16989	.	0.386991	0.20357	N	0.093923	T	0.05181	0.0138	N	0.08118	0	0.26974	N	0.96553	B	0.02656	0.0	B	0.01281	0.0	T	0.32666	-0.9898	10	0.09843	T	0.71	.	0.8846	0.01241	0.4852:0.2044:0.1132:0.1972	.	43	O75976	CBPD_HUMAN	A	43	ENSP00000225719:T43A	ENSP00000225719:T43A	T	+	1	0	CPD	25730251	0.934000	0.31675	0.956000	0.39512	0.157000	0.22087	1.665000	0.37449	0.623000	0.30267	0.467000	0.42956	ACT		0.706	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		2	2	0	0	0	1	0	2	2				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>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.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	68	0	0	0	1	0	3	68				
ARID1A	8289	broad.mit.edu	37	1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-	rs377622327		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:27100176delC	ENST00000324856.7	+	16	4343	c.3972delC	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y941fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y1324fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1324					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTAGCCGCTACCCCCCgcagc	0.597			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Nonsense(1)	p.Y1324*(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3970-3972)tafs		AT rich interactive domain 1A (SWI-like)							53.0	59.0	57.0					1																	27100176		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100176delC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3972delC	1.37:g.27100176delC	ENSP00000320485:p.Tyr1324fs					ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y1324fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y941fs	p.Y1324fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4343	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1324					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.3972delC	CCDS285.1																																																																																				0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		23	131						23	131	---	---	---	---
RP11-418J17.3	0	broad.mit.edu	37	1	119822674	119822674	+	lincRNA	DEL	C	C	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:119822674delC	ENST00000457719.1	-	0	483																											TTCCCCCCGGCCCCCCACAAC	0.522																																						ENST00000457719.1																			0																																																			0							g.chr1:119822674delC																													1.37:g.119822674delC														0	483	-									RNA	DEL	ENST00000457719.1	37																																																																																						0.522	RP11-418J17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000034533.1			2	4						2	4	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		8	84						8	84	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			4	8						4	8	---	---	---	---
CAD	790	broad.mit.edu	37	2	27462334	27462334	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:27462334delG	ENST00000403525.1	+	32	5344	c.5200delG	c.(5200-5202)gggfs	p.G1734fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.G1797fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATATCGATGGGCAGGTACG	0.567																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(5389-5391)ggfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						71.0	61.0	64.0					2																	27462334		2203	4300	6503	SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27462334delG	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5200delG	2.37:g.27462334delG	ENSP00000384510:p.Gly1734fs					CAD_ENST00000403525.1_Frame_Shift_Del_p.G1734fs	p.G1797fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			33	5551	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1797			Linker.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	ENST00000403525.1	37	c.5389delG																																																																																					0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			25	69						25	69	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127782200	127782203	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:127782200_127782203delTGTT	ENST00000508053.1	-	13	1897_1900	c.923_926delAACA	c.(922-927)aaacagfs	p.KQ308fs	FBN2_ENST00000508989.1_Frame_Shift_Del_p.KQ275fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.KQ308fs			P35556	FBN2_HUMAN	fibrillin 2	308	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTTTCACTCTGTTTGTGACCAGC	0.426																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(922-927)agfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127782200_127782203delTGTT	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.923_926delAACA	5.37:g.127782200_127782203delTGTT	ENSP00000424571:p.Lys308fs					FBN2_ENST00000262464.4_Frame_Shift_Del_p.KQ308fs|FBN2_ENST00000508989.1_Frame_Shift_Del_p.KQ275fs	p.KQ308fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	13	1897_1900	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	308			EGF-like 4; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	c.923_926delAACA	CCDS34222.1																																																																																				0.426	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		16	75						16	75	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123759208	123759209	+	Splice_Site	INS	-	-	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:123759208_123759209insT	ENST00000398178.3	-	12	1071_1072	c.1050_1051insA	c.(1048-1053)aaagag>aaaAgag	p.E351fs	RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Splice_Site_p.E351fs|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	351					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGTGCAATACCTTTTTTTTCCA	0.337																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.e12+1		triadin																																				SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123759208_123759209insT	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1051+1->A	6.37:g.123759216_123759216dupT						TRDN_ENST00000398178.3_Splice_Site_p.A351_splice	p.A351_splice			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	12	1367_1368	-			351					A5D6W5|F5H2W7|Q6NSB8	Splice_Site	INS	ENST00000398178.3	37	c.1051_splice	CCDS55053.1																																																																																				0.337	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Frame_Shift_Ins	4	7						4	7	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131229973	131229976	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:131229973_131229976delTCTT	ENST00000337057.3	-	5	1019_1022	c.838_841delAAGA	c.(838-843)aagagafs	p.KR280fs	EPB41L2_ENST00000527411.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000528282.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525271.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000445890.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000527659.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000530481.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000368128.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000529208.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525193.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000392427.3_Frame_Shift_Del_p.KR280fs	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	280	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCAGTTGTCTCTTTATTTCTTTA	0.284																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(838-843)gafs		erythrocyte membrane protein band 4.1-like 2																																				SO:0001589	frameshift_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131229973_131229976delTCTT	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.838_841delAAGA	6.37:g.131229973_131229976delTCTT	ENSP00000338481:p.Lys280fs					EPB41L2_ENST00000527659.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000527411.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525271.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000368128.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000530481.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000445890.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000529208.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000392427.3_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000528282.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525193.1_Frame_Shift_Del_p.KR280fs	p.KR280fs	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	5	1019_1022	-	Breast(56;0.0639)		280			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Frame_Shift_Del	DEL	ENST00000337057.3	37	c.838_841delAAGA	CCDS5141.1																																																																																				0.284	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			16	39						16	39	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			0							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	4						3	4	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51585027	51585029	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:51585027_51585029delAAG	ENST00000443446.1	+	8	1355_1357	c.1126_1128delAAG	c.(1126-1128)aagdel	p.K377del	NCOA4_ENST00000414907.2_In_Frame_Del_p.K211del|NCOA4_ENST00000344348.6_In_Frame_Del_p.K377del|NCOA4_ENST00000430396.2_In_Frame_Del_p.K277del|NCOA4_ENST00000374082.1_In_Frame_Del_p.K377del|NCOA4_ENST00000438493.1_In_Frame_Del_p.K393del|NCOA4_ENST00000452682.1_In_Frame_Del_p.K393del|NCOA4_ENST00000374087.4_In_Frame_Del_p.K377del	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	377					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTTGGAGGCCAAGAAACCATTGT	0.522			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1174-1176)del		nuclear receptor coactivator 4																																				SO:0001651	inframe_deletion	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51585027_51585029delAAG	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1126_1128delAAG	10.37:g.51585027_51585029delAAG	ENSP00000390713:p.Lys377del					NCOA4_ENST00000344348.6_In_Frame_Del_p.K377del|NCOA4_ENST00000374082.1_In_Frame_Del_p.K377del|NCOA4_ENST00000443446.1_In_Frame_Del_p.K377del|NCOA4_ENST00000374087.4_In_Frame_Del_p.K377del|NCOA4_ENST00000414907.2_In_Frame_Del_p.K211del|NCOA4_ENST00000430396.2_In_Frame_Del_p.K277del|NCOA4_ENST00000438493.1_In_Frame_Del_p.K393del	p.K393del	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1426_1428	+			377					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	In_Frame_Del	DEL	ENST00000443446.1	37	c.1174_1176delAAG	CCDS7237.1																																																																																				0.522	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		13	22						13	22	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63845531	63845531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:63845531delA	ENST00000279873.7	+	9	1680	c.1270delA	c.(1270-1272)aaafs	p.K424fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K181fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	424					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAACCTCGGAAACAGGAGAA	0.358																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1270-1272)aafs		AT rich interactive domain 5B (MRF1-like)							124.0	131.0	129.0					10																	63845531		2203	4300	6503	SO:0001589	frameshift_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63845531delA	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1270delA	10.37:g.63845531delA	ENSP00000279873:p.Lys424fs					ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K181fs	p.K424fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			9	1680	+	Prostate(12;0.016)|all_hematologic(501;0.215)		424					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	c.1270delA	CCDS31208.1																																																																																				0.358	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		58	92						58	92	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75557692	75557693	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:75557692_75557693delAG	ENST00000605216.1	+	19	4018_4019	c.3801_3802delAG	c.(3799-3804)tcagggfs	p.G1269fs	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Frame_Shift_Del_p.G1274fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.G1269fs|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.G1236fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.G1274fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1269							zinc ion binding (GO:0008270)										CATCTTCCTCAGGGGGCCACCA	0.564																																						ENST00000604729.1																			0											c.(3814-3819)tcggfs		zinc finger, SWIM-type containing 8																																				SO:0001589	frameshift_variant	23053							g.chr10:75557692_75557693delAG	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3801_3802delAG	10.37:g.75557692_75557693delAG	ENSP00000474748:p.Gly1269fs					ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.SG1267fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.SG1234fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.SG1267fs|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.SG1272fs	p.SG1272fs							19	4113_4114	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Del	DEL	ENST00000605216.1	37	c.3816_3817delAG																																																																																					0.564	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		30	211						30	211	---	---	---	---
CDON	50937	broad.mit.edu	37	11	125891236	125891237	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:125891236_125891237delAA	ENST00000392693.3	-	3	382_383	c.255_256delTT	c.(253-258)ctttctfs	p.S86fs	CDON_ENST00000263577.7_Frame_Shift_Del_p.S86fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	86	Ig-like C2-type 1.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GAGTTGAGAGAAAGAATTGTCA	0.475																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(253-258)ctctfs		cell adhesion associated, oncogene regulated																																				SO:0001589	frameshift_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125891236_125891237delAA	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.255_256delTT	11.37:g.125891236_125891237delAA	ENSP00000376458:p.Ser86fs					CDON_ENST00000263577.7_Frame_Shift_Del_p.LS85fs	p.LS85fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	3	382_383	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	85			Ig-like C2-type 1.		O14631	Frame_Shift_Del	DEL	ENST00000392693.3	37	c.255_256delTT	CCDS58192.1																																																																																				0.475	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		19	74						19	74	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71050530	71050532	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:71050530_71050532delCTT	ENST00000283228.2	-	13	2284_2286	c.1832_1834delAAG	c.(1831-1836)gaagga>gga	p.E611del	PTPRR_ENST00000549308.1_In_Frame_Del_p.E366del|PTPRR_ENST00000378778.1_In_Frame_Del_p.E405del|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000342084.4_In_Frame_Del_p.E499del|PTPRR_ENST00000440835.2_In_Frame_Del_p.E366del	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	611	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCACAACTCCTTCTTCTTTCAG	0.433																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1831-1836)gga>g		protein tyrosine phosphatase, receptor type, R																																				SO:0001651	inframe_deletion	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71050530_71050532delCTT	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1832_1834delAAG	12.37:g.71050536_71050538delCTT	ENSP00000283228:p.Glu611del					PTPRR_ENST00000378778.1_In_Frame_Del_p.EG405del|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000549308.1_In_Frame_Del_p.EG366del|PTPRR_ENST00000440835.2_In_Frame_Del_p.EG366del|PTPRR_ENST00000342084.4_In_Frame_Del_p.EG499del	p.EG611del	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	13	2284_2286	-			611			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	In_Frame_Del	DEL	ENST00000283228.2	37	c.1832_1834delAAG	CCDS8998.1																																																																																				0.433	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		43	159						43	159	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122773037	122773037	+	Splice_Site	DEL	T	T	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:122773037delT	ENST00000540338.1	-	20	3687	c.3646delA	c.(3646-3648)aga>ga	p.R1216fs	CLIP1_ENST00000361654.4_Splice_Site_p.R1094fs|CLIP1_ENST00000358808.2_Splice_Site_p.R1205fs|CLIP1_ENST00000545889.1_Splice_Site_p.R791fs|CLIP1_ENST00000537178.1_Splice_Site_p.R1170fs|CLIP1_ENST00000302528.7_Splice_Site_p.R1205fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1216					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAAGCTTACCTTTTTTTCATT	0.333																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.e20+1		CAP-GLY domain containing linker protein 1			,	78,4184		37,4,2090	115.0	115.0	115.0		,	5.2	1.0	12		113	183,8065		89,5,4030	no	frameshift-near-splice,frameshift-near-splice	CLIP1	NM_198240.1,NM_002956.2	,	126,9,6120	A1A1,A1R,RR		2.2187,1.8301,2.0863	,	,	122773037	261,12249	2202	4297	6499	SO:0001630	splice_region_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122773037delT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3647+1A>-	12.37:g.122773037delT						CLIP1_ENST00000540338.1_Splice_Site_p.R1216_splice|CLIP1_ENST00000361654.4_Splice_Site_p.R1094_splice|CLIP1_ENST00000302528.7_Splice_Site_p.R1205_splice|CLIP1_ENST00000545889.1_Splice_Site_p.R791_splice|CLIP1_ENST00000537178.1_Splice_Site_p.R1170_splice	p.R1205_splice	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	20	3767	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1216					A0AVD3|Q17RS4|Q29RG0	Splice_Site	DEL	ENST00000540338.1	37	c.3614_splice	CCDS58285.1																																																																																				0.333	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	Frame_Shift_Del	7	16						7	16	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58605972	58605974	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:58605972_58605974delCCT	ENST00000267485.7	-	2	297_299	c.103_105delAGG	c.(103-105)aggdel	p.R35del	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	35						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGCTATCTCCCTCCTCCTTTCT	0.478																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(103-105)del		chromosome 14 open reading frame 37																																				SO:0001651	inframe_deletion	145407					integral to membrane	binding	g.chr14:58605972_58605974delCCT		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.103_105delAGG	14.37:g.58605978_58605980delCCT	ENSP00000267485:p.Arg35del					C14orf37_ENST00000334342.5_5'UTR	p.R35del	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	297_299	-			35					A8K8Z8|Q6P5Q1|Q86TY1	In_Frame_Del	DEL	ENST00000267485.7	37	c.103_105delAGG	CCDS32089.1																																																																																				0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		36	110						36	110	---	---	---	---
TRAF4	9618	broad.mit.edu	37	17	27076467	27076468	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:27076467_27076468delGA	ENST00000262395.5	+	7	1414_1415	c.1285_1286delGA	c.(1285-1287)gagfs	p.E429fs	TRAF4_ENST00000444415.3_Intron|AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000262396.6_Splice_Site	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	429	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTCCCTGGATGAGAGTTCTCTG	0.554																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1285-1287)gfs		TNF receptor-associated factor 4																																				SO:0001589	frameshift_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27076467_27076468delGA	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1285_1286delGA	17.37:g.27076469_27076470delGA	ENSP00000262395:p.Glu429fs					TRAF4_ENST00000444415.3_Intron|TRAF4_ENST00000262396.6_Splice_Site	p.E429fs	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		7	1414_1415	+	Lung NSC(42;0.01)		429			MATH.		O75615|Q14848|Q2KJU4|Q2PJN8	Frame_Shift_Del	DEL	ENST00000262395.5	37	c.1285_1286delGA	CCDS11243.1																																																																																				0.554	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		8	92						8	92	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:11106926_11106928delAGA	ENST00000429416.3	+	11	1912_1914	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000358026.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546			Missing (in MRD16). {ECO:0000269|PubMed:22426308}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1630-1635)cag>c		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4																																				SO:0001651	inframe_deletion	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11106926_11106928delAGA	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1631_1633delAGA	19.37:g.11106929_11106931delAGA	ENSP00000395654:p.Lys546del					SMARCA4_ENST00000429416.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.QK544del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.QK544del	p.QK544del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			10	1915_1917	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	544					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	ENST00000429416.3	37	c.1631_1633delAGA	CCDS12253.1																																																																																				0.576	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		29	146						29	146	---	---	---	---
GADD45GIP1	90480	broad.mit.edu	37	19	13065273	13065275	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:13065273_13065275delGCT	ENST00000316939.1	-	2	439_441	c.416_418delAGC	c.(415-420)cagcgg>cgg	p.Q139del		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	139	Poly-Gln.				cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CAGTTCTCCCGCTGCTGCTGCTG	0.635																																						ENST00000316939.1																			0				ovary(2)|prostate(1)|skin(1)	4						c.(415-420)cgg>c		growth arrest and DNA-damage-inducible, gamma interacting protein 1																																				SO:0001651	inframe_deletion	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065273_13065275delGCT	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.416_418delAGC	19.37:g.13065282_13065284delGCT	ENSP00000323065:p.Gln139del						p.QR139del	NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN			2	439_441	-			139			Poly-Gln.		Q8IVM3|Q8TE51|Q969P9|Q9BSM6	In_Frame_Del	DEL	ENST00000316939.1	37	c.416_418delAGC	CCDS12290.1																																																																																				0.635	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		7	115						7	115	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21146788	21146789	+	RNA	INS	-	-	T	rs34056823|rs76065274	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:21146788_21146789insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							tgtattttGTATTTTTTTTTTT	0.401													|||unknown(HR)	2147	0.428714	0.3328	0.4222	5008	,	,		19058	0.4216		0.4423	False		,,,				2504	0.5562					ENST00000591761.1																			0																																																			0							g.chr20:21146788_21146789insT																													20.37:g.21146799_21146799dupT						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	INS	ENST00000591761.1	37																																																																																						0.401	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			3	5						3	5	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76875860	76875861	+	Splice_Site	DEL	CA	CA	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:76875860_76875861delCA	ENST00000373344.5	-	20	5487		c.e20+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GATATTAACTCACACTCAATTA	0.317			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e20+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875860_76875861delCA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5272+1TG>-	X.37:g.76875862_76875863delCA						ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			20	5487	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	DEL	ENST00000373344.5	37		CCDS14434.1																																																																																				0.317	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	9	34						9	34	---	---	---	---
