#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
TRAJ45	28710	broad.mit.edu	37	14	22964913	22964913	+	RNA	SNP	C	C	T	rs370648856		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr14:22964913C>T	ENST00000390492.1	+	0	66				TRAJ41_ENST00000390496.1_RNA|TRAJ44_ENST00000390493.1_RNA|TRAJ43_ENST00000390494.1_RNA|TRAJ42_ENST00000390495.1_RNA|TRAJ46_ENST00000390491.1_RNA					T cell receptor alpha joining 45																		CAATGACATGCGCTTTGGAGC	0.498																																						ENST00000390494.1																			0															C		0,3868		0,0,1934	139.0	127.0	131.0			-0.7	0.0	14		131	1,8249		0,1,4124	no	intergenic				0,1,6058	TT,TC,CC		0.0121,0.0,0.0083			22964913	1,12117	1934	4125	6059			0							g.chr14:22964913C>T	M94081		14q11.2	2012-02-07			ENSG00000211844	ENSG00000211844		"""T cell receptors / TRA locus"""	12076	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170922		14.37:g.22964913C>T														0	18	+									RNA	SNP	ENST00000390492.1	37																																																																																						0.498	TRAJ45-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410953.1	NG_001332		13	91	0	0	0	1	0	13	91				
XKR4	114786	broad.mit.edu	37	8	56015725	56015725	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:56015725C>T	ENST00000327381.6	+	1	777	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	226						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AACATCGCCGCGGCCAACAGC	0.652																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(676-678)gCg>gTg		XK, Kell blood group complex subunit-related family, member 4							39.0	41.0	41.0					8																	56015725		2202	4298	6500	SO:0001583	missense	114786					integral to membrane		g.chr8:56015725C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.677C>T	8.37:g.56015725C>T	ENSP00000328326:p.Ala226Val						p.A226V	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	777	+			226					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.677C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527749	0.44969	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83673	-1.75	4.91	4.91	0.64330	.	0.793328	0.11395	N	0.568386	T	0.64594	0.2612	N	0.08118	0	0.23082	N	0.998328	P	0.43750	0.816	B	0.35655	0.207	T	0.54207	-0.8328	10	0.30854	T	0.27	-8.609	9.9568	0.41671	0.2132:0.6574:0.1295:0.0	.	226	Q5GH76	XKR4_HUMAN	V	226	ENSP00000328326:A226V	ENSP00000328326:A226V	A	+	2	0	XKR4	56178279	0.990000	0.36364	0.117000	0.21633	0.927000	0.56198	1.929000	0.40114	2.551000	0.86045	0.555000	0.69702	GCG		0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		4	85	0	0	0	1	0	4	85				
ZNF831	128611	broad.mit.edu	37	20	57767498	57767498	+	Missense_Mutation	SNP	C	C	T	rs139591279		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr20:57767498C>T	ENST00000371030.2	+	1	1424	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	475							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T475M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCACCTGGACGCCCCCAGAC	0.672																																						ENST00000371030.2																			1	Substitution - Missense(1)	p.T475M(1)	skin(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1423-1425)aCg>aTg		zinc finger protein 831		C	MET/THR	0,3984		0,0,1992	34.0	40.0	38.0		1424	2.0	0.0	20	dbSNP_134	38	1,8307		0,1,4153	no	missense	ZNF831	NM_178457.1	81	0,1,6145	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	475/1678	57767498	1,12291	1992	4154	6146	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767498C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1424C>T	20.37:g.57767498C>T	ENSP00000360069:p.Thr475Met						p.T475M	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1424	+	all_lung(29;0.0085)		475					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1424C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333017	0.24167	0.0	1.2E-4	ENSG00000124203	ENST00000371030	T	0.11821	2.74	5.21	2.04	0.26737	.	.	.	.	.	T	0.22936	0.0554	M	0.69823	2.125	0.09310	N	1	D	0.76494	0.999	P	0.51806	0.68	T	0.08868	-1.0701	9	0.87932	D	0	0.4712	6.8048	0.23772	0.1416:0.7051:0.0:0.1532	.	475	Q5JPB2	ZN831_HUMAN	M	475	ENSP00000360069:T475M	ENSP00000360069:T475M	T	+	2	0	ZNF831	57200893	0.001000	0.12720	0.000000	0.03702	0.355000	0.29361	1.145000	0.31577	0.585000	0.29608	0.655000	0.94253	ACG		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		13	96	0	0	0	1	0	13	96				
EP300	2033	broad.mit.edu	37	22	41573200	41573200	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:41573200C>T	ENST00000263253.7	+	31	6704	c.5485C>T	c.(5485-5487)Cgc>Tgc	p.R1829C	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1829					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAATGCTTCGCAGGAGGAT	0.607			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5485-5487)Cgc>Tgc		E1A binding protein p300							61.0	65.0	64.0					22																	41573200		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573200C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5485C>T	22.37:g.41573200C>T	ENSP00000263253:p.Arg1829Cys					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.R1829C	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	6704	+			1829					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5485C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582139	0.28180	.	.	ENSG00000100393	ENST00000263253	D	0.87179	-2.22	5.62	4.61	0.57282	.	0.000000	0.47455	D	0.000226	D	0.86977	0.6063	M	0.81497	2.545	0.54753	D	0.999985	B	0.28850	0.225	B	0.20184	0.028	D	0.86322	0.1693	10	0.87932	D	0	-8.5149	14.5676	0.68188	0.0:0.9297:0.0:0.0703	.	1829	Q09472	EP300_HUMAN	C	1829	ENSP00000263253:R1829C	ENSP00000263253:R1829C	R	+	1	0	EP300	39903146	1.000000	0.71417	0.997000	0.53966	0.351000	0.29236	4.968000	0.63728	1.382000	0.46385	-0.258000	0.10820	CGC		0.607	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		12	126	0	0	0	1	0	12	126				
KLHL12	59349	broad.mit.edu	37	1	202861726	202861726	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:202861726C>T	ENST00000367261.3	-	12	1860	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E586K|KLHL12_ENST00000367259.1_3'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	548	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCACGACTTCCCAGCTGTCG	0.478																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1642-1644)Gaa>Aaa		kelch-like family member 12							125.0	99.0	108.0					1																	202861726		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202861726C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1642G>A	1.37:g.202861726C>T	ENSP00000356230:p.Glu548Lys					KLHL12_ENST00000435533.3_Missense_Mutation_p.E586K|KLHL12_ENST00000367259.1_3'UTR	p.E548K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		12	1860	-			548			Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.1642G>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728497	0.48833	.	.	ENSG00000117153	ENST00000367261;ENST00000435533	T;T	0.80393	-1.37;-1.37	5.04	5.04	0.67666	Galactose oxidase, beta-propeller (1);	0.228533	0.45867	D	0.000332	T	0.68723	0.3032	N	0.21448	0.665	0.80722	D	1	B;B	0.20052	0.041;0.016	B;B	0.23018	0.043;0.015	T	0.64433	-0.6409	10	0.05959	T	0.93	.	18.7603	0.91848	0.0:1.0:0.0:0.0	.	586;548	B7Z7B8;Q53G59	.;KLH12_HUMAN	K	548;586	ENSP00000356230:E548K;ENSP00000416886:E586K	ENSP00000356230:E548K	E	-	1	0	KLHL12	201128349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.765000	0.85310	2.482000	0.83794	0.484000	0.47621	GAA		0.478	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		9	79	0	0	0	1	0	9	79				
SCARB1	949	broad.mit.edu	37	12	125299595	125299595	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:125299595C>T	ENST00000415380.2	-	3	475	c.350G>A	c.(349-351)cGc>cAc	p.R117H	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000540495.1_Missense_Mutation_p.R80H|SCARB1_ENST00000339570.5_Missense_Mutation_p.R117H|SCARB1_ENST00000541205.1_Missense_Mutation_p.R76H|SCARB1_ENST00000544327.1_Missense_Mutation_p.R63H|SCARB1_ENST00000261693.6_Missense_Mutation_p.R117H|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000546215.1_Missense_Mutation_p.R117H			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	117					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTGGAAGGTGCGGTACTCGAG	0.612																																						ENST00000339570.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(349-351)cGc>cAc		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						401.0	290.0	328.0					12																	125299595		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125299595C>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.350G>A	12.37:g.125299595C>T	ENSP00000414979:p.Arg117His					SCARB1_ENST00000261693.6_Missense_Mutation_p.R117H|SCARB1_ENST00000541205.1_Missense_Mutation_p.R76H|SCARB1_ENST00000540495.1_Missense_Mutation_p.R80H|SCARB1_ENST00000544327.1_Missense_Mutation_p.R63H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.R117H|SCARB1_ENST00000546215.1_Missense_Mutation_p.R117H|SCARB1_ENST00000376788.1_Intron	p.R117H	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	3	546	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		117					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.350G>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.303627	0.81136	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.7	4.7	0.59300	.	0.112184	0.64402	D	0.000008	D	0.86100	0.5852	M	0.77712	2.385	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;P;D	0.75484	0.97;0.959;0.986;0.986;0.899;0.959	D	0.88251	0.2916	10	0.72032	D	0.01	-17.2456	16.6474	0.85180	0.0:1.0:0.0:0.0	.	76;117;117;117;117;117	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	H	117;117;117;117;76;63;80;117	ENSP00000343795:R117H;ENSP00000414979:R117H;ENSP00000261693:R117H;ENSP00000442862:R117H;ENSP00000446107:R76H;ENSP00000444851:R63H;ENSP00000443286:R80H;ENSP00000443454:R117H	ENSP00000261693:R117H	R	-	2	0	SCARB1	123865548	1.000000	0.71417	0.597000	0.28824	0.485000	0.33311	7.147000	0.77382	2.162000	0.67917	0.491000	0.48974	CGC		0.612	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		4	69	0	0	0	1	0	4	69				
OR4D10	390197	broad.mit.edu	37	11	59245336	59245336	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:59245336C>G	ENST00000530162.1	+	1	491	c.434C>G	c.(433-435)aCa>aGa	p.T145R		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T145I(1)|p.T143I(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGGGCTCACAGTGGCTGCC	0.517																																						ENST00000530162.1																			2	Substitution - Missense(2)	p.T145I(1)|p.T143I(1)	lung(2)	NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(433-435)aCa>aGa		olfactory receptor, family 4, subfamily D, member 10							86.0	89.0	88.0					11																	59245336		2200	4295	6495	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245336C>G	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.434C>G	11.37:g.59245336C>G	ENSP00000436424:p.Thr145Arg						p.T145R	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	491	+			145					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.434C>G	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075477	0.08485	.	.	ENSG00000254466	ENST00000530162	T	0.37584	1.19	4.71	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33962	0.0881	L	0.43646	1.37	0.09310	N	1	B	0.20261	0.043	B	0.34346	0.18	T	0.44697	-0.9311	9	0.87932	D	0	.	8.1457	0.31110	0.0:0.2469:0.0:0.7531	.	145	Q8NGI6	OR4DA_HUMAN	R	145	ENSP00000436424:T145R	ENSP00000436424:T145R	T	+	2	0	OR4D10	59001912	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.476000	0.22180	-0.012000	0.14223	-1.004000	0.02495	ACA		0.517	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		14	100	0	0	0	1	0	14	100				
LMX1B	4010	broad.mit.edu	37	9	129458133	129458133	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr9:129458133G>A	ENST00000373474.4	+	7	909	c.902G>A	c.(901-903)cGc>cAc	p.R301H	LMX1B_ENST00000425646.2_Missense_Mutation_p.R278H|LMX1B_ENST00000561065.1_Missense_Mutation_p.R289H|LMX1B_ENST00000526117.1_Missense_Mutation_p.R301H|LMX1B_ENST00000355497.5_Missense_Mutation_p.R312H			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	301					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CTGTCCAGCCGCATGGAGGGC	0.662									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(934-936)cGc>cAc		LIM homeobox transcription factor 1, beta							60.0	49.0	52.0					9																	129458133		2203	4299	6502	SO:0001583	missense	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129458133G>A	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.902G>A	9.37:g.129458133G>A	ENSP00000362573:p.Arg301His					LMX1B_ENST00000561065.1_Missense_Mutation_p.R289H|LMX1B_ENST00000425646.2_Missense_Mutation_p.R278H|LMX1B_ENST00000373474.4_Missense_Mutation_p.R301H|LMX1B_ENST00000526117.1_Missense_Mutation_p.R301H	p.R312H	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			7	942	+			278					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.935G>A	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109968	0.56398	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.989;0.989;0.996	P;P;P	0.57101	0.54;0.655;0.813	T	0.76924	-0.2779	10	0.15952	T	0.53	.	16.73	0.85432	0.0:0.0:1.0:0.0	.	289;278;301	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	H	301;301;312;278	ENSP00000436930:R301H;ENSP00000362573:R301H;ENSP00000347684:R312H;ENSP00000390923:R278H	ENSP00000347684:R312H	R	+	2	0	LMX1B	128497954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.107000	0.94261	2.195000	0.70347	0.561000	0.74099	CGC		0.662	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			9	75	0	0	0	1	0	9	75				
CKAP5	9793	broad.mit.edu	37	11	46801810	46801810	+	Silent	SNP	A	A	C			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:46801810A>C	ENST00000529230.1	-	20	2413	c.2367T>G	c.(2365-2367)tcT>tcG	p.S789S	CKAP5_ENST00000312055.5_Silent_p.S789S|CKAP5_ENST00000354558.3_Silent_p.S789S|CKAP5_ENST00000415402.1_Silent_p.S789S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	789					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACATTCGCAAAGAGGGACCAA	0.423																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2365-2367)tcT>tcG		cytoskeleton associated protein 5							86.0	81.0	83.0					11																	46801810		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46801810A>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2367T>G	11.37:g.46801810A>C						CKAP5_ENST00000415402.1_Silent_p.S789S|CKAP5_ENST00000354558.3_Silent_p.S789S|CKAP5_ENST00000312055.5_Silent_p.S789S	p.S789S			Q14008	CKAP5_HUMAN			20	2413	-			789					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.2367T>G	CCDS31477.1																																																																																				0.423	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		10	45	0	0	0	1	0	10	45				
KLHL12	59349	broad.mit.edu	37	1	202861756	202861756	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:202861756C>T	ENST00000367261.3	-	12	1830	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E576K|KLHL12_ENST00000367259.1_3'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	538	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCATAACATTCAATGCTACTT	0.483																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1612-1614)Gaa>Aaa		kelch-like family member 12							112.0	89.0	96.0					1																	202861756		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202861756C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1612G>A	1.37:g.202861756C>T	ENSP00000356230:p.Glu538Lys					KLHL12_ENST00000435533.3_Missense_Mutation_p.E576K|KLHL12_ENST00000367259.1_3'UTR	p.E538K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		12	1830	-			538			Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.1612G>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618068	0.96649	.	.	ENSG00000117153	ENST00000367261;ENST00000435533	D;D	0.84516	-1.86;-1.86	5.04	5.04	0.67666	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.97940	1.0325	10	0.87932	D	0	.	18.7603	0.91848	0.0:1.0:0.0:0.0	.	576;538	B7Z7B8;Q53G59	.;KLH12_HUMAN	K	538;576	ENSP00000356230:E538K;ENSP00000416886:E576K	ENSP00000356230:E538K	E	-	1	0	KLHL12	201128379	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.730000	0.84881	2.482000	0.83794	0.484000	0.47621	GAA		0.483	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		7	60	0	0	0	1	0	7	60				
PNMA2	10687	broad.mit.edu	37	8	26366213	26366213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:26366213G>T	ENST00000522362.2	-	3	953	c.59C>A	c.(58-60)tCa>tAa	p.S20*	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	20					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aaccatcagtgacttctgctc	0.512																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(58-60)tCa>tAa		paraneoplastic Ma antigen 2							185.0	169.0	174.0					8																	26366213		2203	4300	6503	SO:0001587	stop_gained	10687				apoptosis	nucleolus	protein binding	g.chr8:26366213G>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.59C>A	8.37:g.26366213G>T	ENSP00000429344:p.Ser20*						p.S20*	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	953	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	20					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Nonsense_Mutation	SNP	ENST00000522362.2	37	c.59C>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	42	9.400844	0.99159	.	.	ENSG00000240694	ENST00000522362	.	.	.	3.74	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7906	11.3404	0.49529	0.0:0.0:1.0:0.0	.	.	.	.	X	20	.	ENSP00000429344:S20X	S	-	2	0	PNMA2	26422130	0.821000	0.29204	0.810000	0.32431	0.901000	0.52897	3.689000	0.54706	2.381000	0.81170	0.655000	0.94253	TCA		0.512	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		32	179	1	0	3.99451e-17	1	4.21239e-17	32	179				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	58	0	0	0	1	0	6	58				
OAS2	4939	broad.mit.edu	37	12	113447043	113447043	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:113447043C>T	ENST00000342315.4	+	10	2261	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	OAS2_ENST00000392583.2_Missense_Mutation_p.P683S|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGGAAAGTGCCGGTAAAAGT	0.458																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2047-2049)Ccg>Tcg		2'-5'-oligoadenylate synthetase 2, 69/71kDa							183.0	183.0	183.0					12																	113447043		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113447043C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2047C>T	12.37:g.113447043C>T	ENSP00000342278:p.Pro683Ser					RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.P683S	p.P683S	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			10	2254	+			683			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2047C>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.58	2.579288	0.46006	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.41400	1.0;1.0	4.39	3.5	0.40072	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.809574	0.10268	N	0.695164	T	0.60287	0.2257	M	0.61703	1.905	0.30815	N	0.738447	D;P	0.89917	1.0;0.932	D;P	0.91635	0.999;0.643	T	0.55444	-0.8140	10	0.45353	T	0.12	-29.1712	10.3375	0.43858	0.0:0.8006:0.1994:0.0	.	683;683	P29728;P29728-2	OAS2_HUMAN;.	S	683	ENSP00000342278:P683S;ENSP00000376362:P683S	ENSP00000342278:P683S	P	+	1	0	OAS2	111931426	0.043000	0.20138	0.086000	0.20670	0.003000	0.03518	0.433000	0.21477	1.074000	0.40909	-0.122000	0.15005	CCG		0.458	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			6	280	0	0	0	1	0	6	280				
MEF2D	4209	broad.mit.edu	37	1	156446862	156446862	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:156446862C>T	ENST00000348159.4	-	7	1277	c.797G>A	c.(796-798)cGc>cAc	p.R266H	MEF2D_ENST00000353795.3_Missense_Mutation_p.R220H|MEF2D_ENST00000368240.2_Missense_Mutation_p.R266H|MEF2D_ENST00000340875.5_Missense_Mutation_p.R265H|MEF2D_ENST00000360595.3_Missense_Mutation_p.R266H|MEF2D_ENST00000464356.2_Missense_Mutation_p.R265H	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	266					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCGGGCTTGCGGCTGGGGGC	0.617																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(796-798)cGc>cAc		myocyte enhancer factor 2D							75.0	74.0	74.0					1																	156446862		2203	4300	6503	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156446862C>T	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.797G>A	1.37:g.156446862C>T	ENSP00000271555:p.Arg266His					MEF2D_ENST00000353795.3_Missense_Mutation_p.R220H|MEF2D_ENST00000464356.1_Intron|MEF2D_ENST00000368240.2_Missense_Mutation_p.R266H|MEF2D_ENST00000340875.5_Missense_Mutation_p.R265H|MEF2D_ENST00000360595.3_Missense_Mutation_p.R266H	p.R266H	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			7	1277	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		266					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.797G>A	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368742	0.95900	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.82823	2.61	0.80722	D	1	D;P;P	0.89917	1.0;0.896;0.939	D;B;P	0.87578	0.998;0.246;0.565	T	0.63427	-0.6640	10	0.59425	D	0.04	-16.7364	17.7508	0.88432	0.0:1.0:0.0:0.0	.	271;266;266	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	H	266;265;266;220;266;265	ENSP00000271555:R266H;ENSP00000343159:R265H;ENSP00000357223:R266H;ENSP00000344705:R220H;ENSP00000353803:R266H;ENSP00000388505:R265H	ENSP00000343159:R265H	R	-	2	0	MEF2D	154713486	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.298000	0.78815	2.524000	0.85096	0.655000	0.94253	CGC		0.617	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		4	153	0	0	0	1	0	4	153				
HELB	92797	broad.mit.edu	37	12	66725028	66725028	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:66725028G>T	ENST00000247815.4	+	12	2824	c.2765G>T	c.(2764-2766)cGa>cTa	p.R922L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	922					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGCCGCTGCCGAGTGTATGTG	0.532																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2764-2766)cGa>cTa		helicase (DNA) B							45.0	49.0	48.0					12																	66725028		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725028G>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2765G>T	12.37:g.66725028G>T	ENSP00000247815:p.Arg922Leu						p.R922L	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	2824	+			922					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2765G>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175597	0.57692	.	.	ENSG00000127311	ENST00000247815	T	0.12465	2.68	5.37	1.5	0.22942	.	0.141894	0.43747	D	0.000538	T	0.19248	0.0462	L	0.28274	0.84	0.18873	N	0.999984	D	0.89917	1.0	D	0.76071	0.987	T	0.06391	-1.0829	9	.	.	.	-7.9472	8.6669	0.34125	0.3001:0.0:0.6999:0.0	.	922	Q8NG08	HELB_HUMAN	L	922	ENSP00000247815:R922L	.	R	+	2	0	HELB	65011295	0.049000	0.20398	0.750000	0.31169	0.983000	0.72400	2.222000	0.42926	0.267000	0.21916	0.561000	0.74099	CGA		0.532	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			4	76	1	0	0.000602214	1	0.00061278	4	76				
TAF5L	27097	broad.mit.edu	37	1	229738251	229738251	+	Silent	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:229738251G>A	ENST00000366676.1	-	3	662	c.663C>T	c.(661-663)aaC>aaT	p.N221N	TAF5L_ENST00000258281.2_Silent_p.N221N|TAF5L_ENST00000366675.3_Silent_p.N221N			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	221					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCCAAACCGTTGTTCTCAC	0.552																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(661-663)aaC>aaT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							82.0	84.0	83.0					1																	229738251		2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738251G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.663C>T	1.37:g.229738251G>A						TAF5L_ENST00000366676.1_Silent_p.N221N|TAF5L_ENST00000258281.2_Silent_p.N221N	p.N221N	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	751	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	221					Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.663C>T	CCDS1581.1																																																																																				0.552	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		4	104	0	0	0	1	0	4	104				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			0							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		3	26	0	0	0	1	0	3	26				
SNRPD3	6634	broad.mit.edu	37	22	24953658	24953658	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:24953658C>T	ENST00000215829.3	+	2	603	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	GUCD1_ENST00000407471.3_5'Flank|GUCD1_ENST00000404664.3_5'Flank|GUCD1_ENST00000447813.2_5'Flank|GUCD1_ENST00000435822.1_5'Flank|SNRPD3_ENST00000402849.1_Missense_Mutation_p.P6S|GUCD1_ENST00000402766.1_5'Flank	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	6					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.P6S(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						TATTGGTGTGCCGATTAAAGT	0.478																																						ENST00000215829.3																			1	Substitution - Missense(1)	p.P6S(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(16-18)Ccg>Tcg		small nuclear ribonucleoprotein D3 polypeptide 18kDa							203.0	172.0	182.0					22																	24953658		2203	4300	6503	SO:0001583	missense	6634				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	g.chr22:24953658C>T	U15009	CCDS13828.1	22q11.23	2011-10-11	2002-08-29		ENSG00000100028	ENSG00000100028			11160	protein-coding gene	gene with protein product		601062	"""small nuclear ribonucleoprotein D3 polypeptide (18kD)"""			1701240, 7527560	Standard	NM_004175		Approved	SMD3, Sm-D3	uc003aam.1	P62318	OTTHUMG00000150727	ENST00000215829.3:c.16C>T	22.37:g.24953658C>T	ENSP00000215829:p.Pro6Ser					SNRPD3_ENST00000402849.1_Missense_Mutation_p.P6S	p.P6S	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN			2	603	+			6					B4DJP7|B5BU13|P43331	Missense_Mutation	SNP	ENST00000215829.3	37	c.16C>T	CCDS13828.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356783	0.95854	.	.	ENSG00000100028	ENST00000215829;ENST00000402849	T;T	0.36157	1.27;1.27	5.72	5.72	0.89469	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81364	-0.0966	10	0.87932	D	0	.	18.8534	0.92241	0.0:1.0:0.0:0.0	.	6;6	B4DJP7;P62318	.;SMD3_HUMAN	S	6	ENSP00000215829:P6S;ENSP00000385266:P6S	ENSP00000385994:P6S	P	+	1	0	SNRPD3	23283658	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.017000	0.76399	2.695000	0.91970	0.655000	0.94253	CCG		0.478	SNRPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319813.1	NM_004175		4	120	0	0	0	1	0	4	120				
EHBP1	23301	broad.mit.edu	37	2	63101583	63101583	+	Silent	SNP	G	G	A	rs148159032		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:63101583G>A	ENST00000263991.5	+	11	1688	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	EHBP1_ENST00000405015.3_Silent_p.P367P|EHBP1_ENST00000405289.1_Silent_p.P367P|EHBP1_ENST00000431489.1_Silent_p.P367P|EHBP1_ENST00000354487.3_Silent_p.P367P	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	402						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAAGGCCCCGGCTCCACCAG	0.388																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(1204-1206)ccG>ccA		EH domain binding protein 1		G	,,,	1,4405	2.1+/-5.4	0,1,2202	94.0	106.0	102.0		1101,1101,1101,1206	-8.1	0.9	2	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EHBP1	NM_001142614.1,NM_001142615.2,NM_001142616.1,NM_015252.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	367/1197,367/1161,367/1161,402/1232	63101583	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23301					cytoplasm|membrane		g.chr2:63101583G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1206G>A	2.37:g.63101583G>A						EHBP1_ENST00000405289.1_Silent_p.P367P|EHBP1_ENST00000354487.3_Silent_p.P367P|EHBP1_ENST00000405015.3_Silent_p.P367P|EHBP1_ENST00000431489.1_Silent_p.P367P	p.P402P	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		11	1688	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		402					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	c.1206G>A	CCDS1872.1																																																																																				0.388	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		19	121	0	0	0	1	0	19	121				
DCAF8	50717	broad.mit.edu	37	1	160187426	160187426	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:160187426C>T	ENST00000368073.3	-	14	2184	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	DCAF8_ENST00000326837.2_Missense_Mutation_p.D584N|DCAF8_ENST00000556710.1_Missense_Mutation_p.D738N|DCAF8_ENST00000368074.1_Missense_Mutation_p.D584N|DCAF8_ENST00000608310.1_Missense_Mutation_p.D738N			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	584					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCTCCTCGTCCGATGTGTCT	0.622																																						ENST00000368073.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1750-1752)Gac>Aac		DDB1 and CUL4 associated factor 8							63.0	63.0	63.0					1																	160187426		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160187426C>T	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1750G>A	1.37:g.160187426C>T	ENSP00000357052:p.Asp584Asn					DCAF8_ENST00000556710.1_Missense_Mutation_p.D738N|DCAF8_ENST00000326837.2_Missense_Mutation_p.D584N|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.D584N	p.D584N			Q5TAQ9	DCAF8_HUMAN			14	2184	-			584					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.1750G>A	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992714	0.74703	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.28;-0.28	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000013	T	0.64427	0.2597	N	0.25647	0.755	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.79784	0.993;0.977	T	0.59484	-0.7446	10	0.22109	T	0.4	-10.3811	17.7322	0.88380	0.0:1.0:0.0:0.0	.	738;584	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	N	584;584;584;738;565;738	ENSP00000357052:D584N;ENSP00000318227:D584N;ENSP00000357053:D584N;ENSP00000451989:D738N;ENSP00000451235:D738N	ENSP00000318227:D584N	D	-	1	0	RP11-574F21.3;DCAF8	158454050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.712000	0.74681	2.721000	0.93114	0.655000	0.94253	GAC		0.622	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		7	72	0	0	0	1	0	7	72				
CACNA1A	773	broad.mit.edu	37	19	13616783	13616783	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr19:13616783C>T	ENST00000360228.5	-	1	255	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V86M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	86					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTCTCACCACGTTGTCTTCG	0.597																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(256-258)Gtg>Atg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						92.0	97.0	95.0					19																	13616783		2055	4194	6249	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13616783C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.256G>A	19.37:g.13616783C>T	ENSP00000353362:p.Val86Met					CACNA1A_ENST00000573710.2_Missense_Mutation_p.V86M	p.V86M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		1	255	-			86					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.256G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170832	0.38315	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.57107	0.42	3.58	3.58	0.41010	.	0.422460	0.17216	U	0.182522	T	0.62768	0.2455	L	0.41710	1.295	0.35553	D	0.80404	P;D	0.71674	0.865;0.998	B;D	0.69824	0.244;0.966	T	0.71849	-0.4468	10	0.56958	D	0.05	.	14.1464	0.65353	0.0:1.0:0.0:0.0	.	86;86	O00555;Q9NS88	CAC1A_HUMAN;.	M	86	ENSP00000353362:V86M	ENSP00000317661:V86M	V	-	1	0	CACNA1A	13477783	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	0.617000	0.24359	1.850000	0.53721	0.508000	0.49915	GTG		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		9	36	0	0	0	1	0	9	36				
GPR98	84059	broad.mit.edu	37	5	90083965	90083965	+	Silent	SNP	C	C	T	rs376686611		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr5:90083965C>T	ENST00000405460.2	+	68	13827	c.13731C>T	c.(13729-13731)agC>agT	p.S4577S	GPR98_ENST00000425867.2_Silent_p.S238S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4577	Calx-beta 31. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCCAGTGAGCGGGTTGTTCT	0.433																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13729-13731)agC>agT		G protein-coupled receptor 98		C		3,3711		0,3,1854	75.0	72.0	73.0		13731	-7.1	0.0	5		73	0,8194		0,0,4097	no	coding-synonymous	GPR98	NM_032119.3		0,3,5951	TT,TC,CC		0.0,0.0808,0.0252		4577/6307	90083965	3,11905	1857	4097	5954	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90083965C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13731C>T	5.37:g.90083965C>T						GPR98_ENST00000425867.2_Silent_p.S238S	p.S4577S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	68	13827	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4577			Calx-beta 31.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.13731C>T	CCDS47246.1																																																																																				0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	61	0	0	0	1	0	4	61				
MCC	4163	broad.mit.edu	37	5	112824048	112824048	+	Missense_Mutation	SNP	T	T	C	rs35336557|rs531679771	byFrequency	TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr5:112824048T>C	ENST00000408903.3	-	1	479	c.64A>G	c.(64-66)Agc>Ggc	p.S22G		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccg	0.736																																						ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(64-66)Agc>Ggc		mutated in colorectal cancers							5.0	8.0	7.0					5																	112824048		934	2445	3379	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048T>C		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.64A>G	5.37:g.112824048T>C	ENSP00000386227:p.Ser22Gly						p.S22G	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	550					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.64A>G	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	9.510	1.105603	0.20632	.	.	ENSG00000171444	ENST00000408903	T	0.36340	1.26	2.11	1.19	0.21007	.	.	.	.	.	T	0.22936	0.0554	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.21724	-1.0237	8	0.52906	T	0.07	.	4.0033	0.09590	0.0:0.5998:0.0:0.4002	.	22	P23508-2	.	G	22	ENSP00000386227:S22G	ENSP00000386227:S22G	S	-	1	0	MCC	112851947	0.005000	0.15991	0.030000	0.17652	0.016000	0.09150	-0.087000	0.11215	0.225000	0.20959	-1.896000	0.00531	AGC		0.736	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		4	29	0	0	0	1	0	4	29				
ADAMTS5	11096	broad.mit.edu	37	21	28327086	28327086	+	Silent	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr21:28327086G>A	ENST00000284987.5	-	2	1330	c.1209C>T	c.(1207-1209)caC>caT	p.H403H	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	403	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H403H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGAAGGCTGCGTGGAGGCCAT	0.498																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			1	Substitution - coding silent(1)	p.H403H(1)	endometrium(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1207-1209)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 5							121.0	112.0	115.0					21																	28327086		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28327086G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1209C>T	21.37:g.28327086G>A							p.H403H	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			2	1330	-			403			Peptidase M12B.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1209C>T	CCDS13579.1																																																																																				0.498	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			13	78	0	0	0	1	0	13	78				
ANKRD20A8P	729171	broad.mit.edu	37	2	95480633	95480633	+	RNA	SNP	G	G	A	rs200102220		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:95480633G>A	ENST00000432432.2	-	0	2727					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ccagccccttgcaaacattaa	0.388																																						ENST00000432432.2																			0																																																			0							g.chr2:95480633G>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95480633G>A								NR_040113.1						0	2727	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.388	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	12	0	0	0	1	0	3	12				
HRAS	3265	broad.mit.edu	37	11	533309	533309	+	Intron	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:533309G>A	ENST00000451590.1	-	4	638				HRAS_ENST00000417302.1_Missense_Mutation_p.P167L|HRAS_ENST00000397594.1_Missense_Mutation_p.P167L|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397596.2_Intron	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog						actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CATGGGTCCCGGGGGGTCCCA	0.721		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		0				adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(499-501)cCg>cTg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						11.0	15.0	14.0					11																	533309		2178	4279	6457	SO:0001627	intron_variant	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533309G>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.450+143C>T	11.37:g.533309G>A		HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397594.1_Missense_Mutation_p.P167L|HRAS_ENST00000397596.2_Intron	p.P167L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	687	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	0			Hypervariable region.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.500C>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256929	0.39896	.	.	ENSG00000174775	ENST00000397594;ENST00000417302	T;T	0.70631	-0.5;-0.5	3.22	-1.05	0.10036	.	.	.	.	.	T	0.53883	0.1824	.	.	.	0.22648	N	0.998895	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	8	0.87932	D	0	.	4.3227	0.11025	0.3181:0.0:0.4625:0.2194	.	167	P01112-2	.	L	167	ENSP00000380722:P167L;ENSP00000388246:P167L	ENSP00000380722:P167L	P	-	2	0	HRAS	523309	0.900000	0.30661	0.910000	0.35882	0.994000	0.84299	0.779000	0.26746	0.013000	0.14918	0.561000	0.74099	CCG		0.721	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		5	51	0	0	0	1	0	5	51				
TTC12	54970	broad.mit.edu	37	11	113196336	113196336	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:113196336A>G	ENST00000529221.1	+	6	518	c.413A>G	c.(412-414)gAc>gGc	p.D138G	TTC12_ENST00000314756.3_Missense_Mutation_p.D138G|TTC12_ENST00000483239.2_Missense_Mutation_p.D138G|TTC12_ENST00000393020.1_Missense_Mutation_p.D138G	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	138										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AAGCTGAAGGACATGAAAGTG	0.468																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(412-414)gAc>gGc		tetratricopeptide repeat domain 12							122.0	107.0	112.0					11																	113196336		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113196336A>G	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.413A>G	11.37:g.113196336A>G	ENSP00000433757:p.Asp138Gly					TTC12_ENST00000314756.3_Missense_Mutation_p.D138G|TTC12_ENST00000483239.2_Missense_Mutation_p.D138G|TTC12_ENST00000529221.1_Missense_Mutation_p.D138G	p.D138G			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	6	818	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	138					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.413A>G	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772754	0.90108	.	.	ENSG00000149292	ENST00000529221;ENST00000442859;ENST00000531164;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239	T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	6.02	6.02	0.97574	Tetratricopeptide-like helical (1);Armadillo-type fold (1);Tetratricopeptide repeat-containing (1);	0.223971	0.45606	D	0.000357	T	0.73179	0.3554	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75294	-0.3368	10	0.72032	D	0.01	-35.5903	15.5319	0.75970	1.0:0.0:0.0:0.0	.	138;138	A8K8G6;Q9H892	.;TTC12_HUMAN	G	138;138;113;138;138;138;138;138;138	ENSP00000433757:D138G;ENSP00000400039:D138G;ENSP00000433916:D113G;ENSP00000431806:D138G;ENSP00000315160:D138G;ENSP00000435308:D138G;ENSP00000376743:D138G;ENSP00000402004:D138G;ENSP00000419652:D138G	ENSP00000315160:D138G	D	+	2	0	TTC12	112701546	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.906000	0.87423	2.299000	0.77371	0.528000	0.53228	GAC		0.468	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		19	98	0	0	0	1	0	19	98				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		3	29	0	0	0	1	0	3	29				
DAPK1	1612	broad.mit.edu	37	9	90321394	90321394	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr9:90321394C>G	ENST00000408954.3	+	26	3743	c.3408C>G	c.(3406-3408)caC>caG	p.H1136Q	DAPK1_ENST00000358077.5_Missense_Mutation_p.H1136Q|DAPK1_ENST00000472284.1_Missense_Mutation_p.H1136Q|DAPK1_ENST00000469640.2_Missense_Mutation_p.H1161Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.H1070Q	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1136					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCGTGGAACACCTCACCCCCT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3481-3483)caC>caG		death-associated protein kinase 1							97.0	109.0	105.0					9																	90321394		2199	4280	6479	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321394C>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3408C>G	9.37:g.90321394C>G	ENSP00000386135:p.His1136Gln					DAPK1_ENST00000472284.1_Missense_Mutation_p.H1136Q|DAPK1_ENST00000408954.3_Missense_Mutation_p.H1136Q|DAPK1_ENST00000358077.5_Missense_Mutation_p.H1136Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.H1070Q	p.H1161Q			P53355	DAPK1_HUMAN			27	3858	+			1136					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.3483C>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358422	0.41801	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65916	-0.16;-0.16;-0.18;-0.16;-0.18	5.73	2.94	0.34122	.	0.105337	0.39544	N	0.001340	T	0.63319	0.2501	L	0.46157	1.445	0.58432	D	0.999998	P;D;P	0.58268	0.622;0.982;0.622	B;P;B	0.56612	0.282;0.802;0.282	T	0.56232	-0.8013	10	0.19590	T	0.45	.	10.2782	0.43523	0.0:0.7238:0.0:0.2762	.	1070;1136;1136	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	Q	1136;1136;1161;1136;1070	ENSP00000350785:H1136Q;ENSP00000417076:H1136Q;ENSP00000418885:H1161Q;ENSP00000386135:H1136Q;ENSP00000419026:H1070Q	ENSP00000350785:H1136Q	H	+	3	2	DAPK1	89511214	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	2.522000	0.45572	0.367000	0.24454	-0.254000	0.11334	CAC		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		3	47	0	0	0	1	0	3	47				
BOD1L1	259282	broad.mit.edu	37	4	13601210	13601210	+	Silent	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr4:13601210G>A	ENST00000040738.5	-	10	7449	c.7314C>T	c.(7312-7314)tgC>tgT	p.C2438C		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2438						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTATTTCGGGGCACTCCTTGC	0.498											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7312-7314)tgC>tgT		biorientation of chromosomes in cell division 1-like 1							169.0	153.0	159.0					4																	13601210		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601210G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7314C>T	4.37:g.13601210G>A			OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.C2438C	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7449	-			2438					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7314C>T	CCDS3411.2																																																																																				0.498	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	164	0	0	0	1	0	4	164				
RP11-156P1.2	0	broad.mit.edu	37	17	45126909	45126909	+	IGR	SNP	G	G	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr17:45126909G>T	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							ATGGGCCCAAGGAGCATCCAG	0.507																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45126909G>T																													17.37:g.45126909G>T														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.507	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			5	166	1	0	5.9392e-07	1	6.15131e-07	5	166				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			12	18	0	0	0	1	0	12	18				
KMT2C	58508	broad.mit.edu	37	7	151878166	151878166	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr7:151878166G>C	ENST00000262189.6	-	36	6997	c.6779C>G	c.(6778-6780)gCt>gGt	p.A2260G	KMT2C_ENST00000355193.2_Missense_Mutation_p.A2260G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2260	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCCAGGTAAAGCTGGTCCTCG	0.517																																						ENST00000355193.2																			0											c.(6778-6780)gCt>gGt		lysine (K)-specific methyltransferase 2C							97.0	101.0	100.0					7																	151878166		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878166G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6779C>G	7.37:g.151878166G>C	ENSP00000262189:p.Ala2260Gly					KMT2C_ENST00000262189.6_Missense_Mutation_p.A2260G	p.A2260G							36	6997	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6779C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	7.115	0.576811	0.13686	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83755	-1.76;-1.76	5.02	2.0	0.26442	.	0.391782	0.18043	N	0.153536	T	0.67496	0.2899	N	0.17474	0.49	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48658	-0.9016	10	0.17832	T	0.49	.	10.8184	0.46591	0.0803:0.4556:0.4641:0.0	.	2260;1321	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	2260	ENSP00000262189:A2260G;ENSP00000347325:A2260G	ENSP00000262189:A2260G	A	-	2	0	MLL3	151509099	0.627000	0.27129	0.222000	0.23844	0.992000	0.81027	2.085000	0.41634	0.167000	0.19631	0.561000	0.74099	GCT		0.517	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			19	81	0	0	0	1	0	19	81				
ADCY4	196883	broad.mit.edu	37	14	24793576	24793576	+	Silent	SNP	C	C	T	rs141339113		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr14:24793576C>T	ENST00000310677.4	-	16	1958	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000554068.2_Silent_p.T615T|ADCY4_ENST00000418030.2_Silent_p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	615					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGATGCTATACGTGATGGCCA	0.567																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1843-1845)acG>acA		adenylate cyclase 4		C	,,	1,4405	2.1+/-5.4	0,1,2202	76.0	72.0	73.0		1845,1845,1845	0.3	1.0	14	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	615/1078,615/1078,615/1078	24793576	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24793576C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1845G>A	14.37:g.24793576C>T						ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000554068.2_Silent_p.T615T|ADCY4_ENST00000418030.2_Silent_p.T615T	p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	16	1958	-			615					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.1845G>A	CCDS9627.1																																																																																				0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			10	87	0	0	0	1	0	10	87				
ANKRD20A8P	729171	broad.mit.edu	37	2	95480630	95480630	+	RNA	SNP	C	C	T	rs200849671		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:95480630C>T	ENST00000432432.2	-	0	2730					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		gccccagccccttgcaaacat	0.393																																						ENST00000432432.2																			0																																																			0							g.chr2:95480630C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95480630C>T								NR_040113.1						0	2730	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.393	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	12	0	0	0	1	0	3	12				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			10	117	0	0	0	1	0	10	117				
NPEPPS	9520	broad.mit.edu	37	17	45668127	45668127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr17:45668127G>A	ENST00000322157.4	+	10	1377	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.W300*|NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.W376*	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	380					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCATCCTGGATTGAATATC	0.383																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1138-1140)tgG>tgA		aminopeptidase puromycin sensitive							65.0	58.0	60.0					17																	45668127		1799	4061	5860	SO:0001587	stop_gained	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45668127G>A	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1140G>A	17.37:g.45668127G>A	ENSP00000320324:p.Trp380*					NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.W376*|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.W300*	p.W380*	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			10	1377	+			380					B7Z463|Q6P145|Q9NP16|Q9UEM2	Nonsense_Mutation	SNP	ENST00000322157.4	37	c.1140G>A	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906672	0.92107	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9233	0.97095	0.0:0.0:1.0:0.0	.	.	.	.	X	376;380;367;300;63;77	.	ENSP00000320324:W380X	W	+	3	0	NPEPPS	43023126	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.714000	0.98744	2.704000	0.92352	0.591000	0.81541	TGG		0.383	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		7	61	0	0	0	1	0	7	61				
THAP7	80764	broad.mit.edu	37	22	21354950	21354950	+	Silent	SNP	T	T	C			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:21354950T>C	ENST00000215742.4	-	3	537	c.363A>G	c.(361-363)agA>agG	p.R121R	THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Silent_p.R121R	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	121					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCCTGCATCGTCTGAGCCGGC	0.607																																						ENST00000215742.4																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(361-363)agA>agG		THAP domain containing 7							108.0	100.0	103.0					22																	21354950		2203	4300	6503	SO:0001819	synonymous_variant	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354950T>C	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.363A>G	22.37:g.21354950T>C						THAP7_ENST00000399133.2_Silent_p.R121R	p.R121R	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	537	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	121					B2RD97|D3DX40	Silent	SNP	ENST00000215742.4	37	c.363A>G	CCDS13787.1																																																																																				0.607	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		21	143	0	0	0	1	0	21	143				
ANKRD20A8P	729171	broad.mit.edu	37	2	95480631	95480631	+	RNA	SNP	T	T	C	rs201857501		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:95480631T>C	ENST00000432432.2	-	0	2729					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ccccagccccttgcaaacatt	0.393																																						ENST00000432432.2																			0																																																			0							g.chr2:95480631T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95480631T>C								NR_040113.1						0	2729	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.393	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	12	0	0	0	1	0	3	12				
SLC4A8	9498	broad.mit.edu	37	12	51855065	51855065	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:51855065T>A	ENST00000453097.2	+	9	1308	c.1091T>A	c.(1090-1092)aTg>aAg	p.M364K	SLC4A8_ENST00000514353.3_Missense_Mutation_p.M311K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M391K|SLC4A8_ENST00000535225.2_Missense_Mutation_p.M311K|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M311K	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GCCACCATCATGACAGATGAG	0.408																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1090-1092)aTg>aAg		solute carrier family 4, sodium bicarbonate cotransporter, member 8							150.0	131.0	138.0					12																	51855065		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51855065T>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1091T>A	12.37:g.51855065T>A	ENSP00000405812:p.Met364Lys					SLC4A8_ENST00000535225.2_Missense_Mutation_p.M311K|SLC4A8_ENST00000514353.3_Missense_Mutation_p.M311K|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M311K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M391K	p.M364K	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	9	1308	+			364						Missense_Mutation	SNP	ENST00000453097.2	37	c.1091T>A	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.795661	0.90453	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.85	5.85	0.93711	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.90584	0.7048	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.987;0.999;0.997;0.988;0.985;0.974;0.999	D;D;D;D;D;D;D	0.87578	0.979;0.986;0.985;0.988;0.979;0.948;0.998	D	0.93304	0.6679	10	0.87932	D	0	.	15.5289	0.75936	0.0:0.0:0.0:1.0	.	311;391;311;364;364;364;311	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	K	311;391;364;311;364;311;311;311	ENSP00000441520:M311K;ENSP00000351483:M391K;ENSP00000405812:M364K;ENSP00000378325:M311K;ENSP00000442561:M311K	ENSP00000315789:M364K	M	+	2	0	SLC4A8	50141332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATG		0.408	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		3	41	0	0	0	1	0	3	41				
KCNA10	3744	broad.mit.edu	37	1	111061227	111061227	+	Silent	SNP	C	C	T	rs543046084		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:111061227C>T	ENST00000369771.2	-	1	570	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	61					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.T61T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TGGAGAAGGCCGTCTCATGGT	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17159	0.0		0.0	False		,,,				2504	0.0					ENST00000369771.2																			1	Substitution - coding silent(1)	p.T61T(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(181-183)acG>acA		potassium voltage-gated channel, shaker-related subfamily, member 10							84.0	92.0	89.0					1																	111061227		2203	4300	6503	SO:0001819	synonymous_variant	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111061227C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.183G>A	1.37:g.111061227C>T							p.T61T	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	570	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	61						Silent	SNP	ENST00000369771.2	37	c.183G>A	CCDS826.1																																																																																				0.582	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		5	118	0	0	0	1	0	5	118				
RSPH9	221421	broad.mit.edu	37	6	43623376	43623376	+	Silent	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr6:43623376C>T	ENST00000372163.4	+	3	524	c.471C>T	c.(469-471)ggC>ggT	p.G157G	RSPH9_ENST00000372165.4_Silent_p.G142G	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	157					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.G157G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCCCCCGAGGCGCCCTCTTCA	0.572									Kartagener syndrome																													ENST00000372165.4																			1	Substitution - coding silent(1)	p.G157G(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(424-426)ggC>ggT		radial spoke head 9 homolog (Chlamydomonas)							142.0	144.0	143.0					6																	43623376		2203	4300	6503	SO:0001819	synonymous_variant	221421	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43623376C>T	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.471C>T	6.37:g.43623376C>T						RSPH9_ENST00000372163.4_Silent_p.G157G	p.G142G	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN			3	479	+			157					A8K5T4|Q96NH9	Silent	SNP	ENST00000372163.4	37	c.426C>T	CCDS4905.1	.	.	.	.	.	.	.	.	.	.	C	9.689	1.151384	0.21371	.	.	ENSG00000172426	ENST00000417236	.	.	.	5.68	-11.4	0.00090	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45920	-0.9228	4	.	.	.	-8.401	4.5425	0.12066	0.3523:0.4283:0.0846:0.1349	.	.	.	.	C	82	.	.	R	+	1	0	RSPH9	43731354	0.000000	0.05858	0.671000	0.29857	0.975000	0.68041	-3.794000	0.00364	-1.699000	0.01416	-0.469000	0.05056	CGC		0.572	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		36	253	0	0	0	1	0	36	253				
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-	rs575852588	byFrequency	TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766														1798	0.359026	0.0673	0.5072	5008	,	,		10019	0.4792		0.4891	False		,,,				2504	0.3906					ENST00000310991.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(67-78)ctg>ct		transmembrane protein 52				61,649		27,7,321						0.9	1.0			2	719,1347		316,87,630	no	coding	TMEM52	NM_178545.3		343,94,951	A1A1,A1R,RR		34.8015,8.5915,28.098				780,1996				SO:0001651	inframe_deletion	339456					integral to membrane		g.chr1:1850628_1850636delAGCGGCAGG	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.69_77delCCTGCCGCT	1.37:g.1850637_1850645delAGCGGCAGG	ENSP00000311122:p.Leu23_Pro25del						p.LLPL23del	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	76_84	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	23					Q4VXS6|Q6UX25	In_Frame_Del	DEL	ENST00000310991.3	37	c.69_77delCCTGCCGCT	CCDS35.1																																																																																				0.766	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		4	3						4	3	---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083|rs371488778|rs113330492|rs45454392|rs67610340	byFrequency	TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(43-45)ctg>CTGctg	p.15_15L>LL	PCSK9_ENST00000543384.1_5'Flank|PCSK9_ENST00000452118.2_In_Frame_Ins_p.15_15L>LL	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	15					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			2	Insertion - In frame(2)	p.P14_L15insL(2)	breast(1)|central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(40-45)cctgct>ccCTGtgct		proprotein convertase subtilisin/kexin type 9																																				SO:0001652	inframe_insertion	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55505552_55505553insCTG	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.61_63dupCTG	1.37:g.55505559_55505561dupCTG	ENSP00000303208:p.Leu23dup					PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA	p.14_15PA>PCA	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			1	332_333	+			14					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	In_Frame_Ins	INS	ENST00000302118.5	37	c.42_43insCTG	CCDS603.1																																																																																				0.703	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		6	5						6	5	---	---	---	---
AC018890.6	0	broad.mit.edu	37	2	175584494	175584494	+	RNA	DEL	T	T	-			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:175584494delT	ENST00000442996.1	+	0	217																											TTGCTTCTGATTTTTTTTTTT	0.532											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175584494delT																													2.37:g.175584494delT			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.532	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	4						3	4	---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54754237	54754238	+	Frame_Shift_Ins	INS	-	-	C	rs370531478		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:54754237_54754238insC	ENST00000359530.2	-	2	276_277	c.13_14insG	c.(13-15)gatfs	p.D5fs	ATP6V1H_ENST00000396774.2_Frame_Shift_Ins_p.D5fs|ATP6V1H_ENST00000520188.1_5'Flank|ATP6V1H_ENST00000355221.3_Frame_Shift_Ins_p.D5fs	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	5					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ACCTCGGATATCCATTTTGGTC	0.396																																						ENST00000355221.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18						c.(13-15)tatfs		ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H																																				SO:0001589	frameshift_variant	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54754237_54754238insC	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.14dupG	8.37:g.54754239_54754239dupC	ENSP00000352522:p.Asp5fs					ATP6V1H_ENST00000359530.2_Frame_Shift_Ins_p.Y5fs|ATP6V1H_ENST00000396774.2_Frame_Shift_Ins_p.Y5fs	p.Y5fs	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		2	572_573	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	5					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Frame_Shift_Ins	INS	ENST00000359530.2	37	c.13_14insG	CCDS6153.1																																																																																				0.396	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		15	134						15	134	---	---	---	---
TRDV2	28517	broad.mit.edu	37	14	22892201	22892202	+	RNA	INS	-	-	A	rs571556949		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr14:22892201_22892202insA	ENST00000390469.2	+	0	520				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA					T cell receptor delta variable 2																		actaaaaatacaaaaaaaaaaa	0.545																																						ENST00000514473.2																			0																																																			0							g.chr14:22892201_22892202insA	X15207		14q11.2	2012-02-07			ENSG00000211821	ENSG00000211821		"""T cell receptors / TRD locus"""	12263	other	T cell receptor gene						2526321	Standard	NG_001332		Approved	hDV102S1, MGC117421			OTTHUMG00000170843		14.37:g.22892212_22892212dupA						AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA								0	225	-									RNA	INS	ENST00000390469.2	37																																																																																						0.545	TRDV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410669.1	NG_001332		3	6						3	6	---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228355	77228380	+	Frame_Shift_Del	DEL	CACTTACACGTGCAAGTGTCGCCCGC	CACTTACACGTGCAAGTGTCGCCCGC	-	rs370926151|rs376857114|rs375201754|rs374194784		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr16:77228355_77228380delCACTTACACGTGCAAGTGTCGCCCGC	ENST00000248248.3	+	4	949_974	c.599_624delCACTTACACGTGCAAGTGTCGCCCGC	c.(598-624)acacttacacgtgcaagtgtcgcccgcfs	p.TLTRASVAR200fs	MON1B_ENST00000545553.1_Frame_Shift_Del_p.TLTRASVAR54fs|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Frame_Shift_Del_p.TLTRASVAR91fs	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	200										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ATCGTGAGCACACTTACACGTGCAAGTGTCGCCCGCATCTTCGCAC	0.611																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(598-624)afs		MON1 secretory trafficking family member B																																				SO:0001589	frameshift_variant	22879						protein binding	g.chr16:77228355_77228380delCACTTACACGTGCAAGTGTCGCCCGC	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.599_624delCACTTACACGTGCAAGTGTCGCCCGC	16.37:g.77228355_77228380delCACTTACACGTGCAAGTGTCGCCCGC	ENSP00000248248:p.Thr200fs					MON1B_ENST00000545553.1_Frame_Shift_Del_p.TLTRASVAR54fs|MON1B_ENST00000439557.2_Frame_Shift_Del_p.TLTRASVAR91fs|MON1B_ENST00000320859.6_Intron	p.TLTRASVAR200fs	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			4	949_974	+			200					B4DDZ0|O94949	Frame_Shift_Del	DEL	ENST00000248248.3	37	c.599_624delCACTTACACGTGCAAGTGTCGCCCGC	CCDS10925.1																																																																																				0.611	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		12	158						12	158	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000217800.5_5'Flank|POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.D17del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914					ENST00000579534.1																			1	Deletion - In frame(1)	p.D17delD(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(40-45)ggc>gg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota				3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51795958_51795960delCGA		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del					POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.GD14del	p.GD14del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	1	185_187	+			14					Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	c.42_44delCGA	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		8	3						8	3	---	---	---	---
