#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
ANO5	203859	broad.mit.edu	37	11	22294525	22294525	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:22294525T>A	ENST00000324559.8	+	19	2542	c.2225T>A	c.(2224-2226)gTt>gAt	p.V742D	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	742					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCTTTCTGTTGCAACTAAT	0.418																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2224-2226)gTt>gAt		anoctamin 5							151.0	141.0	144.0					11																	22294525		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22294525T>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2225T>A	11.37:g.22294525T>A	ENSP00000315371:p.Val742Asp					ANO5_ENST00000532043.1_3'UTR	p.V742D	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			19	2542	+			742						Missense_Mutation	SNP	ENST00000324559.8	37	c.2225T>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	t	24.7	4.555296	0.86231	.	.	ENSG00000171714	ENST00000324559	T	0.71579	-0.58	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	H	0.96889	3.9	0.80722	D	1	D	0.61080	0.989	D	0.73380	0.98	D	0.92827	0.6277	10	0.87932	D	0	.	15.4539	0.75297	0.0:0.0:0.0:1.0	.	742	Q75V66	ANO5_HUMAN	D	742	ENSP00000315371:V742D	ENSP00000315371:V742D	V	+	2	0	ANO5	22251101	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.988000	0.88194	2.108000	0.64289	0.529000	0.55759	GTT		0.418	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		20	78	0	0	0	1	0	20	78				
KRT6A	3853	broad.mit.edu	37	12	52884359	52884359	+	Silent	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:52884359C>T	ENST00000330722.6	-	5	1139	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	357	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCTTGGTCTGGTACCAGG	0.577																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1069-1071)caG>caA		keratin 6A							141.0	143.0	142.0					12																	52884359		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52884359C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1071G>A	12.37:g.52884359C>T							p.Q357Q	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1139	-			357			Coil 2.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1071G>A	CCDS41786.1																																																																																				0.577	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		55	231	0	0	0	1	0	55	231				
FANCA	2175	broad.mit.edu	37	16	89869667	89869667	+	Splice_Site	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:89869667C>T	ENST00000389301.3	-	8	822	c.792G>A	c.(790-792)caG>caA	p.Q264Q	FANCA_ENST00000563673.1_Splice_Site_p.Q264Q|FANCA_ENST00000568369.1_Splice_Site_p.Q264Q|FANCA_ENST00000543736.1_Splice_Site_p.Q232Q|FANCA_ENST00000389302.3_Splice_Site_p.Q264Q|FANCA_ENST00000534992.1_Splice_Site_p.Q264Q	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	264					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTCCTCCTACCTGCGGCATTT	0.398			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.e8+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							144.0	135.0	138.0					16																	89869667		2198	4300	6498	SO:0001630	splice_region_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89869667C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.792+1G>A	16.37:g.89869667C>T						FANCA_ENST00000563673.1_Splice_Site_p.Q264_splice|FANCA_ENST00000534992.1_Splice_Site_p.Q264_splice|FANCA_ENST00000389302.3_Splice_Site_p.Q264_splice|FANCA_ENST00000543736.1_Splice_Site_p.Q232_splice|FANCA_ENST00000568369.1_Splice_Site_p.Q264_splice	p.Q264_splice	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	8	822	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	264					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Splice_Site	SNP	ENST00000389301.3	37	c.792_splice	CCDS32515.1																																																																																				0.398	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		Silent	19	135	0	0	0	1	0	19	135				
TMEM200C	645369	broad.mit.edu	37	18	5892029	5892029	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:5892029C>T	ENST00000581347.2	-	3	679	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	TMEM200C_ENST00000383490.2_Missense_Mutation_p.A12T|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	12						integral component of membrane (GO:0016021)		p.A12T(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGCTTTCTGGCGGAAATCCTT	0.622																																						ENST00000581347.1																			1	Substitution - Missense(1)	p.A12T(1)	endometrium(1)	autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(34-36)Gcc>Acc		transmembrane protein 200C							49.0	52.0	51.0					18																	5892029		2023	4187	6210	SO:0001583	missense	645369					integral to membrane		g.chr18:5892029C>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.34G>A	18.37:g.5892029C>T	ENSP00000463375:p.Ala12Thr					TMEM200C_ENST00000383490.2_Missense_Mutation_p.A12T|RP11-945C19.4_ENST00000577694.1_RNA	p.A12T			A6NKL6	T200C_HUMAN			3	679	-			12						Missense_Mutation	SNP	ENST00000581347.2	37	c.34G>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273295	0.80580	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.119276	0.56097	D	0.000028	T	0.67192	0.2867	L	0.32530	0.975	0.47441	D	0.999428	D	0.89917	1.0	D	0.75020	0.985	T	0.68089	-0.5501	9	0.45353	T	0.12	-7.3331	18.2993	0.90158	0.0:1.0:0.0:0.0	.	12	A6NKL6	T200C_HUMAN	T	12	.	ENSP00000372982:A12T	A	-	1	0	TMEM200C	5882029	0.999000	0.42202	0.962000	0.40283	0.974000	0.67602	3.774000	0.55341	2.376000	0.81061	0.557000	0.71058	GCC		0.622	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		21	39	0	0	0	1	0	21	39				
ZNF804B	219578	broad.mit.edu	37	7	88963423	88963423	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:88963423G>A	ENST00000333190.4	+	4	1736	c.1127G>A	c.(1126-1128)aGt>aAt	p.S376N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	376							metal ion binding (GO:0046872)	p.S376I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACAACCATAGTGATGCCAGG	0.388										HNSCC(36;0.09)																												ENST00000333190.4																			1	Substitution - Missense(1)	p.S376I(1)	lung(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1126-1128)aGt>aAt		zinc finger protein 804B							44.0	49.0	47.0					7																	88963423		2202	4300	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963423G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1127G>A	7.37:g.88963423G>A	ENSP00000329638:p.Ser376Asn	HNSCC(36;0.09)					p.S376N	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1736	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		376					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1127G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334933	0.24253	.	.	ENSG00000182348	ENST00000333190	T	0.06068	3.35	5.19	3.32	0.38043	.	0.253501	0.34580	N	0.003854	T	0.08358	0.0208	M	0.67953	2.075	0.24859	N	0.992352	B	0.21071	0.051	B	0.21917	0.037	T	0.31194	-0.9952	10	0.17832	T	0.49	-4.6952	10.6397	0.45586	0.0:0.1431:0.708:0.1489	.	376	A4D1E1	Z804B_HUMAN	N	376	ENSP00000329638:S376N	ENSP00000329638:S376N	S	+	2	0	ZNF804B	88801359	0.996000	0.38824	0.971000	0.41717	0.661000	0.39034	1.947000	0.40293	0.721000	0.32231	0.655000	0.94253	AGT		0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		13	36	0	0	0	1	0	13	36				
RS1	6247	broad.mit.edu	37	X	18674850	18674850	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:18674850T>G	ENST00000379984.3	-	3	147	c.107A>C	c.(106-108)aAa>aCa	p.K36T		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	36					adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CTTGCATGCTTTTTGGTACCA	0.567																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(106-108)aAa>aCa		retinoschisin 1							198.0	151.0	167.0					X																	18674850		2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18674850T>G	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.107A>C	X.37:g.18674850T>G	ENSP00000369320:p.Lys36Thr						p.K36T	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			3	147	-	Hepatocellular(33;0.183)		36					Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.107A>C	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.495700	0.44352	.	.	ENSG00000102104	ENST00000379984	D	0.98684	-5.07	5.15	5.15	0.70609	.	0.045214	0.85682	D	0.000000	D	0.97589	0.9210	M	0.63843	1.955	0.54753	D	0.999986	P	0.48407	0.91	P	0.45099	0.469	D	0.97039	0.9756	10	0.44086	T	0.13	.	12.8345	0.57765	0.0:0.0:0.0:1.0	.	36	O15537	XLRS1_HUMAN	T	36	ENSP00000369320:K36T	ENSP00000369320:K36T	K	-	2	0	RS1	18584771	1.000000	0.71417	0.675000	0.29917	0.088000	0.18126	3.694000	0.54742	1.812000	0.52913	0.486000	0.48141	AAA		0.567	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			40	78	0	0	0	1	0	40	78				
RNF217-AS1	7955	broad.mit.edu	37	6	125231464	125231464	+	RNA	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:125231464T>C	ENST00000439075.1	-	0	3281					NR_026876.1																						TGCATCCAAATATTTGAAAAG	0.313																																						ENST00000439075.1																			0																				50.0	49.0	49.0					6																	125231464		876	1991	2867			7955							g.chr6:125231464T>C																													6.37:g.125231464T>C								NR_026876.1						0	3281	-									RNA	SNP	ENST00000439075.1	37																																																																																						0.313	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			4	28	0	0	0	1	0	4	28				
CAMK2G	818	broad.mit.edu	37	10	75609032	75609032	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:75609032T>C	ENST00000351293.3	-	6	458	c.401A>G	c.(400-402)cAc>cGc	p.H134R	CAMK2G_ENST00000423381.1_Missense_Mutation_p.H134R|CAMK2G_ENST00000372765.1_Missense_Mutation_p.H134R|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Missense_Mutation_p.H134R|CAMK2G_ENST00000322680.3_Missense_Mutation_p.H134R|CAMK2G_ENST00000322635.3_Missense_Mutation_p.H134R|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.H134R|RP11-574K11.8_ENST00000446730.2_RNA	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CAGGTCCCTGTGGACGATGTC	0.512											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000423381.1																			0				kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15						c.(400-402)cAc>cGc		calcium/calmodulin-dependent protein kinase II gamma							119.0	94.0	103.0					10																	75609032		2203	4300	6503	SO:0001583	missense	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75609032T>C	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.401A>G	10.37:g.75609032T>C	ENSP00000277853:p.His134Arg		OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1161	CAMK2G_ENST00000305762.7_Missense_Mutation_p.H134R|CAMK2G_ENST00000394762.2_Missense_Mutation_p.H134R|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000372765.1_Missense_Mutation_p.H134R|CAMK2G_ENST00000351293.3_Missense_Mutation_p.H134R|CAMK2G_ENST00000322635.3_Missense_Mutation_p.H134R|CAMK2G_ENST00000322680.3_Missense_Mutation_p.H134R	p.H134R	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN			6	524	-	Prostate(51;0.0112)		134			Protein kinase.		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	c.401A>G	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044831	0.75732	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88636	0.6490	H	0.99498	4.595	0.80722	D	1	D;D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;0.993;0.532;1.0;1.0;0.997	D;D;D;D;P;D;D;D	0.91635	0.992;0.999;0.987;0.911;0.545;0.996;0.994;0.923	D	0.93575	0.6907	10	0.87932	D	0	.	16.0735	0.80951	0.0:0.0:0.0:1.0	.	126;134;134;134;134;134;134;134	B3KY86;Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;.;KCC2G_HUMAN;.;.	R	134;134;134;134;134;134;69;134;134	ENSP00000277853:H134R;ENSP00000315599:H134R;ENSP00000410298:H134R;ENSP00000319060:H134R;ENSP00000378243:H134R;ENSP00000393784:H69R;ENSP00000307082:H134R;ENSP00000361851:H134R	ENSP00000307082:H134R	H	-	2	0	CAMK2G	75279038	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.023000	0.88764	2.195000	0.70347	0.533000	0.62120	CAC		0.512	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169		4	33	0	0	0	1	0	4	33				
NAA30	122830	broad.mit.edu	37	14	57857969	57857969	+	Silent	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:57857969C>G	ENST00000556492.1	+	2	448	c.294C>G	c.(292-294)gcC>gcG	p.A98A	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	98					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TCCGGGCGGCCGCCTCCCTCA	0.692																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(292-294)gcC>gcG		N(alpha)-acetyltransferase 30, NatC catalytic subunit							17.0	21.0	20.0					14																	57857969		2079	4104	6183	SO:0001819	synonymous_variant	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57857969C>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.294C>G	14.37:g.57857969C>G						NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron	p.A98A	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			2	448	+			98					Q0IIN2	Silent	SNP	ENST00000556492.1	37	c.294C>G	CCDS32088.1																																																																																				0.692	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		9	68	0	0	0	1	0	9	68				
EMC2	9694	broad.mit.edu	37	8	109482343	109482343	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:109482343G>T	ENST00000220853.3	+	7	537	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	168						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TTACATCAATGAACATGAGTA	0.373																																						ENST00000220853.3																			0											c.(502-504)Gaa>Taa		ER membrane protein complex subunit 2							56.0	53.0	54.0					8																	109482343		2203	4300	6503	SO:0001587	stop_gained	9694							g.chr8:109482343G>T	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.502G>T	8.37:g.109482343G>T	ENSP00000220853:p.Glu168*					EMC2_ENST00000520294.1_3'UTR	p.E168*	NM_014673.3	NP_055488.1					7	537	+								Q8WUE1	Nonsense_Mutation	SNP	ENST00000220853.3	37	c.502G>T	CCDS6309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.697664|4.697664	0.88830|0.88830	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000220853|ENST00000519642	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80019	.|0.4547	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77582	.|-0.2534	.|3	0.07990|.	T|.	0.79|.	-16.07|-16.07	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	168|115	.|.	ENSP00000220853:E168X|.	E|M	+|+	1|3	0|0	TTC35|TTC35	109551519|109551519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.251000|9.251000	0.95483|0.95483	2.810000|2.810000	0.96702|0.96702	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.373	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		4	39	1	0	5.9392e-07	1	6.53312e-07	4	39				
ARHGAP10	79658	broad.mit.edu	37	4	148886186	148886186	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:148886186C>G	ENST00000336498.3	+	17	1701	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.P137A	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1251					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAGCGGCAGCCCAGAATCTCG	0.308																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1462-1464)Cca>Gca		Rho GTPase activating protein 10							65.0	64.0	64.0					4																	148886186		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148886186C>G	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1462C>G	4.37:g.148886186C>G	ENSP00000336923:p.Pro488Ala					ARHGAP10_ENST00000414545.2_Missense_Mutation_p.P137A	p.P488A	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	17	1701	+	all_hematologic(180;0.151)	Renal(17;0.0166)	488		P -> S (in dbSNP:rs17024215).	Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1462C>G	CCDS34075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.11|14.11	2.436750|2.436750	0.43224|0.43224	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000336498;ENST00000414545|ENST00000507661	T;T|.	0.17854|.	2.25;2.25|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.59074|0.59074	0.2167|0.2167	L|L	0.28694|0.28694	0.88|0.88	0.80722|0.80722	D|D	1|1	D;D;B|.	0.89917|.	1.0;1.0;0.176|.	D;D;B|.	0.87578|.	0.994;0.998;0.22|.	T|T	0.52704|0.52704	-0.8540|-0.8540	10|6	0.40728|.	T|.	0.16|.	.|.	19.5156|19.5156	0.95162|0.95162	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69;137;488|.	Q86T21;E7EUW5;A1A4S6|.	.;.;RHG10_HUMAN|.	A|R	488;137|165	ENSP00000336923:P488A;ENSP00000406624:P137A|.	ENSP00000336923:P488A|.	P|P	+|+	1|2	0|0	ARHGAP10|ARHGAP10	149105636|149105636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.273000|0.273000	0.26683|0.26683	7.080000|7.080000	0.76837|0.76837	2.611000|2.611000	0.88343|0.88343	0.561000|0.561000	0.74099|0.74099	CCA|CCC		0.308	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		14	39	0	0	0	1	0	14	39				
PROS1	5627	broad.mit.edu	37	3	93624662	93624662	+	Silent	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:93624662A>T	ENST00000394236.3	-	6	883	c.567T>A	c.(565-567)ggT>ggA	p.G189G	PROS1_ENST00000407433.1_Silent_p.G58G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	189	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GCATAACAAAACCATTTTTAC	0.318																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(565-567)ggT>ggA		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						71.0	72.0	71.0					3																	93624662		2203	4293	6496	SO:0001819	synonymous_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93624662A>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.567T>A	3.37:g.93624662A>T						PROS1_ENST00000407433.1_Silent_p.G58G	p.G189G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			6	883	-			189			EGF-like 2; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.567T>A	CCDS2923.1																																																																																				0.318	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		8	53	0	0	0	1	0	8	53				
RGS3	5998	broad.mit.edu	37	9	116353646	116353646	+	Missense_Mutation	SNP	G	G	A	rs368247804		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:116353646G>A	ENST00000374140.2	+	22	3258	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	RGS3_ENST00000374134.3_Missense_Mutation_p.E338K|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000462143.1_Missense_Mutation_p.E338K|RGS3_ENST00000350696.5_Missense_Mutation_p.E1017K|RGS3_ENST00000343817.5_Missense_Mutation_p.E736K|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Missense_Mutation_p.E410K	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1017					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATGATGACGAAGCCTCCCG	0.572																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3049-3051)Gaa>Aaa		regulator of G-protein signaling 3		G	LYS/GLU,LYS/GLU,,LYS/GLU	0,4406		0,0,2203	99.0	90.0	93.0		1012,2206,,3049	4.9	0.1	9		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense	RGS3	NM_021106.3,NM_130795.2,NM_134427.1,NM_144488.4	56,56,,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,benign	338/520,736/918,,1017/1199	116353646	1,13005	2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116353646G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3049G>A	9.37:g.116353646G>A	ENSP00000363255:p.Glu1017Lys					RGS3_ENST00000394646.3_Missense_Mutation_p.E410K|RGS3_ENST00000462143.1_Missense_Mutation_p.E338K|RGS3_ENST00000374134.3_Missense_Mutation_p.E338K|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.E736K|RGS3_ENST00000350696.5_Missense_Mutation_p.E1017K	p.E1017K	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			22	3258	+			1017					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3049G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630151	0.46944	0.0	1.16E-4	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;T;T	0.79352	0.83;0.83;0.33;2.58;0.27;0.27;-1.26	4.95	4.95	0.65309	.	0.245101	0.32372	N	0.006181	T	0.79100	0.4389	L	0.43152	1.355	0.80722	D	1	D;B;P;D;P;P;P	0.65815	0.995;0.002;0.709;0.987;0.846;0.716;0.716	P;B;B;P;B;B;B	0.54346	0.749;0.002;0.09;0.656;0.131;0.058;0.058	T	0.77544	-0.2548	10	0.33141	T	0.24	.	14.9719	0.71241	0.0:0.0:1.0:0.0	.	356;410;913;338;736;907;1017	B4DWF9;B3KUB2;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;.;RGS3_HUMAN	K	1017;1017;736;410;185;338;338;183	ENSP00000363255:E1017K;ENSP00000259406:E1017K;ENSP00000340284:E736K;ENSP00000378141:E410K;ENSP00000420356:E338K;ENSP00000363249:E338K;ENSP00000417994:E183K	ENSP00000340284:E736K	E	+	1	0	RGS3	115393467	1.000000	0.71417	0.082000	0.20525	0.326000	0.28443	6.279000	0.72620	2.303000	0.77524	0.555000	0.69702	GAA		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		16	74	0	0	0	1	0	16	74				
RNF219	79596	broad.mit.edu	37	13	79213140	79213140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr13:79213140G>A	ENST00000282003.6	-	4	425	c.367C>T	c.(367-369)Cag>Tag	p.Q123*		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	123							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTTTTGATCTGTGACTCCAAG	0.378																																						ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(367-369)Cag>Tag		ring finger protein 219							128.0	124.0	125.0					13																	79213140		2203	4300	6503	SO:0001587	stop_gained	79596						zinc ion binding	g.chr13:79213140G>A	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.367C>T	13.37:g.79213140G>A	ENSP00000282003:p.Gln123*						p.Q123*	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	4	425	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	123					B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Nonsense_Mutation	SNP	ENST00000282003.6	37	c.367C>T	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368402	0.95900	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.38	5.38	0.77491	.	0.191546	0.45867	D	0.000321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-4.7486	14.7379	0.69430	0.0:0.1443:0.8557:0.0	.	.	.	.	X	123	.	ENSP00000282003:Q123X	Q	-	1	0	RNF219	78111141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.863000	0.75489	2.515000	0.84797	0.655000	0.94253	CAG		0.378	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		16	52	0	0	0	1	0	16	52				
HGD	3081	broad.mit.edu	37	3	120352085	120352085	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:120352085C>T	ENST00000283871.5	-	13	1556	c.1097G>A	c.(1096-1098)aGc>aAc	p.S366N		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	366					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTCATTGTGCTGTGTAGACT	0.557																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(1096-1098)aGc>aAc		homogentisate 1,2-dioxygenase							145.0	115.0	125.0					3																	120352085		2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120352085C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1097G>A	3.37:g.120352085C>T	ENSP00000283871:p.Ser366Asn						p.S366N	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	13	1556	-			366					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.1097G>A	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	5.570	0.289972	0.10567	.	.	ENSG00000113924	ENST00000283871	D	0.98889	-5.21	5.2	4.32	0.51571	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	N	0.21282	0.65	0.58432	D	0.999999	B	0.23937	0.094	B	0.32724	0.151	D	0.92476	0.5989	10	0.02654	T	1	-27.8612	15.0321	0.71717	0.0:0.8574:0.1426:0.0	.	366	Q93099	HGD_HUMAN	N	366	ENSP00000283871:S366N	ENSP00000283871:S366N	S	-	2	0	HGD	121834775	1.000000	0.71417	0.861000	0.33841	0.531000	0.34715	4.502000	0.60400	1.408000	0.46895	0.460000	0.39030	AGC		0.557	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			5	149	0	0	0	1	0	5	149				
ZNF733P	643955	broad.mit.edu	37	7	62753190	62753190	+	RNA	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:62753190G>T	ENST00000331425.6	-	0	245					NR_003952.1				zinc finger protein 733, pseudogene																		TGGGTGAAATGGGAATGCGTA	0.353																																						ENST00000331425.6																			0																																																			643955							g.chr7:62753190G>T			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62753190G>T								NR_003952.1						0	245	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.353	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			23	39	1	0	2.39556e-15	1	2.90638e-15	23	39				
MPRIP	23164	broad.mit.edu	37	17	17045999	17045999	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:17045999G>C	ENST00000341712.4	+	8	955	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	MPRIP_ENST00000395804.3_Missense_Mutation_p.E319Q|MPRIP_ENST00000395811.5_Missense_Mutation_p.E319Q|MPRIP_ENST00000444976.1_Missense_Mutation_p.E319Q			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	319	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGAGCACATGGAGACCAATGC	0.617																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(955-957)Gag>Cag		myosin phosphatase Rho interacting protein							92.0	83.0	86.0					17																	17045999		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17045999G>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.955G>C	17.37:g.17045999G>C	ENSP00000342379:p.Glu319Gln					MPRIP_ENST00000395804.3_Missense_Mutation_p.E319Q|MPRIP_ENST00000341712.4_Missense_Mutation_p.E319Q|MPRIP_ENST00000444976.1_Missense_Mutation_p.E319Q	p.E319Q	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			8	1044	+			319			Interaction with F-actin (By similarity).		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.955G>C	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098487	0.94197	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.28069	1.63;2.09;2.08;2.08	5.18	5.18	0.71444	.	.	.	.	.	T	0.51873	0.1700	L	0.54323	1.7	0.53688	D	0.999972	D;B	0.76494	0.999;0.085	D;B	0.70716	0.97;0.017	T	0.49234	-0.8961	9	0.48119	T	0.1	.	18.6994	0.91615	0.0:0.0:1.0:0.0	.	319;319	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	Q	319	ENSP00000400189:E319Q;ENSP00000379156:E319Q;ENSP00000379149:E319Q;ENSP00000342379:E319Q	ENSP00000342379:E319Q	E	+	1	0	MPRIP	16986724	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.140000	0.94607	2.414000	0.81942	0.655000	0.94253	GAG		0.617	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		15	114	0	0	0	1	0	15	114				
DSCAM	1826	broad.mit.edu	37	21	42080673	42080673	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr21:42080673C>A	ENST00000400454.1	-	2	545	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	23					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAGTAGAGGCTGGAGTGTAG	0.517																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(67-69)aGc>aTc		Down syndrome cell adhesion molecule							93.0	96.0	95.0					21																	42080673		1982	4145	6127	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42080673C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.68G>T	21.37:g.42080673C>A	ENSP00000383303:p.Ser23Ile						p.S23I	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			2	545	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	23					O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.68G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388666	0.82902	.	.	ENSG00000171587	ENST00000400454	T	0.60299	0.2	4.95	4.95	0.65309	.	0.099263	0.64402	D	0.000002	T	0.74015	0.3661	M	0.69823	2.125	0.47009	D	0.999289	D	0.61697	0.99	D	0.69142	0.962	T	0.74682	-0.3583	10	0.45353	T	0.12	.	16.7439	0.85467	0.0:1.0:0.0:0.0	.	23	O60469	DSCAM_HUMAN	I	23	ENSP00000383303:S23I	ENSP00000383303:S23I	S	-	2	0	DSCAM	41002543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.354000	0.79424	2.467000	0.83353	0.585000	0.79938	AGC		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		34	146	1	0	2.80507e-11	1	3.25941e-11	34	146				
ZRSR1	7310	broad.mit.edu	37	5	112227799	112227799	+	Missense_Mutation	SNP	A	A	G	rs712665	byFrequency	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:112227799A>G	ENST00000391338.1	+	1	487	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|CTC-487M23.5_ENST00000602872.1_RNA|REEP5_ENST00000545426.1_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	155						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						TTTAGAAAATAGTACCACATG	0.433													G|||	1884	0.376198	0.6831	0.2867	5008	,	,		20786	0.1815		0.3638	False		,,,				2504	0.2382					ENST00000391338.1																			0				breast(1)|skin(1)|stomach(2)	4						c.(463-465)Agt>Ggt		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001583	missense	7310							g.chr5:112227799A>G	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.463A>G	5.37:g.112227799A>G	ENSP00000375133:p.Ser155Gly					REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR	p.S155G	NM_001204199.1	NP_001191128.1					1	487	+								B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.463A>G		797	0.3649267399267399	315	0.6402439024390244	109	0.3011049723756906	109	0.19055944055944055	264	0.3482849604221636	G	2.141	-0.396859	0.04899	.	.	ENSG00000212643	ENST00000391338	.	.	.	2.31	2.31	0.28768	.	0.322273	0.37219	N	0.002193	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.47086	-0.9144	7	0.02654	T	1	.	7.0754	0.25201	0.154:0.0:0.846:0.0	rs712665;rs1619690;rs3733965;rs58992073;rs712665	155	Q15695	U2AFL_HUMAN	G	155	.	ENSP00000375133:S155G	S	+	1	0	ZRSR1	112255698	1.000000	0.71417	0.026000	0.17262	0.556000	0.35491	2.463000	0.45058	0.094000	0.17404	-0.349000	0.07799	AGT		0.433	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		4	72	0	0	0	1	0	4	72				
POMT2	29954	broad.mit.edu	37	14	77745121	77745121	+	Silent	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:77745121G>C	ENST00000261534.4	-	19	2185	c.1983C>G	c.(1981-1983)ctC>ctG	p.L661L		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	661						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGTGGAAGTAGAGGACCCGGC	0.617																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1981-1983)ctC>ctG		protein-O-mannosyltransferase 2							92.0	78.0	83.0					14																	77745121		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77745121G>C	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1983C>G	14.37:g.77745121G>C							p.L661L	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	19	2185	-			661					Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.1983C>G	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972282	0.18736	.	.	ENSG00000009830	ENST00000556171	.	.	.	5.68	2.78	0.32641	.	.	.	.	.	T	0.58977	0.2160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54070	-0.8348	4	.	.	.	-20.4453	9.7722	0.40595	0.1299:0.1147:0.7554:0.0	.	.	.	.	C	192	.	.	S	-	2	0	POMT2	76814874	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.285000	0.33261	0.731000	0.32448	0.491000	0.48974	TCT		0.617	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		42	63	0	0	0	1	0	42	63				
CCND1	595	broad.mit.edu	37	11	69462817	69462817	+	Silent	SNP	C	C	T	rs146267501		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:69462817C>T	ENST00000227507.2	+	4	857	c.630C>T	c.(628-630)gcC>gcT	p.A210A	CCND1_ENST00000536559.1_3'UTR	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	210					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A210A(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCGTGGTGGCCGCAGTGCAAG	0.597			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	"""IGH@, FSTL3"""		"""CLL, B-ALL, breast"""		1	Substitution - coding silent(1)	p.A210A(1)	lung(1)	NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(628-630)gcC>gcT		cyclin D1	Arsenic trioxide(DB01169)	C		1,4399	2.1+/-5.4	0,1,2199	124.0	118.0	120.0		630	-6.0	0.4	11	dbSNP_134	120	0,8588		0,0,4294	no	coding-synonymous	CCND1	NM_053056.2		0,1,6493	TT,TC,CC		0.0,0.0227,0.0077		210/296	69462817	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69462817C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.630C>T	11.37:g.69462817C>T		Multiple Myeloma(6;0.086)				CCND1_ENST00000536559.1_3'UTR	p.A210A	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		4	857	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		210					Q6LEF0	Silent	SNP	ENST00000227507.2	37	c.630C>T	CCDS8191.1																																																																																				0.597	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		35	251	0	0	0	1	0	35	251				
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACTGCTTGTAGATGGCCATG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(487-489)Tac>Cac	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578443		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578443A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.487T>C	17.37:g.7578443A>G	ENSP00000269305:p.Tyr163His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H	p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	619	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.487T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916592	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.53005	D	0.999963	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.983;0.999;0.999;0.999;0.994	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H	ENSP00000269305:Y163H	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	71	0	0	0	1	0	42	71				
LOC645752	645752	broad.mit.edu	37	15	78213768	78213768	+	lincRNA	SNP	C	C	A	rs12904130	byFrequency	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr15:78213768C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GGCGGCCAGCCAGATCCTTGG	0.542													c|||	706	0.140974	0.093	0.17	5008	,	,		19168	0.1101		0.2406	False		,,,				2504	0.1145					ENST00000565869.1																			0																																																			645752							g.chr15:78213768C>A																													15.37:g.78213768C>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.542	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	116	1	0	0.00116845	1	0.00119008	5	116				
TCHHL1	126637	broad.mit.edu	37	1	152059535	152059535	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:152059535G>A	ENST00000368806.1	-	3	687	c.623C>T	c.(622-624)aCa>aTa	p.T208I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	208							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGGCTTATTTGTCTTAAGTTG	0.448																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(622-624)aCa>aTa		trichohyalin-like 1							141.0	126.0	131.0					1																	152059535		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152059535G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.623C>T	1.37:g.152059535G>A	ENSP00000357796:p.Thr208Ile						p.T208I	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	687	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		208					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.623C>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	14.90	2.673312	0.47781	.	.	ENSG00000182898	ENST00000368806	T	0.25085	1.82	5.1	0.268	0.15626	.	0.447229	0.16849	N	0.197030	T	0.08358	0.0208	L	0.57536	1.79	0.09310	N	1	B	0.19583	0.037	B	0.22880	0.042	T	0.28235	-1.0050	10	0.44086	T	0.13	-0.4756	3.9641	0.09423	0.0938:0.2783:0.4777:0.1503	.	208	Q5QJ38	TCHL1_HUMAN	I	208	ENSP00000357796:T208I	ENSP00000357796:T208I	T	-	2	0	TCHHL1	150326159	0.011000	0.17503	0.002000	0.10522	0.653000	0.38743	0.482000	0.22276	0.146000	0.19002	0.557000	0.71058	ACA		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		11	69	0	0	0	1	0	11	69				
PTPRB	5787	broad.mit.edu	37	12	70946777	70946777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:70946777G>A	ENST00000261266.5	-	19	4542	c.4513C>T	c.(4513-4515)Cag>Tag	p.Q1505*	PTPRB_ENST00000334414.6_Nonsense_Mutation_p.Q1723*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Q1635*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Q1415*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1505	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGTGCTGCTGTTCTGGCTTC	0.453																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5167-5169)Cag>Tag		protein tyrosine phosphatase, receptor type, B							161.0	161.0	161.0					12																	70946777		2007	4198	6205	SO:0001587	stop_gained	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70946777G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4513C>T	12.37:g.70946777G>A	ENSP00000261266:p.Gln1505*					PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.Q1505*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Q1635*	p.Q1723*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		21	5211	-	Renal(347;0.236)		1505			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000261266.5	37	c.5167C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	42	9.331731	0.99138	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.76	5.76	0.90799	.	0.432765	0.26907	N	0.021888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	15.3286	0.74186	0.0:0.2454:0.7546:0.0	.	.	.	.	X	1723;1415;1635;1415;1415;1505	.	ENSP00000261266:Q1505X	Q	-	1	0	PTPRB	69233044	0.981000	0.34729	0.155000	0.22561	0.631000	0.37964	6.007000	0.70731	2.714000	0.92807	0.591000	0.81541	CAG		0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			27	172	0	0	0	1	0	27	172				
RAG2	5897	broad.mit.edu	37	11	36614687	36614687	+	Silent	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:36614687A>G	ENST00000311485.3	-	2	1193	c.1032T>C	c.(1030-1032)taT>taC	p.Y344Y	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000534635.1_5'Flank|RAG2_ENST00000528428.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	344					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ACATATAGAAATAGAATCCTT	0.383									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(1030-1032)taT>taC		recombination activating gene 2							175.0	172.0	173.0					11																	36614687		2202	4298	6500	SO:0001819	synonymous_variant	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614687A>G	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1032T>C	11.37:g.36614687A>G							p.Y344Y	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	1193	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	344					A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	37	c.1032T>C	CCDS7903.1																																																																																				0.383	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		42	113	0	0	0	1	0	42	113				
CDH19	28513	broad.mit.edu	37	18	64172441	64172441	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:64172441C>T	ENST00000262150.2	-	12	2219	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCCCCTTCATCATCATATTGG	0.403																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(1927-1929)Gat>Aat		cadherin 19, type 2							157.0	159.0	158.0					18																	64172441		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172441C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1927G>A	18.37:g.64172441C>T	ENSP00000262150:p.Asp643Asn					CDH19_ENST00000540086.1_3'UTR	p.D643N	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			12	2219	-		Esophageal squamous(42;0.0132)	643					O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1927G>A	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.095416	0.76870	.	.	ENSG00000071991	ENST00000262150	D	0.82984	-1.67	5.18	5.18	0.71444	Cadherin, cytoplasmic domain (1);	0.170083	0.49916	D	0.000136	D	0.93396	0.7894	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94728	0.7907	10	0.87932	D	0	.	19.0693	0.93126	0.0:1.0:0.0:0.0	.	643	Q9H159	CAD19_HUMAN	N	643	ENSP00000262150:D643N	ENSP00000262150:D643N	D	-	1	0	CDH19	62323421	1.000000	0.71417	0.237000	0.24090	0.274000	0.26718	7.284000	0.78650	2.564000	0.86499	0.650000	0.86243	GAT		0.403	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		30	171	0	0	0	1	0	30	171				
GPR149	344758	broad.mit.edu	37	3	154146466	154146466	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:154146466C>A	ENST00000389740.2	-	1	1038	c.939G>T	c.(937-939)ttG>ttT	p.L313F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	313					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCGCTAGGATCAAAGCGAAGC	0.572																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(937-939)ttG>ttT		G protein-coupled receptor 149							101.0	100.0	100.0					3																	154146466		1975	4148	6123	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146466C>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.939G>T	3.37:g.154146466C>A	ENSP00000374390:p.Leu313Phe						p.L313F	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	1038	-			313						Missense_Mutation	SNP	ENST00000389740.2	37	c.939G>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857445	0.71834	.	.	ENSG00000174948	ENST00000389740	T	0.39229	1.09	4.87	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.063428	0.64402	D	0.000005	T	0.65903	0.2736	M	0.82517	2.595	0.47819	D	0.99952	D	0.76494	0.999	D	0.72338	0.977	T	0.71397	-0.4605	10	0.87932	D	0	-11.0543	14.7453	0.69485	0.0:0.7245:0.2755:0.0	.	313	Q86SP6	GP149_HUMAN	F	313	ENSP00000374390:L313F	ENSP00000374390:L313F	L	-	3	2	GPR149	155629160	1.000000	0.71417	0.985000	0.45067	0.890000	0.51754	3.345000	0.52182	0.442000	0.26555	-0.175000	0.13238	TTG		0.572	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		41	227	1	0	3.43241e-23	1	4.29052e-23	41	227				
LYPLAL1	127018	broad.mit.edu	37	1	219366442	219366442	+	Silent	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:219366442A>G	ENST00000366928.5	+	3	257	c.210A>G	c.(208-210)aaA>aaG	p.K70K	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Intron	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	70					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		CTCCTATGAAAGGAGGAATCT	0.358																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.(208-210)aaA>aaG		lysophospholipase-like 1							62.0	59.0	60.0					1																	219366442		2202	4299	6501	SO:0001819	synonymous_variant	127018					cytoplasm	lysophospholipase activity	g.chr1:219366442A>G	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.210A>G	1.37:g.219366442A>G						LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Intron	p.K70K	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	3	257	+			70					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Silent	SNP	ENST00000366928.5	37	c.210A>G	CCDS1522.1																																																																																				0.358	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		7	25	0	0	0	1	0	7	25				
SH3GL2	6456	broad.mit.edu	37	9	17793390	17793390	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:17793390A>T	ENST00000380607.4	+	8	874	c.754A>T	c.(754-756)Aga>Tga	p.R252*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.R205*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	252					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		ATCTCAGCCTAGAAGGGAATA	0.428																																						ENST00000380607.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(754-756)Aga>Tga		SH3-domain GRB2-like 2							90.0	84.0	86.0					9																	17793390		2203	4300	6503	SO:0001587	stop_gained	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17793390A>T	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.754A>T	9.37:g.17793390A>T	ENSP00000369981:p.Arg252*					SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.R205*	p.R252*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	8	874	+			252					B2R618|Q9NQK5	Nonsense_Mutation	SNP	ENST00000380607.4	37	c.754A>T	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	A	37	6.085804	0.97271	.	.	ENSG00000107295	ENST00000541215;ENST00000380607;ENST00000537391	.	.	.	5.72	3.3	0.37823	.	0.240936	0.38217	N	0.001763	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7834	0.57489	0.7701:0.2299:0.0:0.0	.	.	.	.	X	81;252;205	.	ENSP00000369981:R252X	R	+	1	2	SH3GL2	17783390	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.956000	0.49129	0.407000	0.25591	0.459000	0.35465	AGA		0.428	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		10	33	0	0	0	1	0	10	33				
ZEB1	6935	broad.mit.edu	37	10	31815878	31815878	+	Missense_Mutation	SNP	G	G	T	rs142629102		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:31815878G>T	ENST00000320985.10	+	9	3171	c.3061G>T	c.(3061-3063)Gac>Tac	p.D1021Y	ZEB1_ENST00000560721.2_Missense_Mutation_p.D1001Y|ZEB1_ENST00000542815.3_Missense_Mutation_p.D954Y|ZEB1_ENST00000361642.5_Missense_Mutation_p.D1022Y|ZEB1_ENST00000446923.2_Missense_Mutation_p.D1005Y			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1021	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCACAGGGCGACTCGGACGA	0.527																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(3013-3015)Gac>Tac		zinc finger E-box binding homeobox 1							67.0	63.0	65.0					10																	31815878		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815878G>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3061G>T	10.37:g.31815878G>T	ENSP00000319248:p.Asp1021Tyr					ZEB1_ENST00000542815.3_Missense_Mutation_p.D954Y|ZEB1_ENST00000320985.10_Missense_Mutation_p.D1021Y|ZEB1_ENST00000560721.2_Missense_Mutation_p.D1001Y|ZEB1_ENST00000361642.5_Missense_Mutation_p.D1022Y	p.D1005Y	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3404	+		Prostate(175;0.0156)	1021			Glu-rich (acidic).		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.3013G>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946285	0.53079	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.14766	2.78;2.48;2.53;2.48;2.52	5.19	5.19	0.71726	.	2.813870	0.01405	N	0.013749	T	0.45377	0.1339	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.999;0.998;0.998	T	0.02301	-1.1180	10	0.87932	D	0	-14.777	18.7127	0.91664	0.0:0.0:1.0:0.0	.	954;1005;1001;1022;1021	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	Y	803;1021;1022;1016;954;1021;1001;912;1005	ENSP00000444282:D803Y;ENSP00000354487:D1022Y;ENSP00000444891:D954Y;ENSP00000319248:D1021Y;ENSP00000391612:D1005Y	ENSP00000319248:D1021Y	D	+	1	0	ZEB1	31855884	1.000000	0.71417	0.846000	0.33378	0.169000	0.22640	8.022000	0.88759	2.425000	0.82216	0.650000	0.86243	GAC		0.527	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		4	74	1	0	1.23904e-05	1	1.31898e-05	4	74				
ZNF678	339500	broad.mit.edu	37	1	227842412	227842412	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:227842412A>C	ENST00000343776.5	+	4	806	c.461A>C	c.(460-462)aAa>aCa	p.K154T	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.K209T	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AAACCCTACAAATGTGACGAA	0.358																																						ENST00000343776.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(460-462)aAa>aCa		zinc finger protein 678							59.0	69.0	65.0					1																	227842412		2200	4297	6497	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842412A>C	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.461A>C	1.37:g.227842412A>C	ENSP00000344828:p.Lys154Thr					ZNF678_ENST00000397097.3_Missense_Mutation_p.K209T|ZNF678_ENST00000498759.1_Intron	p.K154T			F5GXA7	F5GXA7_HUMAN			4	806	+		Prostate(94;0.0885)	209					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.461A>C		.	.	.	.	.	.	.	.	.	.	A	9.976	1.226844	0.22542	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	T;T;T	0.58060	0.36;0.36;2.19	1.34	-0.326	0.12698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45915	0.1366	L	0.43554	1.36	0.09310	N	1	B	0.25609	0.13	B	0.38378	0.272	T	0.51052	-0.8754	9	0.52906	T	0.07	.	4.3753	0.11267	0.4628:0.0:0.0:0.5372	.	154	Q5SXM1	ZN678_HUMAN	T	154;209;209	ENSP00000344828:K154T;ENSP00000440403:K209T;ENSP00000394651:K209T	ENSP00000344828:K154T	K	+	2	0	ZNF678	225909035	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.416000	0.07097	-0.379000	0.07906	-0.422000	0.05995	AAA		0.358	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		22	59	0	0	0	1	0	22	59				
USP7	7874	broad.mit.edu	37	16	8998332	8998332	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:8998332C>T	ENST00000344836.4	-	15	1862	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	USP7_ENST00000535863.1_Missense_Mutation_p.R456Q|USP7_ENST00000381886.4_Missense_Mutation_p.R539Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	555					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCGCTCCTTCCGCTTCTGAGC	0.562																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1663-1665)cGg>cAg		ubiquitin specific peptidase 7 (herpes virus-associated)							107.0	91.0	97.0					16																	8998332		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8998332C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1664G>A	16.37:g.8998332C>T	ENSP00000343535:p.Arg555Gln					USP7_ENST00000381886.4_Missense_Mutation_p.R539Q|USP7_ENST00000535863.1_Missense_Mutation_p.R456Q	p.R555Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			15	1862	-			555					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1664G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542688	0.96474	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.07908	3.15;3.17	4.98	4.98	0.66077	Peptidase C19  domain (1);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.961;0.971	T	0.04664	-1.0935	10	0.40728	T	0.16	.	18.2392	0.89961	0.0:1.0:0.0:0.0	.	555;539	Q93009;B7Z815	UBP7_HUMAN;.	Q	555;563;456;456	ENSP00000343535:R555Q;ENSP00000443646:R456Q	ENSP00000343535:R555Q	R	-	2	0	USP7	8905833	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.723000	0.84788	2.293000	0.77203	0.455000	0.32223	CGG		0.562	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			18	89	0	0	0	1	0	18	89				
ZNF507	22847	broad.mit.edu	37	19	32845186	32845186	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:32845186A>G	ENST00000311921.4	+	2	1642	c.1450A>G	c.(1450-1452)Agg>Ggg	p.R484G	ZNF507_ENST00000355898.5_Missense_Mutation_p.R484G|ZNF507_ENST00000544431.1_Missense_Mutation_p.R484G	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AGGCCGGAGAAGGACAAATTC	0.478																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(1450-1452)Agg>Ggg		zinc finger protein 507							67.0	69.0	68.0					19																	32845186		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845186A>G	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1450A>G	19.37:g.32845186A>G	ENSP00000312277:p.Arg484Gly					ZNF507_ENST00000355898.5_Missense_Mutation_p.R484G|ZNF507_ENST00000544431.1_Missense_Mutation_p.R484G|ZNF507_ENST00000587084.1_3'UTR	p.R484G	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1642	+	Esophageal squamous(110;0.162)		484					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1450A>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.309688	0.60414	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.18657	2.52;2.52;2.2	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.75264	2.295	0.48087	D	0.999588	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.45862	-0.9232	10	0.51188	T	0.08	.	16.1415	0.81528	1.0:0.0:0.0:0.0	.	484;484	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	G	484	ENSP00000348162:R484G;ENSP00000312277:R484G;ENSP00000441549:R484G	ENSP00000312277:R484G	R	+	1	2	ZNF507	37537026	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.702000	0.61817	2.198000	0.70561	0.533000	0.62120	AGG		0.478	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		19	80	0	0	0	1	0	19	80				
KMT2D	8085	broad.mit.edu	37	12	49433280	49433280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:49433280C>A	ENST00000301067.7	-	32	8166	c.8167G>T	c.(8167-8169)Gag>Tag	p.E2723*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2723					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTGCTGGGCTCAGCACCCCAG	0.627																																						ENST00000301067.7																			0											c.(8167-8169)Gag>Tag		lysine (K)-specific methyltransferase 2D							19.0	20.0	20.0					12																	49433280		2017	4179	6196	SO:0001587	stop_gained	8085							g.chr12:49433280C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8167G>T	12.37:g.49433280C>A	ENSP00000301067:p.Glu2723*						p.E2723*	NM_003482.3	NP_003473.3					32	8166	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.8167G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	49	15.984361	0.99851	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.45	5.45	0.79879	.	0.000000	0.38897	N	0.001527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.432	0.90628	0.0:1.0:0.0:0.0	.	.	.	.	X	2723	.	ENSP00000301067:E2723X	E	-	1	0	MLL2	47719547	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.808000	0.55598	2.729000	0.93468	0.655000	0.94253	GAG		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	40	1	0	0.184627	1	0.184627	5	40				
C11orf73	51501	broad.mit.edu	37	11	86056626	86056626	+	Splice_Site	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:86056626G>A	ENST00000278483.3	+	5	766	c.540G>A	c.(538-540)tgG>tgA	p.W180*	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_3'UTR	NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73	180					cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)			kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TCTTTTCTAGGTATGAAAACT	0.264																																						ENST00000278483.3																			0				kidney(1)|large_intestine(1)|urinary_tract(1)	3						c.e5-1		chromosome 11 open reading frame 73							42.0	47.0	45.0					11																	86056626		2192	4269	6461	SO:0001630	splice_region_variant	51501					cytoplasm		g.chr11:86056626G>A	BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.540-1G>A	11.37:g.86056626G>A						C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_3'UTR	p.W180_splice	NM_016401.3	NP_057485.2	Q53FT3	CK073_HUMAN			5	766	+		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)	180					Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	Splice_Site	SNP	ENST00000278483.3	37	c.539_splice	CCDS8275.1	.	.	.	.	.	.	.	.	.	.	G	36	5.690759	0.96793	.	.	ENSG00000149196	ENST00000278483	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3322	0.94295	0.0:0.0:1.0:0.0	.	.	.	.	X	180	.	.	W	+	3	0	C11orf73	85734274	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.230000	0.78097	2.654000	0.90174	0.460000	0.39030	TGG		0.264	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393747.1	NM_016401	Nonsense_Mutation	3	33	0	0	0	1	0	3	33				
DPY19L4	286148	broad.mit.edu	37	8	95773967	95773967	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:95773967T>A	ENST00000414645.2	+	8	874	c.775T>A	c.(775-777)Ttt>Att	p.F259I		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	259						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AACTTACACATTTATGATGAT	0.343																																						ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(775-777)Ttt>Att		dpy-19-like 4 (C. elegans)							146.0	128.0	134.0					8																	95773967		2202	4300	6502	SO:0001583	missense	286148					integral to membrane		g.chr8:95773967T>A		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.775T>A	8.37:g.95773967T>A	ENSP00000389630:p.Phe259Ile						p.F259I	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			8	874	+	Breast(36;3.85e-06)		259					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.775T>A	CCDS34924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.232974|4.232974	0.79688|0.79688	.|.	.|.	ENSG00000156162|ENSG00000156162	ENST00000414645|ENST00000523020	T|.	0.57752|.	0.38|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.056217|.	0.64402|.	D|.	0.000001|.	T|T	0.73369|0.73369	0.3578|0.3578	M|M	0.74647|0.74647	2.275|2.275	0.52099|0.52099	D|D	0.999945|0.999945	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.74740|0.74740	-0.3563|-0.3563	10|5	0.59425|.	D|.	0.04|.	-18.5041|-18.5041	14.136|14.136	0.65289|0.65289	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	259|.	Q7Z388|.	D19L4_HUMAN|.	I|N	259|102	ENSP00000389630:F259I|.	ENSP00000389630:F259I|.	F|I	+|+	1|2	0|0	DPY19L4|DPY19L4	95843143|95843143	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.996000|0.996000	0.88848|0.88848	5.071000|5.071000	0.64382|0.64382	1.739000|1.739000	0.51704|0.51704	0.482000|0.482000	0.46254|0.46254	TTT|ATT		0.343	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		9	38	0	0	0	1	0	9	38				
HIPK4	147746	broad.mit.edu	37	19	40895722	40895722	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:40895722G>A	ENST00000291823.2	-	1	372	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGCTCCGCCGCCAGCCCTTG	0.607																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(88-90)Cgg>Tgg		homeodomain interacting protein kinase 4							96.0	78.0	84.0					19																	40895722		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40895722G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.88C>T	19.37:g.40895722G>A	ENSP00000291823:p.Arg30Trp						p.R30W	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		1	372	-			30			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.88C>T	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162692	0.78226	.	.	ENSG00000160396	ENST00000291823	T	0.20738	2.05	5.14	4.09	0.47781	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000335	T	0.33059	0.0850	L	0.37697	1.125	0.46336	D	0.998996	D	0.76494	0.999	D	0.68765	0.96	T	0.06826	-1.0805	10	0.87932	D	0	.	11.2012	0.48743	0.0:0.0:0.5469:0.4531	.	30	Q8NE63	HIPK4_HUMAN	W	30	ENSP00000291823:R30W	ENSP00000291823:R30W	R	-	1	2	HIPK4	45587562	0.900000	0.30661	1.000000	0.80357	0.997000	0.91878	0.994000	0.29693	1.357000	0.45904	0.563000	0.77884	CGG		0.607	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		25	120	0	0	0	1	0	25	120				
KDM6A	7403	broad.mit.edu	37	X	44942798	44942798	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:44942798A>G	ENST00000377967.4	+	23	3419	c.3378A>G	c.(3376-3378)atA>atG	p.I1126M	KDM6A_ENST00000536777.1_Missense_Mutation_p.I1081M|KDM6A_ENST00000543216.1_Missense_Mutation_p.I1047M|KDM6A_ENST00000382899.4_Missense_Mutation_p.I1133M	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1126	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTCATACCATATTGGGCATGA	0.398			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3376-3378)atA>atG		lysine (K)-specific demethylase 6A							145.0	103.0	117.0					X																	44942798		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44942798A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3378A>G	X.37:g.44942798A>G	ENSP00000367203:p.Ile1126Met					KDM6A_ENST00000543216.1_Missense_Mutation_p.I1047M|KDM6A_ENST00000382899.4_Missense_Mutation_p.I1133M|KDM6A_ENST00000536777.1_Missense_Mutation_p.I1081M	p.I1126M	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			23	3419	+			1126			JmjC.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.3378A>G	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.30|17.30	3.354077|3.354077	0.61293|0.61293	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|T;T	0.26518|0.28666	1.75;1.73;1.74;1.74|1.6;1.6	5.33|5.33	4.09|4.09	0.47781|0.47781	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.53690|0.53690	0.1812|0.1812	M|M	0.91090|0.91090	3.175|3.175	0.58432|0.58432	D|D	0.999998|0.999998	D;P;P;P;P|.	0.61697|.	0.99;0.891;0.954;0.871;0.783|.	P;P;D;P;P|.	0.63488|.	0.758;0.568;0.915;0.77;0.714|.	T|T	0.59794|0.59794	-0.7387|-0.7387	10|8	0.87932|0.62326	D|D	0|0.03	-2.9462|-2.9462	6.6888|6.6888	0.23160|0.23160	0.6307:0.2409:0.0:0.1284|0.6307:0.2409:0.0:0.1284	.|.	765;1133;1081;1178;1126|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	M|V	823;1126;1081;1133;1047|724;769	ENSP00000367203:I1126M;ENSP00000437405:I1081M;ENSP00000372355:I1133M;ENSP00000443078:I1047M|ENSP00000405910:I724V;ENSP00000398929:I769V	ENSP00000334340:I823M|ENSP00000405910:I724V	I|I	+|+	3|1	3|0	KDM6A|KDM6A	44827742|44827742	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.994000|0.994000	0.84299|0.84299	2.471000|2.471000	0.45127|0.45127	1.773000|1.773000	0.52216|0.52216	0.472000|0.472000	0.43445|0.43445	ATA|ATT		0.398	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		5	18	0	0	0	1	0	5	18				
LVRN	206338	broad.mit.edu	37	5	115350182	115350182	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:115350182C>T	ENST00000357872.4	+	16	2532	c.2408C>T	c.(2407-2409)tCa>tTa	p.S803L	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		803						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CTTCAGCTGTCAAAAGAACTT	0.353																																						ENST00000357872.4																			0											c.(2407-2409)tCa>tTa									111.0	106.0	108.0					5																	115350182		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115350182C>T																												ENST00000357872.4:c.2408C>T	5.37:g.115350182C>T	ENSP00000350541:p.Ser803Leu					AQPEP_ENST00000515454.1_3'UTR	p.S803L	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			16	2532	+			803					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2408C>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395074	0.62066	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06068	3.35	5.37	5.37	0.77165	.	0.268975	0.25119	N	0.032984	T	0.24353	0.0590	M	0.78801	2.425	0.80722	D	1	D	0.61080	0.989	D	0.64595	0.927	T	0.00268	-1.1862	10	0.72032	D	0.01	.	14.6085	0.68498	0.0:1.0:0.0:0.0	.	803	Q6Q4G3	AMPQ_HUMAN	L	803;792	ENSP00000350541:S803L	ENSP00000350541:S803L	S	+	2	0	AC010282.1	115378081	0.997000	0.39634	0.999000	0.59377	0.599000	0.36880	2.983000	0.49345	2.503000	0.84419	0.591000	0.81541	TCA		0.353	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			12	45	0	0	0	1	0	12	45				
COL6A6	131873	broad.mit.edu	37	3	130368004	130368004	+	Silent	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:130368004G>A	ENST00000358511.6	+	32	5362	c.5331G>A	c.(5329-5331)aaG>aaA	p.K1777K	COL6A6_ENST00000453409.2_Silent_p.K1777K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1777	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCGGATGAAGGAGATGATGG	0.567																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(5329-5331)aaG>aaA		collagen, type VI, alpha 6							44.0	46.0	45.0					3																	130368004		1973	4159	6132	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130368004G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5331G>A	3.37:g.130368004G>A						COL6A6_ENST00000453409.2_Silent_p.K1777K	p.K1777K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			32	5362	+			1777			Nonhelical region.|VWFA 8.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.5331G>A	CCDS46911.1																																																																																				0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		3	11	0	0	0	1	0	3	11				
SRGAP1	57522	broad.mit.edu	37	12	64536247	64536247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:64536247G>A	ENST00000355086.3	+	22	3577	c.3053G>A	c.(3052-3054)aGg>aAg	p.R1018K	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R955K|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R995K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1018					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTTGCCCTCAGGAGCTCCGAG	0.567																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(3052-3054)aGg>aAg		SLIT-ROBO Rho GTPase activating protein 1							131.0	102.0	112.0					12																	64536247		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64536247G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3053G>A	12.37:g.64536247G>A	ENSP00000347198:p.Arg1018Lys					SRGAP1_ENST00000543397.1_Missense_Mutation_p.R955K|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R995K	p.R1018K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3577	+			1018					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.3053G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	9.141	1.013932	0.19277	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.29655	1.56;1.56;1.56	6.04	5.16	0.70880	.	0.000000	0.36200	U	0.002732	T	0.22627	0.0546	L	0.32530	0.975	0.42066	D	0.991187	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.06391	-1.0829	9	.	.	.	.	11.4282	0.50022	0.137:0.0:0.863:0.0	.	1018;955	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	K	1018;995;955	ENSP00000347198:R1018K;ENSP00000350480:R995K;ENSP00000437948:R955K	.	R	+	2	0	SRGAP1	62822514	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	6.178000	0.71968	1.577000	0.49804	0.563000	0.77884	AGG		0.567	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			30	94	0	0	0	1	0	30	94				
MAP6	4135	broad.mit.edu	37	11	75379336	75379336	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:75379336G>T	ENST00000304771.3	-	1	829	c.79C>A	c.(79-81)Ccg>Acg	p.P27T	MAP6_ENST00000434603.2_Missense_Mutation_p.P27T|MAP6_ENST00000526740.1_Intron	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	27					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AAAACCAGCGGCACAGCGATG	0.701																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000434603.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(79-81)Ccg>Acg		microtubule-associated protein 6							29.0	32.0	31.0					11																	75379336		1995	4171	6166	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75379336G>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.79C>A	11.37:g.75379336G>T	ENSP00000307093:p.Pro27Thr					MAP6_ENST00000526740.1_Intron|MAP6_ENST00000304771.3_Missense_Mutation_p.P27T	p.P27T	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN			1	143	-	Ovarian(111;0.11)		27					A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.79C>A	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046018	0.75846	.	.	ENSG00000171533	ENST00000304771;ENST00000434603	T;T	0.20332	2.08;2.08	5.25	3.35	0.38373	.	0.000000	0.42548	D	0.000685	T	0.44603	0.1301	M	0.73962	2.25	0.49915	D	0.999838	D	0.76494	0.999	D	0.69479	0.964	T	0.45279	-0.9272	10	0.87932	D	0	-12.2966	13.6767	0.62458	0.0:0.2941:0.7059:0.0	.	27	Q96JE9	MAP6_HUMAN	T	27	ENSP00000307093:P27T;ENSP00000415108:P27T	ENSP00000307093:P27T	P	-	1	0	MAP6	75056984	1.000000	0.71417	0.935000	0.37517	0.930000	0.56654	7.167000	0.77562	0.574000	0.29417	0.561000	0.74099	CCG		0.701	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		11	57	1	0	3.07112e-06	1	3.31199e-06	11	57				
LRRTM1	347730	broad.mit.edu	37	2	80530401	80530401	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:80530401G>T	ENST00000295057.3	-	2	1200	c.544C>A	c.(544-546)Cag>Aag	p.Q182K	LRRTM1_ENST00000409148.1_Missense_Mutation_p.Q182K|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	182					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGCAGTCCTGGAAGATGCGC	0.612										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(544-546)Cag>Aag		leucine rich repeat transmembrane neuronal 1							59.0	63.0	62.0					2																	80530401		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530401G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.544C>A	2.37:g.80530401G>T	ENSP00000295057:p.Gln182Lys	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.Q182K|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.Q182K	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1200	-			182					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.544C>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919270	0.73098	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811	T;T;T;T	0.79554	-1.28;-1.28;4.32;4.32	4.43	4.43	0.53597	.	0.000000	0.85682	U	0.000000	T	0.77377	0.4121	N	0.20445	0.575	0.80722	D	1	P	0.48911	0.917	P	0.52343	0.696	T	0.76550	-0.2918	9	.	.	.	.	17.0159	0.86419	0.0:0.0:1.0:0.0	.	182	Q86UE6	LRRT1_HUMAN	K	182	ENSP00000295057:Q182K;ENSP00000386646:Q182K;ENSP00000415368:Q182K;ENSP00000389473:Q182K	.	Q	-	1	0	LRRTM1	80383912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	1.962000	0.57031	0.591000	0.81541	CAG		0.612	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		27	108	1	0	2.79863e-10	1	3.22919e-10	27	108				
DSP	1832	broad.mit.edu	37	6	7569505	7569505	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:7569505C>G	ENST00000379802.3	+	12	1847	c.1506C>G	c.(1504-1506)gaC>gaG	p.D502E	DSP_ENST00000418664.2_Missense_Mutation_p.D502E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	502	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGCGTTGACATGCTTGTTC	0.557																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1504-1506)gaC>gaG		desmoplakin							174.0	139.0	151.0					6																	7569505		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7569505C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1506C>G	6.37:g.7569505C>G	ENSP00000369129:p.Asp502Glu					DSP_ENST00000418664.2_Missense_Mutation_p.D502E	p.D502E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	12	1847	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	502			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1506C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672613	0.29693	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.71934	-0.61;-0.61	5.53	4.65	0.58169	.	0.000000	0.64402	D	0.000008	T	0.18593	0.0446	N	0.02357	-0.585	0.38806	D	0.955315	B;B	0.32302	0.363;0.363	B;B	0.24701	0.055;0.055	T	0.43572	-0.9383	10	0.02654	T	1	.	10.3715	0.44058	0.0:0.8356:0.0:0.1644	.	549;502	Q4LE79;P15924	.;DESP_HUMAN	E	502;502;307	ENSP00000369129:D502E;ENSP00000396591:D502E	ENSP00000369129:D502E	D	+	3	2	DSP	7514504	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.543000	0.36147	2.596000	0.87737	0.655000	0.94253	GAC		0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		28	115	0	0	0	1	0	28	115				
PCDHGC4	56098	broad.mit.edu	37	5	140865902	140865902	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:140865902C>T	ENST00000306593.1	+	1	1162	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	388	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAGCCTCCGCATTCCTGA	0.557																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1162-1164)Cgc>Tgc									120.0	97.0	105.0					5																	140865902		2203	4300	6503	SO:0001583	missense	56098							g.chr5:140865902C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1162C>T	5.37:g.140865902C>T	ENSP00000306918:p.Arg388Cys					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron	p.R388C	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1162	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.1162C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315457	0.40996	.	.	ENSG00000242419	ENST00000306593	T	0.01787	4.64	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.11110	0.0271	M	0.81497	2.545	0.41399	D	0.987669	D;D	0.71674	0.998;0.997	P;D	0.67725	0.898;0.953	T	0.00449	-1.1732	9	0.62326	D	0.03	.	18.1181	0.89563	0.0:1.0:0.0:0.0	.	388;388	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	C	388	ENSP00000306918:R388C	ENSP00000306918:R388C	R	+	1	0	PCDHGC4	140846086	0.000000	0.05858	0.989000	0.46669	0.682000	0.39822	-0.753000	0.04792	2.597000	0.87782	0.563000	0.77884	CGC		0.557	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		22	82	0	0	0	1	0	22	82				
F8	2157	broad.mit.edu	37	X	154194412	154194412	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:154194412A>G	ENST00000360256.4	-	9	1476	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	426	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGACTTTTATAACTTCTGTAT	0.358																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1276-1278)Tat>Cat		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						62.0	59.0	60.0					X																	154194412		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154194412A>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1276T>C	X.37:g.154194412A>G	ENSP00000353393:p.Tyr426His					F8_ENST00000483822.1_5'UTR	p.Y426H	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			9	1476	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		426			F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1276T>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777546	0.31411	.	.	ENSG00000185010	ENST00000360256	D	0.98732	-5.1	5.33	4.16	0.48862	Cupredoxin (2);	0.751183	0.13024	N	0.419846	D	0.95452	0.8523	L	0.33668	1.02	0.28230	N	0.926159	B	0.15473	0.013	B	0.12156	0.007	D	0.89885	0.4033	10	0.28530	T	0.3	-1.1492	4.3499	0.11150	0.728:0.0:0.0962:0.1757	.	426	P00451	FA8_HUMAN	H	426	ENSP00000353393:Y426H	ENSP00000353393:Y426H	Y	-	1	0	F8	153847606	0.661000	0.27430	0.994000	0.49952	0.936000	0.57629	1.221000	0.32503	0.675000	0.31264	0.430000	0.28490	TAT		0.358	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			22	22	0	0	0	1	0	22	22				
CRYBB1	1414	broad.mit.edu	37	22	26995540	26995540	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr22:26995540G>C	ENST00000215939.2	-	6	803	c.673C>G	c.(673-675)Cag>Gag	p.Q225E	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	225	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GACTGCATCTGTGGCTGGAAG	0.617																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(673-675)Cag>Gag		crystallin, beta B1							66.0	57.0	60.0					22																	26995540		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:26995540G>C		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.673C>G	22.37:g.26995540G>C	ENSP00000215939:p.Gln225Glu						p.Q225E	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			6	803	-			225			Beta/gamma crystallin 'Greek key' 4.			Missense_Mutation	SNP	ENST00000215939.2	37	c.673C>G	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638442	0.87760	.	.	ENSG00000100122	ENST00000215939	T	0.75704	-0.96	4.21	4.21	0.49690	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.058747	0.64402	D	0.000001	D	0.84179	0.5415	M	0.69523	2.12	0.58432	D	0.999999	D	0.63880	0.993	D	0.65443	0.935	D	0.86489	0.1796	10	0.72032	D	0.01	.	16.0839	0.81025	0.0:0.0:1.0:0.0	.	225	P53674	CRBB1_HUMAN	E	225	ENSP00000215939:Q225E	ENSP00000215939:Q225E	Q	-	1	0	CRYBB1	25325540	1.000000	0.71417	0.983000	0.44433	0.970000	0.65996	7.136000	0.77285	2.346000	0.79739	0.557000	0.71058	CAG		0.617	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		28	93	0	0	0	1	0	28	93				
ADAMTS8	11095	broad.mit.edu	37	11	130278481	130278481	+	Silent	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:130278481G>A	ENST00000257359.6	-	8	2683	c.1977C>T	c.(1975-1977)ggC>ggT	p.G659G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	659	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGACACACTGGCCACGGACAC	0.602																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1975-1977)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 8							55.0	62.0	60.0					11																	130278481		2104	4198	6302	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130278481G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1977C>T	11.37:g.130278481G>A							p.G659G	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	8	2683	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	659			Cys-rich.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.1977C>T	CCDS41732.1																																																																																				0.602	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		10	149	0	0	0	1	0	10	149				
DLC1	10395	broad.mit.edu	37	8	12957810	12957810	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:12957810G>C	ENST00000276297.4	-	9	2445	c.2036C>G	c.(2035-2037)tCc>tGc	p.S679C	DLC1_ENST00000520226.1_Missense_Mutation_p.S168C|DLC1_ENST00000512044.2_Missense_Mutation_p.S276C|DLC1_ENST00000358919.2_Missense_Mutation_p.S242C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	679					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGTGATGGGAGCTCTTGAG	0.547																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2035-2037)tCc>tGc		deleted in liver cancer 1							117.0	107.0	111.0					8																	12957810		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957810G>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2036C>G	8.37:g.12957810G>C	ENSP00000276297:p.Ser679Cys					DLC1_ENST00000520226.1_Missense_Mutation_p.S168C|DLC1_ENST00000358919.2_Missense_Mutation_p.S242C|DLC1_ENST00000512044.2_Missense_Mutation_p.S276C	p.S679C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2445	-			679					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2036C>G	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261634	0.59431	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06933	3.49;3.25;3.25;3.24	4.84	3.97	0.46021	.	0.312148	0.36555	N	0.002533	T	0.21801	0.0525	M	0.71581	2.175	0.80722	D	1	P;D;D	0.60575	0.633;0.983;0.988	B;P;P	0.56514	0.169;0.682;0.8	T	0.01652	-1.1303	10	0.66056	D	0.02	.	13.6775	0.62462	0.0745:0.0:0.9254:0.0	.	679;276;242	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	679;242;276;168	ENSP00000276297:S679C;ENSP00000351797:S242C;ENSP00000422595:S276C;ENSP00000428028:S168C	ENSP00000276297:S679C	S	-	2	0	DLC1	13002181	1.000000	0.71417	0.935000	0.37517	0.929000	0.56500	7.660000	0.83776	1.407000	0.46875	0.655000	0.94253	TCC		0.547	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		31	149	0	0	0	1	0	31	149				
KIF21A	55605	broad.mit.edu	37	12	39716680	39716680	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:39716680C>G	ENST00000361418.5	-	27	3476	c.3461G>C	c.(3460-3462)cGa>cCa	p.R1154P	KIF21A_ENST00000395670.3_Missense_Mutation_p.R1154P|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1118P|KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000544797.2_Missense_Mutation_p.R1134P|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1141P			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1154					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1141Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGTTCTCCTTCGGGCCTAGTC	0.438																																						ENST00000395670.3																			1	Substitution - Missense(1)	p.R1141Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3460-3462)cGa>cCa		kinesin family member 21A							123.0	117.0	119.0					12																	39716680		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39716680C>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3461G>C	12.37:g.39716680C>G	ENSP00000354878:p.Arg1154Pro					KIF21A_ENST00000544797.2_Missense_Mutation_p.R1134P|KIF21A_ENST00000361418.5_Missense_Mutation_p.R1154P|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1118P|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1141P	p.R1154P			Q7Z4S6	KI21A_HUMAN			26	3880	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1154					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3461G>C	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.894175|4.894175	0.91889|0.91889	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.73681	.|-0.7;-0.69;-0.15;-0.77;-0.61;-0.66	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.158511	.|0.29730	.|N	.|0.011353	D|D	0.86247|0.86247	0.5887|0.5887	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D;D	.|0.76494	.|0.992;0.999;0.872;0.963;0.989;0.991	.|P;D;P;P;P;D	.|0.85130	.|0.774;0.997;0.447;0.619;0.842;0.918	D|D	0.87440|0.87440	0.2394|0.2394	5|10	.|0.87932	.|D	.|0	.|.	19.0969|19.0969	0.93255|0.93255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1134;1118;1154;1141;1154;201	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	Q|P	502|1141;1154;1154;201;195;1134;1154;1118	.|ENSP00000354851:R1141P;ENSP00000379029:R1154P;ENSP00000448792:R195P;ENSP00000445606:R1134P;ENSP00000354878:R1154P;ENSP00000438075:R1118P	.|ENSP00000344501:R1154P	E|R	-|-	1|2	0|0	KIF21A|KIF21A	38002947|38002947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.332000|7.332000	0.79203|0.79203	2.496000|2.496000	0.84212|0.84212	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.438	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		21	90	0	0	0	1	0	21	90				
SLC35E3	55508	broad.mit.edu	37	12	69145934	69145934	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:69145934A>T	ENST00000398004.2	+	3	908	c.636A>T	c.(634-636)gaA>gaT	p.E212D	SLC35E3_ENST00000538043.1_3'UTR	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	212						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGTTTGGAGAAGGAGGAATAT	0.403																																						ENST00000398004.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(634-636)gaA>gaT		solute carrier family 35, member E3							251.0	236.0	241.0					12																	69145934		1963	4157	6120	SO:0001583	missense	55508					integral to membrane		g.chr12:69145934A>T	AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.636A>T	12.37:g.69145934A>T	ENSP00000381089:p.Glu212Asp					SLC35E3_ENST00000538043.1_3'UTR	p.E212D	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)		3	908	+	Breast(13;2.31e-06)|Renal(347;0.0684)		212					A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	ENST00000398004.2	37	c.636A>T	CCDS41808.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896230	0.72639	.	.	ENSG00000175782	ENST00000398004;ENST00000431174	T;T	0.63580	-0.05;1.42	5.59	4.48	0.54585	Domain of unknown function DUF250 (1);	0.145791	0.64402	D	0.000008	T	0.41766	0.1173	N	0.16903	0.455	0.45962	D	0.99878	B	0.06786	0.001	B	0.13407	0.009	T	0.19095	-1.0316	9	.	.	.	-13.253	8.6556	0.34062	0.9022:0.0:0.0978:0.0	.	212	Q7Z769	S35E3_HUMAN	D	212;22	ENSP00000381089:E212D;ENSP00000403769:E22D	.	E	+	3	2	SLC35E3	67432201	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.645000	0.37238	1.135000	0.42183	0.454000	0.30748	GAA		0.403	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		48	193	0	0	0	1	0	48	193				
ROCK2	9475	broad.mit.edu	37	2	11332404	11332404	+	Missense_Mutation	SNP	C	C	T	rs374395637		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:11332404C>T	ENST00000315872.6	-	32	4481	c.4033G>A	c.(4033-4035)Gtg>Atg	p.V1345M	ROCK2_ENST00000401753.1_Missense_Mutation_p.V1102M	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1345	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATCTTTTTCACCAACCGACTA	0.393																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(4033-4035)Gtg>Atg		Rho-associated, coiled-coil containing protein kinase 2		C	MET/VAL	1,3613		0,1,1806	179.0	170.0	172.0		4033	5.5	1.0	2		172	0,8136		0,0,4068	no	missense	ROCK2	NM_004850.3	21	0,1,5874	TT,TC,CC		0.0,0.0277,0.0085	benign	1345/1389	11332404	1,11749	1807	4068	5875	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11332404C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.4033G>A	2.37:g.11332404C>T	ENSP00000317985:p.Val1345Met					ROCK2_ENST00000401753.1_Missense_Mutation_p.V1102M	p.V1345M	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	32	4481	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1345			PH.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.4033G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198429	0.38806	2.77E-4	0.0	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.75050	-0.9;-0.9	5.46	5.46	0.80206	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.061949	0.64402	D	0.000004	T	0.67988	0.2952	L	0.31294	0.92	0.34856	D	0.742115	B	0.22211	0.066	B	0.25506	0.061	T	0.70110	-0.4962	10	0.48119	T	0.1	.	19.6691	0.95903	0.0:1.0:0.0:0.0	.	1345	O75116	ROCK2_HUMAN	M	1345;1102;703	ENSP00000317985:V1345M;ENSP00000385509:V1102M	ENSP00000317985:V1345M	V	-	1	0	ROCK2	11249855	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.495000	0.45337	2.721000	0.93114	0.591000	0.81541	GTG		0.393	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			8	180	0	0	0	1	0	8	180				
PPIG	9360	broad.mit.edu	37	2	170493868	170493868	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:170493868A>C	ENST00000260970.3	+	14	2320	c.2100A>C	c.(2098-2100)gaA>gaC	p.E700D	PPIG_ENST00000448752.2_Missense_Mutation_p.E700D|PPIG_ENST00000409714.3_Missense_Mutation_p.E685D	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	700					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGGACAATGAATTAAAGTCCT	0.353																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2098-2100)gaA>gaC		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						40.0	41.0	40.0					2																	170493868		2202	4297	6499	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493868A>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2100A>C	2.37:g.170493868A>C	ENSP00000260970:p.Glu700Asp					PPIG_ENST00000448752.2_Missense_Mutation_p.E700D|PPIG_ENST00000409714.3_Missense_Mutation_p.E685D	p.E700D	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2320	+			700					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2100A>C	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833418	0.50951	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.20598	2.07;2.06;2.07	5.63	4.49	0.54785	.	0.084799	0.50627	N	0.000105	T	0.29976	0.0750	L	0.27053	0.805	0.29052	N	0.88446	D;P;P	0.56521	0.976;0.956;0.93	P;D;P	0.65010	0.584;0.931;0.584	T	0.08953	-1.0697	10	0.87932	D	0	-19.2511	11.2817	0.49199	0.9288:0.0:0.0712:0.0	.	685;685;700	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	D	700;685;700	ENSP00000260970:E700D;ENSP00000386245:E685D;ENSP00000407083:E700D	ENSP00000260970:E700D	E	+	3	2	PPIG	170202114	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	1.708000	0.37899	0.983000	0.38602	0.482000	0.46254	GAA		0.353	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			8	30	0	0	0	1	0	8	30				
SLC4A8	9498	broad.mit.edu	37	12	51865171	51865171	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:51865171T>C	ENST00000453097.2	+	14	1976	c.1759T>C	c.(1759-1761)Tgc>Cgc	p.C587R	SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Missense_Mutation_p.C534R|SLC4A8_ENST00000394856.1_Missense_Mutation_p.C534R|SLC4A8_ENST00000514353.3_Missense_Mutation_p.C534R|SLC4A8_ENST00000358657.3_Missense_Mutation_p.C614R	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)		TTCCCTTGTCTGCTACATTAC	0.443																																						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.(1759-1761)Tgc>Cgc		solute carrier family 4, sodium bicarbonate cotransporter, member 8							260.0	216.0	231.0					12																	51865171		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51865171T>C	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.1759T>C	12.37:g.51865171T>C	ENSP00000405812:p.Cys587Arg					SLC4A8_ENST00000535225.2_Missense_Mutation_p.C534R|SLC4A8_ENST00000514353.3_Missense_Mutation_p.C534R|SLC4A8_ENST00000394856.1_Missense_Mutation_p.C534R|SLC4A8_ENST00000358657.3_Missense_Mutation_p.C614R|SLC4A8_ENST00000546663.1_3'UTR	p.C587R	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	14	1976	+			587						Missense_Mutation	SNP	ENST00000453097.2	37	c.1759T>C	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839497	0.32513	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.33	5.33	0.75918	Bicarbonate transporter, C-terminal (1);	0.085964	0.85682	D	0.000000	T	0.76147	0.3947	L	0.28649	0.875	0.80722	D	1	D;B;D;D;B;D	0.76494	0.999;0.002;0.993;0.972;0.034;0.979	D;B;D;D;B;D	0.87578	0.998;0.004;0.915;0.976;0.152;0.929	T	0.70350	-0.4896	10	0.07644	T	0.81	.	14.5815	0.68295	0.0:0.0:0.0:1.0	.	534;614;534;587;587;587	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	R	534;614;587;534;587;534;534	ENSP00000441520:C534R;ENSP00000351483:C614R;ENSP00000405812:C587R;ENSP00000378325:C534R;ENSP00000442561:C534R	ENSP00000315789:C587R	C	+	1	0	SLC4A8	50151438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.170000	0.64990	2.147000	0.66899	0.460000	0.39030	TGC		0.443	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		37	159	0	0	0	1	0	37	159				
SAMD4A	23034	broad.mit.edu	37	14	55169180	55169180	+	Silent	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:55169180C>T	ENST00000554335.1	+	3	1260	c.597C>T	c.(595-597)tgC>tgT	p.C199C	SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000251091.5_Silent_p.C199C|SAMD4A_ENST00000357634.3_Silent_p.C198C|SAMD4A_ENST00000392067.3_Silent_p.C199C			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	199					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTGGGATTTGCATCAATGCCT	0.498																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(595-597)tgC>tgT		sterile alpha motif domain containing 4A							86.0	72.0	77.0					14																	55169180		2203	4300	6503	SO:0001819	synonymous_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55169180C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.597C>T	14.37:g.55169180C>T						SAMD4A_ENST00000392067.3_Silent_p.C199C|SAMD4A_ENST00000357634.3_Silent_p.C198C|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000554335.1_Silent_p.C199C	p.C199C	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			2	902	+			199					A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	c.597C>T	CCDS32084.2																																																																																				0.498	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		47	82	0	0	0	1	0	47	82				
SARAF	51669	broad.mit.edu	37	8	29923609	29923609	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:29923609G>C	ENST00000256255.6	-	5	1146	c.889C>G	c.(889-891)Ccc>Gcc	p.P297A	TMEM66_ENST00000536273.1_Missense_Mutation_p.P125A|TMEM66_ENST00000545648.1_Missense_Mutation_p.P125A	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		297					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GGGTAGGAGGGAGGATAGGAC	0.478																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(889-891)Ccc>Gcc		transmembrane protein 66							128.0	123.0	124.0					8																	29923609		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29923609G>C																												ENST00000256255.6:c.889C>G	8.37:g.29923609G>C	ENSP00000256255:p.Pro297Ala					TMEM66_ENST00000545648.1_Missense_Mutation_p.P125A|TMEM66_ENST00000536273.1_Missense_Mutation_p.P125A	p.P297A	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	5	1146	-			297					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.889C>G	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.31|13.31	2.199348|2.199348	0.38806|0.38806	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273|ENST00000518296	T;T;T|.	0.39787|.	1.06;1.06;1.06|.	5.68|5.68	-1.68|-1.68	0.08212|0.08212	.|.	0.393795|.	0.28262|.	N|.	0.015985|.	T|T	0.43700|0.43700	0.1259|0.1259	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.006|.	B;B|.	0.15484|.	0.013;0.013|.	T|T	0.42275|0.42275	-0.9461|-0.9461	10|5	0.09843|.	T|.	0.71|.	-13.7547|-13.7547	5.4809|5.4809	0.16723|0.16723	0.3492:0.2347:0.4161:0.0|0.3492:0.2347:0.4161:0.0	.|.	297;297|.	B3KQQ4;Q96BY9|.	.;TMM66_HUMAN|.	A|C	297;125;261;125|166	ENSP00000256255:P297A;ENSP00000441351:P125A;ENSP00000441723:P125A|.	ENSP00000256255:P297A|.	P|S	-|-	1|2	0|0	TMEM66|TMEM66	30043151|30043151	0.019000|0.019000	0.18553|0.18553	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-0.197000|-0.197000	0.09518|0.09518	-0.729000|-0.729000	0.04875|0.04875	-0.195000|-0.195000	0.12781|0.12781	CCC|TCC		0.478	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			26	170	0	0	0	1	0	26	170				
PSME4	23198	broad.mit.edu	37	2	54176347	54176347	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:54176347C>A	ENST00000404125.1	-	2	371	c.316G>T	c.(316-318)Gta>Tta	p.V106L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	106					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAATTGATACCAGCTCATAC	0.338																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(316-318)Gta>Tta		proteasome (prosome, macropain) activator subunit 4							80.0	79.0	79.0					2																	54176347		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54176347C>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.316G>T	2.37:g.54176347C>A	ENSP00000384211:p.Val106Leu					PSME4_ENST00000421748.2_Intron	p.V106L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	371	-			106					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.316G>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877985	0.51801	.	.	ENSG00000068878	ENST00000404125	T	0.02863	4.13	5.1	5.1	0.69264	.	0.000000	0.64402	U	0.000002	T	0.02156	0.0067	N	0.16903	0.455	0.80722	D	1	B	0.30021	0.265	B	0.20577	0.03	T	0.42464	-0.9450	10	0.02654	T	1	.	18.8879	0.92387	0.0:1.0:0.0:0.0	.	106	Q14997	PSME4_HUMAN	L	106	ENSP00000384211:V106L	ENSP00000374643:V106L	V	-	1	0	PSME4	54029851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.043000	0.71004	2.509000	0.84616	0.655000	0.94253	GTA		0.338	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		14	55	1	0	0.000151284	1	0.000158993	14	55				
XIRP1	165904	broad.mit.edu	37	3	39230516	39230516	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:39230516G>T	ENST00000340369.3	-	2	649	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.Q141K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	141					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTGGCTCCTGGTCTGTGCTG	0.617																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(421-423)Cag>Aag		xin actin-binding repeat containing 1							64.0	64.0	64.0					3																	39230516		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39230516G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.421C>A	3.37:g.39230516G>T	ENSP00000343140:p.Gln141Lys					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.Q141K	p.Q141K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	649	-			141					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.421C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	2.435	-0.329897	0.05314	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04654	3.58;3.97	4.75	4.75	0.60458	.	1.470840	0.04492	N	0.379736	T	0.05731	0.0150	L	0.29908	0.895	0.80722	D	1	B;B	0.26195	0.144;0.063	B;B	0.20577	0.022;0.03	T	0.46219	-0.9207	10	0.07482	T	0.82	.	15.6463	0.77055	0.0:0.0:1.0:0.0	.	141;141	Q702N8;Q702N8-2	XIRP1_HUMAN;.	K	141	ENSP00000379550:Q141K;ENSP00000343140:Q141K	ENSP00000343140:Q141K	Q	-	1	0	XIRP1	39205520	0.674000	0.27549	0.004000	0.12327	0.945000	0.59286	3.947000	0.56652	2.362000	0.80069	0.655000	0.94253	CAG		0.617	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		15	80	1	0	6.31663e-08	1	7.04219e-08	15	80				
EEF2K	29904	broad.mit.edu	37	16	22269984	22269984	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:22269984C>T	ENST00000263026.5	+	10	1673	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	400					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCATCTTCGGCCACACCACAC	0.592																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(1198-1200)gCc>gTc		eukaryotic elongation factor-2 kinase							146.0	128.0	134.0					16																	22269984		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22269984C>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1199C>T	16.37:g.22269984C>T	ENSP00000263026:p.Ala400Val						p.A400V	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	10	1673	+			400					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1199C>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274203	0.40194	.	.	ENSG00000103319	ENST00000263026	T	0.37752	1.18	5.65	4.51	0.55191	.	0.504398	0.22724	N	0.056406	T	0.21186	0.0510	N	0.14661	0.345	0.37235	D	0.905843	B	0.06786	0.001	B	0.09377	0.004	T	0.10291	-1.0636	10	0.23302	T	0.38	-15.5699	11.9158	0.52765	0.0:0.8517:0.0:0.1483	.	400	O00418	EF2K_HUMAN	V	400	ENSP00000263026:A400V	ENSP00000263026:A400V	A	+	2	0	EEF2K	22177485	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.534000	0.53568	2.681000	0.91329	0.563000	0.77884	GCC		0.592	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		19	138	0	0	0	1	0	19	138				
CD40	958	broad.mit.edu	37	20	44751275	44751275	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr20:44751275G>A	ENST00000372285.3	+	4	355	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.G95S	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	95					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CCAGCAGAAGGGCACCTCAGA	0.607									Immune Deficiency with Hyper-IgM																													ENST00000372285.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(283-285)Ggc>Agc		CD40 molecule, TNF receptor superfamily member 5	Simvastatin(DB00641)						109.0	96.0	100.0					20																	44751275		2203	4300	6503	SO:0001583	missense	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44751275G>A	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.283G>A	20.37:g.44751275G>A	ENSP00000361359:p.Gly95Ser					CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.G95S	p.G95S	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN			4	355	+		Myeloproliferative disorder(115;0.0122)	95					E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.283G>A	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.282505	0.80692	.	.	ENSG00000101017	ENST00000372285;ENST00000372276	T;T	0.81078	-0.82;-1.45	3.89	3.89	0.44902	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.817650	0.11293	N	0.579031	D	0.88738	0.6518	M	0.82193	2.58	0.40288	D	0.978478	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.97110	0.929;1.0;0.999;0.999	D	0.84595	0.0669	10	0.17369	T	0.5	-24.7606	11.5408	0.50665	0.0:0.0:1.0:0.0	.	78;95;95;95	Q09LL4;P25942-2;P25942;Q6P2H9	.;.;TNR5_HUMAN;.	S	95	ENSP00000361359:G95S;ENSP00000361350:G95S	ENSP00000361350:G95S	G	+	1	0	CD40	44184682	0.994000	0.37717	0.768000	0.31515	0.264000	0.26372	4.582000	0.60957	2.183000	0.69458	0.447000	0.29281	GGC		0.607	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		16	92	0	0	0	1	0	16	92				
TROVE2	6738	broad.mit.edu	37	1	193045125	193045125	+	Silent	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:193045125A>G	ENST00000367446.3	+	3	966	c.756A>G	c.(754-756)agA>agG	p.R252R	TROVE2_ENST00000432079.1_5'UTR|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367443.1_Silent_p.R252R|TROVE2_ENST00000400968.2_Silent_p.R252R|TROVE2_ENST00000367445.3_Silent_p.R252R|TROVE2_ENST00000367444.3_Silent_p.R252R|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367441.1_Silent_p.R252R	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	252	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AAGAACATAGATTAGTTAGAG	0.333																																						ENST00000367446.3																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(754-756)agA>agG		TROVE domain family, member 2							60.0	60.0	60.0					1																	193045125		1831	4087	5918	SO:0001819	synonymous_variant	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193045125A>G	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.756A>G	1.37:g.193045125A>G						TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000432079.1_5'UTR|TROVE2_ENST00000367443.1_Silent_p.R252R|TROVE2_ENST00000367444.3_Silent_p.R252R|TROVE2_ENST00000400968.2_Silent_p.R252R|TROVE2_ENST00000367445.3_Silent_p.R252R|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367441.1_Silent_p.R252R	p.R252R	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN			3	966	+			252			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	ENST00000367446.3	37	c.756A>G	CCDS1379.1																																																																																				0.333	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		10	37	0	0	0	1	0	10	37				
PCSK5	5125	broad.mit.edu	37	9	78973658	78973658	+	Silent	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:78973658C>T	ENST00000545128.1	+	37	5941	c.5403C>T	c.(5401-5403)agC>agT	p.S1801S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1801					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGAGCACCAGCTTTGAAGAGG	0.522																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(5401-5403)agC>agT		proprotein convertase subtilisin/kexin type 5							290.0	259.0	269.0					9																	78973658		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78973658C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5403C>T	9.37:g.78973658C>T							p.S1801S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			37	5941	+			618					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.5403C>T	CCDS55320.1																																																																																				0.522	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				49	178	0	0	0	1	0	49	178				
MYOM1	8736	broad.mit.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T	rs200770047		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:3188882C>T	ENST00000356443.4	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K|MYOM1_ENST00000400569.3_Missense_Mutation_p.R212K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517																																						ENST00000400569.3																			1	Substitution - Missense(1)	p.R212K(1)	endometrium(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(634-636)aGg>aAg		myomesin 1							260.0	242.0	248.0					18																	3188882		2044	4187	6231	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188882C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.635G>A	18.37:g.3188882C>T	ENSP00000348821:p.Arg212Lys					MYOM1_ENST00000356443.4_Missense_Mutation_p.R212K|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K	p.R212K			P52179	MYOM1_HUMAN			4	968	-			212			6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.635G>A	CCDS45824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.966	-0.213546	0.06140	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.45668	1.03;1.04;0.89	3.23	0.752	0.18398	.	0.084010	0.41097	N	0.000942	T	0.14830	0.0358	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28808	-1.0032	10	0.05351	T	0.99	.	4.9448	0.13984	0.0:0.2653:0.0:0.7347	.	212;212	P52179-2;P52179	.;MYOM1_HUMAN	K	212	ENSP00000348821:R212K;ENSP00000383413:R212K;ENSP00000261606:R212K	ENSP00000261606:R212K	R	-	2	0	MYOM1	3178882	0.789000	0.28775	0.018000	0.16275	0.000000	0.00434	1.455000	0.35190	0.165000	0.19558	-1.097000	0.02148	AGG		0.517	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	129	0	0	0	1	0	5	129				
PRX	57716	broad.mit.edu	37	19	40899910	40899910	+	Missense_Mutation	SNP	G	G	T	rs369949312		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:40899910G>T	ENST00000324001.7	-	7	4619	c.4349C>A	c.(4348-4350)cCg>cAg	p.P1450Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1450					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATCCTGGCCGGGCCTGGAGC	0.647																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4348-4350)cCg>cAg		periaxin							34.0	42.0	39.0					19																	40899910		2202	4298	6500	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40899910G>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4349C>A	19.37:g.40899910G>T	ENSP00000326018:p.Pro1450Gln					PRX_ENST00000291825.7_3'UTR	p.P1450Q	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4619	-			1450					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.4349C>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610750	0.28712	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01981	4.52	4.66	4.66	0.58398	.	0.289550	0.25063	N	0.033421	T	0.02649	0.0080	N	0.14661	0.345	0.41093	D	0.985615	D	0.53151	0.958	P	0.50490	0.642	T	0.60337	-0.7283	10	0.59425	D	0.04	-12.1936	8.6453	0.34003	0.1023:0.0:0.8977:0.0	.	1450	Q9BXM0	PRAX_HUMAN	Q	1450;1385	ENSP00000326018:P1450Q	ENSP00000326018:P1450Q	P	-	2	0	PRX	45591750	0.527000	0.26306	0.896000	0.35187	0.151000	0.21798	1.463000	0.35277	2.415000	0.81967	0.655000	0.94253	CCG		0.647	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		22	102	1	0	1.50039e-11	1	1.75578e-11	22	102				
HIVEP2	3097	broad.mit.edu	37	6	143090948	143090948	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:143090948G>C	ENST00000367604.1	-	4	5567	c.4928C>G	c.(4927-4929)aCa>aGa	p.T1643R	HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1643R|HIVEP2_ENST00000367603.2_Missense_Mutation_p.T1643R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGTAGTTGTTGTCCGCAGACT	0.493																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(4927-4929)aCa>aGa		human immunodeficiency virus type I enhancer binding protein 2							63.0	66.0	65.0					6																	143090948		2026	4185	6211	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143090948G>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4928C>G	6.37:g.143090948G>C	ENSP00000356576:p.Thr1643Arg					HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1643R|HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1643R	p.T1643R	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	5670	-			1643					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4928C>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079851	0.76528	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.05199	3.48;3.48;3.48	5.95	5.95	0.96441	.	0.042665	0.85682	D	0.000000	T	0.23451	0.0567	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.01557	-1.1325	10	0.87932	D	0	-21.0454	20.3697	0.98890	0.0:0.0:1.0:0.0	.	1643	P31629	ZEP2_HUMAN	R	1643	ENSP00000356576:T1643R;ENSP00000356575:T1643R;ENSP00000012134:T1643R	ENSP00000012134:T1643R	T	-	2	0	HIVEP2	143132641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.785000	0.99042	2.811000	0.96726	0.655000	0.94253	ACA		0.493	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			27	89	0	0	0	1	0	27	89				
OR52J3	119679	broad.mit.edu	37	11	5067988	5067988	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:5067988C>A	ENST00000380370.1	+	1	233	c.233C>A	c.(232-234)aCc>aAc	p.T78N		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTCTACAACCTCTGTGCCT	0.498																																						ENST00000380370.1																			0				NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(232-234)aCc>aAc		olfactory receptor, family 52, subfamily J, member 3							131.0	112.0	118.0					11																	5067988		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5067988C>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.233C>A	11.37:g.5067988C>A	ENSP00000369728:p.Thr78Asn						p.T78N	NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	233	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	78					Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.233C>A	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.510875	0.44660	.	.	ENSG00000205495	ENST00000380370	T	0.00441	7.41	4.19	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.147357	0.30519	N	0.009445	T	0.00468	0.0015	L	0.54323	1.7	0.09310	N	1	P	0.41848	0.763	P	0.49597	0.616	T	0.45702	-0.9243	10	0.87932	D	0	.	4.9295	0.13910	0.1665:0.6453:0.0:0.1882	.	78	Q8NH60	O52J3_HUMAN	N	78	ENSP00000369728:T78N	ENSP00000369728:T78N	T	+	2	0	OR52J3	5024564	0.000000	0.05858	0.998000	0.56505	0.929000	0.56500	0.647000	0.24812	0.962000	0.38057	0.655000	0.94253	ACC		0.498	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		18	57	1	0	5.3912e-06	1	5.77629e-06	18	57				
AMZ2	51321	broad.mit.edu	37	17	66247027	66247027	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:66247027C>A	ENST00000359904.3	+	3	1508	c.376C>A	c.(376-378)Ctc>Atc	p.L126I	AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000392720.2_Missense_Mutation_p.L126I|AMZ2_ENST00000580753.1_Missense_Mutation_p.L126I|AMZ2_ENST00000577985.1_Missense_Mutation_p.L126I|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000577866.1_Missense_Mutation_p.L126I|AMZ2_ENST00000577273.1_Missense_Mutation_p.L126I|RP11-147L13.2_ENST00000577698.1_RNA	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	126							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGAGTAAAACTCCTAGAACC	0.383																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(376-378)Ctc>Atc		archaelysin family metallopeptidase 2							58.0	60.0	59.0					17																	66247027		2203	4300	6503	SO:0001583	missense	51321						metallopeptidase activity|zinc ion binding	g.chr17:66247027C>A	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.376C>A	17.37:g.66247027C>A	ENSP00000352976:p.Leu126Ile					AMZ2_ENST00000392720.2_Missense_Mutation_p.L126I|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000580753.1_Missense_Mutation_p.L126I|AMZ2_ENST00000577985.1_Missense_Mutation_p.L126I|AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000577273.1_Missense_Mutation_p.L126I|AMZ2_ENST00000577866.1_Missense_Mutation_p.L126I	p.L126I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1508	+	all_cancers(12;1.12e-09)		126					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	c.376C>A	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874906	0.17395	.	.	ENSG00000196704	ENST00000359904;ENST00000392720	T;T	0.35236	1.32;1.32	3.08	0.731	0.18277	.	0.215418	0.29273	N	0.012623	T	0.20618	0.0496	L	0.43152	1.355	0.24101	N	0.995873	B	0.21071	0.051	B	0.12156	0.007	T	0.12451	-1.0547	10	0.11485	T	0.65	-26.2513	3.1492	0.06481	0.3941:0.4522:0.0:0.1537	.	126	Q86W34	AMZ2_HUMAN	I	126	ENSP00000352976:L126I;ENSP00000376481:L126I	ENSP00000352976:L126I	L	+	1	0	AMZ2	63758622	1.000000	0.71417	0.991000	0.47740	0.928000	0.56348	0.910000	0.28571	0.597000	0.29811	0.306000	0.20318	CTC		0.383	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		5	42	1	0	0.000602214	1	0.000621034	5	42				
FLRT3	23767	broad.mit.edu	37	20	14306847	14306847	+	Silent	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr20:14306847A>G	ENST00000378053.3	-	2	1562	c.1306T>C	c.(1306-1308)Ttg>Ctg	p.L436L	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L436L|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	436	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGAGTCTCAAAGCAGTCATA	0.448																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1306-1308)Ttg>Ctg		fibronectin leucine rich transmembrane protein 3							90.0	88.0	89.0					20																	14306847		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306847A>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1306T>C	20.37:g.14306847A>G						MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L436L	p.L436L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	1562	-		Colorectal(1;0.0464)	436			Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.1306T>C	CCDS13121.1																																																																																				0.448	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		33	138	0	0	0	1	0	33	138				
TPPP3	51673	broad.mit.edu	37	16	67424190	67424190	+	Missense_Mutation	SNP	C	C	T	rs368634690		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:67424190C>T	ENST00000564104.1	-	3	1259	c.418G>A	c.(418-420)Gat>Aat	p.D140N	TPPP3_ENST00000393957.2_Missense_Mutation_p.D140N|TPPP3_ENST00000290942.5_Missense_Mutation_p.D140N|TPPP3_ENST00000562206.1_Missense_Mutation_p.D140N|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	140					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CCGCTCTCATCGAAGCGCTCC	0.592																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(418-420)Gat>Aat		tubulin polymerization-promoting protein family member 3		C	ASN/ASP,ASN/ASP	1,4395	2.1+/-5.4	0,1,2197	148.0	124.0	132.0		418,418	4.2	0.8	16		132	0,8600		0,0,4300	no	missense,missense	TPPP3	NM_015964.2,NM_016140.2	23,23	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	140/177,140/177	67424190	1,12995	2198	4300	6498	SO:0001583	missense	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424190C>T	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.418G>A	16.37:g.67424190C>T	ENSP00000462435:p.Asp140Asn					TPPP3_ENST00000393957.2_Missense_Mutation_p.D140N|TPPP3_ENST00000290942.5_Missense_Mutation_p.D140N|TPPP3_ENST00000562206.1_Missense_Mutation_p.D140N	p.D140N			Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	3	1259	-		Ovarian(137;0.0563)	140					Q49AH9|Q9Y326|Q9Y6H0	Missense_Mutation	SNP	ENST00000564104.1	37	c.418G>A	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.584031	0.86748	2.27E-4	0.0	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.55234	0.53;0.53	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82458	-0.0447	10	0.59425	D	0.04	-15.9082	15.6513	0.77095	0.0:1.0:0.0:0.0	.	140	Q9BW30	TPPP3_HUMAN	N	140	ENSP00000377529:D140N;ENSP00000290942:D140N	ENSP00000290942:D140N	D	-	1	0	TPPP3	65981691	1.000000	0.71417	0.838000	0.33150	0.597000	0.36814	7.603000	0.82811	2.135000	0.66039	0.556000	0.70494	GAT		0.592	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		33	262	0	0	0	1	0	33	262				
KANSL1	284058	broad.mit.edu	37	17	44127899	44127899	+	Splice_Site	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:44127899C>T	ENST00000262419.6	-	7	2490	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	KANSL1_ENST00000575318.1_Splice_Site_p.D674N|KANSL1_ENST00000572904.1_Splice_Site_p.D674N|KANSL1_ENST00000432791.1_Splice_Site_p.D674N|KANSL1_ENST00000393476.3_Splice_Site_p.D31N|KANSL1_ENST00000574590.1_Splice_Site_p.D674N	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	674					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TCTTTCTTACCATCTGGAAAT	0.428																																						ENST00000262419.6																			0											c.e7+1		KAT8 regulatory NSL complex subunit 1							62.0	53.0	56.0					17																	44127899		2203	4300	6503	SO:0001630	splice_region_variant	284058					MLL1 complex	protein binding	g.chr17:44127899C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2020+1G>A	17.37:g.44127899C>T						KANSL1_ENST00000432791.1_Splice_Site_p.D674_splice|KANSL1_ENST00000393476.3_Splice_Site_p.D31_splice|KANSL1_ENST00000575318.1_Splice_Site_p.D674_splice|KANSL1_ENST00000574590.1_Splice_Site_p.D674_splice|KANSL1_ENST00000572904.1_Splice_Site_p.D674_splice	p.D674_splice	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			7	2490	-			674					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Splice_Site	SNP	ENST00000262419.6	37	c.2020_splice	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077261	0.94000	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.36520	1.78;1.78;1.25	5.32	5.32	0.75619	.	0.047072	0.85682	D	0.000000	T	0.57154	0.2034	M	0.69358	2.11	0.42295	D	0.992156	D;D	0.89917	0.996;1.0	D;D	0.81914	0.99;0.995	T	0.55256	-0.8169	9	.	.	.	-13.0757	14.3671	0.66812	0.0:1.0:0.0:0.0	.	674;674	C9JHY2;Q7Z3B3	.;K1267_HUMAN	N	674;674;31	ENSP00000262419:D674N;ENSP00000387393:D674N;ENSP00000377117:D31N	.	D	-	1	0	KIAA1267	41483751	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.567000	0.60850	2.764000	0.94973	0.650000	0.86243	GAT		0.428	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	Missense_Mutation	9	36	0	0	0	1	0	9	36				
RPL13AP3	645683	broad.mit.edu	37	14	56233139	56233139	+	lincRNA	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:56233139C>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							ATCTTCTGGCCGACAGTGCGA	0.582																																						ENST00000554458.1																			0																																																			645683							g.chr14:56233139C>T																													14.37:g.56233139C>T						RPL13AP3_ENST00000494676.1_RNA								0	75	+									RNA	SNP	ENST00000554458.1	37																																																																																						0.582	RP11-813I20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411474.1			6	21	0	0	0	1	0	6	21				
DMBT1	1755	broad.mit.edu	37	10	124390621	124390621	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:124390621G>T	ENST00000338354.3	+	46	5889	c.5783G>T	c.(5782-5784)gGg>gTg	p.G1928V	DMBT1_ENST00000368956.2_Missense_Mutation_p.G1300V|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1928V|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1918V|DMBT1_ENST00000359586.6_Missense_Mutation_p.G648V|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1300V|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1918V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1928	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGACAGCTAGGGTGTGGACGT	0.552																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5782-5784)gGg>gTg		deleted in malignant brain tumors 1							113.0	115.0	114.0					10																	124390621		2071	4214	6285	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390621G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5783G>T	10.37:g.124390621G>T	ENSP00000342210:p.Gly1928Val					DMBT1_ENST00000368955.3_Missense_Mutation_p.G1918V|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1300V|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1918V|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1300V|DMBT1_ENST00000359586.6_Missense_Mutation_p.G648V|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1928V	p.G1928V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			46	5889	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1928			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5783G>T		.	.	.	.	.	.	.	.	.	.	G	11.68	1.711225	0.30322	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.41	0.096	0.14488	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.80586	0.4651	H	0.99104	4.43	0.20926	N	0.999825	D;D;D;D;D;D;P	0.89917	0.999;1.0;0.99;1.0;1.0;1.0;0.943	D;D;P;D;D;D;P	0.91635	0.991;0.996;0.649;0.997;0.968;0.999;0.826	T	0.67118	-0.5751	9	0.87932	D	0	.	6.324	0.21232	0.2869:0.1202:0.593:0.0	.	648;1908;1177;2057;1300;1918;1928	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	V	1928;2057;1928;1928;1928;1928;1300;1918;1300;1300;1928;1918;1300;74;648	ENSP00000342210:G1928V;ENSP00000343175:G1918V;ENSP00000327747:G1300V;ENSP00000357905:G1928V;ENSP00000357951:G1918V;ENSP00000357952:G1300V;ENSP00000352593:G648V	ENSP00000331522:G1300V	G	+	2	0	DMBT1	124380611	0.000000	0.05858	0.003000	0.11579	0.164000	0.22412	-0.058000	0.11750	-0.267000	0.09325	-0.345000	0.07892	GGG		0.552	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		15	88	1	0	7.93312e-07	1	8.66864e-07	15	88				
NUP155	9631	broad.mit.edu	37	5	37348606	37348606	+	Splice_Site	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:37348606C>G	ENST00000231498.3	-	9	1199		c.e9+1		NUP155_ENST00000513532.1_Splice_Site|NUP155_ENST00000381843.2_Splice_Site	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa						atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTACATGTTACCTAGCAATGT	0.363																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.e9+1		nucleoporin 155kDa							114.0	106.0	109.0					5																	37348606		2203	4300	6503	SO:0001630	splice_region_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37348606C>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.995+1G>C	5.37:g.37348606C>G						NUP155_ENST00000513532.1_Splice_Site|NUP155_ENST00000381843.2_Splice_Site		NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		9	1199	-	all_lung(31;0.000137)							Q9UBE9|Q9UFL5	Splice_Site	SNP	ENST00000231498.3	37		CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585970	0.86748	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.051	0.97627	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP155	37384363	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.115000	0.77110	2.740000	0.93945	0.650000	0.86243	.		0.363	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298	Intron	11	121	0	0	0	1	0	11	121				
NOA1	84273	broad.mit.edu	37	4	57843655	57843655	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:57843655C>G	ENST00000264230.4	-	1	1334	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	33					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CACCTCCTCTCCAGGAGCGGC	0.662																																						ENST00000264230.4																			0											c.(97-99)Gag>Cag		nitric oxide associated 1							20.0	21.0	21.0					4																	57843655		2203	4299	6502	SO:0001583	missense	84273						GTP binding	g.chr4:57843655C>G	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.97G>C	4.37:g.57843655C>G	ENSP00000264230:p.Glu33Gln						p.E33Q	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	1334	-			33					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.97G>C	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865555	0.32977	.	.	ENSG00000084092	ENST00000264230	T	0.32272	1.46	4.48	2.66	0.31614	.	1.601390	0.04017	N	0.299153	T	0.32255	0.0823	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37478	-0.9704	10	0.49607	T	0.09	.	12.1529	0.54059	0.0:0.696:0.304:0.0	.	33	Q8NC60	CD014_HUMAN	Q	33	ENSP00000264230:E33Q	ENSP00000264230:E33Q	E	-	1	0	C4orf14	57538412	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.092000	0.15066	0.396000	0.25283	0.484000	0.47621	GAG		0.662	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		13	59	0	0	0	1	0	13	59				
THEG	51298	broad.mit.edu	37	19	375967	375967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:375967C>T	ENST00000342640.4	-	1	46	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	THEG_ENST00000346878.2_Missense_Mutation_p.G2R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	2					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGTCCCCCATACACCGG	0.687																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(4-6)Ggg>Agg		theg spermatid protein							29.0	29.0	29.0					19																	375967		2201	4297	6498	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375967C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.4G>A	19.37:g.375967C>T	ENSP00000340088:p.Gly2Arg					THEG_ENST00000346878.2_Missense_Mutation_p.G2R	p.G2R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	46	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	2					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.4G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717665	0.68844	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.49720	1.05;0.77	3.33	3.33	0.38152	.	1.165310	0.06480	N	0.732704	T	0.53514	0.1801	N	0.24115	0.695	0.37794	D	0.927457	D;D	0.63046	0.992;0.992	P;P	0.62740	0.906;0.906	T	0.54132	-0.8339	10	0.87932	D	0	-9.1883	10.4054	0.44254	0.0:1.0:0.0:0.0	.	2;2	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	R	2	ENSP00000340088:G2R;ENSP00000264820:G2R	ENSP00000340088:G2R	G	-	1	0	THEG	326967	0.998000	0.40836	0.979000	0.43373	0.150000	0.21749	2.616000	0.46376	2.157000	0.67596	0.505000	0.49811	GGG		0.687	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			6	64	0	0	0	1	0	6	64				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	36	0	0	0	1	0	4	36				
CES2	8824	broad.mit.edu	37	16	66977254	66977254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:66977254G>A	ENST00000317091.4	+	11	2649	c.1665G>A	c.(1663-1665)tgG>tgA	p.W555*	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Nonsense_Mutation_p.W539*	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	491					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	TGAAGTACTGGGCCAACTTTG	0.532																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1663-1665)tgG>tgA		carboxylesterase 2							122.0	89.0	100.0					16																	66977254		2200	4300	6500	SO:0001587	stop_gained	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66977254G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1665G>A	16.37:g.66977254G>A	ENSP00000317842:p.Trp555*					CES2_ENST00000417689.1_Nonsense_Mutation_p.W539*|RP11-361L15.4_ENST00000566869.1_RNA	p.W555*	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	11	2649	+		Ovarian(137;0.0563)	491					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Nonsense_Mutation	SNP	ENST00000317091.4	37	c.1665G>A	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233431	0.58886	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	.	.	.	4.85	4.85	0.62838	.	0.525110	0.17887	N	0.158649	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5615	0.76253	0.0:0.0:1.0:0.0	.	.	.	.	X	539;555	.	ENSP00000317842:W555X	W	+	3	0	CES2	65534755	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.185000	0.89704	2.527000	0.85204	0.603000	0.83216	TGG		0.532	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		47	65	0	0	0	1	0	47	65				
TIAM2	26230	broad.mit.edu	37	6	155569309	155569309	+	Silent	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:155569309G>C	ENST00000461783.3	+	22	5101	c.3828G>C	c.(3826-3828)ctG>ctC	p.L1276L	TIAM2_ENST00000456877.2_Silent_p.L588L|TIAM2_ENST00000275246.7_Silent_p.L201L|TIAM2_ENST00000528391.2_Silent_p.L612L|TIAM2_ENST00000456144.1_Silent_p.L1276L|TIAM2_ENST00000360366.4_Silent_p.L1300L|TIAM2_ENST00000318981.5_Silent_p.L1276L|TIAM2_ENST00000529824.2_Silent_p.L1276L|TIAM2_ENST00000367174.2_Silent_p.L652L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1276	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACTACCACCTGACGGGTGAGG	0.692											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3826-3828)ctG>ctC		T-cell lymphoma invasion and metastasis 2							30.0	27.0	28.0					6																	155569309		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155569309G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3828G>C	6.37:g.155569309G>C			OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_ENST00000275246.7_Silent_p.L201L|TIAM2_ENST00000360366.4_Silent_p.L1300L|TIAM2_ENST00000456877.2_Silent_p.L588L|TIAM2_ENST00000456144.1_Silent_p.L1276L|TIAM2_ENST00000318981.5_Silent_p.L1276L|TIAM2_ENST00000367174.2_Silent_p.L652L|TIAM2_ENST00000528391.2_Silent_p.L612L|TIAM2_ENST00000529824.2_Silent_p.L1276L	p.L1276L			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	5101	+		Ovarian(120;0.196)	1276			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.3828G>C	CCDS34558.1																																																																																				0.692	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		12	41	0	0	0	1	0	12	41				
OR5H1	26341	broad.mit.edu	37	3	97852173	97852173	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:97852173T>C	ENST00000354565.2	+	1	632	c.632T>C	c.(631-633)aTt>aCt	p.I211T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTATTCAGCATTGTGACTATT	0.333																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(631-633)aTt>aCt		olfactory receptor, family 5, subfamily H, member 1							58.0	62.0	61.0					3																	97852173		2202	4299	6501	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852173T>C	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.632T>C	3.37:g.97852173T>C	ENSP00000346575:p.Ile211Thr					RP11-343D2.11_ENST00000508964.1_RNA	p.I211T	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	632	+			211						Missense_Mutation	SNP	ENST00000354565.2	37	c.632T>C	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	T	6.657	0.489788	0.12702	.	.	ENSG00000231192	ENST00000354565	T	0.37584	1.19	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.141093	0.32624	N	0.005846	T	0.45458	0.1343	L	0.43923	1.385	0.09310	N	1	D	0.56746	0.977	P	0.62560	0.904	T	0.19582	-1.0301	10	0.52906	T	0.07	.	10.1009	0.42504	0.0:0.0:0.0:1.0	.	211	A6NKK0	OR5H1_HUMAN	T	211	ENSP00000346575:I211T	ENSP00000346575:I211T	I	+	2	0	OR5H1	99334863	0.024000	0.19004	0.106000	0.21319	0.037000	0.13140	2.212000	0.42835	1.481000	0.48307	0.164000	0.16699	ATT		0.333	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		12	41	0	0	0	1	0	12	41				
METAP1D	254042	broad.mit.edu	37	2	172928539	172928539	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:172928539C>T	ENST00000315796.4	+	3	686	c.299C>T	c.(298-300)gCt>gTt	p.A100V	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	100					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CTTCATCAGGCTTGTCAGCTG	0.498																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(298-300)gCt>gTt		methionyl aminopeptidase type 1D (mitochondrial)							90.0	76.0	80.0					2																	172928539		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172928539C>T	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.299C>T	2.37:g.172928539C>T	ENSP00000315152:p.Ala100Val					METAP1D_ENST00000488581.1_3'UTR	p.A100V	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			3	686	+			100					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.299C>T	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138037	0.94560	.	.	ENSG00000172878	ENST00000315796	D	0.84730	-1.89	5.49	5.49	0.81192	Peptidase M24, structural domain (3);	0.102549	0.64402	D	0.000002	D	0.90143	0.6920	M	0.62266	1.93	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	D	0.86053	0.1527	10	0.15952	T	0.53	-5.4376	19.7404	0.96228	0.0:1.0:0.0:0.0	.	100	Q6UB28	AMP1D_HUMAN	V	100	ENSP00000315152:A100V	ENSP00000315152:A100V	A	+	2	0	METAP1D	172636785	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.377000	0.59562	2.734000	0.93682	0.655000	0.94253	GCT		0.498	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		10	58	0	0	0	1	0	10	58				
ADAM7	8756	broad.mit.edu	37	8	24346709	24346709	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:24346709C>A	ENST00000175238.6	+	12	1212	c.1129C>A	c.(1129-1131)Caa>Aaa	p.Q377K	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.Q377K|ADAM7_ENST00000520720.1_Missense_Mutation_p.Q149K|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	377	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGCCAAAACCAATACCACCA	0.353																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(1129-1131)Caa>Aaa		ADAM metallopeptidase domain 7							139.0	122.0	128.0					8																	24346709		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24346709C>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1129C>A	8.37:g.24346709C>A	ENSP00000175238:p.Gln377Lys					ADAM7_ENST00000520720.1_Missense_Mutation_p.Q149K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.Q377K	p.Q377K	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	12	1212	+		Prostate(55;0.0181)	377			Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.1129C>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136945	0.37728	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.63096	-0.02;-0.02;-0.02	5.74	5.74	0.90152	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.52532	D	0.000064	T	0.75568	0.3867	M	0.71036	2.16	0.09310	N	1	P;D	0.76494	0.775;0.999	B;D	0.81914	0.426;0.995	T	0.67601	-0.5629	10	0.30854	T	0.27	.	12.3854	0.55328	0.1681:0.8319:0.0:0.0	.	149;377	E5RK87;Q9H2U9	.;ADAM7_HUMAN	K	377;377;149;192	ENSP00000175238:Q377K;ENSP00000370166:Q377K;ENSP00000430400:Q149K	ENSP00000175238:Q377K	Q	+	1	0	ADAM7	24402599	0.321000	0.24625	0.030000	0.17652	0.003000	0.03518	1.573000	0.36472	2.703000	0.92315	0.655000	0.94253	CAA		0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		7	67	1	0	0.000442599	1	0.000462208	7	67				
COX10	1352	broad.mit.edu	37	17	13980128	13980128	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:13980128A>G	ENST00000261643.3	+	3	331	c.254A>G	c.(253-255)gAa>gGa	p.E85G	COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.E85G	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	85					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCTTTCCTTGAAAAAACATCT	0.428																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(253-255)gAa>gGa		cytochrome c oxidase assembly homolog 10 (yeast)							81.0	77.0	78.0					17																	13980128		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13980128A>G	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.254A>G	17.37:g.13980128A>G	ENSP00000261643:p.Glu85Gly					COX10_ENST00000429152.2_Missense_Mutation_p.E85G|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_Intron	p.E85G	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	3	331	+		all_lung(20;0.06)|Lung SC(565;0.168)	85					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.254A>G	CCDS11166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.3|26.3	4.723695|4.723695	0.89298|0.89298	.|.	.|.	ENSG00000006695|ENSG00000006695	ENST00000261643|ENST00000429152	T|.	0.38560|.	1.13|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.108238|.	0.64402|.	D|.	0.000007|.	T|.	0.73853|.	0.3640|.	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	P|.	0.50617|.	0.937|.	P|.	0.46110|.	0.504|.	T|.	0.74659|.	-0.3591|.	10|.	0.34782|.	T|.	0.22|.	-26.2799|-26.2799	14.2523|14.2523	0.66028|0.66028	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	85|.	Q12887|.	COX10_HUMAN|.	G|W	85|45	ENSP00000261643:E85G|.	ENSP00000261643:E85G|.	E|X	+|+	2|3	0|0	COX10|COX10	13920853|13920853	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.979000|0.979000	0.70002|0.70002	2.672000|2.672000	0.46850|0.46850	2.166000|2.166000	0.68216|0.68216	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.428	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		16	66	0	0	0	1	0	16	66				
TTN	7273	broad.mit.edu	37	2	179542634	179542634	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:179542634T>A	ENST00000591111.1	-	144	33278	c.33054A>T	c.(33052-33054)aaA>aaT	p.K11018N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K11335N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10091N|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	10165	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTTCACGTTTCTTTGGCA	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34003-34005)aaA>aaT		titin							59.0	57.0	58.0					2																	179542634		1829	4074	5903	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542634T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33054A>T	2.37:g.179542634T>A	ENSP00000465570:p.Lys11018Asn					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10091N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11018N|TTN_ENST00000359218.5_Intron	p.K11335N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		146	34229	-			11018			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.34005A>T		.	.	.	.	.	.	.	.	.	.	T	12.97	2.098008	0.37048	.	.	ENSG00000155657	ENST00000342992	T	0.70164	-0.46	6.07	6.07	0.98685	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.50463	0.1617	N	0.19112	0.55	0.48901	D	0.999722	B	0.12630	0.006	B	0.08055	0.003	T	0.50701	-0.8797	9	0.87932	D	0	.	8.8295	0.35076	0.0:0.0671:0.1286:0.8043	.	11018	Q8WZ42	TITIN_HUMAN	N	10091	ENSP00000343764:K10091N	ENSP00000343764:K10091N	K	-	3	2	TTN	179250879	0.994000	0.37717	0.994000	0.49952	0.929000	0.56500	1.416000	0.34759	2.330000	0.79161	0.528000	0.53228	AAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	50	0	0	0	1	0	21	50				
SYNPO	11346	broad.mit.edu	37	5	150027813	150027813	+	Silent	SNP	C	C	T	rs376126437		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:150027813C>T	ENST00000394243.1	+	3	1082	c.708C>T	c.(706-708)ccC>ccT	p.P236P	SYNPO_ENST00000522122.1_Silent_p.P236P|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	236					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGAGCCCCGACAGAGGGG	0.672																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(706-708)ccC>ccT		synaptopodin		C	,,,	1,4403		0,1,2201	24.0	31.0	29.0		,708,708,	0.0	0.2	5		29	0,8600		0,0,4300	no	utr-5,coding-synonymous,coding-synonymous,utr-5	SYNPO	NM_001109974.2,NM_001166208.1,NM_001166209.1,NM_007286.5	,,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,,	,236/930,236/930,	150027813	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150027813C>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.708C>T	5.37:g.150027813C>T						SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Silent_p.P236P	p.P236P	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1082	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	236					A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.708C>T	CCDS54937.1																																																																																				0.672	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		3	46	0	0	0	1	0	3	46				
UBXN6	80700	broad.mit.edu	37	19	4446697	4446697	+	Silent	SNP	G	G	A	rs145906971		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:4446697G>A	ENST00000301281.6	-	8	844	c.720C>T	c.(718-720)taC>taT	p.Y240Y	UBXN6_ENST00000394765.3_Silent_p.Y187Y|CTB-50L17.7_ENST00000588798.1_RNA|MIR4746_ENST00000579802.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	240	PUB.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CGCTCAGCACGTAGAACTCCT	0.677																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(718-720)taC>taT		UBX domain protein 6		G	,	0,4406		0,0,2203	41.0	38.0	39.0		561,720	-5.0	1.0	19	dbSNP_134	39	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous	UBXN6	NM_001171091.1,NM_025241.2	,	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,	187/389,240/442	4446697	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446697G>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.720C>T	19.37:g.4446697G>A						UBXN6_ENST00000394765.3_Silent_p.Y187Y	p.Y240Y	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			8	844	-			240			PUB.		D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	c.720C>T	CCDS12129.1																																																																																				0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		22	64	0	0	0	1	0	22	64				
SCN8A	6334	broad.mit.edu	37	12	52163651	52163651	+	Splice_Site	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:52163651G>A	ENST00000354534.6	+	18	3550		c.e18-1		SCN8A_ENST00000545061.1_Splice_Site	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGCGTGTCTAGAAACTAGATG	0.527																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.e18-1		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						46.0	47.0	46.0					12																	52163651		2070	4223	6293	SO:0001630	splice_region_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52163651G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3373-1G>A	12.37:g.52163651G>A						SCN8A_ENST00000545061.1_Splice_Site		NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	18	3550	+								B9VWG8|O95788|Q9NYX2|Q9UPB2	Splice_Site	SNP	ENST00000354534.6	37		CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710508	0.68730	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3432	0.94352	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCN8A	50449918	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.021000	0.76425	2.884000	0.98904	0.655000	0.94253	.		0.527	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	Intron	3	9	0	0	0	1	0	3	9				
POLR2J	5439	broad.mit.edu	37	7	102119269	102119269	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:102119269G>C	ENST00000292614.5	-	1	85	c.39C>G	c.(37-39)ttC>ttG	p.F13L	POLR2J_ENST00000393794.3_Missense_Mutation_p.F13L|AC093668.3_ENST00000607525.1_RNA	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	13					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|LRR domain binding (GO:0030275)			pancreas(2)	2						TCTCGCCCTCGAAGAGCAAGA	0.687											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292614.5																			0				pancreas(2)	2						c.(37-39)ttC>ttG		polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa							16.0	20.0	19.0					7																	102119269		1990	3968	5958	SO:0001583	missense	5439				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity	g.chr7:102119269G>C	X98433	CCDS5724.1	7q11.2	2013-01-21	2002-08-29		ENSG00000005075	ENSG00000005075		"""RNA polymerase subunits"""	9197	protein-coding gene	gene with protein product		604150	"""polymerase (RNA) II (DNA directed) polypeptide J (13.3kD)"""				Standard	XM_005250452		Approved	RPB11, hRPB14, RPB11A, RPB11m, POLR2J1	uc003uzp.1	P52435	OTTHUMG00000150387	ENST00000292614.5:c.39C>G	7.37:g.102119269G>C	ENSP00000292614:p.Phe13Leu		OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1364	POLR2J_ENST00000393794.3_Missense_Mutation_p.F13L	p.F13L	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN			1	85	-			13					A5D6V8|O43375	Missense_Mutation	SNP	ENST00000292614.5	37	c.39C>G	CCDS5724.1	.	.	.	.	.	.	.	.	.	.	G	7.534	0.659329	0.14645	.	.	ENSG00000005075	ENST00000292614;ENST00000393794	D;D	0.91996	-2.95;-2.95	5.47	2.57	0.30868	DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.83013	0.5162	N	0.20881	0.62	0.49213	D	0.999766	B	0.06786	0.001	B	0.04013	0.001	T	0.70200	-0.4937	10	0.11485	T	0.65	-27.8126	10.1094	0.42552	0.1451:0.1158:0.7391:0.0	.	13	P52435	RPB11_HUMAN	L	13	ENSP00000292614:F13L;ENSP00000377383:F13L	ENSP00000292614:F13L	F	-	3	2	POLR2J	101906274	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	1.950000	0.40323	0.271000	0.22005	-1.164000	0.01763	TTC		0.687	POLR2J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317913.1	NM_006234		10	60	0	0	0	1	0	10	60				
PCDHB8	56128	broad.mit.edu	37	5	140558696	140558696	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:140558696G>T	ENST00000239444.2	+	1	1326	c.1081G>T	c.(1081-1083)Gcg>Tcg	p.A361S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGAGAATGCGCCTGAAAC	0.448																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1081-1083)Gcg>Tcg									229.0	298.0	275.0					5																	140558696		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558696G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1081G>T	5.37:g.140558696G>T	ENSP00000239444:p.Ala361Ser						p.A361S	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1326	+			361			Cadherin 4.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1081G>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.923249	0.00055	.	.	ENSG00000120322	ENST00000239444	T	0.03580	3.88	4.25	0.211	0.15236	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01489	0.0048	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.47446	-0.9117	9	0.02654	T	1	.	7.777	0.29043	0.1286:0.0:0.428:0.4434	.	361	Q9UN66	PCDB8_HUMAN	S	361	ENSP00000239444:A361S	ENSP00000239444:A361S	A	+	1	0	PCDHB8	140538880	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.535000	0.06142	-0.232000	0.09811	-0.485000	0.04761	GCG		0.448	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		49	679	1	0	1.51926e-22	1	1.88479e-22	49	679				
EBNA1BP2	10969	broad.mit.edu	37	1	43637223	43637223	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:43637223C>T	ENST00000236051.2	-	3	391	c.250G>A	c.(250-252)Gag>Aag	p.E84K	WDR65_ENST00000372492.4_5'Flank|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.E139K|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	84					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGGCGCCTCAGATCCACCG	0.498																																						ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(415-417)Gag>Aag		EBNA1 binding protein 2							162.0	159.0	160.0					1																	43637223		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43637223C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.250G>A	1.37:g.43637223C>T	ENSP00000236051:p.Glu84Lys					EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.E84K	p.E139K	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			4	563	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	84					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.415G>A	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	2.298	-0.360898	0.05103	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.45668	0.89;0.92	5.19	1.1	0.20463	.	0.945432	0.08961	N	0.868629	T	0.20820	0.0501	N	0.17082	0.46	0.09310	N	1	B;B;B	0.30146	0.27;0.003;0.003	B;B;B	0.28385	0.089;0.005;0.005	T	0.23976	-1.0173	10	0.09843	T	0.71	-0.0343	4.0031	0.09588	0.0915:0.3424:0.4271:0.139	.	84;84;84	B4DHA6;Q6IB29;Q99848	.;.;EBP2_HUMAN	K	139;84	ENSP00000407323:E139K;ENSP00000236051:E84K	ENSP00000236051:E84K	E	-	1	0	EBNA1BP2	43409810	0.038000	0.19896	0.000000	0.03702	0.005000	0.04900	0.847000	0.27696	0.108000	0.17862	0.650000	0.86243	GAG		0.498	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			37	224	0	0	0	1	0	37	224				
GPR179	440435	broad.mit.edu	37	17	36483148	36483148	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:36483148C>T	ENST00000342292.4	-	11	6324	c.6304G>A	c.(6304-6306)Gag>Aag	p.E2102K	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2102					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTGCCTCAGAACTGCCT	0.602																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(6304-6306)Gag>Aag		G protein-coupled receptor 179							91.0	92.0	91.0					17																	36483148		2057	4209	6266	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483148C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6304G>A	17.37:g.36483148C>T	ENSP00000345060:p.Glu2102Lys					GPR179_ENST00000584976.1_Intron	p.E2102K	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	6324	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2102						Missense_Mutation	SNP	ENST00000342292.4	37	c.6304G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	8.351	0.831012	0.16820	.	.	ENSG00000188888	ENST00000342292	T	0.48836	0.8	4.88	2.78	0.32641	.	0.321820	0.22504	N	0.059182	T	0.32734	0.0839	L	0.33485	1.01	0.09310	N	1	B	0.16166	0.016	B	0.12837	0.008	T	0.14868	-1.0457	10	0.30854	T	0.27	-8.1611	8.5066	0.33190	0.0:0.7387:0.168:0.0933	.	2102	Q6PRD1	GP179_HUMAN	K	2102	ENSP00000345060:E2102K	ENSP00000345060:E2102K	E	-	1	0	GPR179	33736674	0.000000	0.05858	0.659000	0.29680	0.430000	0.31655	-0.064000	0.11636	1.277000	0.44412	0.561000	0.74099	GAG		0.602	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			41	147	0	0	0	1	0	41	147				
KIR3DL1	3811	broad.mit.edu	37	19	55286879	55286879	+	Intron	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:55286879G>A	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Silent_p.K211K|KIR2DL1_ENST00000336077.6_Silent_p.K211K|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGTGGTCAAAGTCAAGTGACC	0.547																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(631-633)aaG>aaA		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							173.0	180.0	177.0					19																	55286879		2124	4205	6329	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55286879G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42110G>A	19.37:g.55286879G>A						KIR2DL1_ENST00000291633.7_Silent_p.K211K|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron	p.K211K	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	673	+			211					O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.633G>A																																																																																					0.547	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		6	82	0	0	0	1	0	6	82				
HSPA12B	116835	broad.mit.edu	37	20	3729034	3729034	+	Silent	SNP	T	T	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr20:3729034T>G	ENST00000254963.2	+	8	991	c.846T>G	c.(844-846)cgT>cgG	p.R282R	HSPA12B_ENST00000542646.1_Silent_p.R116R	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	282							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCAGCTTCCGTCAGGGTGAGC	0.672																																						ENST00000254963.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(844-846)cgT>cgG		heat shock 70kD protein 12B							27.0	31.0	30.0					20																	3729034		2195	4290	6485	SO:0001819	synonymous_variant	116835						ATP binding	g.chr20:3729034T>G	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.846T>G	20.37:g.3729034T>G						HSPA12B_ENST00000542646.1_Silent_p.R116R	p.R282R	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN			8	991	+			282					D3DVX7|Q2TAK3|Q9BR52	Silent	SNP	ENST00000254963.2	37	c.846T>G	CCDS13061.1																																																																																				0.672	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		10	47	0	0	0	1	0	10	47				
YY1	7528	broad.mit.edu	37	14	100705835	100705835	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:100705835C>G	ENST00000262238.4	+	1	514	c.254C>G	c.(253-255)gCt>gGt	p.A85G	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	85	Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCATGATCGCTCTGCAGCCG	0.736																																						ENST00000262238.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(253-255)gCt>gGt		YY1 transcription factor							22.0	17.0	18.0					14																	100705835		2176	4257	6433	SO:0001583	missense	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705835C>G	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.254C>G	14.37:g.100705835C>G	ENSP00000262238:p.Ala85Gly						p.A85G	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			1	514	+		Melanoma(154;0.152)	85					Q14935	Missense_Mutation	SNP	ENST00000262238.4	37	c.254C>G	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150686	0.78001	.	.	ENSG00000100811	ENST00000262238	T	0.13778	2.56	2.78	0.865	0.19074	.	0.000000	0.64402	U	0.000001	T	0.26738	0.0654	L	0.59436	1.845	0.44067	D	0.996811	D	0.76494	0.999	D	0.80764	0.994	T	0.00975	-1.1494	10	0.72032	D	0.01	.	6.9644	0.24615	0.0:0.7546:0.0:0.2454	.	85	P25490	TYY1_HUMAN	G	85	ENSP00000262238:A85G	ENSP00000262238:A85G	A	+	2	0	YY1	99775588	1.000000	0.71417	0.783000	0.31826	0.995000	0.86356	6.141000	0.71744	0.064000	0.16427	0.549000	0.68633	GCT		0.736	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		26	39	0	0	0	1	0	26	39				
TMEM132A	54972	broad.mit.edu	37	11	60703894	60703894	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:60703894A>T	ENST00000453848.2	+	11	2745	c.2587A>T	c.(2587-2589)Atc>Ttc	p.I863F	TMEM132A_ENST00000005286.4_Missense_Mutation_p.I864F			Q24JP5	T132A_HUMAN	transmembrane protein 132A	863	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCCATCTTCATCTTCTTGGT	0.602																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(2590-2592)Atc>Ttc		transmembrane protein 132A							244.0	220.0	228.0					11																	60703894		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60703894A>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2587A>T	11.37:g.60703894A>T	ENSP00000405823:p.Ile863Phe					TMEM132A_ENST00000453848.2_Missense_Mutation_p.I863F	p.I864F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			11	2743	+			863			Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.2590A>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.764971	0.49574	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.15487	2.42;2.42	5.15	4.01	0.46588	.	0.436220	0.20999	N	0.081889	T	0.29423	0.0733	L	0.44542	1.39	0.37275	D	0.907577	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.08249	-1.0731	10	0.87932	D	0	-24.745	8.476	0.33014	0.7939:0.131:0.0752:0.0	.	863;864	Q24JP5;Q24JP5-2	T132A_HUMAN;.	F	614;863;864	ENSP00000405823:I863F;ENSP00000005286:I864F	ENSP00000005286:I864F	I	+	1	0	TMEM132A	60460470	0.461000	0.25783	1.000000	0.80357	0.875000	0.50365	0.738000	0.26158	0.372000	0.24591	-1.139000	0.01908	ATC		0.602	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		54	240	0	0	0	1	0	54	240				
IPPK	64768	broad.mit.edu	37	9	95405034	95405034	+	Splice_Site	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:95405034C>T	ENST00000287996.3	-	7	839	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	188					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GTTCTCTTACCCTGAGTAGAG	0.557																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.e7+1		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							180.0	137.0	152.0					9																	95405034		2203	4300	6503	SO:0001630	splice_region_variant	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95405034C>T	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.563+1G>A	9.37:g.95405034C>T							p.G188_splice	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			7	839	-			188					Q5T9F7|Q9H7V8	Splice_Site	SNP	ENST00000287996.3	37	c.563_splice	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548342	0.65311	.	.	ENSG00000127080	ENST00000287996	T	0.34275	1.37	4.48	4.48	0.54585	.	0.106307	0.64402	D	0.000004	T	0.58949	0.2158	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60469	-0.7257	9	.	.	.	-10.9766	17.5556	0.87888	0.0:1.0:0.0:0.0	.	188	Q9H8X2	IPPK_HUMAN	E	188	ENSP00000287996:G188E	.	G	-	2	0	IPPK	94444855	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	6.912000	0.75753	2.221000	0.72209	0.313000	0.20887	GGA		0.557	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755	Missense_Mutation	14	79	0	0	0	1	0	14	79				
USP24	23358	broad.mit.edu	37	1	55614214	55614214	+	Silent	SNP	T	T	A	rs373502911	byFrequency	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:55614214T>A	ENST00000294383.6	-	17	1889	c.1890A>T	c.(1888-1890)gtA>gtT	p.V630V	USP24_ENST00000407756.1_Silent_p.V470V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	630					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTACCACCCATACAAACTGGG	0.318																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1888-1890)gtA>gtT		ubiquitin specific peptidase 24							75.0	66.0	69.0					1																	55614214		1827	4080	5907	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55614214T>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1890A>T	1.37:g.55614214T>A						USP24_ENST00000407756.1_Silent_p.V470V	p.V630V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			17	1889	-			630					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.1890A>T	CCDS44154.2																																																																																				0.318	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			3	10	0	0	0	1	0	3	10				
ARMC3	219681	broad.mit.edu	37	10	23297809	23297809	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:23297809C>G	ENST00000298032.5	+	16	2078	c.1994C>G	c.(1993-1995)tCt>tGt	p.S665C	ARMC3_ENST00000409049.3_Missense_Mutation_p.S665C|ARMC3_ENST00000376528.4_Missense_Mutation_p.S402C|ARMC3_ENST00000409983.3_Missense_Mutation_p.S658C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	665						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGCCAGCTTCTGGACGAAAT	0.413																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1993-1995)tCt>tGt		armadillo repeat containing 3							56.0	53.0	54.0					10																	23297809		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23297809C>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1994C>G	10.37:g.23297809C>G	ENSP00000298032:p.Ser665Cys					ARMC3_ENST00000409983.3_Missense_Mutation_p.S658C|ARMC3_ENST00000409049.3_Missense_Mutation_p.S665C|ARMC3_ENST00000376528.4_Missense_Mutation_p.S402C	p.S665C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			16	2078	+			665					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1994C>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	c	15.84	2.951812	0.53186	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000376528	T;T;T;T	0.41400	1.07;1.07;1.0;2.31	5.18	4.21	0.49690	.	1.965940	0.02313	N	0.072313	T	0.51278	0.1665	L	0.32530	0.975	0.23435	N	0.99769	D;D	0.63880	0.992;0.993	P;P	0.56216	0.794;0.72	T	0.47573	-0.9107	10	0.56958	D	0.05	-6.8412	10.6748	0.45778	0.0:0.753:0.247:0.0	.	658;665	Q5W041-4;Q5W041	.;ARMC3_HUMAN	C	665;658;665;402	ENSP00000298032:S665C;ENSP00000386943:S658C;ENSP00000387288:S665C;ENSP00000365711:S402C	ENSP00000298032:S665C	S	+	2	0	ARMC3	23337815	0.125000	0.22332	0.970000	0.41538	0.714000	0.41099	2.589000	0.46145	2.582000	0.87167	0.447000	0.29281	TCT		0.413	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		5	13	0	0	0	1	0	5	13				
UBE2NL	389898	broad.mit.edu	37	X	142967437	142967437	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:142967437C>A	ENST00000370494.1	+	1	265	c.235C>A	c.(235-237)Cca>Aca	p.P79T		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	79						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AATTTATCATCCAAATGTAGA	0.423																																						ENST00000370494.1																			0				breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(235-237)Cca>Aca		ubiquitin-conjugating enzyme E2N-like							86.0	81.0	82.0					X																	142967437		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967437C>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.235C>A	X.37:g.142967437C>A	ENSP00000359525:p.Pro79Thr						p.P79T	NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN			1	265	+	Acute lymphoblastic leukemia(192;6.56e-05)		79					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.235C>A	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440997	0.25900	.	.	ENSG00000102069	ENST00000370494	T	0.62232	0.04	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44285	U	0.000478	D	0.87422	0.6173	H	0.99970	5.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86451	0.1773	10	0.87932	D	0	-3.7892	7.8005	0.29172	0.0:1.0:0.0:0.0	.	79	Q5JXB2	UE2NL_HUMAN	T	79	ENSP00000359525:P79T	ENSP00000359525:P79T	P	+	1	0	UBE2NL	142795103	1.000000	0.71417	0.995000	0.50966	0.070000	0.16714	5.342000	0.65970	0.849000	0.35215	0.190000	0.17370	CCA		0.423	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		54	58	1	0	1.07234e-20	1	1.32042e-20	54	58				
LIPF	8513	broad.mit.edu	37	10	90433492	90433492	+	Splice_Site	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:90433492G>T	ENST00000238983.4	+	7	862		c.e7+1		LIPF_ENST00000608620.1_Splice_Site|LIPF_ENST00000355843.2_Splice_Site|LIPF_ENST00000394375.3_Splice_Site	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric						lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CTTTAACACGGTTAGTATGCA	0.358																																						ENST00000394375.3																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13						c.e8+1		lipase, gastric							155.0	157.0	156.0					10																	90433492		2203	4300	6503	SO:0001630	splice_region_variant	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90433492G>T	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.816+1G>T	10.37:g.90433492G>T						LIPF_ENST00000238983.4_Splice_Site|LIPF_ENST00000355843.2_Splice_Site		NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	8	959	+		Colorectal(252;0.0161)						B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Splice_Site	SNP	ENST00000238983.4	37		CCDS7389.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813596	0.32053	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3125	0.87213	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIPF	90423472	1.000000	0.71417	0.983000	0.44433	0.104000	0.19210	7.294000	0.78760	2.673000	0.90976	0.655000	0.94253	.		0.358	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1		Intron	23	103	1	0	1.85244e-09	1	2.12259e-09	23	103				
SLC25A42	284439	broad.mit.edu	37	19	19221647	19221647	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:19221647G>T	ENST00000318596.7	+	8	1070	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	307					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CACCACCTTCGACCTCATGCA	0.632																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(919-921)Gac>Tac		solute carrier family 25, member 42							66.0	51.0	56.0					19																	19221647		2203	4300	6503	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19221647G>T		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.919G>T	19.37:g.19221647G>T	ENSP00000326693:p.Asp307Tyr						p.D307Y	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		8	1070	+			307					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.919G>T	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629759	0.87660	.	.	ENSG00000181035	ENST00000318596	D	0.82081	-1.57	4.92	4.92	0.64577	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94807	0.7975	10	0.87932	D	0	-10.1239	16.7025	0.85363	0.0:0.0:1.0:0.0	.	307	Q86VD7	S2542_HUMAN	Y	307	ENSP00000326693:D307Y	ENSP00000326693:D307Y	D	+	1	0	SLC25A42	19082647	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.833000	0.92089	2.280000	0.76307	0.555000	0.69702	GAC		0.632	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		9	67	1	0	0.000673444	1	0.000690176	9	67				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	31	0	0	0	1	0	3	31				
NYNRIN	57523	broad.mit.edu	37	14	24886020	24886020	+	Missense_Mutation	SNP	G	G	A	rs532821287	byFrequency	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:24886020G>A	ENST00000382554.3	+	9	5383	c.5065G>A	c.(5065-5067)Gtc>Atc	p.V1689I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1689	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCCGGCACGTCCTTGTGAG	0.657													G|||	6	0.00119808	0.0	0.0	5008	,	,		16808	0.005		0.0	False		,,,				2504	0.001					ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5065-5067)Gtc>Atc		NYN domain and retroviral integrase containing							17.0	20.0	19.0					14																	24886020		1953	4141	6094	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886020G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5065G>A	14.37:g.24886020G>A	ENSP00000371994:p.Val1689Ile						p.V1689I	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5383	+			1689			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.5065G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906187	0.52333	.	.	ENSG00000205978	ENST00000382554	T	0.42900	0.96	5.26	5.26	0.73747	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.35128	0.0921	L	0.45352	1.415	0.26405	N	0.97637	P	0.51147	0.942	B	0.40285	0.325	T	0.37150	-0.9718	9	0.66056	D	0.02	.	9.7193	0.40293	0.0912:0.0:0.9088:0.0	.	1689	Q9P2P1	NYNRI_HUMAN	I	1689	ENSP00000371994:V1689I	ENSP00000371994:V1689I	V	+	1	0	NYNRIN	23955860	1.000000	0.71417	0.990000	0.47175	0.622000	0.37654	3.903000	0.56318	2.735000	0.93741	0.561000	0.74099	GTC		0.657	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			7	38	0	0	0	1	0	7	38				
ABCA13	154664	broad.mit.edu	37	7	48356756	48356756	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:48356756C>T	ENST00000435803.1	+	27	9886	c.9862C>T	c.(9862-9864)Ccg>Tcg	p.P3288S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3288					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAACAGCACCGTTTTGCTT	0.363																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(9862-9864)Ccg>Tcg		ATP-binding cassette, sub-family A (ABC1), member 13							42.0	41.0	42.0					7																	48356756		1846	4082	5928	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48356756C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9862C>T	7.37:g.48356756C>T	ENSP00000411096:p.Pro3288Ser						p.P3288S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			27	9886	+			3288					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9862C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469818	0.63625	.	.	ENSG00000179869	ENST00000435803	D	0.87029	-2.2	5.77	5.77	0.91146	.	0.000000	0.48286	D	0.000199	D	0.92545	0.7632	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.968	D	0.92356	0.5893	10	0.62326	D	0.03	.	17.5174	0.87778	0.0:1.0:0.0:0.0	.	990;3288	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	S	3288	ENSP00000411096:P3288S	ENSP00000411096:P3288S	P	+	1	0	ABCA13	48327302	0.995000	0.38212	0.991000	0.47740	0.466000	0.32739	4.453000	0.60061	2.885000	0.99019	0.655000	0.94253	CCG		0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	17	0	0	0	1	0	3	17				
ALX3	257	broad.mit.edu	37	1	110607501	110607501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:110607501G>A	ENST00000369792.4	-	2	389	c.302C>T	c.(301-303)gCc>gTc	p.A101V	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	101					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGAAGCTGGCAGCTTTGGA	0.617																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(301-303)gCc>gTc		ALX homeobox 3							19.0	25.0	23.0					1																	110607501		2185	4294	6479	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607501G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.302C>T	1.37:g.110607501G>A	ENSP00000358807:p.Ala101Val						p.A101V	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	389	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	101					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.302C>T	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254347	0.39896	.	.	ENSG00000156150	ENST00000369792	D	0.92048	-2.96	4.04	3.11	0.35812	.	0.590250	0.15224	N	0.273764	T	0.74935	0.3782	N	0.24115	0.695	0.24184	N	0.995571	B	0.06786	0.001	B	0.06405	0.002	T	0.67003	-0.5780	10	0.44086	T	0.13	.	9.5091	0.39065	0.1084:0.0:0.8916:0.0	.	101	O95076	ALX3_HUMAN	V	101	ENSP00000358807:A101V	ENSP00000358807:A101V	A	-	2	0	ALX3	110409024	0.953000	0.32496	1.000000	0.80357	0.985000	0.73830	1.709000	0.37909	0.794000	0.33899	0.462000	0.41574	GCC		0.617	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		7	50	0	0	0	1	0	7	50				
SNX8	29886	broad.mit.edu	37	7	2290500	2290500	+	IGR	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:2290500C>T	ENST00000222990.3	-	0	4727				NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000343985.4_Missense_Mutation_p.P135L|NUDT1_ENST00000397048.1_Missense_Mutation_p.P135L|NUDT1_ENST00000397049.1_Missense_Mutation_p.P135L|NUDT1_ENST00000339737.2_Missense_Mutation_p.P112L|NUDT1_ENST00000397046.1_Missense_Mutation_p.P112L|NUDT1_ENST00000356714.1_Missense_Mutation_p.P112L	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GATCAGATCCCCTTCAAGGAC	0.512																																						ENST00000397049.1																			0				large_intestine(3)|lung(8)|urinary_tract(1)	12						c.(403-405)cCc>cTc	Modulation of nucleotide pools	nudix (nucleoside diphosphate linked moiety X)-type motif 1							178.0	185.0	183.0					7																	2290500		2203	4300	6503	SO:0001628	intergenic_variant	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2290500C>T	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2290500C>T						NUDT1_ENST00000397046.1_Missense_Mutation_p.P112L|NUDT1_ENST00000397048.1_Missense_Mutation_p.P135L|NUDT1_ENST00000343985.4_Missense_Mutation_p.P135L|NUDT1_ENST00000339737.2_Missense_Mutation_p.P112L|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000356714.1_Missense_Mutation_p.P112L	p.P135L	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	5	506	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	153			Nudix hydrolase.		A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.404C>T	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373904	0.82573	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25	5.22	5.22	0.72569	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	M	0.80982	2.52	0.80722	D	1	D	0.57571	0.98	P	0.60682	0.878	T	0.21449	-1.0245	10	0.07175	T	0.84	-14.4896	18.7802	0.91928	0.0:1.0:0.0:0.0	.	153	P36639	8ODP_HUMAN	L	112;135;112;135;135;112	ENSP00000349148:P112L;ENSP00000380242:P135L;ENSP00000380239:P112L;ENSP00000380241:P135L;ENSP00000339503:P135L;ENSP00000343439:P112L	ENSP00000343439:P112L	P	+	2	0	NUDT1	2257026	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	7.228000	0.78079	2.437000	0.82529	0.462000	0.41574	CCC		0.512	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			65	298	0	0	0	1	0	65	298				
STAT6	6778	broad.mit.edu	37	12	57500358	57500358	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:57500358G>C	ENST00000300134.3	-	6	809	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V	STAT6_ENST00000556155.1_Missense_Mutation_p.L162V|STAT6_ENST00000538913.2_Missense_Mutation_p.L52V|STAT6_ENST00000454075.3_Missense_Mutation_p.L162V|STAT6_ENST00000537215.2_Missense_Mutation_p.L52V|STAT6_ENST00000543873.2_Missense_Mutation_p.L162V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	162					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L162L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGCTGTGCAGAGACACTGAG	0.522																																						ENST00000300134.3																			1	Substitution - coding silent(1)	p.L162L(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(484-486)Ctg>Gtg		signal transducer and activator of transcription 6, interleukin-4 induced							120.0	118.0	119.0					12																	57500358		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57500358G>C	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.484C>G	12.37:g.57500358G>C	ENSP00000300134:p.Leu162Val					STAT6_ENST00000454075.3_Missense_Mutation_p.L162V|STAT6_ENST00000543873.2_Missense_Mutation_p.L162V|STAT6_ENST00000556155.1_Missense_Mutation_p.L162V|STAT6_ENST00000538913.2_Missense_Mutation_p.L52V|STAT6_ENST00000537215.2_Missense_Mutation_p.L52V	p.L162V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			6	809	-			162					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.484C>G	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	9.778	1.174612	0.21704	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	4.9	2.94	0.34122	STAT transcription factor, all-alpha (1);STAT transcription factor, coiled coil (1);	0.289856	0.27609	N	0.018615	T	0.46718	0.1407	L	0.27053	0.805	0.25760	N	0.984956	P;B	0.35468	0.503;0.425	B;B	0.42995	0.404;0.315	T	0.38112	-0.9676	10	0.46703	T	0.11	-3.8682	7.4328	0.27137	0.2118:0.0:0.7882:0.0	.	162;162	A8K4S9;P42226	.;STAT6_HUMAN	V	162;52;52;162;162;52;162;52;162	ENSP00000300134:L162V;ENSP00000445409:L52V;ENSP00000438451:L162V;ENSP00000451742:L162V;ENSP00000444530:L52V;ENSP00000401486:L162V	ENSP00000300134:L162V	L	-	1	2	STAT6	55786625	0.997000	0.39634	0.964000	0.40570	0.237000	0.25408	1.705000	0.37867	0.561000	0.29186	0.655000	0.94253	CTG		0.522	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		30	108	0	0	0	1	0	30	108				
GCNT2	2651	broad.mit.edu	37	6	10529410	10529410	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:10529410C>G	ENST00000379597.3	+	1	822	c.266C>G	c.(265-267)tCt>tGt	p.S89C	GCNT2_ENST00000495262.1_Missense_Mutation_p.S89C|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	89					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAAACACTCTCTGAAGAAGAG	0.428																																						ENST00000379597.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(265-267)tCt>tGt		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							125.0	129.0	128.0					6																	10529410		2203	4300	6503	SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529410C>G	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.266C>G	6.37:g.10529410C>G	ENSP00000368917:p.Ser89Cys					GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.S89C|GCNT2_ENST00000397423.2_Intron	p.S89C			Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	822	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	89						Missense_Mutation	SNP	ENST00000379597.3	37	c.266C>G	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565340	0.65651	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.14266	2.52;2.52	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.03240	-1.1057	10	0.87932	D	0	-0.0668	18.9125	0.92491	0.0:1.0:0.0:0.0	.	89;88	Q8N0V5;Q08M29	GNT2A_HUMAN;.	C	89	ENSP00000419411:S89C;ENSP00000368917:S89C	ENSP00000368917:S89C	S	+	2	0	GCNT2	10637396	0.971000	0.33674	0.623000	0.29173	0.605000	0.37080	5.627000	0.67784	2.563000	0.86464	0.555000	0.69702	TCT		0.428	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		26	119	0	0	0	1	0	26	119				
PAQR7	164091	broad.mit.edu	37	1	26190204	26190204	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:26190204A>T	ENST00000374296.3	-	2	793	c.127T>A	c.(127-129)Tgg>Agg	p.W43R	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	43					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		TACGGCTTCCAGAAGAGCGGC	0.617																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(127-129)Tgg>Agg		progestin and adipoQ receptor family member VII							56.0	58.0	58.0					1																	26190204		2203	4299	6502	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26190204A>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.127T>A	1.37:g.26190204A>T	ENSP00000363414:p.Trp43Arg						p.W43R	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	793	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	43					A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.127T>A	CCDS267.1	.	.	.	.	.	.	.	.	.	.	A	2.265	-0.368299	0.05069	.	.	ENSG00000182749	ENST00000374296	T	0.20200	2.09	4.75	4.75	0.60458	.	0.151788	0.48286	D	0.000191	T	0.08492	0.0211	N	0.11724	0.165	0.44380	D	0.997288	B	0.18610	0.029	B	0.12837	0.008	T	0.17592	-1.0364	10	0.02654	T	1	-8.8639	6.0221	0.19634	0.8192:0.0:0.1808:0.0	.	43	Q86WK9	MPRA_HUMAN	R	43	ENSP00000363414:W43R	ENSP00000363414:W43R	W	-	1	0	PAQR7	26062791	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	1.743000	0.38258	2.116000	0.64780	0.533000	0.62120	TGG		0.617	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		32	128	0	0	0	1	0	32	128				
POTEC	388468	broad.mit.edu	37	18	14543057	14543057	+	Missense_Mutation	SNP	T	T	G	rs532182918|rs9807633	byFrequency	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:14543057T>G	ENST00000358970.5	-	1	88	c.89A>C	c.(88-90)cAc>cCc	p.H30P	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	30			H -> P (in dbSNP:rs9807633).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GGGGAAGCGGTGGTGAAACCA	0.537													.|||	1443	0.288139	0.2776	0.2565	5008	,	,		19800	0.4544		0.1521	False		,,,				2504	0.2935					ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(88-90)cAc>cCc		POTE ankyrin domain family, member C							127.0	109.0	114.0					18																	14543057		692	1591	2283	SO:0001583	missense	388468							g.chr18:14543057T>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.89A>C	18.37:g.14543057T>G	ENSP00000351856:p.His30Pro					POTEC_ENST00000389891.4_5'UTR	p.H30P	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	88	-			30		H -> P (in dbSNP:rs9807633).				Missense_Mutation	SNP	ENST00000358970.5	37	c.89A>C	CCDS45835.1	630	0.28846153846153844	139	0.28252032520325204	94	0.2596685082872928	279	0.48776223776223776	118	0.15567282321899736	t	9.187	1.025066	0.19433	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.30182	1.54	0.722	-1.44	0.08856	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	D	0.57899	0.981	B	0.44044	0.439	T	0.45614	-0.9249	7	0.72032	D	0.01	.	.	.	.	rs9807633;rs57776886;rs9807633	30	B2RU33	POTEC_HUMAN	P	30	ENSP00000351856:H30P	ENSP00000351856:H30P	H	-	2	0	POTEC	14533057	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.584000	0.05800	-0.528000	0.06366	0.156000	0.16432	CAC		0.537	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		7	211	0	0	0	1	0	7	211				
LRRTM4	80059	broad.mit.edu	37	2	77745758	77745758	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:77745758C>T	ENST00000409093.1	-	3	1573	c.1237G>A	c.(1237-1239)Gca>Aca	p.A413T	LRRTM4_ENST00000409088.3_Missense_Mutation_p.A413T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A413T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A414T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A414T			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	413					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCTTGCTCTGCGCCAGGAATC	0.478																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1237-1239)Gca>Aca		leucine rich repeat transmembrane neuronal 4							105.0	104.0	104.0					2																	77745758		1902	4122	6024	SO:0001583	missense	80059					integral to membrane		g.chr2:77745758C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1237G>A	2.37:g.77745758C>T	ENSP00000386357:p.Ala413Thr					LRRTM4_ENST00000409093.1_Missense_Mutation_p.A413T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A414T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A414T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A413T	p.A413T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1651	-			413					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1237G>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	c	2.069	-0.413509	0.04799	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.51071	0.72;0.74;0.74;0.8;0.81	5.68	-2.85	0.05734	.	0.579236	0.18306	N	0.145247	T	0.23572	0.0570	N	0.19112	0.55	0.25065	N	0.991036	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.28870	-1.0030	10	0.10377	T	0.69	.	8.7636	0.34689	0.0:0.4084:0.1057:0.4859	.	414;413;413	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	T	414;413;413;413;414	ENSP00000387228:A414T;ENSP00000387297:A413T;ENSP00000386357:A413T;ENSP00000386236:A413T;ENSP00000386286:A414T	ENSP00000386236:A413T	A	-	1	0	LRRTM4	77599266	0.260000	0.24053	0.983000	0.44433	0.822000	0.46500	-0.416000	0.07097	-0.383000	0.07858	-2.226000	0.00293	GCA		0.478	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		15	56	0	0	0	1	0	15	56				
KDM4D	55693	broad.mit.edu	37	11	94732029	94732029	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:94732029T>G	ENST00000335080.5	+	3	2325	c.1493T>G	c.(1492-1494)aTg>aGg	p.M498R	KDM4D_ENST00000536741.1_Missense_Mutation_p.M498R	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	498					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGGCTTTGATGGACAAGCCT	0.612																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1492-1494)aTg>aGg		lysine (K)-specific demethylase 4D							26.0	26.0	26.0					11																	94732029		2199	4297	6496	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94732029T>G	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1493T>G	11.37:g.94732029T>G	ENSP00000334181:p.Met498Arg					KDM4D_ENST00000536741.1_Missense_Mutation_p.M498R	p.M498R	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	2325	+			498					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.1493T>G	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872524	0.33069	.	.	ENSG00000186280	ENST00000335080	T	0.30714	1.52	3.38	-0.302	0.12796	.	1.597480	0.04665	U	0.409613	T	0.19287	0.0463	L	0.27053	0.805	0.09310	N	1	P	0.38335	0.627	B	0.32090	0.14	T	0.21484	-1.0244	10	0.46703	T	0.11	-3.6851	5.8767	0.18832	0.0:0.3719:0.0:0.6281	.	498	Q6B0I6	KDM4D_HUMAN	R	498	ENSP00000334181:M498R	ENSP00000334181:M498R	M	+	2	0	KDM4D	94371677	0.001000	0.12720	0.000000	0.03702	0.390000	0.30446	0.111000	0.15458	-0.064000	0.13043	0.459000	0.35465	ATG		0.612	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		6	55	0	0	0	1	0	6	55				
TECR	9524	broad.mit.edu	37	19	14640495	14640495	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:14640495C>A	ENST00000215567.5	+	0	124				TECR_ENST00000600083.1_De_novo_Start_InFrame|TECR_ENST00000436007.2_De_novo_Start_OutOfFrame|MIR639_ENST00000384974.1_RNA|TECR_ENST00000596073.1_De_novo_Start_InFrame|DNAJB1_ENST00000396969.4_5'Flank	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase						cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						CAGTAGCCGCCGTGGGAGGGA	0.622																																						ENST00000436007.2																			0				endometrium(1)|large_intestine(1)|ovary(1)	3								trans-2,3-enoyl-CoA reductase							44.0	49.0	47.0					19																	14640495		2201	4300	6501			9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14640495C>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.-14C>A	19.37:g.14640495C>A						TECR_ENST00000596073.1_De_novo_Start_InFrame|TECR_ENST00000600083.1_De_novo_Start_InFrame|TECR_ENST00000215567.5_De_novo_Start_OutOfFrame				Q9NZ01	TECR_HUMAN			0	89	+								B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Translation_Start_Site	SNP	ENST00000215567.5	37		CCDS12313.1																																																																																				0.622	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		15	82	1	0	1.02788e-11	1	1.21143e-11	15	82				
UCP1	7350	broad.mit.edu	37	4	141484647	141484647	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:141484647A>C	ENST00000262999.3	-	3	426	c.351T>G	c.(349-351)atT>atG	p.I117M		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	117					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GACCAGCTAAAATCTTGCTTC	0.398																																						ENST00000262999.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16						c.(349-351)atT>atG		uncoupling protein 1 (mitochondrial, proton carrier)							83.0	74.0	77.0					4																	141484647		2203	4300	6503	SO:0001583	missense	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141484647A>C	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.351T>G	4.37:g.141484647A>C	ENSP00000262999:p.Ile117Met						p.I117M	NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN			3	426	-	all_hematologic(180;0.162)		117					Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	c.351T>G	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285859	0.23478	.	.	ENSG00000109424	ENST00000262999	T	0.79940	-1.32	5.44	2.82	0.32997	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	L	0.32530	0.975	0.39055	D	0.960409	P;P	0.51147	0.942;0.939	P;P	0.57101	0.813;0.776	T	0.73694	-0.3902	10	0.45353	T	0.12	.	4.4943	0.11830	0.2492:0.0:0.597:0.1537	.	116;117	Q4KMT7;P25874	.;UCP1_HUMAN	M	117	ENSP00000262999:I117M	ENSP00000262999:I117M	I	-	3	3	UCP1	141704097	1.000000	0.71417	0.368000	0.25939	0.031000	0.12232	2.027000	0.41078	0.290000	0.22444	-0.790000	0.03334	ATT		0.398	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			14	69	0	0	0	1	0	14	69				
PBRM1	55193	broad.mit.edu	37	3	52712550	52712550	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:52712550G>A	ENST00000296302.7	-	2	203	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F	PBRM1_ENST00000409057.1_Missense_Mutation_p.L68F|PBRM1_ENST00000356770.4_Missense_Mutation_p.L68F|PBRM1_ENST00000394830.3_Missense_Mutation_p.L68F|PBRM1_ENST00000409114.3_Missense_Mutation_p.L68F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L68F|PBRM1_ENST00000410007.1_Missense_Mutation_p.L68F|PBRM1_ENST00000337303.4_Missense_Mutation_p.L68F			Q86U86	PB1_HUMAN	polybromo 1	68	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGCTCACAGAGAAGTCTGCCC	0.433			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(202-204)Ctc>Ttc		polybromo 1							138.0	126.0	130.0					3																	52712550		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52712550G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.202C>T	3.37:g.52712550G>A	ENSP00000296302:p.Leu68Phe					PBRM1_ENST00000394830.3_Missense_Mutation_p.L68F|PBRM1_ENST00000296302.7_Missense_Mutation_p.L68F|PBRM1_ENST00000337303.4_Missense_Mutation_p.L68F|PBRM1_ENST00000410007.1_Missense_Mutation_p.L68F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L68F|PBRM1_ENST00000409057.1_Missense_Mutation_p.L68F|PBRM1_ENST00000409114.3_Missense_Mutation_p.L68F	p.L68F			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	2	204	-			68			Bromo 1.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.202C>T		.	.	.	.	.	.	.	.	.	.	G	25.1	4.598932	0.87055	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;0.38	5.2	5.2	0.72013	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.975;0.995;0.999;0.997;0.97;0.987;0.999;0.999	T	0.77351	-0.2620	10	0.87932	D	0	-1.2018	18.7359	0.91755	0.0:0.0:1.0:0.0	.	68;68;68;68;68;68;68;68	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	F	68;68;68;68;68;68;68;68;68;12;68;68;68;68	ENSP00000349213:L68F;ENSP00000378307:L68F;ENSP00000296302:L68F;ENSP00000338302:L68F;ENSP00000386593:L68F;ENSP00000386529:L68F;ENSP00000386643:L68F;ENSP00000386601:L68F;ENSP00000387775:L68F;ENSP00000397662:L12F;ENSP00000409939:L68F;ENSP00000389390:L68F;ENSP00000412401:L68F;ENSP00000416851:L68F	ENSP00000296302:L68F	L	-	1	0	PBRM1	52687590	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.101000	0.57769	2.432000	0.82394	0.460000	0.39030	CTC		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		17	58	0	0	0	1	0	17	58				
ZNF404	342908	broad.mit.edu	37	19	44377679	44377679	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:44377679G>C	ENST00000587539.1	-	3	686	c.687C>G	c.(685-687)caC>caG	p.H229Q	ZNF404_ENST00000324394.6_Missense_Mutation_p.H227Q	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GTTCTGTAAGGTGAGAATGAC	0.373																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(685-687)caC>caG		zinc finger protein 404							112.0	113.0	113.0					19																	44377679		2100	4258	6358	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377679G>C	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.687C>G	19.37:g.44377679G>C	ENSP00000466051:p.His229Gln					ZNF404_ENST00000324394.6_Missense_Mutation_p.H227Q	p.H229Q	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	686	-		Prostate(69;0.0352)	229					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.687C>G	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.675993	0.00104	.	.	ENSG00000176222	ENST00000324394	T	0.18657	2.2	2.56	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16300	0.0392	L	0.48986	1.54	0.09310	N	1	B	0.17852	0.024	B	0.20384	0.029	T	0.26395	-1.0104	9	0.18710	T	0.47	.	5.2853	0.15698	0.1368:0.2149:0.6483:0.0	.	229	Q494X3	ZN404_HUMAN	Q	227	ENSP00000319479:H227Q	ENSP00000319479:H227Q	H	-	3	2	ZNF404	49069519	0.002000	0.14202	0.914000	0.36105	0.081000	0.17604	-0.037000	0.12164	1.444000	0.47605	0.404000	0.27445	CAC		0.373	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		19	84	0	0	0	1	0	19	84				
NRROS	375387	broad.mit.edu	37	3	196388110	196388110	+	Silent	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:196388110C>T	ENST00000328557.4	+	3	1799	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	532					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CGTTGGACTTCTCTGGGTTTG	0.577																																						ENST00000328557.4																			0											c.(1594-1596)ttC>ttT		negative regulator of reactive oxygen species							125.0	124.0	124.0					3																	196388110		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196388110C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1596C>T	3.37:g.196388110C>T							p.F532F	NM_198565.1	NP_940967.1					3	1799	+									Silent	SNP	ENST00000328557.4	37	c.1596C>T	CCDS3319.1																																																																																				0.577	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		55	303	0	0	0	1	0	55	303				
AXIN1	8312	broad.mit.edu	37	16	396885	396885	+	Silent	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:396885C>A	ENST00000262320.3	-	2	512	c.141G>T	c.(139-141)ggG>ggT	p.G47G	AXIN1_ENST00000354866.3_Silent_p.G47G|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	47					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAACACCTTTCCCGGAGCAGA	0.627											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(139-141)ggG>ggT		axin 1							44.0	44.0	44.0					16																	396885		2202	4300	6502	SO:0001819	synonymous_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:396885C>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.141G>T	16.37:g.396885C>A			OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	AXIN1_ENST00000354866.3_Silent_p.G47G|AXIN1_ENST00000481769.1_Intron	p.G47G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			2	512	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	47					Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.141G>T	CCDS10405.1																																																																																				0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			14	79	1	0	1.3612e-06	1	1.47762e-06	14	79				
PTCH2	8643	broad.mit.edu	37	1	45288991	45288991	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:45288991G>A	ENST00000372192.3	-	20	3311	c.3181C>T	c.(3181-3183)Ccc>Tcc	p.P1061S	PTCH2_ENST00000447098.2_Missense_Mutation_p.P1061S	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1061					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCGGTCACGGGGGCAAATGTG	0.617									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3181-3183)Ccc>Tcc		patched 2							63.0	63.0	63.0					1																	45288991		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288991G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3181C>T	1.37:g.45288991G>A	ENSP00000361266:p.Pro1061Ser					PTCH2_ENST00000372192.3_Missense_Mutation_p.P1061S	p.P1061S	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			20	3192	-	Acute lymphoblastic leukemia(166;0.155)		1061					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.3181C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	g	18.72	3.684814	0.68157	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.97256	-4.31;-4.31	4.32	4.32	0.51571	.	0.000000	0.48286	D	0.000193	D	0.97158	0.9071	L	0.37466	1.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96599	0.9443	9	.	.	.	-14.2049	16.9784	0.86320	0.0:0.0:1.0:0.0	.	1061;1061	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	S	1061	ENSP00000389703:P1061S;ENSP00000361266:P1061S	.	P	-	1	0	PTCH2	45061578	1.000000	0.71417	0.886000	0.34754	0.320000	0.28249	9.087000	0.94110	2.398000	0.81561	0.479000	0.44913	CCC		0.617	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		29	85	0	0	0	1	0	29	85				
LRRC8A	56262	broad.mit.edu	37	9	131670178	131670178	+	Silent	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:131670178G>A	ENST00000259324.5	+	3	1258	c.735G>A	c.(733-735)gaG>gaA	p.E245E	LRRC8A_ENST00000372599.3_Silent_p.E245E|LRRC8A_ENST00000372600.4_Silent_p.E245E	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	245					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CGCTGTTTGAGAAGGTGAAGA	0.572																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(733-735)gaG>gaA		leucine rich repeat containing 8 family, member A							153.0	143.0	147.0					9																	131670178		2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670178G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.735G>A	9.37:g.131670178G>A						LRRC8A_ENST00000372600.4_Silent_p.E245E|LRRC8A_ENST00000372599.3_Silent_p.E245E	p.E245E	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1258	+			245					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.735G>A	CCDS35155.1																																																																																				0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		23	129	0	0	0	1	0	23	129				
PEG3	5178	broad.mit.edu	37	19	57326712	57326712	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:57326712C>A	ENST00000326441.9	-	10	3461	c.3098G>T	c.(3097-3099)tGt>tTt	p.C1033F	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C907F|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C1033F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C909F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1033					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.C1033F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAGTCCTTACATTTGTTCCG	0.468																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.C1033F(2)	large_intestine(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3097-3099)tGt>tTt		paternally expressed 3							105.0	94.0	98.0					19																	57326712		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326712C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3098G>T	19.37:g.57326712C>A	ENSP00000326581:p.Cys1033Phe					ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C1033F|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C907F|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C909F	p.C1033F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3461	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1033					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3098G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0.165	-1.077016	0.01903	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	4.09	-5.05	0.02955	.	0.618109	0.14716	N	0.302591	T	0.01254	0.0041	N	0.12182	0.205	.	.	.	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.41538	-0.9503	9	0.41790	T	0.15	.	0.6012	0.00745	0.3089:0.3066:0.1388:0.2457	.	909;1033;968	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	F	1033	ENSP00000326581:C1033F;ENSP00000403051:C1033F	ENSP00000326581:C1033F	C	-	2	0	ZIM2	62018524	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.104000	0.15313	-1.319000	0.02286	-3.025000	0.00073	TGT		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			22	54	1	0	7.45023e-12	1	8.84379e-12	22	54				
SMARCAD1	56916	broad.mit.edu	37	4	95206114	95206114	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:95206114A>T	ENST00000354268.4	+	23	2986	c.2913A>T	c.(2911-2913)gaA>gaT	p.E971D	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.E541D|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E973D			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	971	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTTTAGAGAAGTACTAGTTA	0.264																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2911-2913)gaA>gaT		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							54.0	61.0	59.0					4																	95206114		2202	4298	6500	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95206114A>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2913A>T	4.37:g.95206114A>T	ENSP00000346217:p.Glu971Asp					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E973D|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.E541D	p.E971D			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	23	2986	+			971			Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.2913A>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522679	0.27211	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.49305	D	0.000148	T	0.48874	0.1524	N	0.01091	-1.02	0.46113	D	0.998871	B;B	0.24483	0.063;0.104	B;B	0.27887	0.039;0.084	T	0.52268	-0.8598	10	0.28530	T	0.3	-12.1067	15.7282	0.77780	1.0:0.0:0.0:0.0	.	971;973	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	D	973;973;971;541	ENSP00000351947:E973D;ENSP00000415576:E973D;ENSP00000346217:E971D;ENSP00000423286:E541D	ENSP00000346217:E971D	E	+	3	2	SMARCAD1	95425137	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.594000	0.46189	2.137000	0.66172	0.477000	0.44152	GAA		0.264	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		6	37	0	0	0	1	0	6	37				
NIPBL	25836	broad.mit.edu	37	5	36976181	36976181	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:36976181C>T	ENST00000282516.8	+	9	1671	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	NIPBL_ENST00000448238.2_Missense_Mutation_p.P391L|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	391					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATGATATTCCTTTTAATGTG	0.398																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(1171-1173)cCt>cTt		Nipped-B homolog (Drosophila)							90.0	96.0	94.0					5																	36976181		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976181C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1172C>T	5.37:g.36976181C>T	ENSP00000282516:p.Pro391Leu					NIPBL_ENST00000448238.2_Missense_Mutation_p.P391L|NIPBL_ENST00000504430.1_3'UTR	p.P391L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1671	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		391					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1172C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690994	0.48097	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92911	-3.13;-3.13	5.45	5.45	0.79879	.	0.210296	0.41605	D	0.000845	D	0.86590	0.5969	N	0.14661	0.345	0.45015	D	0.998038	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.81551	-0.0881	10	0.62326	D	0.03	.	19.2741	0.94023	0.0:1.0:0.0:0.0	.	391;391	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	L	391	ENSP00000282516:P391L;ENSP00000406266:P391L	ENSP00000282516:P391L	P	+	2	0	NIPBL	37011938	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.268000	0.43338	2.558000	0.86282	0.467000	0.42956	CCT		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		22	156	0	0	0	1	0	22	156				
BTBD8	284697	broad.mit.edu	37	1	92613293	92613293	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:92613293delA	ENST00000342818.3	+	9	1308	c.1072delA	c.(1072-1074)atafs	p.I358fs	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	358						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTTTGCAAATATACCTCCTGA	0.308																																						ENST00000342818.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(1072-1074)tafs		BTB (POZ) domain containing 8							109.0	112.0	111.0					1																	92613293		2202	4300	6502	SO:0001589	frameshift_variant	284697					nucleus		g.chr1:92613293delA	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.1072delA	1.37:g.92613293delA	ENSP00000343686:p.Ile358fs					BTBD8_ENST00000540648.1_3'UTR	p.I358fs	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	9	1308	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	358					Q6V9S5	Frame_Shift_Del	DEL	ENST00000342818.3	37	c.1072delA	CCDS737.1																																																																																				0.308	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		8	21						8	21	---	---	---	---
UCK2	7371	broad.mit.edu	37	1	165859553	165859554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:165859553_165859554insG	ENST00000367879.4	+	2	515_516	c.212_213insG	c.(211-216)gagcagfs	p.Q72fs	UCK2_ENST00000372212.4_Frame_Shift_Ins_p.Q72fs	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	72					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTACCTCGGAGCAGAAGGCCA	0.554																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(211-213)gcafs		uridine-cytidine kinase 2																																				SO:0001589	frameshift_variant	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165859553_165859554insG	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.213dupG	1.37:g.165859554_165859554dupG	ENSP00000356853:p.Gln72fs					UCK2_ENST00000372212.4_Frame_Shift_Ins_p.A71fs	p.A71fs	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			2	515_516	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		71					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Frame_Shift_Ins	INS	ENST00000367879.4	37	c.212_213insG	CCDS1252.1																																																																																				0.554	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		21	83						21	83	---	---	---	---
TCF7L1	83439	broad.mit.edu	37	2	85536400	85536401	+	Frame_Shift_Ins	INS	-	-	CAGC			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:85536400_85536401insCAGC	ENST00000282111.3	+	12	1857_1858	c.1582_1583insCAGC	c.(1582-1584)gcafs	p.A528fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	528					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						GGCTAAGGCTGCAGCCTCCTCC	0.688																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1582-1584)agcfs		transcription factor 7-like 1 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536400_85536401insCAGC	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1583_1586dupCAGC	2.37:g.85536401_85536404dupCAGC	ENSP00000282111:p.Ala528fs						p.S528fs	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			12	1857_1858	+			528					Q53R97|Q6PD70|Q9NP00	Frame_Shift_Ins	INS	ENST00000282111.3	37	c.1582_1583insCAGC	CCDS1971.1																																																																																				0.688	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		14	98						14	98	---	---	---	---
DAG1	1605	broad.mit.edu	37	3	49569008	49569018	+	Frame_Shift_Del	DEL	CTCCTCCAGTC	CTCCTCCAGTC	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:49569008_49569018delCTCCTCCAGTC	ENST00000539901.1	+	3	1622_1632	c.1064_1074delCTCCTCCAGTC	c.(1063-1074)gctcctccagtcfs	p.APPV355fs	DAG1_ENST00000308775.2_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000545947.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000541308.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000538711.1_Frame_Shift_Del_p.APPV355fs	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	355	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGACCATGGCTCCTCCAGTCAGGGATCCTG	0.611																																						ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(1063-1074)gfs		dystroglycan 1 (dystrophin-associated glycoprotein 1)																																				SO:0001589	frameshift_variant	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49569008_49569018delCTCCTCCAGTC	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1064_1074delCTCCTCCAGTC	3.37:g.49569008_49569018delCTCCTCCAGTC	ENSP00000439334:p.Ala355fs					DAG1_ENST00000539901.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000308775.2_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000541308.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000538711.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.APPV355fs	p.APPV355fs	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	1786_1796	+			355			Mucin-like domain.|Required for laminin recognition.|Thr-rich.		A8K6M7|Q969J9	Frame_Shift_Del	DEL	ENST00000539901.1	37	c.1064_1074delCTCCTCCAGTC	CCDS2799.1																																																																																				0.611	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			44	155						44	155	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97660083	97660083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:97660083delG	ENST00000182096.4	+	17	2817	c.2753delG	c.(2752-2754)tgcfs	p.C918fs	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Frame_Shift_Del_p.C125fs	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2866							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ACATCTGTGTGCATTTCTCCC	0.458																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2752-2754)tcfs		beta-gamma crystallin domain containing 3							125.0	118.0	120.0					3																	97660083		1880	4103	5983	SO:0001589	frameshift_variant	131544							g.chr3:97660083delG			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2753delG	3.37:g.97660083delG	ENSP00000182096:p.Cys918fs					CRYBG3_ENST00000389622.2_Frame_Shift_Del_p.C125fs|CRYBG3_ENST00000485253.1_3'UTR	p.C918fs	NM_153605.3	NP_705833.3					17	2817	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Frame_Shift_Del	DEL	ENST00000182096.4	37	c.2753delG																																																																																					0.458	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		27	105						27	105	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						TCCTTTGGGGatatatatatat	0.302																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														5387							g.chr7:75145720_75145721delAT	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75145730_75145731delAT								NR_028059.1						0	618	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.302	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		2	4						2	4	---	---	---	---
MARK2	2011	broad.mit.edu	37	11	63668492	63668494	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:63668492_63668494delACA	ENST00000509502.2	+	11	1416_1418	c.953_955delACA	c.(952-957)tacaac>tac	p.N319del	MARK2_ENST00000377810.3_In_Frame_Del_p.N319del|MARK2_ENST00000425897.2_In_Frame_Del_p.N319del|MARK2_ENST00000408948.3_In_Frame_Del_p.N319del|MARK2_ENST00000315032.8_In_Frame_Del_p.N352del|MARK2_ENST00000508192.1_In_Frame_Del_p.N352del|MARK2_ENST00000361128.5_In_Frame_Del_p.N352del|MARK2_ENST00000377809.4_In_Frame_Del_p.N352del|MARK2_ENST00000413835.2_In_Frame_Del_p.N352del|MARK2_ENST00000402010.2_In_Frame_Del_p.N352del|MARK2_ENST00000502399.3_In_Frame_Del_p.N352del|MARK2_ENST00000513765.2_In_Frame_Del_p.N319del|MARK2_ENST00000350490.7_In_Frame_Del_p.N352del	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCAGAGATACAACGAGGTGAT	0.576																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1051-1056)tac>t		MAP/microtubule affinity-regulating kinase 2																																				SO:0001651	inframe_deletion	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63668492_63668494delACA	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.953_955delACA	11.37:g.63668492_63668494delACA	ENSP00000423974:p.Asn319del					MARK2_ENST00000513765.2_In_Frame_Del_p.YN318del|MARK2_ENST00000315032.8_In_Frame_Del_p.YN351del|MARK2_ENST00000425897.2_In_Frame_Del_p.YN318del|MARK2_ENST00000377809.4_In_Frame_Del_p.YN351del|MARK2_ENST00000509502.2_In_Frame_Del_p.YN318del|MARK2_ENST00000502399.3_In_Frame_Del_p.YN351del|MARK2_ENST00000350490.7_In_Frame_Del_p.YN351del|MARK2_ENST00000361128.5_In_Frame_Del_p.YN351del|MARK2_ENST00000408948.3_In_Frame_Del_p.YN318del|MARK2_ENST00000377810.3_In_Frame_Del_p.YN318del|MARK2_ENST00000508192.1_In_Frame_Del_p.YN351del|MARK2_ENST00000413835.2_In_Frame_Del_p.YN351del	p.YN351del	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			11	1631_1633	+			351			UBA.			In_Frame_Del	DEL	ENST00000509502.2	37	c.1052_1054delACA	CCDS41665.1																																																																																				0.576	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		19	128						19	128	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		12	241						12	241	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40494877	40494878	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr15:40494877_40494878delTG	ENST00000287598.6	+	14	1911_1912	c.1716_1717delTG	c.(1714-1719)gatgtgfs	p.V573fs	BUB1B_ENST00000412359.3_Frame_Shift_Del_p.V587fs	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	573					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAAATGAAGATGTGTCTCCAGA	0.406			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(1714-1719)gatgfs		BUB1 mitotic checkpoint serine/threonine kinase B																																				SO:0001589	frameshift_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40494877_40494878delTG	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1716_1717delTG	15.37:g.40494879_40494880delTG	ENSP00000287598:p.Val573fs					BUB1B_ENST00000412359.3_Frame_Shift_Del_p.DV586fs	p.DV572fs	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	14	1911_1912	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	572					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Frame_Shift_Del	DEL	ENST00000287598.6	37	c.1716_1717delTG	CCDS10053.1																																																																																				0.406	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			23	122						23	122	---	---	---	---
PFN1	5216	broad.mit.edu	37	17	4849956	4849957	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:4849956_4849957insG	ENST00000225655.5	-	2	910_911	c.291_292insC	c.(289-294)cccaccfs	p.T98fs	PFN1_ENST00000574872.1_Frame_Shift_Ins_p.T62fs	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	98					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACATTGAAGGTGGGGGCCCCAC	0.515																																						ENST00000225655.5																			0				NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(289-294)ccccttfs		profilin 1																																				SO:0001589	frameshift_variant	5216				actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	g.chr17:4849956_4849957insG	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.292dupC	17.37:g.4849961_4849961dupG	ENSP00000225655:p.Thr98fs					PFN1_ENST00000574872.1_Frame_Shift_Ins_p.L62fs	p.L98fs	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN			2	910_911	-			98					Q53Y44	Frame_Shift_Ins	INS	ENST00000225655.5	37	c.291_292insC	CCDS11061.1																																																																																				0.515	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022		38	160						38	160	---	---	---	---
FZR1	51343	broad.mit.edu	37	19	3526180	3526181	+	Splice_Site	INS	-	-	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:3526180_3526181insG	ENST00000395095.3	+	3	258_259	c.258_259insG	c.(259-261)gac>Ggac	p.D87fs	FZR1_ENST00000313639.8_Splice_Site_p.D87fs|FZR1_ENST00000441788.2_Splice_Site_p.D87fs	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	87					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAACGGCAAAGGTTAGGGTCC	0.653																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.e4+1		fizzy/cell division cycle 20 related 1 (Drosophila)																																				SO:0001630	splice_region_variant	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3526180_3526181insG	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.259+1->G	19.37:g.3526182_3526182dupG						FZR1_ENST00000313639.8_Splice_Site_p.R87_splice|FZR1_ENST00000395095.3_Splice_Site_p.R87_splice	p.R87_splice	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	4	494_495	+			87					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Splice_Site	INS	ENST00000395095.3	37	c.259_splice	CCDS45916.1																																																																																				0.653	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263	Frame_Shift_Ins	11	80						11	80	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		7	200						7	200	---	---	---	---
CENPM	79019	broad.mit.edu	37	22	42335078	42335078	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr22:42335078delG	ENST00000215980.5	-	6	612	c.525delC	c.(523-525)cccfs	p.P175fs	CENPM_ENST00000472374.2_Frame_Shift_Del_p.P53fs|CENPM_ENST00000402338.1_Frame_Shift_Del_p.P141fs|CENPM_ENST00000407253.3_3'UTR|CENPM_ENST00000404067.1_3'UTR	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	175					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CCTCCAGGGAGGGGCCCTCAG	0.632																																						ENST00000402338.1																			0				kidney(1)|large_intestine(1)|prostate(1)	3						c.(421-423)ccfs		centromere protein M							35.0	36.0	36.0					22																	42335078		2202	4300	6502	SO:0001589	frameshift_variant	79019				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus		g.chr22:42335078delG	BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"""chromosome 22 open reading frame 18"""	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.525delC	22.37:g.42335078delG	ENSP00000215980:p.Pro175fs					CENPM_ENST00000215980.5_Frame_Shift_Del_p.P175fs|CENPM_ENST00000404067.1_3'UTR|CENPM_ENST00000472374.2_Frame_Shift_Del_p.P53fs|CENPM_ENST00000407253.3_3'UTR	p.P141fs			Q9NSP4	CENPM_HUMAN			5	664	-			175					A7LM22|B1AHQ9|Q6I9W3	Frame_Shift_Del	DEL	ENST00000215980.5	37	c.423delC	CCDS14025.1																																																																																				0.632	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053		11	79						11	79	---	---	---	---
