#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
CSMD2	114784	broad.mit.edu	37	1	34204867	34204867	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:34204867G>C	ENST00000373381.4	-	15	2418	c.2242C>G	c.(2242-2244)Cag>Gag	p.Q748E		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	708	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGCCCAGCTGGAGGCTGTCC	0.572																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2242-2244)Cag>Gag		CUB and Sushi multiple domains 2							88.0	88.0	88.0					1																	34204867		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34204867G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2242C>G	1.37:g.34204867G>C	ENSP00000362479:p.Gln748Glu						p.Q748E	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			15	2418	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	708			Sushi 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2242C>G		.	.	.	.	.	.	.	.	.	.	G	17.21	3.331550	0.60853	.	.	ENSG00000121904	ENST00000373381	T	0.64085	-0.08	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	L	0.42632	1.34	0.80722	D	1	D;P	0.52996	0.957;0.892	P;P	0.62885	0.877;0.908	T	0.59198	-0.7499	10	0.02654	T	1	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	708;748	Q7Z408;E7EUA6	CSMD2_HUMAN;.	E	748	ENSP00000362479:Q748E	ENSP00000241312:Q708E	Q	-	1	0	CSMD2	33977454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CAG		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		32	101	0	0	0	0.788014	0	32	101				
CFH	3075	broad.mit.edu	37	1	196684815	196684815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:196684815G>T	ENST00000367429.4	+	11	1852	c.1612G>T	c.(1612-1614)Gat>Tat	p.D538Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	538	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAATGCCATGATGGTTATGA	0.378																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1612-1614)Gat>Tat		complement factor H							252.0	236.0	241.0					1																	196684815		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684815G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1612G>T	1.37:g.196684815G>T	ENSP00000356399:p.Asp538Tyr						p.D538Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			11	1852	+			538			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1612G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120439	0.37436	.	.	ENSG00000000971	ENST00000367429	T	0.65732	-0.17	5.65	1.48	0.22813	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.73063	0.3539	M	0.78916	2.43	0.09310	N	1	D	0.63046	0.992	D	0.63877	0.919	T	0.60234	-0.7303	9	0.56958	D	0.05	.	6.0571	0.19816	0.1638:0.2915:0.5447:0.0	.	538	P08603	CFAH_HUMAN	Y	538	ENSP00000356399:D538Y	ENSP00000356399:D538Y	D	+	1	0	CFH	194951438	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.256000	0.08757	0.018000	0.15052	0.655000	0.94253	GAT		0.378	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		27	112	1	0	3.65163e-15	0.706142	4.56454e-15	27	112				
PLEKHG3	26030	broad.mit.edu	37	14	65208842	65208842	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:65208842C>T	ENST00000394691.1	+	16	2754	c.2607C>T	c.(2605-2607)tcC>tcT	p.S869S	PLEKHG3_ENST00000484731.2_Silent_p.S374S|PLEKHG3_ENST00000247226.7_Silent_p.S813S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Silent_p.S402S			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	869							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGAAAGCTCCTCTCCCACTG	0.652																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2437-2439)tcC>tcT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							20.0	26.0	24.0					14																	65208842		2202	4298	6500	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208842C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2607C>T	14.37:g.65208842C>T						PLEKHG3_ENST00000394691.1_Silent_p.S869S|PLEKHG3_ENST00000471182.2_Silent_p.S402S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Silent_p.S374S	p.S813S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	2747	+			869					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.2439C>T																																																																																					0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		22	18	0	0	0	0.608945	0	22	18				
ZNF536	9745	broad.mit.edu	37	19	31039034	31039034	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:31039034C>A	ENST00000355537.3	+	4	2655	c.2508C>A	c.(2506-2508)gaC>gaA	p.D836E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	836					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGGCCAGACATCCTGAGGG	0.582																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2506-2508)gaC>gaA		zinc finger protein 536							68.0	77.0	74.0					19																	31039034		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039034C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2508C>A	19.37:g.31039034C>A	ENSP00000347730:p.Asp836Glu						p.D836E	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2655	+	Esophageal squamous(110;0.0834)		836					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2508C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.443	0.851197	0.17034	.	.	ENSG00000198597	ENST00000355537	T	0.08458	3.09	5.98	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.05640	0.0148	L	0.34521	1.04	0.39558	D	0.96908	B;B	0.21606	0.058;0.058	B;B	0.20184	0.028;0.028	T	0.34700	-0.9818	10	0.14252	T	0.57	-43.9449	5.4931	0.16787	0.1308:0.5983:0.0:0.2709	.	836;836	A7E228;O15090	.;ZN536_HUMAN	E	836	ENSP00000347730:D836E	ENSP00000347730:D836E	D	+	3	2	ZNF536	35730874	0.918000	0.31147	1.000000	0.80357	0.851000	0.48451	0.025000	0.13577	0.878000	0.35920	0.591000	0.81541	GAC		0.582	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		27	57	1	0	3.65163e-15	0.706142	4.56454e-15	27	57				
MOGS	7841	broad.mit.edu	37	2	74689333	74689333	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:74689333G>T	ENST00000233616.4	-	4	1745	c.1583C>A	c.(1582-1584)cCt>cAt	p.P528H	MOGS_ENST00000452063.2_Missense_Mutation_p.P422H|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	528					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CAAGTCGTCAGGGTCACCAAC	0.597																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1582-1584)cCt>cAt		mannosyl-oligosaccharide glucosidase							71.0	78.0	75.0					2																	74689333		1999	4176	6175	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689333G>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1583C>A	2.37:g.74689333G>T	ENSP00000233616:p.Pro528His					MOGS_ENST00000452063.2_Missense_Mutation_p.P422H|MOGS_ENST00000409065.1_3'UTR	p.P528H	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1745	-			528					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1583C>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447535	0.43429	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.37235	1.21;1.21;1.21	5.19	5.19	0.71726	Six-hairpin glycosidase-like (1);	0.335249	0.31312	N	0.007874	T	0.43255	0.1239	L	0.31752	0.955	0.80722	D	1	D	0.76494	0.999	D	0.63113	0.911	T	0.19289	-1.0310	10	0.46703	T	0.11	-10.4547	11.8498	0.52405	0.0:0.1758:0.8241:0.0	.	528	Q13724	MOGS_HUMAN	H	528;422;422	ENSP00000233616:P528H;ENSP00000388201:P422H;ENSP00000410992:P422H	ENSP00000233616:P528H	P	-	2	0	MOGS	74542841	0.988000	0.35896	0.972000	0.41901	0.895000	0.52256	4.206000	0.58473	2.710000	0.92621	0.655000	0.94253	CCT		0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		24	86	1	0	4.81078e-24	0.639603	6.2014e-24	24	86				
STAC2	342667	broad.mit.edu	37	17	37369370	37369370	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:37369370G>T	ENST00000333461.5	-	10	1378	c.1009C>A	c.(1009-1011)Cgg>Agg	p.R337R		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	337	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						AAGCCAACCCGGTCGCCGATC	0.607																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(1009-1011)Cgg>Agg		SH3 and cysteine rich domain 2							52.0	56.0	54.0					17																	37369370		2203	4300	6503	SO:0001819	synonymous_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37369370G>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1009C>A	17.37:g.37369370G>T							p.R337R	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			10	1378	-			337			SH3.		Q32MA3	Silent	SNP	ENST00000333461.5	37	c.1009C>A	CCDS11335.1																																																																																				0.607	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		28	32	1	0	1.77063e-15	0.693898	2.24734e-15	28	32				
TRIM33	51592	broad.mit.edu	37	1	114964164	114964164	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:114964164T>A	ENST00000358465.2	-	11	2038	c.1955A>T	c.(1954-1956)aAt>aTt	p.N652I	TRIM33_ENST00000450349.2_Missense_Mutation_p.N260I|TRIM33_ENST00000369543.2_Missense_Mutation_p.N652I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	652					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGTTTGCATTTGCCATAGT	0.502			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1954-1956)aAt>aTt		tripartite motif containing 33							360.0	283.0	309.0					1																	114964164		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114964164T>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1955A>T	1.37:g.114964164T>A	ENSP00000351250:p.Asn652Ile					TRIM33_ENST00000369543.2_Missense_Mutation_p.N652I|TRIM33_ENST00000450349.2_Missense_Mutation_p.N260I	p.N652I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2038	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	652					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1955A>T	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.46|18.46	3.629032|3.629032	0.67015|0.67015	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.74947	.|-0.8;-0.71;-0.89	5.87|5.87	3.47|3.47	0.39725|0.39725	.|.	.|0.221042	.|0.56097	.|D	.|0.000035	T|T	0.48114|0.48114	0.1482|0.1482	L|L	0.44542|0.44542	1.39|1.39	0.50313|0.50313	D|D	0.999865|0.999865	.|B;B;P;B	.|0.36909	.|0.177;0.087;0.573;0.437	.|B;B;B;B	.|0.34590	.|0.049;0.049;0.186;0.091	T|T	0.49799|0.49799	-0.8901|-0.8901	5|10	.|0.35671	.|T	.|0.21	-13.4972|-13.4972	8.6559|8.6559	0.34062|0.34062	0.0:0.2368:0.0:0.7632|0.0:0.2368:0.0:0.7632	.|.	.|260;260;652;652	.|E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.|.;.;.;TRI33_HUMAN	L|I	389|652;652;260	.|ENSP00000351250:N652I;ENSP00000358556:N652I;ENSP00000412077:N260I	.|ENSP00000351250:N652I	M|N	-|-	1|2	0|0	TRIM33|TRIM33	114765687|114765687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.601000|1.601000	0.36773|0.36773	1.094000|1.094000	0.41399|0.41399	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.502	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		30	45	0	0	0	0.796494	0	30	45				
NDUFB3	4709	broad.mit.edu	37	2	201943659	201943659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:201943659T>G	ENST00000237889.4	+	2	377	c.54T>G	c.(52-54)gaT>gaG	p.D18E	NDUFB3_ENST00000454214.1_Missense_Mutation_p.D18E|RNU6-1206P_ENST00000516339.1_RNA|NDUFB3_ENST00000433898.1_Missense_Mutation_p.D18E	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	18					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)|urinary_tract(1)	3						AACTTCCAGATTATAGACAAT	0.408																																						ENST00000237889.4																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(52-54)gaT>gaG		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	NADH(DB00157)						74.0	72.0	73.0					2																	201943659		2203	4300	6503	SO:0001583	missense	4709				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr2:201943659T>G	AF047183	CCDS2336.1	2q33.1	2011-07-04	2002-08-29		ENSG00000119013	ENSG00000119013		"""Mitochondrial respiratory chain complex / Complex I"""	7698	protein-coding gene	gene with protein product	"""complex I B12 subunit"""	603839	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12)"""			9425316, 11474204	Standard	NM_002491		Approved	B12	uc002uwx.4	O43676	OTTHUMG00000132820	ENST00000237889.4:c.54T>G	2.37:g.201943659T>G	ENSP00000237889:p.Asp18Glu					NDUFB3_ENST00000433898.1_Missense_Mutation_p.D18E|NDUFB3_ENST00000454214.1_Missense_Mutation_p.D18E	p.D18E	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN			2	377	+			18					Q6IB80	Missense_Mutation	SNP	ENST00000237889.4	37	c.54T>G	CCDS2336.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142676	0.57044	.	.	ENSG00000119013	ENST00000450023;ENST00000237889;ENST00000433898;ENST00000454214	D;T;T;T	0.82526	-1.62;-1.27;-1.27;-1.27	5.11	2.74	0.32292	.	0.000000	0.85682	D	0.000000	D	0.89118	0.6624	.	.	.	0.45621	D	0.998556	D	0.76494	0.999	D	0.78314	0.991	D	0.87116	0.2188	9	0.72032	D	0.01	-3.0903	7.4336	0.27141	0.0:0.2513:0.0:0.7487	.	18	O43676	NDUB3_HUMAN	E	18	ENSP00000401834:D18E;ENSP00000237889:D18E;ENSP00000410600:D18E;ENSP00000407336:D18E	ENSP00000237889:D18E	D	+	3	2	NDUFB3	201651904	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	0.522000	0.22909	0.374000	0.24650	-0.250000	0.11733	GAT		0.408	NDUFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256277.1	NM_002491		4	49	0	0	0	0.150653	0	4	49				
CRYBB3	1417	broad.mit.edu	37	22	25598707	25598707	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:25598707C>A	ENST00000215855.2	+	3	222	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	CRYBB3_ENST00000404334.1_Missense_Mutation_p.L48M	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	48	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GTGCCCCAGCCTGACCGACAG	0.602											OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(142-144)Ctg>Atg		crystallin, beta B3							63.0	61.0	62.0					22																	25598707		2203	4300	6503	SO:0001583	missense	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25598707C>A		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.142C>A	22.37:g.25598707C>A	ENSP00000215855:p.Leu48Met		OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	780	CRYBB3_ENST00000404334.1_Missense_Mutation_p.L48M	p.L48M	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			3	222	+			48			Beta/gamma crystallin 'Greek key' 1.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	c.142C>A	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275228	0.59649	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.80123	-1.34;-1.34	4.45	1.12	0.20585	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.156361	0.43579	D	0.000555	D	0.83667	0.5304	L	0.58583	1.82	0.41178	D	0.986218	D	0.60575	0.988	D	0.76071	0.987	T	0.80023	-0.1556	10	0.49607	T	0.09	.	5.772	0.18259	0.0:0.5156:0.3037:0.1807	.	48	P26998	CRBB3_HUMAN	M	48	ENSP00000215855:L48M;ENSP00000386123:L48M	ENSP00000215855:L48M	L	+	1	2	CRYBB3	23928707	0.894000	0.30519	0.995000	0.50966	0.963000	0.63663	0.583000	0.23849	0.316000	0.23135	0.555000	0.69702	CTG		0.602	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		19	34	1	0	9.62636e-23	0.624587	1.23128e-22	19	34				
SSTR3	6753	broad.mit.edu	37	22	37603421	37603421	+	Missense_Mutation	SNP	C	C	T	rs373095766		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:37603421C>T	ENST00000328544.3	-	2	955	c.422G>A	c.(421-423)cGc>cAc	p.R141H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R141H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	141					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GGCCAGGTAGCGGTCCACGCT	0.667																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(421-423)cGc>cAc		somatostatin receptor 3							95.0	87.0	90.0					22																	37603421		2203	4300	6503	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603421C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.422G>A	22.37:g.37603421C>T	ENSP00000330138:p.Arg141His					SSTR3_ENST00000402501.1_Missense_Mutation_p.R141H	p.R141H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	955	-			141					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.422G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428700	0.96131	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	D;D	0.97161	-4.27;-4.27	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99299	0.9755	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98455	1.0593	10	0.87932	D	0	.	20.1238	0.97972	0.0:1.0:0.0:0.0	.	141	P32745	SSR3_HUMAN	H	141	ENSP00000330138:R141H;ENSP00000384904:R141H	ENSP00000330138:R141H	R	-	2	0	SSTR3	35933367	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.764000	0.94973	0.557000	0.71058	CGC		0.667	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			61	71	0	0	0	0.870114	0	61	71				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	30	0	0	0	0.184627	0	4	30				
PLCH1	23007	broad.mit.edu	37	3	155199435	155199435	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:155199435C>A	ENST00000340059.7	-	23	4403	c.4404G>T	c.(4402-4404)atG>atT	p.M1468I	PLCH1_ENST00000414191.1_Missense_Mutation_p.M1430I|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.M1430I|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.M1430I	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1468					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGGGACATGCATATCTTGAG	0.473																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4288-4290)atG>atT		phospholipase C, eta 1							115.0	109.0	111.0					3																	155199435		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199435C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4404G>T	3.37:g.155199435C>A	ENSP00000345988:p.Met1468Ile					PLCH1_ENST00000414191.1_Missense_Mutation_p.M1430I|PLCH1_ENST00000334686.6_Missense_Mutation_p.M1430I|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.M1468I|PLCH1_ENST00000494598.1_Intron	p.M1430I			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4647	-			1468					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4290G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	0.799	-0.755984	0.03019	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.13	3.32	0.38043	.	3.222670	0.00664	N	0.000616	T	0.18130	0.0435	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.17319	-1.0373	10	0.36615	T	0.2	.	9.1302	0.36841	0.0:0.7741:0.0:0.2259	.	1430;1468	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	I	1430;1468;1430;1430	ENSP00000417502:M1430I;ENSP00000345988:M1468I;ENSP00000335469:M1430I;ENSP00000412977:M1430I	ENSP00000335469:M1430I	M	-	3	0	PLCH1	156682129	0.033000	0.19621	0.121000	0.21740	0.003000	0.03518	0.145000	0.16157	1.160000	0.42584	-0.145000	0.13849	ATG		0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		14	121	1	0	4.3838e-07	0.435327	4.88735e-07	14	121				
TPH2	121278	broad.mit.edu	37	12	72416243	72416243	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:72416243C>A	ENST00000333850.3	+	9	1274	c.1133C>A	c.(1132-1134)gCa>gAa	p.A378E		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	378					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCATATGGAGCAGGACTCCTT	0.428																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1132-1134)gCa>gAa		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						113.0	105.0	108.0					12																	72416243		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72416243C>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1133C>A	12.37:g.72416243C>A	ENSP00000329093:p.Ala378Glu						p.A378E	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			9	1274	+			378					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1133C>A	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383065	0.95967	.	.	ENSG00000139287	ENST00000333850	D	0.99833	-7.03	5.98	5.98	0.97165	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99910	0.9957	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96481	0.9356	10	0.87932	D	0	-21.502	20.452	0.99131	0.0:1.0:0.0:0.0	.	378	Q8IWU9	TPH2_HUMAN	E	378	ENSP00000329093:A378E	ENSP00000329093:A378E	A	+	2	0	TPH2	70702510	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	GCA		0.428	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		16	55	1	0	1.33834e-09	0.557998	1.54423e-09	16	55				
TDRD6	221400	broad.mit.edu	37	6	46661854	46661854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr6:46661854G>T	ENST00000316081.6	+	1	5989	c.5989G>T	c.(5989-5991)Gag>Tag	p.E1997*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E1997*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1997					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTGTTCTCTGAGGAAGAAAG	0.318																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5989-5991)Gag>Tag		tudor domain containing 6							104.0	106.0	105.0					6																	46661854		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661854G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5989G>T	6.37:g.46661854G>T	ENSP00000346065:p.Glu1997*					TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1997*	p.E1997*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	6243	+			1997					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.5989G>T	CCDS34470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.028583|11.028583	0.99505|0.99505	.|.	.|.	ENSG00000180113|ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334|ENST00000450697	.|.	.|.	.|.	5.07|5.07	3.26|3.26	0.37387|0.37387	.|.	0.323644|.	0.26362|.	N|.	0.024809|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.54805|.	T|.	0.06|.	-12.2551|-12.2551	7.9914|7.9914	0.30242|0.30242	0.1928:0.0:0.8072:0.0|0.1928:0.0:0.8072:0.0	.|.	.|.	.|.	.|.	X|L	1997;1997;58|49	.|.	ENSP00000346065:E1997X|.	E|X	+|+	1|2	0|2	TDRD6|TDRD6	46769813|46769813	0.954000|0.954000	0.32549|0.32549	0.124000|0.124000	0.21820|0.21820	0.044000|0.044000	0.14063|0.14063	1.743000|1.743000	0.38258|0.38258	0.520000|0.520000	0.28426|0.28426	0.557000|0.557000	0.71058|0.71058	GAG|TGA		0.318	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		11	124	1	0	0.00244969	0.457914	0.00259102	11	124				
ASPM	259266	broad.mit.edu	37	1	197111716	197111716	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:197111716T>C	ENST00000367409.4	-	3	1922	c.1666A>G	c.(1666-1668)Aag>Gag	p.K556E	ASPM_ENST00000294732.7_Missense_Mutation_p.K556E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	556					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTATAACTCTTAGATTTACTT	0.353																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1666-1668)Aag>Gag		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							89.0	95.0	93.0					1																	197111716		2202	4299	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111716T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1666A>G	1.37:g.197111716T>C	ENSP00000356379:p.Lys556Glu					ASPM_ENST00000294732.7_Missense_Mutation_p.K556E	p.K556E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1922	-			556					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1666A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559516	0.65538	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58652	0.32;1.6	5.56	-0.683	0.11335	.	0.819993	0.11184	N	0.590692	T	0.44871	0.1314	L	0.51422	1.61	0.09310	N	1	B;B	0.29716	0.006;0.255	B;B	0.26614	0.005;0.071	T	0.32955	-0.9887	10	0.44086	T	0.13	.	5.5188	0.16921	0.0:0.2151:0.227:0.558	.	556;556	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	E	556	ENSP00000356379:K556E;ENSP00000294732:K556E	ENSP00000294732:K556E	K	-	1	0	ASPM	195378339	0.000000	0.05858	0.000000	0.03702	0.922000	0.55478	0.292000	0.19011	-0.047000	0.13423	0.472000	0.43445	AAG		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		42	54	0	0	0	0.840704	0	42	54				
OR5B17	219965	broad.mit.edu	37	11	58125655	58125655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:58125655C>A	ENST00000357377.3	-	1	887	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATGCATTCTTCACGTCTT	0.368																																						ENST00000357377.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(886-888)aaG>aaT		olfactory receptor, family 5, subfamily B, member 17							125.0	122.0	123.0					11																	58125655		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125655C>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.888G>T	11.37:g.58125655C>A	ENSP00000349945:p.Lys296Asn						p.K296N	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	887	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	296					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.888G>T	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	c	2.148	-0.395270	0.04899	.	.	ENSG00000197786	ENST00000357377	T	0.40756	1.02	2.63	1.71	0.24356	.	.	.	.	.	T	0.45135	0.1327	M	0.86343	2.81	0.09310	N	1	B	0.31752	0.338	B	0.30105	0.111	T	0.45381	-0.9265	9	0.66056	D	0.02	-14.4417	6.4026	0.21646	0.0:0.8496:0.0:0.1504	.	296	Q8NGF7	OR5BH_HUMAN	N	296	ENSP00000349945:K296N	ENSP00000349945:K296N	K	-	3	2	OR5B17	57882231	0.000000	0.05858	0.017000	0.16124	0.077000	0.17291	-1.357000	0.02607	0.309000	0.22966	0.306000	0.20318	AAG		0.368	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		19	105	1	0	1.33834e-09	0.557998	1.54423e-09	19	105				
ZNF500	26048	broad.mit.edu	37	16	4815844	4815844	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:4815844G>C	ENST00000219478.6	-	2	435	c.136C>G	c.(136-138)Cct>Gct	p.P46A	ZNF500_ENST00000545009.1_Missense_Mutation_p.P46A			O60304	ZN500_HUMAN	zinc finger protein 500	46					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAAGTCTCAGGGCTGGGGTCC	0.642																																						ENST00000219478.6																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(136-138)Cct>Gct		zinc finger protein 500							34.0	34.0	34.0					16																	4815844		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4815844G>C	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.136C>G	16.37:g.4815844G>C	ENSP00000219478:p.Pro46Ala					ZNF500_ENST00000545009.1_Missense_Mutation_p.P46A	p.P46A			O60304	ZN500_HUMAN			2	435	-			46					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.136C>G	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629267	0.67015	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.06294	3.32;3.32	4.32	4.32	0.51571	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	.	.	.	.	T	0.18215	0.0437	M	0.65320	2	0.25783	N	0.984705	D;D	0.65815	0.995;0.995	P;P	0.62382	0.901;0.901	T	0.04307	-1.0961	9	0.32370	T	0.25	.	12.3259	0.55011	0.0:0.0:1.0:0.0	.	46;46	B4DNN9;O60304	.;ZN500_HUMAN	A	46	ENSP00000445714:P46A;ENSP00000219478:P46A	ENSP00000219478:P46A	P	-	1	0	ZNF500	4755845	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	1.569000	0.36428	1.979000	0.57680	0.655000	0.94253	CCT		0.642	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		14	46	0	0	0	0.457914	0	14	46				
COL1A1	1277	broad.mit.edu	37	17	48273527	48273527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:48273527C>T	ENST00000225964.5	-	15	1109	c.991G>A	c.(991-993)Gcc>Acc	p.A331T		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	331	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGGGGCCCGGCAGCACCAGTA	0.612			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(991-993)Gcc>Acc		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						37.0	39.0	39.0					17																	48273527		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48273527C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.991G>A	17.37:g.48273527C>T	ENSP00000225964:p.Ala331Thr						p.A331T	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			15	1109	-			331			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.991G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585728	0.66105	.	.	ENSG00000108821	ENST00000225964	D	0.93366	-3.21	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.92084	0.7491	N	0.21282	0.65	0.58432	D	0.999991	P	0.41450	0.75	P	0.51453	0.67	D	0.91569	0.5270	10	0.35671	T	0.21	.	17.3045	0.87191	0.0:1.0:0.0:0.0	.	331	P02452	CO1A1_HUMAN	T	331	ENSP00000225964:A331T	ENSP00000225964:A331T	A	-	1	0	COL1A1	45628526	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.640000	0.46579	2.382000	0.81193	0.650000	0.86243	GCC		0.612	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			11	19	0	0	0	0.411799	0	11	19				
SEC16B	89866	broad.mit.edu	37	1	177909817	177909817	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:177909817C>T	ENST00000308284.6	-	17	2144	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	685					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTTCTAAAACCAGAGGATCTG	0.547																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2053-2055)ctG>ctA		SEC16 homolog B (S. cerevisiae)							53.0	60.0	58.0					1																	177909817		2085	4212	6297	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177909817C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2055G>A	1.37:g.177909817C>T						RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	p.L685L	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			17	2144	-			685					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.2055G>A	CCDS44281.1																																																																																				0.547	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		7	26	0	0	0	0.307466	0	7	26				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			38	31	0	0	0	0.812448	0	38	31				
PRKAA1	5562	broad.mit.edu	37	5	40777689	40777689	+	Splice_Site	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:40777689C>G	ENST00000397128.2	-	2	136		c.e2-1		PRKAA1_ENST00000296800.4_Splice_Site|PRKAA1_ENST00000354209.3_Splice_Site	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit						activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGTTTGCCAACTGTAAAAGAA	0.378																																						ENST00000397128.2																			0				breast(1)	1						c.e2-1		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						48.0	45.0	46.0					5																	40777689		1815	4076	5891	SO:0001630	splice_region_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40777689C>G		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.128-1G>C	5.37:g.40777689C>G						PRKAA1_ENST00000354209.3_Splice_Site|PRKAA1_ENST00000296800.4_Splice_Site		NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			2	136	-								A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Splice_Site	SNP	ENST00000397128.2	37		CCDS3932.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221832	0.79464	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.066	0.97704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC008810.1	40813446	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.484000	0.81180	2.730000	0.93505	0.650000	0.86243	.		0.378	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251	Intron	36	14	0	0	0	0.788014	0	36	14				
OLFM3	118427	broad.mit.edu	37	1	102269859	102269859	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:102269859T>C	ENST00000338858.5	-	6	1371	c.1372A>G	c.(1372-1374)Aat>Gat	p.N458D	OLFM3_ENST00000370103.4_Missense_Mutation_p.N438D|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	458	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGTGGCCATTGTTCCAGGCA	0.418																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(1312-1314)Aat>Gat		olfactomedin 3							174.0	163.0	167.0					1																	102269859		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102269859T>C	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1372A>G	1.37:g.102269859T>C	ENSP00000345192:p.Asn458Asp					OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.N458D	p.N438D	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1525	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	458			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.1312A>G		.	.	.	.	.	.	.	.	.	.	T	21.5	4.153467	0.78114	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.89415	-2.51;-2.51	5.77	5.77	0.91146	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.91623	0.7353	M	0.62723	1.935	0.80722	D	1	B;D	0.69078	0.222;0.997	B;D	0.77004	0.261;0.989	D	0.90406	0.4406	10	0.32370	T	0.25	.	16.0847	0.81038	0.0:0.0:0.0:1.0	.	438;458	Q5T3V6;Q96PB7	.;NOE3_HUMAN	D	438;458	ENSP00000359121:N438D;ENSP00000345192:N458D	ENSP00000345192:N458D	N	-	1	0	OLFM3	102042447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.202000	0.70862	0.528000	0.53228	AAT		0.418	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			54	34	0	0	0	0.870114	0	54	34				
CILP	8483	broad.mit.edu	37	15	65491100	65491100	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:65491100G>A	ENST00000261883.4	-	9	1690	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	508					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTACACATGGCCAAAGCGCA	0.597																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(1522-1524)ggC>ggT		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							74.0	65.0	68.0					15																	65491100		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65491100G>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1524C>T	15.37:g.65491100G>A							p.G508G	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	1690	-			508					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.1524C>T	CCDS10203.1																																																																																				0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		4	37	0	0	0	0.150653	0	4	37				
CEP112	201134	broad.mit.edu	37	17	63898393	63898393	+	Silent	SNP	G	G	A	rs140758713		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:63898393G>A	ENST00000392769.2	-	20	2258	c.2040C>T	c.(2038-2040)aaC>aaT	p.N680N	CEP112_ENST00000535342.2_Silent_p.N680N|CEP112_ENST00000537949.1_Silent_p.N638N|CEP112_ENST00000541355.1_Silent_p.N315N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	680					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CCTTCTCTGCGTTATGCTGCT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		14943	0.001		0.0	False		,,,				2504	0.0					ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2038-2040)aaC>aaT		centrosomal protein 112kDa		G	,	1,4405	2.1+/-5.4	0,1,2202	215.0	171.0	186.0		2040,2040	3.5	1.0	17	dbSNP_134	186	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CEP112	NM_001199165.1,NM_145036.3	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	680/956,680/956	63898393	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:63898393G>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2040C>T	17.37:g.63898393G>A						CEP112_ENST00000537949.1_Silent_p.N638N|CEP112_ENST00000541355.1_Silent_p.N315N|CEP112_ENST00000535342.2_Silent_p.N680N	p.N680N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			20	2258	-			680					Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.2040C>T	CCDS32710.1																																																																																				0.463	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		22	35	0	0	0	0.639603	0	22	35				
PHF20L1	51105	broad.mit.edu	37	8	133858165	133858165	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:133858165A>G	ENST00000395386.2	+	21	3350	c.3051A>G	c.(3049-3051)gtA>gtG	p.V1017V	PHF20L1_ENST00000395390.2_Silent_p.V992V|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Silent_p.V404V|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1017							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTGCTCTGTATGACAACAGT	0.388																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(3049-3051)gtA>gtG		PHD finger protein 20-like 1							77.0	70.0	72.0					8																	133858165		1901	4129	6030	SO:0001819	synonymous_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133858165A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.3051A>G	8.37:g.133858165A>G						PHF20L1_ENST00000220847.7_Silent_p.V404V|PHF20L1_ENST00000395390.2_Silent_p.V992V	p.V1017V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		21	3350	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		1017					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	c.3051A>G	CCDS6367.2																																																																																				0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		21	13	0	0	0	0.624587	0	21	13				
SLC52A1	55065	broad.mit.edu	37	17	4937602	4937602	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:4937602C>A	ENST00000424747.1	-	3	894	c.182G>T	c.(181-183)gGt>gTt	p.G61V	SLC52A1_ENST00000254853.5_Missense_Mutation_p.G61V|SLC52A1_ENST00000512825.2_Missense_Mutation_p.G61V	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	61					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										CACCAGCAGACCCAGGTTTCC	0.627																																						ENST00000512825.2																			0											c.(181-183)gGt>gTt		solute carrier family 52 (riboflavin transporter), member 1							56.0	57.0	56.0					17																	4937602		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937602C>A	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.182G>T	17.37:g.4937602C>A	ENSP00000399979:p.Gly61Val					SLC52A1_ENST00000424747.1_Missense_Mutation_p.G61V|SLC52A1_ENST00000254853.5_Missense_Mutation_p.G61V	p.G61V			Q9NWF4	RFT_HUMAN			3	1593	-			61					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.182G>T	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860469	0.71834	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.80653	-1.4;-1.4;-1.4	2.28	2.28	0.28536	.	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.87734	0.2581	10	0.51188	T	0.08	.	10.5946	0.45329	0.0:1.0:0.0:0.0	.	61;61	F5H5Y1;Q9NWF4	.;RFT_HUMAN	V	61	ENSP00000254853:G61V;ENSP00000443026:G61V;ENSP00000399979:G61V	ENSP00000254853:G61V	G	-	2	0	GPR172B	4878326	0.999000	0.42202	0.994000	0.49952	0.983000	0.72400	5.286000	0.65639	1.578000	0.49821	0.591000	0.81541	GGT		0.627	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		30	54	1	0	4.34311e-12	0.779181	5.30824e-12	30	54				
TTLL5	23093	broad.mit.edu	37	14	76286467	76286467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:76286467C>G	ENST00000298832.9	+	28	3494	c.3289C>G	c.(3289-3291)Caa>Gaa	p.Q1097E	TTLL5_ENST00000556893.1_Missense_Mutation_p.Q648E|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q1112E|TTLL5_ENST00000554510.1_Missense_Mutation_p.Q606E|RP11-270M14.4_ENST00000556207.1_RNA	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1097					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTCAGACCCCCAAGCTCCCGA	0.562																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3289-3291)Caa>Gaa		tubulin tyrosine ligase-like family, member 5							75.0	66.0	69.0					14																	76286467		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76286467C>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3289C>G	14.37:g.76286467C>G	ENSP00000298832:p.Gln1097Glu					TTLL5_ENST00000557636.1_Missense_Mutation_p.Q1112E|TTLL5_ENST00000556893.1_Missense_Mutation_p.Q648E|TTLL5_ENST00000554510.1_Missense_Mutation_p.Q606E|RP11-270M14.4_ENST00000556207.1_RNA	p.Q1097E	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	28	3494	+			1097					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3289C>G	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296914	0.23650	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.22336	4.06;4.14;1.96;1.96	5.84	5.84	0.93424	.	0.632660	0.16349	N	0.218287	T	0.15305	0.0369	N	0.19112	0.55	0.22342	N	0.999184	B;B;B;B	0.26483	0.047;0.122;0.15;0.011	B;B;B;B	0.24541	0.031;0.054;0.031;0.014	T	0.16600	-1.0397	10	0.13108	T	0.6	.	17.3095	0.87205	0.0:1.0:0.0:0.0	.	1112;171;648;1097	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	E	171;1112;1097;648;648;606	ENSP00000450713:Q1112E;ENSP00000298832:Q1097E;ENSP00000452524:Q648E;ENSP00000451946:Q606E	ENSP00000286653:Q171E	Q	+	1	0	TTLL5	75356220	0.911000	0.30947	0.960000	0.40013	0.051000	0.14879	2.865000	0.48412	2.764000	0.94973	0.650000	0.86243	CAA		0.562	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		14	36	0	0	0	0.500413	0	14	36				
VCPIP1	80124	broad.mit.edu	37	8	67576729	67576729	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:67576729G>C	ENST00000310421.4	-	1	2723	c.2465C>G	c.(2464-2466)cCt>cGt	p.P822R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	822					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTCTTTAGGAGGAAACCCGTA	0.383																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2464-2466)cCt>cGt		valosin containing protein (p97)/p47 complex interacting protein 1							131.0	135.0	133.0					8																	67576729		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67576729G>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2465C>G	8.37:g.67576729G>C	ENSP00000309031:p.Pro822Arg						p.P822R	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2723	-		Lung NSC(129;0.142)|all_lung(136;0.227)	822					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.2465C>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876960	0.91664	.	.	ENSG00000175073	ENST00000310421	T	0.68331	-0.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83207	0.5204	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84779	0.0772	10	0.87932	D	0	-12.7103	19.5838	0.95484	0.0:0.0:1.0:0.0	.	822	Q96JH7	VCIP1_HUMAN	R	822	ENSP00000309031:P822R	ENSP00000309031:P822R	P	-	2	0	VCPIP1	67739283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.823000	0.99369	2.613000	0.88420	0.655000	0.94253	CCT		0.383	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			28	125	0	0	0	0.693898	0	28	125				
GXYLT1	283464	broad.mit.edu	37	12	42512903	42512903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:42512903C>G	ENST00000398675.3	-	3	617	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	GXYLT1_ENST00000280876.6_Missense_Mutation_p.E98Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	129					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTCATAGTTTCTTCCAGTCTT	0.378																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(385-387)Gaa>Caa		glucoside xylosyltransferase 1							100.0	92.0	94.0					12																	42512903		1921	4131	6052	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42512903C>G	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.385G>C	12.37:g.42512903C>G	ENSP00000381666:p.Glu129Gln					GXYLT1_ENST00000280876.6_Missense_Mutation_p.E98Q	p.E129Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			3	617	-			129					B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.385G>C	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807399	0.90623	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.21543	2.0;2.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.71581	2.175	0.80722	D	1	D;D	0.60575	0.985;0.988	D;D	0.67382	0.918;0.951	T	0.35773	-0.9775	10	0.49607	T	0.09	.	19.4065	0.94649	0.0:1.0:0.0:0.0	.	98;129	Q4G148-2;Q4G148	.;GXLT1_HUMAN	Q	129;98	ENSP00000381666:E129Q;ENSP00000280876:E98Q	ENSP00000280876:E98Q	E	-	1	0	GXYLT1	40799170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.414000	0.80117	2.595000	0.87683	0.591000	0.81541	GAA		0.378	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		17	81	0	0	0	0.520397	0	17	81				
CLIP1	6249	broad.mit.edu	37	12	122862371	122862371	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:122862371G>C	ENST00000540338.1	-	2	263	c.222C>G	c.(220-222)atC>atG	p.I74M	CLIP1_ENST00000302528.7_Missense_Mutation_p.I74M|CLIP1_ENST00000358808.2_Missense_Mutation_p.I74M|CLIP1_ENST00000361654.4_Missense_Mutation_p.I74M|CLIP1_ENST00000537178.1_Missense_Mutation_p.I74M			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	74					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)		CAAGAAACTGGATAAATCCAG	0.483																																						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.(220-222)atC>atG		CAP-GLY domain containing linker protein 1							129.0	133.0	131.0					12																	122862371		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862371G>C		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.222C>G	12.37:g.122862371G>C	ENSP00000439093:p.Ile74Met					CLIP1_ENST00000540338.1_Missense_Mutation_p.I74M|CLIP1_ENST00000537178.1_Missense_Mutation_p.I74M|CLIP1_ENST00000361654.4_Missense_Mutation_p.I74M|CLIP1_ENST00000302528.7_Missense_Mutation_p.I74M	p.I74M	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)	3	376	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		74					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.222C>G	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039033	0.55003	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004;ENST00000535290;ENST00000539080	T;T;T;T;T;T;D;T	0.93604	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-3.25;0.3	5.68	2.85	0.33270	Cytoskeleton-associated protein, Gly-rich domain (3);	0.046530	0.85682	D	0.000000	D	0.97259	0.9104	H	0.97491	4.015	0.58432	D	0.999995	D;D;D;D	0.58268	0.982;0.981;0.981;0.969	D;D;D;D	0.81914	0.989;0.995;0.995;0.99	D	0.94944	0.8094	10	0.87932	D	0	-15.3478	5.5334	0.16997	0.271:0.0:0.6004:0.1287	.	74;74;74;74	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	M	74	ENSP00000303585:I74M;ENSP00000351665:I74M;ENSP00000445531:I74M;ENSP00000439093:I74M;ENSP00000437786:I74M;ENSP00000441409:I74M;ENSP00000439472:I74M;ENSP00000445387:I74M	ENSP00000303585:I74M	I	-	3	3	CLIP1	121428324	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.289000	0.18957	0.325000	0.23359	0.491000	0.48974	ATC		0.483	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		124	53	0	0	0	0.870114	0	124	53				
ID1	3397	broad.mit.edu	37	20	30193543	30193543	+	Missense_Mutation	SNP	C	C	T	rs200577120	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:30193543C>T	ENST00000376112.3	+	1	458	c.353C>T	c.(352-354)cCc>cTc	p.P118L	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Missense_Mutation_p.P118L	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	118					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTTGGAACCCCCGGGGGCCGA	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		16222	0.0		0.002	False		,,,				2504	0.0				NSCLC(123;1618 1779 21803 28680 33854)	ENST00000376105.3																			0				endometrium(2)|ovary(1)|pancreas(1)	4						c.(352-354)cCc>cTc		inhibitor of DNA binding 1, dominant negative helix-loop-helix protein		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	16.0	20.0	19.0		353,353	5.0	0.2	20		19	8,8590		0,8,4291	no	missense,missense	ID1	NM_002165.3,NM_181353.2	98,98	0,8,6494	TT,TC,CC		0.093,0.0,0.0615	benign,benign	118/156,118/150	30193543	8,12996	2203	4299	6502	SO:0001583	missense	3397				angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding	g.chr20:30193543C>T		CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"""Basic helix-loop-helix proteins"""	5360	protein-coding gene	gene with protein product	"""DNA-binding protein inhibitor ID-1"""	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.353C>T	20.37:g.30193543C>T	ENSP00000365280:p.Pro118Leu					ID1_ENST00000376112.3_Missense_Mutation_p.P118L	p.P118L	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		1	452	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		118					A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Missense_Mutation	SNP	ENST00000376112.3	37	c.353C>T	CCDS13185.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948446	0.34377	0.0	9.3E-4	ENSG00000125968	ENST00000376112;ENST00000376105	T;T	0.49720	0.77;0.77	4.97	4.97	0.65823	Helix-loop-helix DNA-binding (1);	0.414644	0.24508	N	0.037914	T	0.29458	0.0734	N	0.08118	0	0.44677	D	0.997664	P;B	0.35575	0.51;0.001	B;B	0.35413	0.202;0.001	T	0.11084	-1.0602	10	0.18710	T	0.47	-15.5649	17.3358	0.87280	0.0:1.0:0.0:0.0	.	118;118	P41134-2;P41134	.;ID1_HUMAN	L	118	ENSP00000365280:P118L;ENSP00000365273:P118L	ENSP00000365273:P118L	P	+	2	0	ID1	29657204	0.208000	0.23494	0.184000	0.23157	0.001000	0.01503	3.601000	0.54059	2.735000	0.93741	0.655000	0.94253	CCC		0.622	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078550.1	NM_002165		4	17	0	0	0	0.184627	0	4	17				
C2orf16	84226	broad.mit.edu	37	2	27804812	27804812	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:27804812C>T	ENST00000408964.2	+	1	5424	c.5373C>T	c.(5371-5373)caC>caT	p.H1791H	ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1791	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAAGCCATCACAGTCCCTCTG	0.542																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5371-5373)caC>caT		chromosome 2 open reading frame 16							167.0	170.0	169.0					2																	27804812		1928	4133	6061	SO:0001819	synonymous_variant	84226							g.chr2:27804812C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5373C>T	2.37:g.27804812C>T						AC074091.1_ENST00000408604.1_RNA	p.H1791H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5424	+	Acute lymphoblastic leukemia(172;0.155)		1791			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5373C>T	CCDS42666.1																																																																																				0.542	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		27	150	0	0	0	0.693898	0	27	150				
PLPPR4	9890	broad.mit.edu	37	1	99772407	99772407	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:99772407C>T	ENST00000370185.3	+	7	2630	c.2133C>T	c.(2131-2133)agC>agT	p.S711S	LPPR4_ENST00000370184.1_Silent_p.S553S|LPPR4_ENST00000457765.1_Silent_p.S653S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		711					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.S711R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAGAGGGCAGCGAAATTGGCT	0.522																																						ENST00000370185.3																			2	Substitution - Missense(2)	p.S711R(2)	lung(2)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(2131-2133)agC>agT									66.0	59.0	62.0					1																	99772407		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99772407C>T																												ENST00000370185.3:c.2133C>T	1.37:g.99772407C>T						LPPR4_ENST00000370184.1_Silent_p.S553S|LPPR4_ENST00000457765.1_Silent_p.S653S	p.S711S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2630	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	711					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.2133C>T	CCDS757.1																																																																																				0.522	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			6	28	0	0	0	0.217242	0	6	28				
ADAMTS7	11173	broad.mit.edu	37	15	79092702	79092702	+	Silent	SNP	G	G	A	rs374705825		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:79092702G>A	ENST00000388820.4	-	2	498	c.288C>T	c.(286-288)acC>acT	p.T96T	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	96					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCTGATTGGCGGTCAGGTTGA	0.731																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(286-288)acC>acT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							9.0	10.0	10.0					15																	79092702		2097	4108	6205	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79092702G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.288C>T	15.37:g.79092702G>A						ADAMTS7_ENST00000566303.1_5'UTR	p.T96T	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			2	498	-			96					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.288C>T	CCDS32303.1																																																																																				0.731	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	6	0	0	0	0.217242	0	4	6				
PRICKLE1	144165	broad.mit.edu	37	12	42864075	42864075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:42864075C>A	ENST00000455697.1	-	3	504	c.219G>T	c.(217-219)ttG>ttT	p.L73F	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L73F|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L73F|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L73F	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	73	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTAACTGGTACAAAAGCTGTT	0.398																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(217-219)ttG>ttT		prickle homolog 1 (Drosophila)							120.0	109.0	113.0					12																	42864075		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42864075C>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.219G>T	12.37:g.42864075C>A	ENSP00000401060:p.Leu73Phe					PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L73F|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L73F	p.L73F	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	3	504	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		73			PET.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.219G>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589954	0.66105	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108;ENST00000551050;ENST00000547113	D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.38	4.49	0.54785	PET domain (2);	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	M	0.88031	2.925	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93708	0.7021	10	0.66056	D	0.02	-13.6204	10.3814	0.44115	0.0:0.7497:0.1725:0.0778	.	73	Q96MT3	PRIC1_HUMAN	F	73	ENSP00000401060:L73F;ENSP00000398947:L73F;ENSP00000448359:L73F;ENSP00000345064:L73F;ENSP00000449819:L73F;ENSP00000447870:L73F;ENSP00000446970:L73F;ENSP00000446699:L73F	ENSP00000345064:L73F	L	-	3	2	PRICKLE1	41150342	0.967000	0.33354	1.000000	0.80357	0.991000	0.79684	0.113000	0.15499	1.424000	0.47217	0.556000	0.70494	TTG		0.398	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			9	47	1	0	0.000274275	0.307466	0.000295787	9	47				
CYP4X1	260293	broad.mit.edu	37	1	47515807	47515807	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:47515807T>G	ENST00000371901.3	+	12	1741	c.1491T>G	c.(1489-1491)aaT>aaG	p.N497K	CYP4X1_ENST00000538609.1_Missense_Mutation_p.N496K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	497						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGCCCAAGAATGGGATGTATT	0.408																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1489-1491)aaT>aaG		cytochrome P450, family 4, subfamily X, polypeptide 1							120.0	116.0	118.0					1																	47515807		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47515807T>G	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1491T>G	1.37:g.47515807T>G	ENSP00000360968:p.Asn497Lys					CYP4X1_ENST00000538609.1_Missense_Mutation_p.N496K	p.N497K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			12	1741	+			497					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1491T>G	CCDS544.1	.	.	.	.	.	.	.	.	.	.	t	11.14	1.551749	0.27739	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.66638	-0.22;-0.22	5.4	1.76	0.24704	.	0.194545	0.53938	N	0.000052	T	0.54951	0.1890	L	0.46741	1.465	0.40654	D	0.98206	B;B	0.27068	0.167;0.089	B;B	0.30572	0.117;0.071	T	0.52997	-0.8500	10	0.87932	D	0	.	4.7353	0.12984	0.0:0.2343:0.1548:0.611	.	497;496	Q8N118;G3V1U1	CP4X1_HUMAN;.	K	496;497	ENSP00000445965:N496K;ENSP00000360968:N497K	ENSP00000360968:N497K	N	+	3	2	CYP4X1	47288394	0.998000	0.40836	0.997000	0.53966	0.252000	0.25951	0.358000	0.20216	0.421000	0.25980	0.383000	0.25322	AAT		0.408	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		19	116	0	0	0	0.557998	0	19	116				
CSMD1	64478	broad.mit.edu	37	8	2820154	2820154	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:2820154G>A	ENST00000520002.1	-	62	10020	c.9465C>T	c.(9463-9465)ttC>ttT	p.F3155F	CSMD1_ENST00000602557.1_Silent_p.F3155F|CSMD1_ENST00000537824.1_Silent_p.F3154F|CSMD1_ENST00000602723.1_Silent_p.F2978F|CSMD1_ENST00000400186.3_Silent_p.F2978F|CSMD1_ENST00000542608.1_Silent_p.F2977F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3155	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTCTCCGCAGAACACAGCTA	0.463																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(9463-9465)ttC>ttT		CUB and Sushi multiple domains 1							31.0	32.0	32.0					8																	2820154		1917	4122	6039	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2820154G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9465C>T	8.37:g.2820154G>A						CSMD1_ENST00000400186.3_Silent_p.F2978F|CSMD1_ENST00000520002.1_Silent_p.F3155F|CSMD1_ENST00000542608.1_Silent_p.F2977F|CSMD1_ENST00000537824.1_Silent_p.F3154F|CSMD1_ENST00000602723.1_Silent_p.F2978F	p.F3155F			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	62	10020	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3155			Sushi 26.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9465C>T																																																																																					0.463	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	14	0	0	0	0.115264	0	3	14				
C7orf25	79020	broad.mit.edu	37	7	42949873	42949873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:42949873C>G	ENST00000350427.4	-	2	902	c.627G>C	c.(625-627)gaG>gaC	p.E209D	C7orf25_ENST00000431882.2_Missense_Mutation_p.E267D|C7orf25_ENST00000447342.1_Missense_Mutation_p.E209D|C7orf25_ENST00000438029.1_Missense_Mutation_p.E209D|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	209										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTGATTCACTCTCACTTGGTT	0.458																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(625-627)gaG>gaC		chromosome 7 open reading frame 25							71.0	68.0	69.0					7																	42949873		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949873C>G	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.627G>C	7.37:g.42949873C>G	ENSP00000343364:p.Glu209Asp					C7orf25_ENST00000447342.1_Missense_Mutation_p.E209D|C7orf25_ENST00000431882.2_Missense_Mutation_p.E267D|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.E209D	p.E209D			Q9BPX7	CG025_HUMAN			2	902	-			209					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.627G>C	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	0.776	-0.764033	0.02996	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.65	0.226	0.15353	.	0.485072	0.22716	N	0.056510	T	0.14098	0.0341	N	0.05351	-0.065	0.23616	N	0.997286	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10497	-1.0627	10	0.10902	T	0.67	2.2724	0.3355	0.00325	0.21:0.2618:0.2043:0.3239	.	267;209	B4DQM3;Q9BPX7	.;CG025_HUMAN	D	209;209;267;209	ENSP00000343364:E209D;ENSP00000413029:E209D;ENSP00000416290:E267D;ENSP00000396597:E209D	ENSP00000343364:E209D	E	-	3	2	C7orf25	42916398	0.996000	0.38824	0.999000	0.59377	0.679000	0.39708	0.386000	0.20702	0.348000	0.23949	0.556000	0.70494	GAG		0.458	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		27	25	0	0	0	0.693898	0	27	25				
OCA2	4948	broad.mit.edu	37	15	28326955	28326955	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:28326955C>T	ENST00000354638.3	-	2	221	c.66G>A	c.(64-66)acG>acA	p.T22T	OCA2_ENST00000353809.5_Silent_p.T22T|OCA2_ENST00000382996.2_Silent_p.T22T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	22					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGGCACGGACGTCTGCAGGA	0.701									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(64-66)acG>acA		oculocutaneous albinism II							13.0	15.0	14.0					15																	28326955		2194	4288	6482	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28326955C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.66G>A	15.37:g.28326955C>T						OCA2_ENST00000353809.5_Silent_p.T22T|OCA2_ENST00000382996.2_Silent_p.T22T	p.T22T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	2	221	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	22					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.66G>A	CCDS10020.1																																																																																				0.701	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		17	9	0	0	0	0.520397	0	17	9				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	115	0	0	0	0.278610	0	3	115				
SNHG14	104472715	broad.mit.edu	37	15	25325297	25325297	+	RNA	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:25325297G>A	ENST00000546682.1	+	0	0				SNHG14_ENST00000549804.2_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-13_ENST00000384408.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-15_ENST00000384445.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTGGATCGATGATGACTTCCA	0.428																																						ENST00000549804.2																			0																				230.0	207.0	214.0					15																	25325297		876	1991	2867			104472715							g.chr15:25325297G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25325297G>A						SNORD116-14_ENST00000383894.1_RNA								0	1377	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.428	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			46	48	0	0	0	0.870114	0	46	48				
SUPT6H	6830	broad.mit.edu	37	17	27031231	27031231	+	IGR	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:27031231C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_Splice_Site|PROCA1_ENST00000301039.2_Splice_Site|PROCA1_ENST00000581289.1_Splice_Site|PROCA1_ENST00000439862.3_Splice_Site	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCTTTTGCACCTGGGAGAAGG	0.572																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.e4-1		protein interacting with cyclin A1							44.0	49.0	47.0					17																	27031231		2193	4294	6487	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031231C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031231C>T						PROCA1_ENST00000581289.1_Splice_Site|PROCA1_ENST00000579650.1_Splice_Site|PROCA1_ENST00000439862.3_Splice_Site		NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			4	550	-	Lung NSC(42;0.00431)							A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Splice_Site	SNP	ENST00000314616.6	37		CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609079	0.46527	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	.	.	.	5.29	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4606	0.38783	0.0:0.9026:0.0:0.0974	.	.	.	.	.	-1	.	.	.	-	.	.	PROCA1	24055358	1.000000	0.71417	0.985000	0.45067	0.611000	0.37282	4.743000	0.62110	1.201000	0.43203	0.655000	0.94253	.		0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		20	79	0	0	0	0.608945	0	20	79				
CUL3	8452	broad.mit.edu	37	2	225400286	225400286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:225400286G>A	ENST00000264414.4	-	3	675	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q47*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	113					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATAGCTGTTTGATGATCATTC	0.333																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(337-339)Caa>Taa		cullin 3							185.0	164.0	172.0					2																	225400286		2203	4298	6501	SO:0001587	stop_gained	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225400286G>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.337C>T	2.37:g.225400286G>A	ENSP00000264414:p.Gln113*					CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q47*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000432260.2_5'UTR	p.Q113*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	675	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	113					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	37	c.337C>T	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.067359|6.067359	0.97251|0.97251	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777|ENST00000436172	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.054126|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80132	.|0.4567	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77480	.|-0.2572	.|3	0.02654|.	T|.	1|.	.|.	20.0728|20.0728	0.97731|0.97731	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	113;47;89;89|133	.|.	ENSP00000264414:Q113X|.	Q|S	-|-	1|2	0|0	CUL3|CUL3	225108530|225108530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.676000|0.676000	0.39594|0.39594	9.334000|9.334000	0.96470|0.96470	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.333	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			20	8	0	0	0	0.592651	0	20	8				
CALCR	799	broad.mit.edu	37	7	93106945	93106945	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:93106945A>G	ENST00000394441.1	-	4	556	c.241T>C	c.(241-243)Tgc>Cgc	p.C81R	CALCR_ENST00000421592.1_Missense_Mutation_p.C81R|CALCR_ENST00000426151.1_Missense_Mutation_p.C81R|CALCR_ENST00000360249.4_Missense_Mutation_p.C81R|CALCR_ENST00000359558.2_Missense_Mutation_p.C99R	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	99					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TCATCCCAGCACAGCCATCCA	0.418																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(295-297)Tgc>Cgc		calcitonin receptor	Salmon Calcitonin(DB00017)						94.0	79.0	84.0					7																	93106945		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93106945A>G	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.241T>C	7.37:g.93106945A>G	ENSP00000377959:p.Cys81Arg					CALCR_ENST00000421592.1_Missense_Mutation_p.C81R|CALCR_ENST00000360249.4_Missense_Mutation_p.C81R|CALCR_ENST00000394441.1_Missense_Mutation_p.C81R|CALCR_ENST00000426151.1_Missense_Mutation_p.C81R	p.C99R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		6	594	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		81					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.295T>C	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928968	0.73327	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	4.06	4.06	0.47325	.	.	.	.	.	D	0.89529	0.6741	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92769	0.6230	9	0.72032	D	0.01	.	12.9474	0.58379	1.0:0.0:0.0:0.0	.	99;81	F5H605;A4D1G6	.;.	R	99;81;81;81;81;81	ENSP00000352561:C99R;ENSP00000353385:C81R;ENSP00000399552:C81R;ENSP00000377959:C81R;ENSP00000389295:C81R	ENSP00000352561:C99R	C	-	1	0	CALCR	92944881	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	8.517000	0.90555	2.057000	0.61298	0.455000	0.32223	TGC		0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		16	27	0	0	0	0.575678	0	16	27				
TUBA4A	7277	broad.mit.edu	37	2	220115525	220115525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:220115525G>A	ENST00000248437.4	-	4	1069	c.896C>T	c.(895-897)gCc>gTc	p.A299V	TUBA4A_ENST00000392088.2_Missense_Mutation_p.A284V|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	299					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	CATCTGGTTGGCAGGCTCAAA	0.572																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(850-852)gCc>gTc		tubulin, alpha 4a							113.0	104.0	107.0					2																	220115525		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115525G>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.896C>T	2.37:g.220115525G>A	ENSP00000248437:p.Ala299Val					TUBA4A_ENST00000248437.4_Missense_Mutation_p.A299V|TUBA4A_ENST00000498660.1_5'UTR	p.A284V	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1406	-		Renal(207;0.0474)	299					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.851C>T	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526807	0.44969	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	D;D;D	0.81579	-1.51;-1.51;-1.51	5.26	5.26	0.73747	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.065541	0.64402	D	0.000016	D	0.83839	0.5341	M	0.85630	2.765	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.81703	-0.0812	10	0.66056	D	0.02	.	19.0611	0.93093	0.0:0.0:1.0:0.0	.	299	P68366	TBA4A_HUMAN	V	299;284;146	ENSP00000248437:A299V;ENSP00000375938:A284V;ENSP00000396212:A146V	ENSP00000248437:A299V	A	-	2	0	TUBA4A	219823769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.243000	0.72384	2.735000	0.93741	0.655000	0.94253	GCC		0.572	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		18	83	0	0	0	0.539581	0	18	83				
MACF1	23499	broad.mit.edu	37	1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T	rs573837366		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:39833905C>T	ENST00000372915.3	+	49	12959	c.12872C>T	c.(12871-12873)gCg>gTg	p.A4291V	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.A2726V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4323V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2224V|MACF1_ENST00000564288.1_Missense_Mutation_p.A4286V|MACF1_ENST00000539005.1_Missense_Mutation_p.A2224V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2224V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2224V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4291					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		16572	0.001		0.0	False		,,,				2504	0.0					ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12856-12858)gCg>gTg		microtubule-actin crosslinking factor 1							119.0	113.0	115.0					1																	39833905		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39833905C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12872C>T	1.37:g.39833905C>T	ENSP00000362006:p.Ala4291Val					MACF1_ENST00000539005.1_Missense_Mutation_p.A2224V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2224V|MACF1_ENST00000289893.4_Missense_Mutation_p.A2726V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2224V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4323V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2224V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.A4291V	p.A4286V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		50	13634	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4291					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12857C>T		.	.	.	.	.	.	.	.	.	.	C	14.65	2.598307	0.46318	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.61392	0.14;0.19;0.14;0.11;0.33;1.25	5.85	5.85	0.93711	.	0.485335	0.18855	N	0.129285	T	0.39682	0.1087	N	0.16478	0.41	0.80722	D	1	P;B;B;B	0.47191	0.891;0.09;0.009;0.005	B;B;B;B	0.37508	0.252;0.036;0.004;0.008	T	0.26643	-1.0097	10	0.22109	T	0.4	.	15.3264	0.74168	0.0:0.9314:0.0:0.0686	.	4291;2224;2224;2189	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	V	2224;4291;2224;2224;2224;2726	ENSP00000439537:A2224V;ENSP00000362006:A4291V;ENSP00000354573:A2224V;ENSP00000313438:A2224V;ENSP00000444364:A2224V;ENSP00000289893:A2726V	ENSP00000289893:A2726V	A	+	2	0	MACF1	39606492	0.361000	0.24972	0.946000	0.38457	0.799000	0.45148	0.880000	0.28159	2.775000	0.95449	0.467000	0.42956	GCG		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		31	48	0	0	0	0.779181	0	31	48				
MAGEA6	4105	broad.mit.edu	37	X	151869581	151869581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chrX:151869581G>A	ENST00000329342.5	+	3	496	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	91										breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAACCAAGAAGAGGAGGG	0.557																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(271-273)Gaa>Aaa		melanoma antigen family A, 6							64.0	62.0	63.0					X																	151869581		2201	4298	6499	SO:0001583	missense	4105						protein binding	g.chrX:151869581G>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.271G>A	X.37:g.151869581G>A	ENSP00000329199:p.Glu91Lys						p.E91K	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	496	+	Acute lymphoblastic leukemia(192;6.56e-05)		91					A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.271G>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	5.461	0.270082	0.10349	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.04360	3.64;3.64;3.64	0.605	-0.359	0.12571	Melanoma associated antigen, MAGE, N-terminal (1);	1.628260	0.02941	N	0.140505	T	0.08179	0.0204	M	0.63428	1.95	0.09310	N	1	B	0.25719	0.132	B	0.32393	0.145	T	0.40059	-0.9583	9	0.39692	T	0.17	.	.	.	.	.	91	P43360	MAGA6_HUMAN	K	91	ENSP00000329199:E91K;ENSP00000403303:E91K;ENSP00000401806:E91K	ENSP00000329199:E91K	E	+	1	0	MAGEA6	151620237	0.001000	0.12720	0.016000	0.15963	0.012000	0.07955	0.005000	0.13129	-0.212000	0.10109	-1.089000	0.02181	GAA		0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		14	27	0	0	0	0.457914	0	14	27				
RASGRF1	5923	broad.mit.edu	37	15	79294032	79294032	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:79294032G>T	ENST00000419573.3	-	17	2869	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P	RASGRF1_ENST00000394745.3_Silent_p.P81P|RASGRF1_ENST00000558480.2_Silent_p.P849P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	865					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGACTGATTTGGGTGTTGTTG	0.408																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2593-2595)ccC>ccA		Ras protein-specific guanine nucleotide-releasing factor 1							266.0	241.0	249.0					15																	79294032		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79294032G>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2595C>A	15.37:g.79294032G>T						RASGRF1_ENST00000558480.2_Silent_p.P849P|RASGRF1_ENST00000394745.3_Silent_p.P81P|RASGRF1_ENST00000560334.1_5'UTR	p.P865P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			17	2869	-			867					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2595C>A	CCDS10309.1																																																																																				0.408	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		24	93	1	0	2.48779e-11	0.693898	3.01828e-11	24	93				
CCT7	10574	broad.mit.edu	37	2	73470213	73470213	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:73470213C>T	ENST00000258091.5	+	4	490	c.349C>T	c.(349-351)Cac>Tac	p.H117Y	CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_Missense_Mutation_p.H17Y|CCT7_ENST00000540468.1_Missense_Mutation_p.H30Y|CCT7_ENST00000539919.1_Missense_Mutation_p.H73Y|CCT7_ENST00000538797.1_Silent_p.Y6Y	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	117					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGAAGGTTTACACCCCCAGAT	0.517																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(217-219)Cac>Tac		chaperonin containing TCP1, subunit 7 (eta)							105.0	102.0	103.0					2																	73470213		1965	4142	6107	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73470213C>T	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.349C>T	2.37:g.73470213C>T	ENSP00000258091:p.His117Tyr					CCT7_ENST00000258091.5_Missense_Mutation_p.H117Y|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_Missense_Mutation_p.H17Y|CCT7_ENST00000538797.1_Silent_p.Y6Y|CCT7_ENST00000540468.1_Missense_Mutation_p.H30Y|CCT7_ENST00000473786.1_3'UTR	p.H73Y	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			5	588	+			117					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.217C>T	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926302	0.92319	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000399032;ENST00000537131	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	4.95	4.95	0.65309	.	0.047096	0.85682	D	0.000000	D	0.92293	0.7555	H	0.96015	3.755	0.80722	D	1	P;D;B	0.65815	0.925;0.995;0.045	P;D;B	0.63957	0.517;0.92;0.075	D	0.94321	0.7553	10	0.87932	D	0	-7.6551	16.0791	0.80989	0.0:1.0:0.0:0.0	.	30;17;117	B7Z4Z7;F5GZK5;Q99832	.;.;TCPH_HUMAN	Y	30;73;117;73;17	ENSP00000442058:H30Y;ENSP00000437824:H73Y;ENSP00000258091:H117Y;ENSP00000412996:H73Y;ENSP00000444379:H17Y	ENSP00000258091:H117Y	H	+	1	0	CCT7	73323721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.580000	0.82523	2.737000	0.93849	0.563000	0.77884	CAC		0.517	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			6	74	0	0	0	0.217242	0	6	74				
TRBV24-1	28563	broad.mit.edu	37	7	142364532	142364532	+	RNA	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:142364532A>G	ENST00000390397.2	+	0	203									T cell receptor beta variable 24-1																		TGGTATCGACAAGACCCAGGA	0.443																																						ENST00000390397.2																			0																				68.0	65.0	66.0					7																	142364532		1869	4118	5987			28563							g.chr7:142364532A>G	M11951		7q34	2012-02-07			ENSG00000211750	ENSG00000211750		"""T cell receptors / TRB locus"""	12203	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV241, TCRBV15S1, TCRBV24S1			OTTHUMG00000158889		7.37:g.142364532A>G														0	203	+									RNA	SNP	ENST00000390397.2	37																																																																																						0.443	TRBV24-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352499.1	NG_001333		8	20	0	0	0	0.278610	0	8	20				
TNRC6C	57690	broad.mit.edu	37	17	76089205	76089205	+	Splice_Site	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:76089205G>C	ENST00000588061.1	+	17	4889	c.4162G>C	c.(4162-4164)Gaa>Caa	p.E1388Q	TNRC6C_ENST00000544502.1_Splice_Site_p.E1385Q|TNRC6C_ENST00000335749.4_Splice_Site_p.E1385Q|TNRC6C_ENST00000541771.1_Splice_Site_p.E1388Q|TNRC6C_ENST00000588847.1_Splice_Site_p.E1385Q|TNRC6C_ENST00000301624.4_Splice_Site_p.E1388Q			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1388	PABPC1-interacting motif-2 (PAM2).|Required for interaction with PABPC1.|Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGGCCCCCAGGTAAGACCAT	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.e15+1		trinucleotide repeat containing 6C							49.0	46.0	47.0					17																	76089205		2008	4182	6190	SO:0001630	splice_region_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76089205G>C	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4162+1G>C	17.37:g.76089205G>C						TNRC6C_ENST00000541771.1_Splice_Site_p.E1388_splice|TNRC6C_ENST00000588847.1_Splice_Site_p.E1385_splice|TNRC6C_ENST00000588061.1_Splice_Site_p.E1388_splice|TNRC6C_ENST00000544502.1_Splice_Site_p.E1385_splice|TNRC6C_ENST00000301624.4_Splice_Site_p.E1388_splice	p.E1385_splice	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		15	4722	+			1388			Sufficient for translational repression when tethered to a target mRNA.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Splice_Site	SNP	ENST00000588061.1	37	c.4153_splice	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266055	0.95399	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.45668	0.92;0.89;0.89;0.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.72714	-0.4210	10	0.87932	D	0	-18.5752	20.4062	0.99009	0.0:0.0:1.0:0.0	.	1385;1388	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	Q	1388;1385;1385;1388;1388;1385	ENSP00000336783:E1385Q;ENSP00000301624:E1388Q;ENSP00000440310:E1388Q;ENSP00000442421:E1385Q	ENSP00000301624:E1388Q	E	+	1	0	TNRC6C	73600800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.338000	0.96553	2.831000	0.97527	0.655000	0.94253	GAA		0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	Missense_Mutation	10	13	0	0	0	0.361761	0	10	13				
VAPA	9218	broad.mit.edu	37	18	9944946	9944946	+	Intron	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr18:9944946C>T	ENST00000400000.2	+	5	672				VAPA_ENST00000340541.4_Missense_Mutation_p.P148L|VAPA_ENST00000584796.1_Intron	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa						cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						GGGAATGCTCCGACTGTCACT	0.473																																						ENST00000340541.4																			0				breast(1)|lung(2)|prostate(1)	4						c.(442-444)cCg>cTg		VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa							106.0	97.0	100.0					18																	9944946		1996	4178	6174	SO:0001627	intron_variant	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9944946C>T		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.418-5446C>T	18.37:g.9944946C>T						VAPA_ENST00000584796.1_Intron|VAPA_ENST00000400000.2_Intron	p.P148L			Q9P0L0	VAPA_HUMAN			5	638	+			139					A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	ENST00000400000.2	37	c.443C>T	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735394	0.30774	.	.	ENSG00000101558	ENST00000340541	T	0.57436	0.4	5.24	3.42	0.39159	.	1.160920	0.06480	N	0.732744	T	0.37128	0.0992	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24476	-1.0159	8	.	.	.	0.6682	7.5182	0.27612	0.0:0.7199:0.0:0.2801	.	148	Q9P0L0-2	.	L	148	ENSP00000345656:P148L	.	P	+	2	0	VAPA	9934946	0.002000	0.14202	0.012000	0.15200	0.990000	0.78478	0.901000	0.28445	0.837000	0.34925	0.585000	0.79938	CCG		0.473	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			15	27	0	0	0	0.457914	0	15	27				
ANKS6	203286	broad.mit.edu	37	9	101552738	101552738	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:101552738C>A	ENST00000353234.4	-	2	557	c.510G>T	c.(508-510)gtG>gtT	p.V170V	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.V170V			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	170						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGTGATGGTCCACAAAGGCAC	0.652																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(508-510)gtG>gtT		ankyrin repeat and sterile alpha motif domain containing 6							25.0	32.0	30.0					9																	101552738		2057	4205	6262	SO:0001819	synonymous_variant	203286							g.chr9:101552738C>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.510G>T	9.37:g.101552738C>A						ANKS6_ENST00000375018.1_Silent_p.V170V|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000471846.1_5'UTR	p.V170V			Q68DC2	ANKS6_HUMAN			2	557	-		Acute lymphoblastic leukemia(62;0.0527)	170					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.510G>T	CCDS43856.1																																																																																				0.652	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		8	11	1	0	0.00307968	0.278610	0.00323661	8	11				
SLC25A3	5250	broad.mit.edu	37	12	98987764	98987764	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:98987764C>G	ENST00000228318.3	+	2	128	c.8C>G	c.(7-9)tCg>tGg	p.S3W	SLC25A3_ENST00000547534.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000401722.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000548847.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551265.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000549338.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551917.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000188376.5_Missense_Mutation_p.S3W|SLC25A3_ENST00000552981.1_Missense_Mutation_p.S3W	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	3					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AAGATGTTCTCGTCCGTGGCG	0.662																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(7-9)tCg>tGg		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							36.0	37.0	36.0					12																	98987764		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98987764C>G		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.8C>G	12.37:g.98987764C>G	ENSP00000228318:p.Ser3Trp					SLC25A3_ENST00000551917.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551265.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000548847.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000549338.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000401722.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000552981.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000228318.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000547534.1_Missense_Mutation_p.S3W	p.S3W	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	1	362	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	3					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.8C>G	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812352	0.90707	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000548046;ENST00000552981;ENST00000551265;ENST00000550695;ENST00000547534;ENST00000549338;ENST00000548847	T;T;T;T;D;T;D;D;T;T	0.87179	-1.22;-1.22;-0.96;-0.96;-2.22;-1.22;-2.18;-1.82;-1.22;-1.26	4.65	4.65	0.58169	.	0.128156	0.53938	D	0.000060	D	0.93019	0.7778	M	0.79693	2.465	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	P;P;D	0.67725	0.902;0.898;0.953	D	0.94006	0.7280	10	0.87932	D	0	-2.3528	15.8864	0.79251	0.0:1.0:0.0:0.0	.	3;3;3	F8VVM2;Q00325;Q00325-2	.;MPCP_HUMAN;.	W	3	ENSP00000383898:S3W;ENSP00000188376:S3W;ENSP00000228318:S3W;ENSP00000447310:S3W;ENSP00000447339:S3W;ENSP00000448708:S3W;ENSP00000449479:S3W;ENSP00000449793:S3W;ENSP00000447740:S3W;ENSP00000449166:S3W	ENSP00000188376:S3W	S	+	2	0	SLC25A3	97511895	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.691000	0.68249	2.414000	0.81942	0.561000	0.74099	TCG		0.662	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		11	29	0	0	0	0.457914	0	11	29				
RNF213	57674	broad.mit.edu	37	17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:78351573G>A	ENST00000582970.1	+	54	13665	c.13522G>A	c.(13522-13524)Ggc>Agc	p.G4508S	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4508					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGTCCCAACGGCCATCCTTG	0.532																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13522-13524)Ggc>Agc		ring finger protein 213							315.0	266.0	282.0					17																	78351573		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78351573G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13522G>A	17.37:g.78351573G>A	ENSP00000464087:p.Gly4508Ser					CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S	p.G4508S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		54	13665	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13522G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113576	0.94339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.55413	0.52	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.75777	2.31	0.44587	D	0.997552	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	T	0.76154	-0.3063	10	0.72032	D	0.01	.	17.3883	0.87423	0.0:0.0:1.0:0.0	.	4557;2581	C9JCP4;Q63HN8	.;RN213_HUMAN	S	4508;4557;2581	ENSP00000338218:G2581S	ENSP00000338218:G2581S	G	+	1	0	RNF213	75966168	0.997000	0.39634	0.349000	0.25694	0.985000	0.73830	5.094000	0.64523	2.529000	0.85273	0.655000	0.94253	GGC		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		68	106	0	0	0	0.870114	0	68	106				
GRIN2B	2904	broad.mit.edu	37	12	13717063	13717063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:13717063C>T	ENST00000609686.1	-	13	3318	c.3109G>A	c.(3109-3111)Gac>Aac	p.D1037N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1037					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGTACAGGTCACTGAGCTGG	0.582																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3109-3111)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						80.0	64.0	70.0					12																	13717063		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717063C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3109G>A	12.37:g.13717063C>T	ENSP00000477455:p.Asp1037Asn						p.D1037N	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3318	-			1037					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3109G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227774	0.39399	.	.	ENSG00000150086	ENST00000279593	T	0.11169	2.8	5.57	5.57	0.84162	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.131197	0.50627	D	0.000118	T	0.09024	0.0223	N	0.16478	0.41	0.80722	D	1	B	0.17465	0.022	B	0.20184	0.028	T	0.33445	-0.9868	10	0.18710	T	0.47	.	19.555	0.95342	0.0:1.0:0.0:0.0	.	1037	Q13224	NMDE2_HUMAN	N	1037	ENSP00000279593:D1037N	ENSP00000279593:D1037N	D	-	1	0	GRIN2B	13608330	1.000000	0.71417	0.957000	0.39632	0.961000	0.63080	7.742000	0.85008	2.633000	0.89246	0.650000	0.86243	GAC		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			25	16	0	0	0	0.681144	0	25	16				
ZFP36L1	677	broad.mit.edu	37	14	69256533	69256533	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:69256533T>A	ENST00000439696.2	-	2	1035	c.734A>T	c.(733-735)gAt>gTt	p.D245V	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D245V|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	245					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGGTGCCATCGGGCAGGGT	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(733-735)gAt>gTt		ZFP36 ring finger protein-like 1							73.0	86.0	82.0					14																	69256533		2201	4300	6501	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256533T>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.734A>T	14.37:g.69256533T>A	ENSP00000388402:p.Asp245Val		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D245V	p.D245V	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1035	-			245					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.734A>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624992	0.66901	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.31769	1.48;1.48	4.64	4.64	0.57946	.	0.062950	0.64402	D	0.000010	T	0.48390	0.1497	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50145	-0.8862	10	0.72032	D	0.01	-8.6969	14.2145	0.65783	0.0:0.0:0.0:1.0	.	245	Q07352	TISB_HUMAN	V	245;245;228	ENSP00000388402:D245V;ENSP00000337386:D245V	ENSP00000337386:D245V	D	-	2	0	ZFP36L1	68326286	1.000000	0.71417	0.986000	0.45419	0.922000	0.55478	2.993000	0.49425	1.947000	0.56498	0.477000	0.44152	GAT		0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			80	111	0	0	0	0.870114	0	80	111				
PLCB3	5331	broad.mit.edu	37	11	64033990	64033990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:64033990G>C	ENST00000540288.1	+	29	3483	c.3380G>C	c.(3379-3381)cGg>cCg	p.R1127P	PLCB3_ENST00000325234.5_Missense_Mutation_p.R1060P|PLCB3_ENST00000279230.6_Missense_Mutation_p.R1127P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1127					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ATTAACCGTCGGCACATCACT	0.637																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(3379-3381)cGg>cCg		phospholipase C, beta 3 (phosphatidylinositol-specific)							115.0	103.0	107.0					11																	64033990		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033990G>C	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3380G>C	11.37:g.64033990G>C	ENSP00000443631:p.Arg1127Pro					PLCB3_ENST00000325234.5_Missense_Mutation_p.R1060P|PLCB3_ENST00000279230.6_Missense_Mutation_p.R1127P	p.R1127P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			29	3483	+			1127					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.3380G>C	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018474	0.75275	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.48836	0.8;0.8;0.8	4.83	3.89	0.44902	PLC-beta, C-terminal (1);	0.506167	0.20843	N	0.084675	T	0.57858	0.2082	L	0.44542	1.39	0.24444	N	0.994517	D;D	0.89917	1.0;0.992	D;P	0.68943	0.961;0.892	T	0.48647	-0.9017	10	0.72032	D	0.01	.	12.4686	0.55773	0.0852:0.0:0.9148:0.0	.	1060;1127	G5E960;Q01970	.;PLCB3_HUMAN	P	1127;1127;1060	ENSP00000279230:R1127P;ENSP00000443631:R1127P;ENSP00000324660:R1060P	ENSP00000279230:R1127P	R	+	2	0	PLCB3	63790566	0.856000	0.29760	0.971000	0.41717	0.982000	0.71751	3.570000	0.53834	2.523000	0.85059	0.555000	0.69702	CGG		0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			7	42	0	0	0	0.278610	0	7	42				
KLF15	28999	broad.mit.edu	37	3	126071260	126071260	+	Missense_Mutation	SNP	G	G	A	rs368953798		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:126071260G>A	ENST00000296233.3	-	2	736	c.506C>T	c.(505-507)gCc>gTc	p.A169V	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	169					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTGGCTGCAGGCATCCAAGTC	0.612																																						ENST00000296233.3																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(505-507)gCc>gTc		Kruppel-like factor 15		G	VAL/ALA	0,4406		0,0,2203	46.0	50.0	49.0		506	2.4	0.5	3		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLF15	NM_014079.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	169/417	126071260	1,13005	2203	4300	6503	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071260G>A	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.506C>T	3.37:g.126071260G>A	ENSP00000296233:p.Ala169Val						p.A169V	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	736	-			169						Missense_Mutation	SNP	ENST00000296233.3	37	c.506C>T	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972203	0.18736	0.0	1.16E-4	ENSG00000163884	ENST00000296233	T	0.07327	3.2	4.25	2.4	0.29515	.	0.634782	0.16523	N	0.210718	T	0.06142	0.0159	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33292	-0.9874	10	0.30078	T	0.28	.	6.4398	0.21843	0.101:0.0:0.7134:0.1857	.	169	Q9UIH9	KLF15_HUMAN	V	169	ENSP00000296233:A169V	ENSP00000296233:A169V	A	-	2	0	KLF15	127553950	0.058000	0.20735	0.472000	0.27241	0.719000	0.41307	0.878000	0.28126	1.065000	0.40693	0.491000	0.48974	GCC		0.612	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		25	22	0	0	0	0.654019	0	25	22				
ANKRD26	22852	broad.mit.edu	37	10	27352931	27352931	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:27352931T>C	ENST00000376087.4	-	12	1514	c.1349A>G	c.(1348-1350)aAt>aGt	p.N450S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.N499S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	450					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGCTTGTTCATTTCCTATATT	0.323																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1348-1350)aAt>aGt		ankyrin repeat domain 26							93.0	82.0	85.0					10																	27352931		1790	4068	5858	SO:0001583	missense	22852					centrosome		g.chr10:27352931T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1349A>G	10.37:g.27352931T>C	ENSP00000365255:p.Asn450Ser					ANKRD26_ENST00000436985.2_Missense_Mutation_p.N499S	p.N450S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			12	1514	-			450					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.1349A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	6.088	0.384546	0.11524	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.32753	1.48;1.44	4.57	-2.63	0.06133	.	.	.	.	.	T	0.15739	0.0379	L	0.35341	1.055	0.09310	N	1	B;B;B	0.20671	0.047;0.028;0.028	B;B;B	0.15484	0.013;0.006;0.006	T	0.36016	-0.9765	9	0.08837	T	0.75	.	4.5899	0.12301	0.1469:0.3617:0.0:0.4915	.	450;450;499	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	S	450;499	ENSP00000365255:N450S;ENSP00000405112:N499S	ENSP00000365255:N450S	N	-	2	0	ANKRD26	27392937	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.271000	0.18626	-0.588000	0.05882	0.459000	0.35465	AAT		0.323	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			21	15	0	0	0	0.654019	0	21	15				
GPR27	2850	broad.mit.edu	37	3	71804252	71804252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:71804252C>T	ENST00000304411.2	+	1	1052	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V	EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	351					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGCTTCAGGGCCCAGTTCCCC	0.657																																						ENST00000304411.2																			0				kidney(1)|lung(2)|ovary(1)|prostate(1)	5						c.(1051-1053)gCc>gTc		G protein-coupled receptor 27							15.0	15.0	15.0					3																	71804252		2184	4274	6458	SO:0001583	missense	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804252C>T	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1052C>T	3.37:g.71804252C>T	ENSP00000303149:p.Ala351Val						p.A351V	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	1052	+		Prostate(10;0.00899)	351						Missense_Mutation	SNP	ENST00000304411.2	37	c.1052C>T	CCDS2915.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531038	0.85706	.	.	ENSG00000170837	ENST00000304411	T	0.37752	1.18	4.71	4.71	0.59529	.	0.000000	0.64402	U	0.000001	T	0.32071	0.0817	L	0.32530	0.975	0.58432	D	0.999999	D	0.53151	0.958	B	0.41894	0.369	T	0.23619	-1.0183	10	0.59425	D	0.04	-7.4047	17.7308	0.88377	0.0:1.0:0.0:0.0	.	351	Q9NS67	GPR27_HUMAN	V	351	ENSP00000303149:A351V	ENSP00000303149:A351V	A	+	2	0	GPR27	71886942	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.472000	0.80996	2.171000	0.68590	0.460000	0.39030	GCC		0.657	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		9	5	0	0	0	0.307466	0	9	5				
WNT3	7473	broad.mit.edu	37	17	44845973	44845973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:44845973C>G	ENST00000225512.5	-	4	943	c.781G>C	c.(781-783)Gcc>Ccc	p.A261P		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	261					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGTACTTGGCCCGGAGGGTC	0.592																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(781-783)Gcc>Ccc		wingless-type MMTV integration site family, member 3							87.0	92.0	90.0					17																	44845973		2203	4300	6503	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44845973C>G	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.781G>C	17.37:g.44845973C>G	ENSP00000225512:p.Ala261Pro						p.A261P	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	943	-			261					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.781G>C	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	7.852	0.724180	0.15439	.	.	ENSG00000108379	ENST00000225512	T	0.75821	-0.97	5.06	5.06	0.68205	.	0.538616	0.19755	N	0.106804	T	0.35856	0.0946	N	0.00119	-2.075	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.57312	-0.7833	10	0.02654	T	1	.	18.6237	0.91330	0.0:1.0:0.0:0.0	.	261	P56703	WNT3_HUMAN	P	261	ENSP00000225512:A261P	ENSP00000225512:A261P	A	-	1	0	WNT3	42201142	0.994000	0.37717	0.995000	0.50966	0.973000	0.67179	3.122000	0.50446	2.620000	0.88729	0.561000	0.74099	GCC		0.592	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		51	60	0	0	0	0.870114	0	51	60				
SSPO	23145	broad.mit.edu	37	7	149480698	149480698	+	RNA	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:149480698T>C	ENST00000378016.2	+	0	2404							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGTGCTGTCTGCCTATGC	0.637																																						ENST00000378016.2																			0													SCO-spondin							80.0	90.0	87.0					7																	149480698		2188	4271	6459			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149480698T>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149480698T>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2404	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				37	82	0	0	0	0.812448	0	37	82				
OR11L1	391189	broad.mit.edu	37	1	248004560	248004560	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:248004560C>A	ENST00000355784.2	-	1	694	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	213						extracellular vesicular exosome (GO:0070062)|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(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCCAGTGTCAGAAAAAAAC	0.507																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(637-639)ctG>ctT		olfactory receptor, family 11, subfamily L, member 1							82.0	85.0	84.0					1																	248004560		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004560C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.639G>T	1.37:g.248004560C>A							p.L213L	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	694	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		213						Silent	SNP	ENST00000355784.2	37	c.639G>T	CCDS31098.1																																																																																				0.507	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		28	39	1	0	1.16021e-09	0.717897	1.35769e-09	28	39				
MUC6	4588	broad.mit.edu	37	11	1016020	1016020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:1016020C>T	ENST00000421673.2	-	31	6831	c.6781G>A	c.(6781-6783)Gcc>Acc	p.A2261T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2261	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGCAGGGGCGGTGTGGGTG	0.627																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6781-6783)Gcc>Acc		mucin 6, oligomeric mucus/gel-forming							125.0	148.0	140.0					11																	1016020		2175	4259	6434	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016020C>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6781G>A	11.37:g.1016020C>T	ENSP00000406861:p.Ala2261Thr						p.A2261T	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6831	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2261			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6781G>A	CCDS44513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.465|1.465	-0.561399|-0.561399	0.03939|0.03939	.|.	.|.	ENSG00000184956|ENSG00000184956	ENST00000421673|ENST00000532016	T|.	0.18810|.	2.19|.	3.23|3.23	-5.08|-5.08	0.02929|0.02929	.|.	.|.	.|.	.|.	.|.	T|T	0.09468|0.09468	0.0233|0.0233	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.25117|0.25117	-1.0141|-1.0141	9|5	0.02654|.	T|.	1|.	.|.	0.3973|0.3973	0.00420|0.00420	0.281:0.1791:0.2896:0.2504|0.281:0.1791:0.2896:0.2504	.|.	2261|.	Q6W4X9|.	MUC6_HUMAN|.	T|H	2261|45	ENSP00000406861:A2261T|.	ENSP00000406861:A2261T|.	A|R	-|-	1|2	0|0	MUC6|MUC6	1006020|1006020	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.168000|-1.168000	0.03123|0.03123	-1.224000|-1.224000	0.02581|0.02581	-2.948000|-2.948000	0.00085|0.00085	GCC|CGC		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		37	162	0	0	0	0.840704	0	37	162				
ATAD5	79915	broad.mit.edu	37	17	29162894	29162894	+	Silent	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:29162894A>C	ENST00000321990.4	+	2	2173	c.1795A>C	c.(1795-1797)Aga>Cga	p.R599R	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	599					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGATCTGGAAGAATTAGCAG	0.398																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(1795-1797)Aga>Cga		ATPase family, AAA domain containing 5							93.0	86.0	88.0					17																	29162894		2203	4300	6503	SO:0001819	synonymous_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162894A>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1795A>C	17.37:g.29162894A>C						CTD-2349P21.11_ENST00000580873.1_RNA	p.R599R	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	2173	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	599					Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	c.1795A>C	CCDS11260.1																																																																																				0.398	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		24	87	0	0	0	0.693898	0	24	87				
PRB1	5542	broad.mit.edu	37	12	11508453	11508453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:11508453G>T	ENST00000500254.2	-	1	72	c.35C>A	c.(34-36)gCc>gAc	p.A12D	PRB1_ENST00000545626.1_Missense_Mutation_p.A12D|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGAGCTCAGGGCCAGCAAGGC	0.502																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(34-36)gCc>gAc		proline-rich protein BstNI subfamily 1							89.0	84.0	86.0					12																	11508453		2175	4274	6449	SO:0001583	missense	5542					extracellular region		g.chr12:11508453G>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.35C>A	12.37:g.11508453G>T	ENSP00000420826:p.Ala12Asp					PRB1_ENST00000545626.1_Missense_Mutation_p.A12D|PRB1_ENST00000546254.1_Intron	p.A12D	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		1	72	-			12					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.35C>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	4.191	0.034142	0.08101	.	.	ENSG00000251655	ENST00000545626;ENST00000500254	T;T	0.20598	2.06;3.08	1.39	0.474	0.16768	.	.	.	.	.	T	0.37404	0.1002	M	0.83012	2.62	0.43693	D	0.996144	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.61328	0.887;0.887;0.887	T	0.20140	-1.0284	9	0.59425	D	0.04	.	3.6437	0.08177	0.2522:0.0:0.7478:0.0	.	19;12;12	Q86YA1;G3V1R1;G3V1M9	.;.;.	D	12	ENSP00000444249:A12D;ENSP00000420826:A12D	ENSP00000420826:A12D	A	-	2	0	PRB1	11399720	0.559000	0.26562	0.662000	0.29724	0.027000	0.11550	-0.260000	0.08708	0.167000	0.19631	0.558000	0.71614	GCC		0.502	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		6	45	1	0	5.18039e-06	0.278610	5.73668e-06	6	45				
OR5H2	79310	broad.mit.edu	37	3	98002139	98002139	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:98002139A>G	ENST00000355273.2	+	1	408	c.408A>G	c.(406-408)ctA>ctG	p.L136L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	136						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(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AACCTTTACTATATCCAGTGA	0.368																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(406-408)ctA>ctG		olfactory receptor, family 5, subfamily H, member 2							113.0	103.0	106.0					3																	98002139		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002139A>G		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.408A>G	3.37:g.98002139A>G						RP11-325B23.2_ENST00000508616.1_lincRNA	p.L136L	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN			1	408	+			136					Q6IF87	Silent	SNP	ENST00000355273.2	37	c.408A>G	CCDS33801.1																																																																																				0.368	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			22	76	0	0	0	0.654019	0	22	76				
DDB1	1642	broad.mit.edu	37	11	61070101	61070101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:61070101G>A	ENST00000301764.7	-	24	3462	c.3065C>T	c.(3064-3066)aCc>aTc	p.T1022I	DDB1_ENST00000450997.2_Missense_Mutation_p.T333I|DDB1_ENST00000538470.1_Missense_Mutation_p.T69I|DDB1_ENST00000451943.2_Missense_Mutation_p.T9I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1022	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGTGTGGGGGTGGAAGTCTC	0.582								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3064-3066)aCc>aTc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							147.0	152.0	151.0					11																	61070101		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61070101G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3065C>T	11.37:g.61070101G>A	ENSP00000301764:p.Thr1022Ile					DDB1_ENST00000450997.2_Missense_Mutation_p.T333I|DDB1_ENST00000538470.1_Missense_Mutation_p.T69I|DDB1_ENST00000451943.2_Missense_Mutation_p.T9I	p.T1022I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			24	3462	-			1022			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.3065C>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384093	0.61845	.	.	ENSG00000167986	ENST00000301764;ENST00000451943;ENST00000450997;ENST00000538470;ENST00000539332	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.03	5.03	0.67393	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.053234	0.85682	D	0.000000	T	0.33381	0.0861	L	0.36672	1.1	0.80722	D	1	B;B	0.16166	0.016;0.0	B;B	0.15484	0.013;0.002	T	0.17992	-1.0351	10	0.07813	T	0.8	-21.9511	18.3488	0.90330	0.0:0.0:1.0:0.0	.	333;1022	B4DG00;Q16531	.;DDB1_HUMAN	I	1022;9;333;69;188	ENSP00000301764:T1022I;ENSP00000399813:T9I;ENSP00000388705:T333I;ENSP00000441522:T69I;ENSP00000439787:T188I	ENSP00000301764:T1022I	T	-	2	0	DDB1	60826677	1.000000	0.71417	0.946000	0.38457	0.992000	0.81027	9.855000	0.99526	2.336000	0.79503	0.561000	0.74099	ACC		0.582	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		90	117	0	0	0	0.870114	0	90	117				
MALAT1	378938	broad.mit.edu	37	11	65273243	65273243	+	lincRNA	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:65273243A>G	ENST00000534336.1	+	0	8011					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AAGTAGCTCTATTATAATACT	0.373																																						ENST00000534336.1																			0																				94.0	92.0	93.0					11																	65273243		874	1988	2862			378938							g.chr11:65273243A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273243A>G								NR_002819.2						0	8011	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.373	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		21	43	0	0	0	0.639603	0	21	43				
FLG	2312	broad.mit.edu	37	1	152283935	152283935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:152283935C>A	ENST00000368799.1	-	3	3462	c.3427G>T	c.(3427-3429)Gga>Tga	p.G1143*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1143	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGGATCCTTGTCTTCGT	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3427-3429)Gga>Tga		filaggrin							166.0	201.0	189.0					1																	152283935		2203	4296	6499	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283935C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3427G>T	1.37:g.152283935C>A	ENSP00000357789:p.Gly1143*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G1143*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3462	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1143			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.3427G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	37	6.284293	0.97440	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.7	-2.2	0.06994	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	0.8456	0.01161	0.1626:0.367:0.1594:0.311	.	.	.	.	X	1143	.	ENSP00000357789:G1143X	G	-	1	0	FLG	150550559	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.658000	0.05329	-0.340000	0.08388	-1.614000	0.00798	GGA		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		12	285	1	0	1.05317e-09	0.457914	1.24124e-09	12	285				
PFKFB2	5208	broad.mit.edu	37	1	207242833	207242833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:207242833G>A	ENST00000367080.3	+	11	1176	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	PFKFB2_ENST00000545806.1_Missense_Mutation_p.R318Q|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R165Q|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R253Q|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R351Q|PFKFB2_ENST00000473310.1_3'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	351	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTTGCACTTCGAGATCAAGAG	0.458																																						ENST00000367080.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1051-1053)cGa>cAa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2							182.0	158.0	166.0					1																	207242833		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207242833G>A		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1052G>A	1.37:g.207242833G>A	ENSP00000356047:p.Arg351Gln					PFKFB2_ENST00000545806.1_Missense_Mutation_p.R318Q|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R351Q|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R253Q|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R165Q	p.R351Q	NM_006212.2	NP_006203.2	O60825	F262_HUMAN			11	1176	+	Prostate(682;0.19)		351			Fructose-2,6-bisphosphatase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.1052G>A	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605117	0.96626	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806;ENST00000541914	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.77	4.86	0.63082	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	0.987;0.998;1.0;0.998	P;P;D;P	0.77004	0.627;0.659;0.989;0.772	D	0.86232	0.1638	10	0.72032	D	0.01	.	14.1146	0.65144	0.0722:0.0:0.9278:0.0	.	165;253;351;351	B4DI16;B4DY91;Q5VVQ3;O60825	.;.;.;F262_HUMAN	Q	253;351;351;318;165	ENSP00000408717:R253Q;ENSP00000356047:R351Q;ENSP00000356046:R351Q;ENSP00000439420:R318Q;ENSP00000440878:R165Q	ENSP00000356046:R351Q	R	+	2	0	PFKFB2	205309456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.787000	0.99055	1.444000	0.47605	0.655000	0.94253	CGA		0.458	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			14	67	0	0	0	0.479597	0	14	67				
ZNF431	170959	broad.mit.edu	37	19	21365730	21365730	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:21365730A>G	ENST00000311048.7	+	5	768	c.624A>G	c.(622-624)aaA>aaG	p.K208K	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	208					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AATGTAAAAAATGTGGCAAAT	0.284																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(622-624)aaA>aaG		zinc finger protein 431							36.0	39.0	38.0					19																	21365730		2201	4293	6494	SO:0001819	synonymous_variant	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365730A>G	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.624A>G	19.37:g.21365730A>G						ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	p.K208K	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	768	+			208					A8KAK7|Q8IWC4	Silent	SNP	ENST00000311048.7	37	c.624A>G	CCDS32979.1																																																																																				0.284	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		12	32	0	0	0	0.411799	0	12	32				
KLHDC7B	113730	broad.mit.edu	37	22	50987418	50987418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:50987418C>T	ENST00000395676.2	+	1	957	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	275										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCAGCCTGCGGACCGGCCG	0.746																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(823-825)Cgg>Tgg		kelch domain containing 7B							6.0	7.0	7.0					22																	50987418		1779	3431	5210	SO:0001583	missense	113730							g.chr22:50987418C>T	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.823C>T	22.37:g.50987418C>T	ENSP00000379034:p.Arg275Trp						p.R275W	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	957	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	275						Missense_Mutation	SNP	ENST00000395676.2	37	c.823C>T	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724335	0.48728	.	.	ENSG00000130487	ENST00000395676	D	0.91843	-2.92	4.6	3.55	0.40652	.	0.000000	0.33534	U	0.004815	D	0.95465	0.8527	M	0.80982	2.52	0.30721	N	0.748233	D	0.89917	1.0	D	0.97110	1.0	D	0.93328	0.6698	10	0.87932	D	0	.	11.638	0.51215	0.1795:0.8205:0.0:0.0	.	275	Q96G42	KLD7B_HUMAN	W	275	ENSP00000379034:R275W	ENSP00000379034:R275W	R	+	1	2	KLHDC7B	49334284	0.768000	0.28519	0.632000	0.29296	0.078000	0.17371	2.394000	0.44450	0.907000	0.36646	0.306000	0.20318	CGG		0.746	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		10	5	0	0	0	0.361761	0	10	5				
TXK	7294	broad.mit.edu	37	4	48096214	48096214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:48096214C>A	ENST00000264316.4	-	8	674	c.589G>T	c.(589-591)Gag>Tag	p.E197*	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	197	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATGGCAGCCTCCGTACTTCTA	0.368																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(589-591)Gag>Tag		TXK tyrosine kinase							102.0	94.0	97.0					4																	48096214		2203	4300	6503	SO:0001587	stop_gained	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48096214C>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.589G>T	4.37:g.48096214C>A	ENSP00000264316:p.Glu197*					TXK_ENST00000510457.1_5'UTR	p.E197*	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			8	674	-			197			SH2.		Q14220	Nonsense_Mutation	SNP	ENST00000264316.4	37	c.589G>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164862	0.38217	.	.	ENSG00000074966	ENST00000264316	.	.	.	5.23	3.46	0.39613	.	0.563358	0.17778	N	0.162359	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.042	0.42164	0.1403:0.5705:0.2892:0.0	.	.	.	.	X	197	.	ENSP00000264316:E197X	E	-	1	0	TXK	47790971	0.290000	0.24343	0.319000	0.25293	0.007000	0.05969	1.897000	0.39799	0.731000	0.32448	0.650000	0.86243	GAG		0.368	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		4	30	1	0	0.00909568	0.150653	0.00937992	4	30				
IGSF21	84966	broad.mit.edu	37	1	18691843	18691843	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:18691843A>C	ENST00000251296.1	+	6	1050	c.667A>C	c.(667-669)Acc>Ccc	p.T223P		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	223						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCTGGATGACACCAAGATGCA	0.652																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(667-669)Acc>Ccc		immunoglobin superfamily, member 21							56.0	62.0	60.0					1																	18691843		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18691843A>C	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.667A>C	1.37:g.18691843A>C	ENSP00000251296:p.Thr223Pro						p.T223P	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1050	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	223					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.667A>C	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.532932|4.532932	0.85812|0.85812	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000412684|ENST00000251296	.|T	.|0.60424	.|0.19	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65260|0.65260	0.2674|0.2674	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.81914	.|0.995	T|T	0.65421|0.65421	-0.6172|-0.6172	5|10	.|0.42905	.|T	.|0.14	-12.7595|-12.7595	13.8553|13.8553	0.63522|0.63522	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|223	.|Q96ID5	.|IGS21_HUMAN	P|P	175|223	.|ENSP00000251296:T223P	.|ENSP00000251296:T223P	H|T	+|+	2|1	0|0	IGSF21|IGSF21	18564430|18564430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.384000|8.384000	0.90160|0.90160	2.023000|2.023000	0.59567|0.59567	0.459000|0.459000	0.35465|0.35465	CAC|ACC		0.652	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		16	47	0	0	0	0.500413	0	16	47				
JAG1	182	broad.mit.edu	37	20	10639359	10639359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:10639359T>C	ENST00000254958.5	-	4	966	c.451A>G	c.(451-453)Att>Gtt	p.I151V	JAG1_ENST00000423891.2_5'UTR	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	151					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTTTCAATAATACTGTCAGGT	0.448									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(451-453)Att>Gtt		jagged 1							89.0	89.0	89.0					20																	10639359		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10639359T>C	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.451A>G	20.37:g.10639359T>C	ENSP00000254958:p.Ile151Val					JAG1_ENST00000423891.2_5'UTR	p.I151V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			4	966	-			151					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.451A>G	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123205	0.37436	.	.	ENSG00000101384	ENST00000254958	D	0.85171	-1.95	5.32	5.32	0.75619	.	0.055797	0.64402	D	0.000002	T	0.74442	0.3717	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.69487	-0.5132	10	0.35671	T	0.21	.	11.3518	0.49592	0.0:0.0:0.1517:0.8483	.	151	P78504	JAG1_HUMAN	V	151	ENSP00000254958:I151V	ENSP00000254958:I151V	I	-	1	0	JAG1	10587359	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	0.920000	0.28705	2.032000	0.59987	0.416000	0.27883	ATT		0.448	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		16	80	0	0	0	0.557998	0	16	80				
HNRNPF	3185	broad.mit.edu	37	10	43882508	43882508	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:43882508T>C	ENST00000544000.1	-	4	1232	c.825A>G	c.(823-825)agA>agG	p.R275R	HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Silent_p.R275R|HNRNPF_ENST00000337970.3_Silent_p.R275R|HNRNPF_ENST00000356053.3_Silent_p.R275R|HNRNPF_ENST00000443950.2_Silent_p.R275R	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	275					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGTCGCCGTATCTGTGGTCAT	0.557																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(823-825)agA>agG		heterogeneous nuclear ribonucleoprotein F							59.0	52.0	54.0					10																	43882508		2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882508T>C		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.825A>G	10.37:g.43882508T>C						HNRNPF_ENST00000337970.3_Silent_p.R275R|HNRNPF_ENST00000357065.4_Silent_p.R275R|HNRNPF_ENST00000544000.1_Silent_p.R275R|HNRNPF_ENST00000356053.3_Silent_p.R275R	p.R275R	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1311	-			275					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.825A>G	CCDS7204.1																																																																																				0.557	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			19	16	0	0	0	0.557998	0	19	16				
SH3RF2	153769	broad.mit.edu	37	5	145379827	145379827	+	Silent	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:145379827C>G	ENST00000511217.1	+	2	637	c.585C>G	c.(583-585)ctC>ctG	p.L195L	SH3RF2_ENST00000359120.4_Silent_p.L195L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	195	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGGCCCTCTACAACTTCG	0.602																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(583-585)ctC>ctG		SH3 domain containing ring finger 2							39.0	42.0	41.0					5																	145379827		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145379827C>G	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.585C>G	5.37:g.145379827C>G						SH3RF2_ENST00000359120.4_Silent_p.L195L	p.L195L			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	637	+			195			SH3 2.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.585C>G	CCDS4280.1																																																																																				0.602	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		14	11	0	0	0	0.479597	0	14	11				
NLGN1	22871	broad.mit.edu	37	3	173998976	173998976	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:173998976C>T	ENST00000457714.1	+	7	2784	c.2355C>T	c.(2353-2355)ccC>ccT	p.P785P	NLGN1_ENST00000545397.1_Silent_p.P785P|NLGN1_ENST00000401917.3_Silent_p.P825P|NLGN1_ENST00000361589.4_Silent_p.P785P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	802					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAATGATTCCCAACACTATAC	0.483																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2353-2355)ccC>ccT		neuroligin 1							181.0	164.0	170.0					3																	173998976		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998976C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2355C>T	3.37:g.173998976C>T						NLGN1_ENST00000361589.4_Silent_p.P785P|NLGN1_ENST00000401917.3_Silent_p.P825P|NLGN1_ENST00000545397.1_Silent_p.P785P	p.P785P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2784	+	Ovarian(172;0.0025)		802					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.2355C>T	CCDS3222.1																																																																																				0.483	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		18	77	0	0	0	0.520397	0	18	77				
ANKS6	203286	broad.mit.edu	37	9	101552737	101552737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:101552737C>A	ENST00000353234.4	-	2	558	c.511G>T	c.(511-513)Gac>Tac	p.D171Y	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Missense_Mutation_p.D171Y			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	171						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGGTGATGGTCCACAAAGGCA	0.652																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(511-513)Gac>Tac		ankyrin repeat and sterile alpha motif domain containing 6							25.0	33.0	30.0					9																	101552737		2057	4204	6261	SO:0001583	missense	203286							g.chr9:101552737C>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.511G>T	9.37:g.101552737C>A	ENSP00000297837:p.Asp171Tyr					ANKS6_ENST00000375018.1_Missense_Mutation_p.D171Y|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000471846.1_5'UTR	p.D171Y			Q68DC2	ANKS6_HUMAN			2	558	-		Acute lymphoblastic leukemia(62;0.0527)	171					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.511G>T	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092074	0.36952	.	.	ENSG00000165138	ENST00000375018;ENST00000353234	T;T	0.68903	-0.36;-0.36	5.67	4.78	0.61160	Ankyrin repeat-containing domain (4);	0.137066	0.64402	D	0.000004	T	0.80874	0.4707	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82946	-0.0205	10	0.72032	D	0.01	-32.1037	12.3481	0.55132	0.0:0.9182:0.0:0.0818	.	171	Q68DC2	ANKS6_HUMAN	Y	171	ENSP00000364158:D171Y;ENSP00000297837:D171Y	ENSP00000297837:D171Y	D	-	1	0	ANKS6	100592558	1.000000	0.71417	0.991000	0.47740	0.041000	0.13682	5.477000	0.66799	1.395000	0.46643	0.561000	0.74099	GAC		0.652	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		7	11	1	0	0.00198382	0.248553	0.00211181	7	11				
PRPF4	9128	broad.mit.edu	37	9	116038996	116038996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:116038996A>G	ENST00000374198.4	+	2	301	c.199A>G	c.(199-201)Ata>Gta	p.I67V	PRPF4_ENST00000374199.4_Missense_Mutation_p.I66V|CDC26_ENST00000374206.3_5'Flank|CDC26_ENST00000490408.1_5'Flank	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	67					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AAATATTAATATAACCTCTGG	0.388																																						ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(196-198)Ata>Gta		pre-mRNA processing factor 4							141.0	156.0	151.0					9																	116038996		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116038996A>G	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.199A>G	9.37:g.116038996A>G	ENSP00000363313:p.Ile67Val					PRPF4_ENST00000374198.4_Missense_Mutation_p.I67V	p.I66V			O43172	PRP4_HUMAN			2	597	+			67					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.196A>G	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325931	0.60743	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.62364	0.03;0.07	5.97	5.97	0.96955	.	0.048028	0.85682	D	0.000000	T	0.57198	0.2037	L	0.49350	1.555	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.51841	-0.8654	10	0.29301	T	0.29	.	15.2802	0.73778	1.0:0.0:0.0:0.0	.	82;67	Q59EL4;O43172	.;PRP4_HUMAN	V	66;67	ENSP00000363315:I66V;ENSP00000363313:I67V	ENSP00000363313:I67V	I	+	1	0	PRPF4	115078817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.343000	0.72986	2.289000	0.77006	0.459000	0.35465	ATA		0.388	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		87	101	0	0	0	0.870114	0	87	101				
ADD2	119	broad.mit.edu	37	2	70901925	70901925	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:70901925G>A	ENST00000264436.4	-	14	2070	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	ADD2_ENST00000407644.2_Silent_p.D542D|ADD2_ENST00000355733.3_Silent_p.D542D	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	542					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGGTATCCTCGTCTCCCTTGG	0.557																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1624-1626)gaC>gaT		adducin 2 (beta)							199.0	182.0	188.0					2																	70901925		2203	4300	6503	SO:0001819	synonymous_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70901925G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1626C>T	2.37:g.70901925G>A						ADD2_ENST00000407644.2_Silent_p.D542D|ADD2_ENST00000355733.3_Silent_p.D542D	p.D542D	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			14	2070	-			542					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	c.1626C>T	CCDS1906.1																																																																																				0.557	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		46	30	0	0	0	0.870114	0	46	30				
TTN	7273	broad.mit.edu	37	2	179430729	179430729	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:179430729A>G	ENST00000591111.1	-	276	75431	c.75207T>C	c.(75205-75207)gaT>gaC	p.D25069D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.D24142D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.D17837D|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.D17645D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.D17770D|TTN_ENST00000589042.1_Silent_p.D26710D			Q8WZ42	TITIN_HUMAN	titin	25069	Fibronectin type-III 82. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCCCCTCCATCAATGATGG	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80128-80130)gaT>gaC		titin							161.0	150.0	154.0					2																	179430729		1896	4124	6020	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430729A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75207T>C	2.37:g.179430729A>G						TTN_ENST00000591111.1_Silent_p.D25069D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.D17837D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D24142D|TTN_ENST00000460472.2_Silent_p.D17645D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.D17770D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.D26710D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80354	-			25069					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.80130T>C																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	132	0	0	0	0.740014	0	33	132				
CNTN2	6900	broad.mit.edu	37	1	205038984	205038984	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:205038984C>T	ENST00000331830.4	+	18	2510	c.2226C>T	c.(2224-2226)gaC>gaT	p.D742D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	742	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAACGGAGACGGCTTCGGCT	0.667																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2224-2226)gaC>gaT		contactin 2 (axonal)							140.0	137.0	138.0					1																	205038984		2203	4299	6502	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205038984C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2226C>T	1.37:g.205038984C>T							p.D742D	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2510	+	all_cancers(21;0.144)|Breast(84;0.0437)		742			Fibronectin type-III 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2226C>T	CCDS1449.1																																																																																				0.667	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		85	143	0	0	0	0.870114	0	85	143				
CIT	11113	broad.mit.edu	37	12	120139472	120139472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:120139472C>T	ENST00000261833.7	-	42	5425	c.5373G>A	c.(5371-5373)gtG>gtA	p.V1791V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.V1833V	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1791	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGCGCTGTTCACCTGCACGA	0.562																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5497-5499)gtG>gtA		citron (rho-interacting, serine/threonine kinase 21)							89.0	79.0	83.0					12																	120139472		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120139472C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5373G>A	12.37:g.120139472C>T						CIT_ENST00000261833.7_Silent_p.V1791V|CIT_ENST00000537607.1_5'UTR	p.V1833V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	43	5554	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1791			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.5499G>A	CCDS9192.1																																																																																				0.562	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		7	30	0	0	0	0.278610	0	7	30				
PDE7A	5150	broad.mit.edu	37	8	66691976	66691976	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:66691976T>C	ENST00000401827.3	-	3	705	c.262A>G	c.(262-264)Att>Gtt	p.I88V	PDE7A_ENST00000396642.3_Missense_Mutation_p.I88V|PDE7A_ENST00000379419.4_Missense_Mutation_p.I62V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	88					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CGAAAATCAATATATGGGTGA	0.348																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(262-264)Att>Gtt		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						117.0	123.0	121.0					8																	66691976		2203	4300	6503	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66691976T>C	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.262A>G	8.37:g.66691976T>C	ENSP00000385632:p.Ile88Val					PDE7A_ENST00000396642.3_Missense_Mutation_p.I88V|PDE7A_ENST00000379419.4_Missense_Mutation_p.I62V	p.I88V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		3	705	-			88					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.262A>G	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535064	0.64972	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642;ENST00000523253	T;T;T;T	0.70516	-0.48;-0.49;-0.46;0.49	5.87	5.87	0.94306	.	0.185864	0.40818	N	0.001007	T	0.79009	0.4374	L	0.55481	1.735	0.42787	D	0.993887	P;P;B	0.38922	0.65;0.651;0.013	P;B;B	0.54140	0.743;0.424;0.034	T	0.80158	-0.1499	10	0.62326	D	0.03	.	15.2514	0.73549	0.0:0.0:0.0:1.0	.	88;88;62	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	V	88;62;88;62	ENSP00000385632:I88V;ENSP00000368730:I62V;ENSP00000379881:I88V;ENSP00000430262:I62V	ENSP00000368730:I62V	I	-	1	0	PDE7A	66854530	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.905000	0.63286	2.244000	0.73946	0.533000	0.62120	ATT		0.348	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			20	139	0	0	0	0.592651	0	20	139				
SIGLEC14	100049587	broad.mit.edu	37	19	52148741	52148741	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:52148741C>A	ENST00000360844.6	-	4	784	c.743G>T	c.(742-744)gGc>gTc	p.G248V	SIGLEC5_ENST00000534261.2_5'UTR|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	248	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTGCCTGTGCCATTTCTGAA	0.552																																						ENST00000360844.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(742-744)gGc>gTc		sialic acid binding Ig-like lectin 14							164.0	165.0	164.0					19																	52148741		1846	4064	5910	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52148741C>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.743G>T	19.37:g.52148741C>A	ENSP00000354090:p.Gly248Val					SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'UTR|SIGLEC5_ENST00000429354.3_Intron	p.G248V	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	4	784	-		all_neural(266;0.0299)	248			Ig-like C2-type 2.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.743G>T	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620348	0.28801	.	.	ENSG00000254415	ENST00000360844	T	0.27890	1.64	2.83	-0.546	0.11840	Immunoglobulin-like (1);	9.239730	0.00567	N	0.000293	T	0.11922	0.0290	N	0.02539	-0.55	0.09310	N	1	B	0.28026	0.198	B	0.14578	0.011	T	0.10613	-1.0622	10	0.32370	T	0.25	.	4.1836	0.10387	0.33:0.3292:0.3408:0.0	.	248	Q08ET2	SIG14_HUMAN	V	248	ENSP00000354090:G248V	ENSP00000354090:G248V	G	-	2	0	SIGLEC14	56840553	0.000000	0.05858	0.000000	0.03702	0.621000	0.37620	-4.248000	0.00266	-0.093000	0.12396	0.462000	0.41574	GGC		0.552	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		14	44	1	0	1.5842e-08	0.435327	1.79036e-08	14	44				
XKR5	389610	broad.mit.edu	37	8	6679525	6679525	+	RNA	SNP	C	C	T	rs368056834		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:6679525C>T	ENST00000518724.1	-	0	823							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CTCTGCTGGGCGACAAGCCAG	0.607																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5		C	THR/ALA	0,4192		0,0,2096	29.0	34.0	32.0		673	5.8	0.5	8		32	1,8451		0,1,4225	no	missense	XKR5	NM_207411.4	58	0,1,6321	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	225/687	6679525	1,12643	2096	4226	6322			389610					integral to membrane		g.chr8:6679525C>T	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679525C>T										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	823	-								Q5GH74	RNA	SNP	ENST00000518724.1	37																																																																																						0.607	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		3	9	0	0	0	0.115264	0	3	9				
XXYLT1	152002	broad.mit.edu	37	3	194790786	194790786	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:194790786C>T	ENST00000310380.6	-	4	948	c.840G>A	c.(838-840)ccG>ccA	p.P280P	XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000429994.1_Silent_p.P134P|XXYLT1_ENST00000355729.4_Silent_p.P77P|XXYLT1_ENST00000356740.5_Silent_p.P74P|XXYLT1_ENST00000437101.1_Silent_p.P77P	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	280						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CCTCGGGGGGCGGGCCCCCAA	0.677																																						ENST00000310380.6																			0											c.(838-840)ccG>ccA		xyloside xylosyltransferase 1							22.0	27.0	25.0					3																	194790786		1786	3985	5771	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790786C>T	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.840G>A	3.37:g.194790786C>T						XXYLT1_ENST00000355729.4_Silent_p.P77P|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000429994.1_Silent_p.P134P|XXYLT1_ENST00000437101.1_Silent_p.P77P|XXYLT1_ENST00000356740.5_Silent_p.P74P	p.P280P	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	948	-			280					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.840G>A	CCDS43188.1																																																																																				0.677	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		22	87	0	0	0	0.608945	0	22	87				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	201	0	0	0	0.217242	0	5	201				
PAXIP1	22976	broad.mit.edu	37	7	154767472	154767472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:154767472C>T	ENST00000404141.1	-	6	1162	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	PAXIP1_ENST00000397192.1_Silent_p.R336R|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	336					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCCTCAGTGTCCGTACAGCTG	0.428																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(1006-1008)cgG>cgA		PAX interacting (with transcription-activation domain) protein 1							42.0	42.0	42.0					7																	154767472		1953	4167	6120	SO:0001819	synonymous_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767472C>T	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1008G>A	7.37:g.154767472C>T						PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.R336R	p.R336R			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	1162	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	336					O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	c.1008G>A	CCDS47753.1																																																																																				0.428	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		20	17	0	0	0	0.592651	0	20	17				
HLCS	3141	broad.mit.edu	37	21	38308946	38308946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr21:38308946C>T	ENST00000399120.1	-	5	2029	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HLCS_ENST00000336648.4_Missense_Mutation_p.V267I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	267					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AAGTTCTGGACTGTCTTGTGC	0.572																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(799-801)Gtc>Atc		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						77.0	74.0	75.0					21																	38308946		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38308946C>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.799G>A	21.37:g.38308946C>T	ENSP00000382071:p.Val267Ile					HLCS_ENST00000336648.3_Missense_Mutation_p.V267I	p.V267I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			5	2029	-		Myeloproliferative disorder(46;0.0422)	267					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.799G>A	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	6.807	0.517873	0.13005	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98264	-4.83;-4.83	5.91	4.85	0.62838	.	0.302444	0.35772	N	0.002989	D	0.95567	0.8559	L	0.39566	1.225	0.30853	N	0.73435	B;B	0.28378	0.209;0.108	B;B	0.22152	0.038;0.025	D	0.92441	0.5962	10	0.22109	T	0.4	.	15.6638	0.77209	0.0:0.923:0.0:0.077	.	267;267	B2RAH1;P50747	.;BPL1_HUMAN	I	267	ENSP00000382071:V267I;ENSP00000338387:V267I	ENSP00000338387:V267I	V	-	1	0	HLCS	37230816	0.198000	0.23374	0.336000	0.25522	0.015000	0.08874	0.945000	0.29056	2.793000	0.96121	0.655000	0.94253	GTC		0.572	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			18	44	0	0	0	0.539581	0	18	44				
USP46	64854	broad.mit.edu	37	4	53470719	53470719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:53470719C>T	ENST00000441222.3	-	6	854	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	USP46_ENST00000508499.1_Missense_Mutation_p.E217K|USP46_ENST00000451218.2_Missense_Mutation_p.E197K	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	224	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TATTTTTGTTCACTACACAGT	0.358																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(670-672)Gaa>Aaa		ubiquitin specific peptidase 46							160.0	148.0	152.0					4																	53470719		1856	4096	5952	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53470719C>T	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.670G>A	4.37:g.53470719C>T	ENSP00000407818:p.Glu224Lys					USP46_ENST00000451218.2_Missense_Mutation_p.E197K|USP46_ENST00000508499.1_Missense_Mutation_p.E217K	p.E224K	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		6	854	-			224					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.670G>A	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044950	0.93685	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.06142	3.34;3.34;3.34	5.55	5.55	0.83447	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000014	T	0.26484	0.0647	M	0.78285	2.405	0.80722	D	1	B;P;D;P	0.67145	0.338;0.712;0.996;0.951	B;P;D;P	0.68039	0.177;0.637;0.955;0.823	T	0.00152	-1.1983	10	0.45353	T	0.12	-19.9689	18.8564	0.92254	0.0:1.0:0.0:0.0	.	108;212;224;217	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	K	224;197;217	ENSP00000407818:E224K;ENSP00000390102:E197K;ENSP00000423244:E217K	ENSP00000407818:E224K	E	-	1	0	USP46	53165476	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.711000	0.84669	2.768000	0.95171	0.655000	0.94253	GAA		0.358	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		21	13	0	0	0	0.624587	0	21	13				
FBF1	85302	broad.mit.edu	37	17	73915827	73915827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:73915827G>A	ENST00000586717.1	-	19	2291	c.2018C>T	c.(2017-2019)aCg>aTg	p.T673M	FBF1_ENST00000389570.4_Missense_Mutation_p.T673M|FBF1_ENST00000319129.5_Missense_Mutation_p.T672M			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	673					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GTGCTGGGCCGTAAGCTCAGC	0.667																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(2017-2019)aCg>aTg		Fas (TNFRSF6) binding factor 1							48.0	49.0	49.0					17																	73915827		2021	4187	6208	SO:0001583	missense	85302							g.chr17:73915827G>A	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2018C>T	17.37:g.73915827G>A	ENSP00000465132:p.Thr673Met					FBF1_ENST00000389570.4_Missense_Mutation_p.T673M|FBF1_ENST00000319129.5_Missense_Mutation_p.T672M	p.T673M			A6NLR5	A6NLR5_HUMAN			19	2291	-			672					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.2018C>T		.	.	.	.	.	.	.	.	.	.	G	11.70	1.715481	0.30413	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.18338	2.22;2.22	5.15	0.298	0.15766	.	.	.	.	.	T	0.18964	0.0455	L	0.54323	1.7	0.09310	N	1	D;D;D	0.59357	0.985;0.973;0.985	P;P;P	0.49887	0.522;0.625;0.522	T	0.14144	-1.0483	9	0.46703	T	0.11	-1.6257	3.0105	0.06043	0.4879:0.0:0.3139:0.1982	.	687;673;672	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	M	673;673;672;686	ENSP00000374221:T673M;ENSP00000324292:T672M	ENSP00000324292:T672M	T	-	2	0	FBF1	71427422	0.000000	0.05858	0.153000	0.22517	0.082000	0.17680	-0.067000	0.11579	0.534000	0.28695	0.655000	0.94253	ACG		0.667	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		3	37	0	0	0	0.115264	0	3	37				
ADAR	103	broad.mit.edu	37	1	154562371	154562371	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:154562371T>C	ENST00000368474.4	-	8	2729	c.2530A>G	c.(2530-2532)Ata>Gta	p.I844V	ADAR_ENST00000292205.5_Missense_Mutation_p.I887V|ADAR_ENST00000368471.3_Missense_Mutation_p.I549V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	844					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGCATGGCTATCTGGTCATGG	0.552																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2530-2532)Ata>Gta		adenosine deaminase, RNA-specific							59.0	48.0	52.0					1																	154562371		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154562371T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2530A>G	1.37:g.154562371T>C	ENSP00000357459:p.Ile844Val					ADAR_ENST00000368471.3_Missense_Mutation_p.I549V|ADAR_ENST00000292205.5_Missense_Mutation_p.I887V	p.I844V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	8	2729	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		844					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2530A>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022126	0.54576	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.12879	2.8;2.79;2.64;2.83	5.18	4.04	0.47022	Adenosine deaminase/editase (1);	0.106321	0.64402	D	0.000003	T	0.03608	0.0103	N	0.20986	0.625	0.50313	D	0.999864	B;P;B	0.37525	0.423;0.598;0.236	B;B;B	0.36666	0.138;0.23;0.069	T	0.41822	-0.9487	10	0.27785	T	0.31	-20.6209	8.3578	0.32340	0.0:0.0794:0.1359:0.7848	.	799;818;844	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	V	887;844;549;813	ENSP00000292205:I887V;ENSP00000357459:I844V;ENSP00000357456:I549V;ENSP00000431794:I813V	ENSP00000292205:I887V	I	-	1	0	ADAR	152828995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.873000	0.39558	2.189000	0.69895	0.460000	0.39030	ATA		0.552	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		22	16	0	0	0	0.667858	0	22	16				
MICAL2	9645	broad.mit.edu	37	11	12241956	12241956	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:12241956G>T	ENST00000256194.4	+	9	1445	c.1157G>T	c.(1156-1158)cGg>cTg	p.R386L	MICAL2_ENST00000379612.3_Missense_Mutation_p.R386L|MICAL2_ENST00000527546.1_Missense_Mutation_p.R386L|MICAL2_ENST00000342902.5_Missense_Mutation_p.R386L|MICAL2_ENST00000537344.1_Missense_Mutation_p.R386L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	386	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTGCGGGAGCGGCAGGCGCAC	0.592																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1156-1158)cGg>cTg		microtubule associated monooxygenase, calponin and LIM domain containing 2							71.0	66.0	68.0					11																	12241956		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12241956G>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1157G>T	11.37:g.12241956G>T	ENSP00000256194:p.Arg386Leu					MICAL2_ENST00000342902.5_Missense_Mutation_p.R386L|MICAL2_ENST00000527546.1_Missense_Mutation_p.R386L|MICAL2_ENST00000379612.3_Missense_Mutation_p.R386L|MICAL2_ENST00000537344.1_Missense_Mutation_p.R386L	p.R386L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	9	1445	+			386					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1157G>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033784	0.93575	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.38	5.38	0.77491	Calponin homology domain (1);	0.054364	0.64402	D	0.000001	T	0.36908	0.0984	M	0.80183	2.485	0.58432	D	0.99999	D;D;P;D;P	0.69078	0.997;0.989;0.916;0.989;0.913	D;P;P;P;P	0.69479	0.964;0.821;0.643;0.821;0.688	T	0.10590	-1.0623	10	0.72032	D	0.01	.	18.926	0.92544	0.0:0.0:1.0:0.0	.	386;386;386;386;386	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	L	386	ENSP00000441689:R386L;ENSP00000256194:R386L;ENSP00000433965:R386L;ENSP00000344894:R386L;ENSP00000368932:R386L	ENSP00000256194:R386L	R	+	2	0	MICAL2	12198532	1.000000	0.71417	0.965000	0.40720	0.999000	0.98932	6.566000	0.73978	2.793000	0.96121	0.655000	0.94253	CGG		0.592	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		3	64	1	0	0.115264	0.115264	0.116678	3	64				
MED13	9969	broad.mit.edu	37	17	60087936	60087936	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:60087936G>T	ENST00000397786.2	-	9	2018	c.1942C>A	c.(1942-1944)Cag>Aag	p.Q648K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	648					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACACTTTCCTGTCCAAAAGGT	0.348																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1942-1944)Cag>Aag		mediator complex subunit 13							68.0	61.0	63.0					17																	60087936		1841	4084	5925	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60087936G>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1942C>A	17.37:g.60087936G>T	ENSP00000380888:p.Gln648Lys						p.Q648K	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			9	2018	-			648					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.1942C>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	9.170	1.020866	0.19433	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73258	-0.73	5.62	5.62	0.85841	.	0.208515	0.43579	D	0.000541	T	0.54791	0.1880	L	0.40543	1.245	0.31614	N	0.651117	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.51092	-0.8749	10	0.05959	T	0.93	-19.9459	8.8895	0.35425	0.0746:0.0:0.776:0.1494	.	161;648	Q9P0Q5;Q9UHV7	.;MED13_HUMAN	K	648;647	ENSP00000380888:Q648K	ENSP00000262436:Q647K	Q	-	1	0	MED13	57442718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.869000	0.48444	2.638000	0.89438	0.585000	0.79938	CAG		0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		8	38	1	0	1.12685e-05	0.307466	1.23133e-05	8	38				
ORC2	4999	broad.mit.edu	37	2	201798644	201798644	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:201798644G>C	ENST00000234296.2	-	10	1011	c.762C>G	c.(760-762)acC>acG	p.T254T		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	254					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TTCTATCAGAGGTTAAAACTT	0.343																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(760-762)acC>acG		origin recognition complex, subunit 2							103.0	105.0	104.0					2																	201798644		2203	4298	6501	SO:0001819	synonymous_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201798644G>C		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.762C>G	2.37:g.201798644G>C							p.T254T	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			10	1011	-			254					Q13204|Q53TX5	Silent	SNP	ENST00000234296.2	37	c.762C>G	CCDS2334.1																																																																																				0.343	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		8	84	0	0	0	0.278610	0	8	84				
NBPF1	55672	broad.mit.edu	37	1	16902841	16902841	+	Missense_Mutation	SNP	C	C	A	rs549809172		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:16902841C>A	ENST00000430580.2	-	19	2927	c.2040G>T	c.(2038-2040)aaG>aaT	p.K680N	NBPF1_ENST00000287968.8_Missense_Mutation_p.K45N|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000432949.1_Missense_Mutation_p.K138N	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	680						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCCCCTGGGACTTGTCTGGCT	0.582													.|||	1	0.000199681	0.0	0.0	5008	,	,		49488	0.0		0.0	False		,,,				2504	0.001					ENST00000430580.2																			0											c.(2038-2040)aaG>aaT		neuroblastoma breakpoint family, member 1							369.0	402.0	390.0					1																	16902841		1511	2708	4219	SO:0001583	missense	55672					cytoplasm		g.chr1:16902841C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2040G>T	1.37:g.16902841C>A	ENSP00000474456:p.Lys680Asn					NBPF1_ENST00000432949.1_Missense_Mutation_p.K138N|NBPF1_ENST00000287968.8_Missense_Mutation_p.K45N	p.K680N	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2927	-			680					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2040G>T																																																																																					0.582	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		18	653	1	0	3.01185e-09	0.667858	3.45108e-09	18	653				
UGT2A3	79799	broad.mit.edu	37	4	69796456	69796456	+	Missense_Mutation	SNP	G	G	C	rs558964926		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:69796456G>C	ENST00000251566.4	-	5	1142	c.1112C>G	c.(1111-1113)aCt>aGt	p.T371S	UGT2A3_ENST00000420231.2_Missense_Mutation_p.T82S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	371					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCACCATGAGTGATAAAAGC	0.358																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1111-1113)aCt>aGt		UDP glucuronosyltransferase 2 family, polypeptide A3							42.0	43.0	43.0					4																	69796456		2203	4298	6501	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796456G>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1112C>G	4.37:g.69796456G>C	ENSP00000251566:p.Thr371Ser					UGT2A3_ENST00000420231.2_Missense_Mutation_p.T82S	p.T371S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			5	1142	-			371					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1112C>G	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406075	0.25378	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.69040	-0.37;2.78	1.99	1.99	0.26369	.	0.125650	0.53938	D	0.000059	T	0.78616	0.4311	M	0.78049	2.395	0.28939	N	0.891092	D	0.89917	1.0	D	0.91635	0.999	T	0.71580	-0.4550	10	0.87932	D	0	.	9.5666	0.39402	0.0:0.0:1.0:0.0	.	371	Q6UWM9	UD2A3_HUMAN	S	371;82	ENSP00000251566:T371S;ENSP00000440115:T82S	ENSP00000251566:T371S	T	-	2	0	UGT2A3	69831045	1.000000	0.71417	0.342000	0.25602	0.077000	0.17291	4.117000	0.57877	1.094000	0.41399	0.491000	0.48974	ACT		0.358	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		11	5	0	0	0	0.411799	0	11	5				
DNAH9	1770	broad.mit.edu	37	17	11660996	11660996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:11660996A>G	ENST00000262442.4	+	35	7050	c.6982A>G	c.(6982-6984)Aca>Gca	p.T2328A	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2328A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2328	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCTAGACACACTCAGAAC	0.468																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6982-6984)Aca>Gca		dynein, axonemal, heavy chain 9							93.0	80.0	84.0					17																	11660996		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11660996A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6982A>G	17.37:g.11660996A>G	ENSP00000262442:p.Thr2328Ala					DNAH9_ENST00000454412.2_Missense_Mutation_p.T2328A	p.T2328A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	35	7050	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2328			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6982A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	2.902	-0.227331	0.06022	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.24908	1.83;1.83	5.11	0.366	0.16136	.	0.602435	0.16875	N	0.195952	T	0.11495	0.0280	N	0.11284	0.12	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20306	-1.0279	10	0.15952	T	0.53	.	9.7615	0.40534	0.7278:0.0:0.2722:0.0	.	2328	Q9NYC9	DYH9_HUMAN	A	2328;2328;910	ENSP00000262442:T2328A;ENSP00000414874:T2328A	ENSP00000262442:T2328A	T	+	1	0	DNAH9	11601721	0.028000	0.19301	0.890000	0.34922	0.389000	0.30415	2.579000	0.46059	0.055000	0.16094	0.460000	0.39030	ACA		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		20	15	0	0	0	0.608945	0	20	15				
TXK	7294	broad.mit.edu	37	4	48096215	48096215	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:48096215C>A	ENST00000264316.4	-	8	673	c.588G>T	c.(586-588)acG>acT	p.T196T	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGGCAGCCTCCGTACTTCTAC	0.373																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(586-588)acG>acT		TXK tyrosine kinase							101.0	93.0	96.0					4																	48096215		2203	4300	6503	SO:0001819	synonymous_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48096215C>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.588G>T	4.37:g.48096215C>A						TXK_ENST00000510457.1_5'UTR	p.T196T	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			8	673	-			196			SH2.		Q14220	Silent	SNP	ENST00000264316.4	37	c.588G>T	CCDS3480.1																																																																																				0.373	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		4	30	1	0	0.00909568	0.150653	0.00937992	4	30				
ZBTB18	10472	broad.mit.edu	37	1	244217113	244217113	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:244217113C>G	ENST00000358704.4	+	2	186	c.37C>G	c.(37-39)Cca>Gca	p.P13A		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	4					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TATGGAGTTTCCAGACCATAG	0.473																																						ENST00000358704.4																			0											c.(37-39)Cca>Gca		zinc finger and BTB domain containing 18							71.0	67.0	68.0					1																	244217113		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244217113C>G	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.37C>G	1.37:g.244217113C>G	ENSP00000351539:p.Pro13Ala						p.P13A	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	186	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.37C>G	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003599	0.74932	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.71579	-0.58	5.22	5.22	0.72569	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	N	0.21142	0.635	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.986;0.986;0.999	T	0.77109	-0.2709	10	0.42905	T	0.14	.	18.7662	0.91874	0.0:1.0:0.0:0.0	.	13;4;13	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	A	13	ENSP00000351539:P13A	ENSP00000351539:P13A	P	+	1	0	ZNF238	242283736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.432000	0.82394	0.655000	0.94253	CCA		0.473	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		3	44	0	0	0	0.150653	0	3	44				
GIGYF2	26058	broad.mit.edu	37	2	233660784	233660784	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:233660784A>G	ENST00000409547.1	+	16	1803	c.1492A>G	c.(1492-1494)Atg>Gtg	p.M498V	GIGYF2_ENST00000409451.3_Missense_Mutation_p.M519V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M492V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M520V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.M498V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.M520V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M329V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	498					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCTGAGAAAATGGTGGCTTA	0.383																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1558-1560)Atg>Gtg		GRB10 interacting GYF protein 2							149.0	135.0	139.0					2																	233660784		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233660784A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1492A>G	2.37:g.233660784A>G	ENSP00000386537:p.Met498Val					GIGYF2_ENST00000409480.1_Missense_Mutation_p.M520V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.M498V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M519V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M492V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.M498V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M329V	p.M520V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	15	1755	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	498					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1558A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064065	0.76187	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.75704	-0.82;-0.81;-0.82;-0.81;-0.96;-0.81;-0.82;-0.94;-0.71	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.71581	2.175	0.53688	D	0.999974	P;D;B;P	0.57571	0.934;0.98;0.325;0.551	D;D;B;P	0.68483	0.943;0.958;0.06;0.448	T	0.82139	-0.0605	10	0.32370	T	0.25	-17.2702	12.3984	0.55399	0.8599:0.1401:0.0:0.0	.	329;519;498;492	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	520;441;498;520;498;498;441;492;519;492;329	ENSP00000362667:M520V;ENSP00000362664:M498V;ENSP00000386765:M520V;ENSP00000386537:M498V;ENSP00000404195:M441V;ENSP00000387070:M492V;ENSP00000387170:M519V;ENSP00000410297:M492V;ENSP00000411505:M329V	ENSP00000362664:M498V	M	+	1	0	GIGYF2	233369028	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	ATG		0.383	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		14	64	0	0	0	0.479597	0	14	64				
GAREM	64762	broad.mit.edu	37	18	29848299	29848299	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr18:29848299G>A	ENST00000269209.6	-	6	2169	c.2166C>T	c.(2164-2166)tgC>tgT	p.C722C	GAREM_ENST00000399218.4_Silent_p.C721C			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	722					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GTAAGGCAGGGCATGACGTAC	0.532																																						ENST00000399218.4																			0											c.(2161-2163)tgC>tgT		GRB2 associated, regulator of MAPK1							105.0	103.0	103.0					18																	29848299		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29848299G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2166C>T	18.37:g.29848299G>A						GAREM_ENST00000269209.6_Silent_p.C722C	p.C721C	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	2218	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.2163C>T	CCDS56057.1																																																																																				0.532	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		13	72	0	0	0	0.457914	0	13	72				
RP11-478B9.1	0	broad.mit.edu	37	12	45458369	45458369	+	RNA	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:45458369C>A	ENST00000548424.1	+	0	448																											GGTGGGGTCACTGTTCCAAGG	0.532																																						ENST00000548424.1																			0																																																			0							g.chr12:45458369C>A																													12.37:g.45458369C>A														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.532	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			10	6	1	0	9.70103e-10	0.361761	1.15156e-09	10	6				
THBS1	7057	broad.mit.edu	37	15	39884807	39884807	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:39884807C>G	ENST00000260356.5	+	17	2736	c.2571C>G	c.(2569-2571)gaC>gaG	p.D857E	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	857					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATACCTGTGACAACAATCAGG	0.443																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2569-2571)gaC>gaG		thrombospondin 1	Becaplermin(DB00102)						70.0	57.0	62.0					15																	39884807		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884807C>G		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2571C>G	15.37:g.39884807C>G	ENSP00000260356:p.Asp857Glu						p.D857E	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2736	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	857					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2571C>G	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931467	0.73442	.	.	ENSG00000137801	ENST00000260356	D	0.97731	-4.51	5.0	5.0	0.66597	.	0.000000	0.38217	N	0.001775	D	0.98557	0.9518	M	0.85710	2.77	0.45150	D	0.998162	D;D	0.69078	0.997;0.993	D;D	0.75484	0.953;0.986	D	0.98939	1.0790	10	0.72032	D	0.01	-31.2462	11.8097	0.52175	0.0:0.8708:0.0:0.1292	.	772;857	B4E3J7;P07996	.;TSP1_HUMAN	E	857	ENSP00000260356:D857E	ENSP00000260356:D857E	D	+	3	2	THBS1	37672099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.316000	0.51960	2.474000	0.83562	0.655000	0.94253	GAC		0.443	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		4	5	0	0	0	0.184627	0	4	5				
RPS6KC1	26750	broad.mit.edu	37	1	213414710	213414710	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:213414710C>G	ENST00000366960.3	+	11	2041	c.1891C>G	c.(1891-1893)Cca>Gca	p.P631A	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P619A|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P334A|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P419A|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	631					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACCTTTGAAACCATTCTTTAC	0.403																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1891-1893)Cca>Gca		ribosomal protein S6 kinase, 52kDa, polypeptide 1							55.0	59.0	58.0					1																	213414710		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414710C>G	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1891C>G	1.37:g.213414710C>G	ENSP00000355927:p.Pro631Ala					RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P619A|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P334A|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P419A|RPS6KC1_ENST00000490299.1_3'UTR	p.P631A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2041	+			631					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1891C>G	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	6.715	0.500578	0.12822	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.40756	1.42;1.47;1.48;1.02	5.19	3.28	0.37604	.	0.116819	0.64402	N	0.000013	T	0.28333	0.0700	N	0.21583	0.68	0.31220	N	0.697593	B;B;B	0.20671	0.047;0.003;0.007	B;B;B	0.24541	0.054;0.006;0.006	T	0.20042	-1.0287	10	0.33940	T	0.23	-38.3436	10.4692	0.44626	0.0:0.7875:0.1387:0.0738	.	419;631;619	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	A	419;631;619;334	ENSP00000442306:P419A;ENSP00000355927:P631A;ENSP00000355926:P619A;ENSP00000439282:P334A	ENSP00000355926:P619A	P	+	1	0	RPS6KC1	211481333	1.000000	0.71417	0.693000	0.30195	0.958000	0.62258	2.739000	0.47409	0.551000	0.29008	0.557000	0.71058	CCA		0.403	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		25	43	0	0	0	0.654019	0	25	43				
SAMD9L	219285	broad.mit.edu	37	7	92762231	92762231	+	Missense_Mutation	SNP	C	C	A	rs376356072		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:92762231C>A	ENST00000318238.4	-	5	4270	c.3054G>T	c.(3052-3054)gaG>gaT	p.E1018D	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1018D|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1018D	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1018					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATAAATTCTCTTCTAATA	0.363																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3052-3054)gaG>gaT		sterile alpha motif domain containing 9-like							50.0	54.0	53.0					7																	92762231		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92762231C>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3054G>T	7.37:g.92762231C>A	ENSP00000326247:p.Glu1018Asp					SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1018D|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1018D	p.E1018D	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4270	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1018					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3054G>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682325	0.29872	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25250	1.81;1.81;1.81	5.11	-1.01	0.10169	.	0.231409	0.29932	N	0.010836	T	0.33206	0.0855	M	0.61703	1.905	0.09310	N	1	D	0.59767	0.986	P	0.56398	0.797	T	0.13737	-1.0498	10	0.62326	D	0.03	-14.8516	6.3673	0.21461	0.0:0.455:0.1182:0.4267	.	1018	Q8IVG5	SAM9L_HUMAN	D	1018	ENSP00000326247:E1018D;ENSP00000405760:E1018D;ENSP00000408796:E1018D	ENSP00000326247:E1018D	E	-	3	2	SAMD9L	92600167	0.000000	0.05858	0.020000	0.16555	0.525000	0.34531	-0.219000	0.09228	-0.127000	0.11661	0.467000	0.42956	GAG		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		22	55	1	0	5.35356e-11	0.639603	6.44772e-11	22	55				
ZNF534	147658	broad.mit.edu	37	19	52941671	52941671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:52941671C>A	ENST00000332323.6	+	4	1058	c.997C>A	c.(997-999)Cat>Aat	p.H333N	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H320N	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTGTAATCCATACTGGAGA	0.418																																						ENST00000332323.6																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(997-999)Cat>Aat		zinc finger protein 534							62.0	55.0	57.0					19																	52941671		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941671C>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.997C>A	19.37:g.52941671C>A	ENSP00000327538:p.His333Asn					ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H320N|ZNF534_ENST00000301085.4_Intron	p.H333N	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	1058	+			333					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.997C>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305447	0.23736	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.67345	-0.26;-0.26	1.82	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80732	0.4679	M	0.91768	3.24	0.53688	D	0.99997	P;D	0.67145	0.668;0.996	B;D	0.63957	0.253;0.92	T	0.81169	-0.1055	9	0.87932	D	0	.	7.2861	0.26340	0.2623:0.7377:0.0:0.0	.	320;333	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	N	333;320;332	ENSP00000327538:H333N;ENSP00000391358:H320N	ENSP00000327538:H333N	H	+	1	0	ZNF534	57633483	0.993000	0.37304	0.025000	0.17156	0.014000	0.08584	4.509000	0.60448	0.983000	0.38602	0.467000	0.42956	CAT		0.418	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		11	10	1	0	0.000978159	0.387290	0.00104803	11	10				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																197331							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	32	0	0	0	0.115264	0	3	32				
SPDYE3	441272	broad.mit.edu	37	7	99917380	99917380	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:99917380C>A	ENST00000332397.6	+	9	1723	c.1539C>A	c.(1537-1539)ttC>ttA	p.F513L	SPDYE3_ENST00000437326.2_Missense_Mutation_p.F136L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	513										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGTTCCAGTTCTTCTGTTCCA	0.607																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1537-1539)ttC>ttA		speedy/RINGO cell cycle regulator family member E3							85.0	93.0	91.0					7																	99917380		2203	4300	6503	SO:0001583	missense	441272							g.chr7:99917380C>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1539C>A	7.37:g.99917380C>A	ENSP00000329565:p.Phe513Leu					SPDYE3_ENST00000437326.2_Missense_Mutation_p.F136L	p.F513L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			9	1723	+			513					Q495Y9|Q6PHC4	Missense_Mutation	SNP	ENST00000332397.6	37	c.1539C>A	CCDS47658.2	.	.	.	.	.	.	.	.	.	.	C	6.503	0.461093	0.12342	.	.	ENSG00000214300	ENST00000332397;ENST00000437326	.	.	.	0.185	0.185	0.15096	.	0.102100	0.41294	N	0.000903	T	0.19967	0.0480	N	0.25245	0.725	0.09310	N	1	.	.	.	.	.	.	T	0.23691	-1.0181	6	0.14656	T	0.56	.	.	.	.	.	.	.	.	L	513;136	.	ENSP00000329565:F513L	F	+	3	2	SPDYE3	99755316	0.854000	0.29725	0.004000	0.12327	0.004000	0.04260	0.895000	0.28363	0.293000	0.22520	0.298000	0.19748	TTC		0.607	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		32	66	1	0	4.74835e-14	0.750413	5.89082e-14	32	66				
ESX1	80712	broad.mit.edu	37	X	103495254	103495254	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chrX:103495254C>T	ENST00000372588.4	-	4	959	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	292	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GTGGCACAGGCGCCATGCGTG	0.746																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(874-876)gcG>gcA		ESX homeobox 1							16.0	19.0	18.0					X																	103495254		2171	4231	6402	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495254C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.876G>A	X.37:g.103495254C>T							p.A292A	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	959	-			292			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.876G>A	CCDS14516.1																																																																																				0.746	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		12	15	0	0	0	0.387290	0	12	15				
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:7579415C>T	ENST00000269305.4	-	4	461	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*	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	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)	TGACAGGGGCCAGGAGGGGGC	0.632		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"""		25	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Nonsense(7)	p.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)	lung(7)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|prostate(1)|liver(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.(271-273)tGg>tAg	Other conserved DNA damage response genes	tumor protein p53							44.0	50.0	48.0					17																	7579415		2202	4299	6501	SO:0001587	stop_gained	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.chr17:7579415C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.272G>A	17.37:g.7579415C>T	ENSP00000269305:p.Trp91*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*	p.W91*	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)	4	404	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	91		W -> C (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.272G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911071	0.72983	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.08	4.08	0.47627	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	14.5887	0.68347	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	2	0	TP53	7520140	0.997000	0.39634	0.998000	0.56505	0.633000	0.38033	-0.143000	0.10296	2.561000	0.86390	0.561000	0.74099	TGG		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		81	17	0	0	0	0.870114	0	81	17				
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																						ENST00000359062.3																			1	Substitution - coding silent(1)	p.L275L(1)	urinary_tract(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(823-825)ctG>ctA		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						26.0	32.0	30.0					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20523043G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A						RP11-284H19.1_ENST00000535755.1_RNA	p.L275L	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			1	865	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	275					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.825G>A	CCDS31754.1																																																																																				0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			16	60	0	0	0	0.575678	0	16	60				
PCDH10	57575	broad.mit.edu	37	4	134072873	134072873	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:134072873C>T	ENST00000264360.5	+	1	2404	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTACTTGTACGCCCTGCGCT	0.592																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1576-1578)taC>taT		protocadherin 10							64.0	68.0	67.0					4																	134072873		2198	4292	6490	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072873C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1578C>T	4.37:g.134072873C>T							p.Y526Y	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2404	+			526			Cadherin 5.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1578C>T	CCDS34063.1																																																																																				0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		18	52	0	0	0	0.557998	0	18	52				
OR2T33	391195	broad.mit.edu	37	1	248436609	248436609	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:248436609G>T	ENST00000318021.2	-	1	529	c.508C>A	c.(508-510)Cac>Aac	p.H170N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCGATCTCGTGTGCACCACAA	0.557																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(508-510)Cac>Aac		olfactory receptor, family 2, subfamily T, member 33							49.0	52.0	51.0					1																	248436609		2201	4289	6490	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436609G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.508C>A	1.37:g.248436609G>T	ENSP00000324687:p.His170Asn						p.H170N	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	529	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		170					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.508C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	1.916	-0.449519	0.04572	.	.	ENSG00000177212	ENST00000318021	T	0.00018	9.07	2.7	0.173	0.15036	GPCR, rhodopsin-like superfamily (1);	1.425500	0.05080	N	0.483217	T	0.00073	0.0002	N	0.02103	-0.685	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.10177	-1.0641	10	0.62326	D	0.03	.	4.3994	0.11379	0.1347:0.0:0.3015:0.5638	.	170	Q8NG76	O2T33_HUMAN	N	170	ENSP00000324687:H170N	ENSP00000324687:H170N	H	-	1	0	OR2T33	246503232	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.221000	0.17680	0.357000	0.24183	0.494000	0.49563	CAC		0.557	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		4	44	1	0	4.68919e-08	0.361761	5.26338e-08	4	44				
ENTPD5	957	broad.mit.edu	37	14	74440651	74440651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:74440651C>T	ENST00000334696.6	-	12	1134	c.815G>A	c.(814-816)tGt>tAt	p.C272Y	ENTPD5_ENST00000557325.1_Missense_Mutation_p.C272Y	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	272					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCTCGGTAAACAGGCACTCCG	0.488																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(814-816)tGt>tAt		ectonucleoside triphosphate diphosphohydrolase 5							121.0	104.0	109.0					14																	74440651		2203	4300	6503	SO:0001583	missense	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74440651C>T	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.815G>A	14.37:g.74440651C>T	ENSP00000335246:p.Cys272Tyr					ENTPD5_ENST00000557325.1_Missense_Mutation_p.C272Y	p.C272Y	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	12	1134	-			272					A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	c.815G>A	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536062	0.85812	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.54279	0.58;0.58	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88443	0.3043	10	0.87932	D	0	-16.497	17.5631	0.87912	0.0:1.0:0.0:0.0	.	272;272	O75356;G3V4I0	ENTP5_HUMAN;.	Y	272	ENSP00000451810:C272Y;ENSP00000335246:C272Y	ENSP00000335246:C272Y	C	-	2	0	ENTPD5	73510404	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.616000	0.67709	2.822000	0.97130	0.557000	0.71058	TGT		0.488	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		15	52	0	0	0	0.479597	0	15	52				
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711																																						ENST00000300131.3																			3	Substitution - coding silent(3)	p.P211P(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(631-633)ccT>ccC		NGFI-A binding protein 2 (EGR1 binding protein 2)																																				SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485457T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.633T>C	12.37:g.57485457T>C						NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR	p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1011	+			211					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.633T>C	CCDS8930.1																																																																																				0.711	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		6	25	0	0	0	0.411799	0	6	25				
SRPK2	6733	broad.mit.edu	37	7	104808499	104808499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:104808499G>A	ENST00000393651.3	-	5	469	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	SRPK2_ENST00000489828.1_Missense_Mutation_p.H117Y|SRPK2_ENST00000357311.3_Missense_Mutation_p.H117Y	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCCGTATAATGCTGGGCACTT	0.279																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(349-351)Cat>Tat		SRSF protein kinase 2							40.0	40.0	40.0					7																	104808499		2202	4298	6500	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104808499G>A	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.382C>T	7.37:g.104808499G>A	ENSP00000377262:p.His128Tyr					SRPK2_ENST00000489828.1_Missense_Mutation_p.H117Y|SRPK2_ENST00000393651.3_Missense_Mutation_p.H128Y	p.H117Y	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			4	520	-			117			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.349C>T	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989933	0.93106	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	T;T;T;T;T	0.26518	2.0;2.0;2.0;2.0;1.73	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	N	0.17278	0.47	0.80722	D	1	D;D	0.59357	0.985;0.97	D;D	0.70716	0.965;0.97	T	0.36359	-0.9751	10	0.87932	D	0	-19.044	19.6676	0.95898	0.0:0.0:1.0:0.0	.	128;117	P78362-2;P78362	.;SRPK2_HUMAN	Y	128;117;117;165;117	ENSP00000377262:H128Y;ENSP00000349863:H117Y;ENSP00000419791:H117Y;ENSP00000419240:H165Y;ENSP00000417357:H117Y	ENSP00000349863:H117Y	H	-	1	0	SRPK2	104595735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.743000	0.98849	2.656000	0.90262	0.563000	0.77884	CAT		0.279	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		14	27	0	0	0	0.500413	0	14	27				
VPS35	55737	broad.mit.edu	37	16	46716023	46716023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:46716023G>A	ENST00000299138.7	-	3	225	c.167C>T	c.(166-168)tCt>tTt	p.S56F		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	56					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGATAACATAGAAGTCCGGAG	0.338																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(166-168)tCt>tTt		vacuolar protein sorting 35 homolog (S. cerevisiae)							99.0	93.0	95.0					16																	46716023		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46716023G>A	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.167C>T	16.37:g.46716023G>A	ENSP00000299138:p.Ser56Phe						p.S56F	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			3	225	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	56					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.167C>T	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	29.0	4.968157	0.92855	.	.	ENSG00000069329	ENST00000299138	T	0.51071	0.72	4.88	4.88	0.63580	.	0.057034	0.64402	D	0.000001	T	0.71533	0.3351	M	0.92219	3.285	0.80722	D	1	P	0.48350	0.909	P	0.53593	0.73	T	0.80618	-0.1302	10	0.87932	D	0	-11.7599	18.4459	0.90683	0.0:0.0:1.0:0.0	.	56	Q96QK1	VPS35_HUMAN	F	56	ENSP00000299138:S56F	ENSP00000299138:S56F	S	-	2	0	VPS35	45273524	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.405000	0.81733	0.551000	0.68910	TCT		0.338	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			18	35	0	0	0	0.575678	0	18	35				
PRKRA	8575	broad.mit.edu	37	2	179309173	179309173	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:179309173C>T	ENST00000325748.4	-	4	572	c.372G>A	c.(370-372)caG>caA	p.Q124Q	PRKRA_ENST00000432031.2_Silent_p.Q113Q|PRKRA_ENST00000438687.3_Silent_p.Q11Q|PRKRA_ENST00000487082.1_Silent_p.Q99Q|PRKRA_ENST00000470200.1_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	124	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TAGGATTAAGCTGGTTCTTTG	0.358																																					Melanoma(200;68 3001 23825 48764)	ENST00000325748.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(370-372)caG>caA		protein kinase, interferon-inducible double stranded RNA dependent activator							98.0	101.0	100.0					2																	179309173		2203	4300	6503	SO:0001819	synonymous_variant	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179309173C>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.372G>A	2.37:g.179309173C>T						PRKRA_ENST00000487082.1_Silent_p.Q99Q|PRKRA_ENST00000438687.3_Silent_p.Q11Q|PRKRA_ENST00000432031.2_Silent_p.Q113Q	p.Q124Q	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		4	572	-			124			Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Silent	SNP	ENST00000325748.4	37	c.372G>A	CCDS2279.1																																																																																				0.358	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		24	31	0	0	0	0.740014	0	24	31				
OPLAH	26873	broad.mit.edu	37	8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T	rs186909122		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCGCAGGGCCTCCGTCAC	0.647																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2698-2700)gCc>gAc		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						44.0	52.0	50.0					8																	145108284		2081	4210	6291	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145108284G>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2699C>A	8.37:g.145108284G>T	ENSP00000475943:p.Ala900Asp					OPLAH_ENST00000534424.1_5'UTR	p.A900D	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		20	2780	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		900					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2699C>A		.	.	.	.	.	.	.	.	.	.	G	14.54	2.564475	0.45694	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	3.44	0.39384	.	0.106428	0.64402	D	0.000007	T	0.48132	0.1483	.	.	.	0.52099	D	0.999941	B	0.18863	0.031	B	0.25405	0.06	T	0.61317	-0.7087	7	0.62326	D	0.03	.	10.7882	0.46417	0.1156:0.0:0.8844:0.0	.	900	O14841	OPLA_HUMAN	D	900	.	ENSP00000412071:A900D	A	-	2	0	OPLAH	145180272	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.294000	0.51787	2.069000	0.61940	0.448000	0.29417	GCC		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		8	93	1	0	0.00621372	0.335167	0.00648901	8	93				
MPDZ	8777	broad.mit.edu	37	9	13147652	13147652	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:13147652A>T	ENST00000319217.7	-	26	3883	c.3636T>A	c.(3634-3636)gaT>gaA	p.D1212E	MPDZ_ENST00000538841.1_Missense_Mutation_p.D104E|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1226E|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1212E|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1212E|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1212E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1212	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGTCCATTCCATCCACCTGCA	0.428																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3634-3636)gaT>gaA		multiple PDZ domain protein							124.0	116.0	118.0					9																	13147652		1906	4118	6024	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13147652A>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3636T>A	9.37:g.13147652A>T	ENSP00000320006:p.Asp1212Glu					MPDZ_ENST00000541718.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1212E|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1212E|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1226E|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000538841.1_Missense_Mutation_p.D104E	p.D1212E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	26	3883	-			1212			PDZ 7.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3636T>A		.	.	.	.	.	.	.	.	.	.	A	19.30	3.801895	0.70682	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000546205	T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.83	5.83	0.93111	.	0.000000	0.46145	D	0.000307	T	0.46698	0.1406	L	0.46157	1.445	0.80722	D	1	D;P;D;D	0.89917	1.0;0.949;1.0;1.0	D;P;D;D	0.73708	0.979;0.626;0.981;0.981	T	0.43572	-0.9383	10	0.62326	D	0.03	.	11.2739	0.49155	0.9293:0.0:0.0707:0.0	.	1212;104;1212;1212	B7ZMI4;B7ZB24;O75970-3;O75970-2	.;.;.;.	E	1212;1212;1212;104;1212;1212;1212;1226	ENSP00000320006:D1212E;ENSP00000439807:D1212E;ENSP00000370410:D1212E;ENSP00000444717:D104E;ENSP00000444151:D1212E;ENSP00000415208:D1212E;ENSP00000370403:D1212E;ENSP00000446358:D1226E	ENSP00000320006:D1212E	D	-	3	2	MPDZ	13137652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.554000	0.45845	2.226000	0.72624	0.460000	0.39030	GAT		0.428	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		24	19	0	0	0	0.624587	0	24	19				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		14	10	0	0	0	0.500413	0	14	10				
GPRC5B	51704	broad.mit.edu	37	16	19871833	19871833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:19871833G>A	ENST00000300571.2	-	4	1392	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	GPRC5B_ENST00000569102.1_5'Flank|GPRC5B_ENST00000535671.1_Intron|GPRC5B_ENST00000537135.1_Missense_Mutation_p.H427Y|GPRC5B_ENST00000569479.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000569847.1_Missense_Mutation_p.H401Y	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	401					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACCAAAGGTGTCTTCCTGTG	0.443																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1201-1203)Cac>Tac		G protein-coupled receptor, family C, group 5, member B							114.0	102.0	106.0					16																	19871833		2197	4300	6497	SO:0001583	missense	51704							g.chr16:19871833G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1201C>T	16.37:g.19871833G>A	ENSP00000300571:p.His401Tyr					GPRC5B_ENST00000569847.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000569479.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000537135.1_Missense_Mutation_p.H427Y|GPRC5B_ENST00000535671.1_Intron	p.H401Y	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			4	1392	-			401					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1201C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.304978	0.81247	.	.	ENSG00000167191	ENST00000300571;ENST00000538074;ENST00000537135	T;T	0.27256	1.71;1.68	5.34	5.34	0.76211	.	0.140306	0.48767	D	0.000163	T	0.42854	0.1221	L	0.40543	1.245	0.47476	D	0.999433	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.06679	-1.0813	9	.	.	.	.	18.3923	0.90487	0.0:0.0:1.0:0.0	.	427;401	B7Z831;Q9NZH0	.;GPC5B_HUMAN	Y	401;250;427	ENSP00000300571:H401Y;ENSP00000441775:H427Y	.	H	-	1	0	GPRC5B	19779334	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.094000	0.76944	2.637000	0.89404	0.563000	0.77884	CAC		0.443	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			15	33	0	0	0	0.557998	0	15	33				
CILP2	148113	broad.mit.edu	37	19	19655287	19655287	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:19655287G>A	ENST00000291495.5	+	8	2018	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	CILP2_ENST00000586018.1_Missense_Mutation_p.V651M	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	645						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CATGTTCTCCGTGGACCTCCG	0.731																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1951-1953)Gtg>Atg		cartilage intermediate layer protein 2							28.0	33.0	31.0					19																	19655287		2195	4261	6456	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655287G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1933G>A	19.37:g.19655287G>A	ENSP00000291495:p.Val645Met					CILP2_ENST00000291495.4_Missense_Mutation_p.V645M	p.V651M			Q8IUL8	CILP2_HUMAN			8	2053	+			645					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1951G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633583	0.47049	.	.	ENSG00000160161	ENST00000291495	T	0.52526	0.66	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	L	0.44542	1.39	0.53688	D	0.999978	D;D	0.67145	0.996;0.996	P;P	0.58391	0.838;0.791	T	0.51148	-0.8742	10	0.31617	T	0.26	-26.7973	14.923	0.70854	0.0:0.0:1.0:0.0	.	645;645	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	M	645	ENSP00000291495:V645M	ENSP00000291495:V645M	V	+	1	0	CILP2	19516287	1.000000	0.71417	0.980000	0.43619	0.938000	0.57974	6.449000	0.73473	2.107000	0.64212	0.485000	0.47835	GTG		0.731	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		25	43	0	0	0	0.667858	0	25	43				
ALG6	29929	broad.mit.edu	37	1	63879791	63879791	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:63879791G>T	ENST00000371108.4	+	10	1181	c.876G>T	c.(874-876)ttG>ttT	p.L292F	ALG6_ENST00000263440.4_Missense_Mutation_p.L294F	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	292					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGATATTTTGCCACGTCACA	0.284																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(874-876)ttG>ttT		ALG6, alpha-1,3-glucosyltransferase							101.0	107.0	105.0					1																	63879791		2203	4298	6501	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63879791G>T	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.876G>T	1.37:g.63879791G>T	ENSP00000360149:p.Leu292Phe					ALG6_ENST00000263440.4_Missense_Mutation_p.L294F	p.L292F	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			10	1181	+			292					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.876G>T	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	G	6.625	0.483722	0.12581	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	D;D	0.84730	-1.89;-1.89	4.34	3.43	0.39272	.	0.436424	0.22012	N	0.065858	T	0.46328	0.1387	N	0.04162	-0.26	0.47547	D	0.999454	B;B	0.29481	0.245;0.001	B;B	0.35039	0.194;0.006	T	0.47824	-0.9087	10	0.07813	T	0.8	-16.0239	5.8713	0.18805	0.3662:0.0:0.6338:0.0	.	91;294	B4DHV8;A2A2G4	.;.	F	292;294;91	ENSP00000360149:L292F;ENSP00000263440:L294F	ENSP00000263440:L294F	L	+	3	2	ALG6	63652379	1.000000	0.71417	0.993000	0.49108	0.909000	0.53808	1.423000	0.34837	0.934000	0.37316	0.655000	0.94253	TTG		0.284	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		19	45	1	0	3.62473e-10	0.608945	4.33392e-10	19	45				
WDR11	55717	broad.mit.edu	37	10	122612036	122612036	+	Splice_Site	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:122612036G>A	ENST00000263461.6	+	2	333	c.87G>A	c.(85-87)tgG>tgA	p.W29*	WDR11-AS1_ENST00000598981.1_RNA	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTTTTGCTAGGGGCTGGCAAG	0.363																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.e2-1		WD repeat domain 11							141.0	140.0	140.0					10																	122612036		2203	4300	6503	SO:0001630	splice_region_variant	55717					integral to membrane		g.chr10:122612036G>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.87-1G>A	10.37:g.122612036G>A							p.W29_splice	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			2	333	+			29					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000263461.6	37	c.86_splice	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	39	7.747878	0.98468	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9772	0.97314	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000263461:W29X	W	+	3	0	WDR11	122602026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.641000	0.91032	2.714000	0.92807	0.650000	0.86243	TGG		0.363	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		Nonsense_Mutation	13	14	0	0	0	0.435327	0	13	14				
DLG1	1739	broad.mit.edu	37	3	196865135	196865135	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:196865135A>C	ENST00000419354.1	-	10	1226	c.940T>G	c.(940-942)Tca>Gca	p.S314A	DLG1_ENST00000314062.3_Missense_Mutation_p.S263A|DLG1_ENST00000346964.2_Missense_Mutation_p.S314A|DLG1_ENST00000443183.1_Missense_Mutation_p.S198A|DLG1_ENST00000357674.4_Missense_Mutation_p.S281A|DLG1_ENST00000452595.1_Missense_Mutation_p.S198A|DLG1_ENST00000450955.1_Missense_Mutation_p.S281A|DLG1_ENST00000448528.2_Missense_Mutation_p.S314A|DLG1_ENST00000392382.2_Missense_Mutation_p.S281A|DLG1_ENST00000422288.1_Missense_Mutation_p.S263A			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	314					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTTTTTCTGACACTGGTTTC	0.338																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(940-942)Tca>Gca		discs, large homolog 1 (Drosophila)							163.0	153.0	157.0					3																	196865135		2203	4299	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196865135A>C	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.940T>G	3.37:g.196865135A>C	ENSP00000407531:p.Ser314Ala					DLG1_ENST00000357674.4_Missense_Mutation_p.S281A|DLG1_ENST00000314062.3_Missense_Mutation_p.S263A|DLG1_ENST00000448528.2_Missense_Mutation_p.S314A|DLG1_ENST00000452595.1_Missense_Mutation_p.S198A|DLG1_ENST00000450955.1_Missense_Mutation_p.S281A|DLG1_ENST00000443183.1_Missense_Mutation_p.S198A|DLG1_ENST00000422288.1_Missense_Mutation_p.S263A|DLG1_ENST00000419354.1_Missense_Mutation_p.S314A|DLG1_ENST00000392382.2_Missense_Mutation_p.S281A	p.S314A	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	10	1129	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	314					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.940T>G	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	A	4.073	0.011382	0.07912	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.4	4.1	0.47936	PDZ/DHR/GLGF (2);	0.139267	0.47455	D	0.000222	T	0.07954	0.0199	N	0.17312	0.475	0.33781	D	0.62426	B;B;B;B;B;B;B	0.11235	0.001;0.0;0.0;0.0;0.0;0.0;0.004	B;B;B;B;B;B;B	0.12837	0.008;0.001;0.001;0.001;0.003;0.001;0.004	T	0.19321	-1.0309	10	0.02654	T	1	.	8.1222	0.30978	0.6525:0.0:0.0:0.3475	.	281;198;198;198;281;314;314	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	A	314;314;281;314;263;314;198;263;314;198;281;281;123	ENSP00000345731:S314A;ENSP00000350303:S281A;ENSP00000321087:S263A;ENSP00000407531:S314A;ENSP00000398939:S198A;ENSP00000413238:S263A;ENSP00000391732:S314A;ENSP00000396658:S198A;ENSP00000376187:S281A;ENSP00000411278:S281A;ENSP00000398702:S123A	ENSP00000321087:S263A	S	-	1	0	DLG1	198349532	0.710000	0.27896	1.000000	0.80357	0.994000	0.84299	1.291000	0.33330	2.165000	0.68154	0.460000	0.39030	TCA		0.338	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		69	44	0	0	0	0.870114	0	69	44				
RHOJ	57381	broad.mit.edu	37	14	63671683	63671683	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:63671683G>C	ENST00000316754.3	+	1	558	c.96G>C	c.(94-96)gtG>gtC	p.V32V	RHOJ_ENST00000555125.1_Silent_p.V32V|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	32					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACGGTGCCGTGGGGAAAACCT	0.547																																						ENST00000316754.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21						c.(94-96)gtG>gtC		ras homolog family member J							130.0	98.0	109.0					14																	63671683		2203	4300	6503	SO:0001819	synonymous_variant	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63671683G>C	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.96G>C	14.37:g.63671683G>C						RHOJ_ENST00000555125.1_Silent_p.V32V|RHOJ_ENST00000557133.1_3'UTR	p.V32V	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	1	558	+			32					Q96KC1	Silent	SNP	ENST00000316754.3	37	c.96G>C	CCDS9757.1																																																																																				0.547	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			17	21	0	0	0	0.539581	0	17	21				
UNC79	57578	broad.mit.edu	37	14	94158111	94158111	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:94158111T>C	ENST00000393151.2	+	47	7406	c.7406T>C	c.(7405-7407)aTg>aCg	p.M2469T	UNC79_ENST00000553484.1_Missense_Mutation_p.M2491T|UNC79_ENST00000256339.4_Missense_Mutation_p.M2292T|UNC79_ENST00000555664.1_Missense_Mutation_p.M2430T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2469					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGCTGCACATGTGCTCCCTC	0.532																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7471-7473)aTg>aCg		unc-79 homolog (C. elegans)							137.0	113.0	121.0					14																	94158111		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94158111T>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7406T>C	14.37:g.94158111T>C	ENSP00000376858:p.Met2469Thr					UNC79_ENST00000256339.4_Missense_Mutation_p.M2292T|UNC79_ENST00000393151.2_Missense_Mutation_p.M2469T|UNC79_ENST00000555664.1_Missense_Mutation_p.M2430T	p.M2491T			Q9P2D8	UNC79_HUMAN			48	7626	+			2469					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7472T>C		.	.	.	.	.	.	.	.	.	.	T	17.57	3.423652	0.62733	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.24723	1.85;1.88;1.84;1.85	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.73962	2.25	0.80722	D	1	B	0.29508	0.246	B	0.34138	0.176	T	0.24297	-1.0164	10	0.87932	D	0	-23.0879	16.1264	0.81397	0.0:0.0:0.0:1.0	.	2491	C9JQL1	.	T	2292;2430;2491;2469;2491	ENSP00000256339:M2292T;ENSP00000450868:M2430T;ENSP00000451360:M2491T;ENSP00000376858:M2469T	ENSP00000256339:M2292T	M	+	2	0	KIAA1409	93227864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.202000	0.70862	0.533000	0.62120	ATG		0.532	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	53	0	0	0	0.278610	0	7	53				
GH2	2689	broad.mit.edu	37	17	61958159	61958159	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:61958159T>C	ENST00000423893.2	-	4	490	c.429A>G	c.(427-429)ctA>ctG	p.L143L	GH2_ENST00000332800.7_Silent_p.L143L|GH2_ENST00000456543.2_Silent_p.L143L|GH2_ENST00000449787.2_Silent_p.L128L			P01242	SOM2_HUMAN	growth hormone 2	143					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGCCTTCCTCTAGGTCCTTCA	0.617																																						ENST00000332800.7																			0				breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(427-429)ctA>ctG		growth hormone 2							88.0	85.0	86.0					17																	61958159		2203	4300	6503	SO:0001819	synonymous_variant	2689					extracellular region	hormone activity	g.chr17:61958159T>C	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.429A>G	17.37:g.61958159T>C						GH2_ENST00000456543.2_Silent_p.L143L|GH2_ENST00000449787.2_Silent_p.L128L|GH2_ENST00000423893.2_Silent_p.L143L	p.L143L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			4	562	-			143					B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	ENST00000423893.2	37	c.429A>G	CCDS11647.1																																																																																				0.617	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		39	71	0	0	0	0.827153	0	39	71				
FAM101A	144347	broad.mit.edu	37	12	124799005	124799005	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:124799005C>T	ENST00000389727.3	+	3	585	c.585C>T	c.(583-585)acC>acT	p.T195T	FAM101A_ENST00000324038.3_Silent_p.T114T|FAM101A_ENST00000546355.1_Silent_p.T114T|FAM101A_ENST00000338359.4_Silent_p.T114T			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	195										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCTGGTTCACCGCCAGCGTGC	0.711																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(583-585)acC>acT		family with sequence similarity 101, member A							18.0	20.0	20.0					12																	124799005		2172	4248	6420	SO:0001819	synonymous_variant	144347							g.chr12:124799005C>T		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.585C>T	12.37:g.124799005C>T						FAM101A_ENST00000338359.4_Silent_p.T114T|FAM101A_ENST00000546355.1_Silent_p.T114T|FAM101A_ENST00000324038.3_Silent_p.T114T	p.T195T			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	585	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		195					A5D8T5	Silent	SNP	ENST00000389727.3	37	c.585C>T																																																																																					0.711	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		4	12	0	0	0	0.307466	0	4	12				
PLA2G4F	255189	broad.mit.edu	37	15	42439928	42439928	+	Silent	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:42439928A>C	ENST00000382396.4	-	12	1178	c.1092T>G	c.(1090-1092)ggT>ggG	p.G364G	PLA2G4F_ENST00000397272.3_Silent_p.G366G			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	364	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.G364G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCGGGTTCCACCCCCGGAAC	0.547																																						ENST00000397272.3																			1	Substitution - coding silent(1)	p.G364G(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1096-1098)ggT>ggG		phospholipase A2, group IVF							51.0	55.0	54.0					15																	42439928		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439928A>C		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1092T>G	15.37:g.42439928A>C						PLA2G4F_ENST00000382396.4_Silent_p.G364G	p.G366G	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1189	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	364			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.1098T>G	CCDS32204.1																																																																																				0.547	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		6	42	0	0	0	0.608945	0	6	42				
FAT2	2196	broad.mit.edu	37	5	150924395	150924395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:150924395T>C	ENST00000261800.5	-	9	6305	c.6293A>G	c.(6292-6294)gAc>gGc	p.D2098G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2098	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCCCCAAGTCCTCATCAGT	0.448																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6292-6294)gAc>gGc		FAT atypical cadherin 2							122.0	127.0	125.0					5																	150924395		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924395T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6293A>G	5.37:g.150924395T>C	ENSP00000261800:p.Asp2098Gly						p.D2098G	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6305	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2098			Cadherin 18.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6293A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004394	0.74932	.	.	ENSG00000086570	ENST00000261800	T	0.74632	-0.86	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.91472	0.7308	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94464	0.7679	10	0.72032	D	0.01	.	15.8411	0.78845	0.0:0.0:0.0:1.0	.	2098	Q9NYQ8	FAT2_HUMAN	G	2098	ENSP00000261800:D2098G	ENSP00000261800:D2098G	D	-	2	0	FAT2	150904588	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.967000	0.87967	2.147000	0.66899	0.459000	0.35465	GAC		0.448	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		49	18	0	0	0	0.870114	0	49	18				
INTS5	80789	broad.mit.edu	37	11	62414590	62414590	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:62414590G>A	ENST00000330574.2	-	2	3014	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	988					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACACTGTGCAGCACAGCCAGA	0.602																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2962-2964)Ctg>Ttg		integrator complex subunit 5							125.0	109.0	114.0					11																	62414590		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414590G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2962C>T	11.37:g.62414590G>A							p.L988L	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	3014	-			988					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2962C>T	CCDS8027.1																																																																																				0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		4	148	0	0	0	0.150653	0	4	148				
PRKCG	5582	broad.mit.edu	37	19	54409991	54409991	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:54409991T>C	ENST00000263431.3	+	18	2218	c.1936T>C	c.(1936-1938)Ttc>Ctc	p.F646L	PRKCG_ENST00000540413.1_Missense_Mutation_p.F646L|CACNG7_ENST00000391767.1_5'Flank|PRKCG_ENST00000542049.1_Missense_Mutation_p.F497L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	646	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CTTTGACAAGTTCTTCACGCG	0.647											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(1936-1938)Ttc>Ctc		protein kinase C, gamma							53.0	58.0	57.0					19																	54409991		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54409991T>C	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1936T>C	19.37:g.54409991T>C	ENSP00000263431:p.Phe646Leu		OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	PRKCG_ENST00000540413.1_Missense_Mutation_p.F646L|PRKCG_ENST00000542049.1_Missense_Mutation_p.F497L	p.F646L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	18	2218	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		646			AGC-kinase C-terminal.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1936T>C	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.864781	0.71949	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.57107	0.42;0.42;0.42	4.43	3.39	0.38822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	.	.	.	.	T	0.48132	0.1483	M	0.75447	2.3	0.43988	D	0.996681	B;B;B	0.33345	0.409;0.325;0.067	B;B;B	0.30572	0.117;0.062;0.066	T	0.36841	-0.9731	9	0.30078	T	0.28	.	8.7836	0.34807	0.1689:0.0:0.0:0.8311	.	497;646;646	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	L	646;646;497	ENSP00000443493:F646L;ENSP00000263431:F646L;ENSP00000438090:F497L	ENSP00000263431:F646L	F	+	1	0	PRKCG	59101803	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.386000	0.66238	0.653000	0.30826	0.459000	0.35465	TTC		0.647	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		3	125	0	0	0	0.150653	0	3	125				
CSMD2	114784	broad.mit.edu	37	1	34204867	34204867	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:34204867G>C	ENST00000373381.4	-	15	2418	c.2242C>G	c.(2242-2244)Cag>Gag	p.Q748E		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	708	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGCCCAGCTGGAGGCTGTCC	0.572																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2242-2244)Cag>Gag		CUB and Sushi multiple domains 2							88.0	88.0	88.0					1																	34204867		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34204867G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2242C>G	1.37:g.34204867G>C	ENSP00000362479:p.Gln748Glu						p.Q748E	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			15	2418	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	708			Sushi 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2242C>G		.	.	.	.	.	.	.	.	.	.	G	17.21	3.331550	0.60853	.	.	ENSG00000121904	ENST00000373381	T	0.64085	-0.08	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	L	0.42632	1.34	0.80722	D	1	D;P	0.52996	0.957;0.892	P;P	0.62885	0.877;0.908	T	0.59198	-0.7499	10	0.02654	T	1	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	708;748	Q7Z408;E7EUA6	CSMD2_HUMAN;.	E	748	ENSP00000362479:Q748E	ENSP00000241312:Q708E	Q	-	1	0	CSMD2	33977454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CAG		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		32	101	0	0	0	0.788014	0	32	101				
CFH	3075	broad.mit.edu	37	1	196684815	196684815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:196684815G>T	ENST00000367429.4	+	11	1852	c.1612G>T	c.(1612-1614)Gat>Tat	p.D538Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	538	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAATGCCATGATGGTTATGA	0.378																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1612-1614)Gat>Tat		complement factor H							252.0	236.0	241.0					1																	196684815		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684815G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1612G>T	1.37:g.196684815G>T	ENSP00000356399:p.Asp538Tyr						p.D538Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			11	1852	+			538			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1612G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120439	0.37436	.	.	ENSG00000000971	ENST00000367429	T	0.65732	-0.17	5.65	1.48	0.22813	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.73063	0.3539	M	0.78916	2.43	0.09310	N	1	D	0.63046	0.992	D	0.63877	0.919	T	0.60234	-0.7303	9	0.56958	D	0.05	.	6.0571	0.19816	0.1638:0.2915:0.5447:0.0	.	538	P08603	CFAH_HUMAN	Y	538	ENSP00000356399:D538Y	ENSP00000356399:D538Y	D	+	1	0	CFH	194951438	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.256000	0.08757	0.018000	0.15052	0.655000	0.94253	GAT		0.378	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		27	112	1	0	3.65163e-15	0.706142	4.75909e-15	27	112				
PLEKHG3	26030	broad.mit.edu	37	14	65208842	65208842	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:65208842C>T	ENST00000394691.1	+	16	2754	c.2607C>T	c.(2605-2607)tcC>tcT	p.S869S	PLEKHG3_ENST00000484731.2_Silent_p.S374S|PLEKHG3_ENST00000247226.7_Silent_p.S813S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Silent_p.S402S			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	869							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGAAAGCTCCTCTCCCACTG	0.652																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2437-2439)tcC>tcT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							20.0	26.0	24.0					14																	65208842		2202	4298	6500	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208842C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2607C>T	14.37:g.65208842C>T						PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Silent_p.S374S|PLEKHG3_ENST00000471182.2_Silent_p.S402S|PLEKHG3_ENST00000394691.1_Silent_p.S869S	p.S813S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	2747	+			869					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.2439C>T																																																																																					0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		22	18	0	0	0	0.608945	0	22	18				
ZNF536	9745	broad.mit.edu	37	19	31039034	31039034	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:31039034C>A	ENST00000355537.3	+	4	2655	c.2508C>A	c.(2506-2508)gaC>gaA	p.D836E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	836					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGGCCAGACATCCTGAGGG	0.582																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2506-2508)gaC>gaA		zinc finger protein 536							68.0	77.0	74.0					19																	31039034		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039034C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2508C>A	19.37:g.31039034C>A	ENSP00000347730:p.Asp836Glu						p.D836E	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2655	+	Esophageal squamous(110;0.0834)		836					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2508C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.443	0.851197	0.17034	.	.	ENSG00000198597	ENST00000355537	T	0.08458	3.09	5.98	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.05640	0.0148	L	0.34521	1.04	0.39558	D	0.96908	B;B	0.21606	0.058;0.058	B;B	0.20184	0.028;0.028	T	0.34700	-0.9818	10	0.14252	T	0.57	-43.9449	5.4931	0.16787	0.1308:0.5983:0.0:0.2709	.	836;836	A7E228;O15090	.;ZN536_HUMAN	E	836	ENSP00000347730:D836E	ENSP00000347730:D836E	D	+	3	2	ZNF536	35730874	0.918000	0.31147	1.000000	0.80357	0.851000	0.48451	0.025000	0.13577	0.878000	0.35920	0.591000	0.81541	GAC		0.582	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		27	57	1	0	3.65163e-15	0.706142	4.75909e-15	27	57				
MOGS	7841	broad.mit.edu	37	2	74689333	74689333	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:74689333G>T	ENST00000233616.4	-	4	1745	c.1583C>A	c.(1582-1584)cCt>cAt	p.P528H	MOGS_ENST00000452063.2_Missense_Mutation_p.P422H|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	528					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CAAGTCGTCAGGGTCACCAAC	0.597																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1582-1584)cCt>cAt		mannosyl-oligosaccharide glucosidase							71.0	78.0	75.0					2																	74689333		1999	4176	6175	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689333G>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1583C>A	2.37:g.74689333G>T	ENSP00000233616:p.Pro528His					MOGS_ENST00000452063.2_Missense_Mutation_p.P422H|MOGS_ENST00000409065.1_3'UTR	p.P528H	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1745	-			528					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1583C>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447535	0.43429	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.37235	1.21;1.21;1.21	5.19	5.19	0.71726	Six-hairpin glycosidase-like (1);	0.335249	0.31312	N	0.007874	T	0.43255	0.1239	L	0.31752	0.955	0.80722	D	1	D	0.76494	0.999	D	0.63113	0.911	T	0.19289	-1.0310	10	0.46703	T	0.11	-10.4547	11.8498	0.52405	0.0:0.1758:0.8241:0.0	.	528	Q13724	MOGS_HUMAN	H	528;422;422	ENSP00000233616:P528H;ENSP00000388201:P422H;ENSP00000410992:P422H	ENSP00000233616:P528H	P	-	2	0	MOGS	74542841	0.988000	0.35896	0.972000	0.41901	0.895000	0.52256	4.206000	0.58473	2.710000	0.92621	0.655000	0.94253	CCT		0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		24	86	1	0	4.81078e-24	0.639603	6.48232e-24	24	86				
STAC2	342667	broad.mit.edu	37	17	37369370	37369370	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:37369370G>T	ENST00000333461.5	-	10	1378	c.1009C>A	c.(1009-1011)Cgg>Agg	p.R337R		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	337	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						AAGCCAACCCGGTCGCCGATC	0.607																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(1009-1011)Cgg>Agg		SH3 and cysteine rich domain 2							52.0	56.0	54.0					17																	37369370		2203	4300	6503	SO:0001819	synonymous_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37369370G>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1009C>A	17.37:g.37369370G>T							p.R337R	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			10	1378	-			337			SH3.		Q32MA3	Silent	SNP	ENST00000333461.5	37	c.1009C>A	CCDS11335.1																																																																																				0.607	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		28	32	1	0	1.77063e-15	0.693898	2.34609e-15	28	32				
TRIM33	51592	broad.mit.edu	37	1	114964164	114964164	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:114964164T>A	ENST00000358465.2	-	11	2038	c.1955A>T	c.(1954-1956)aAt>aTt	p.N652I	TRIM33_ENST00000450349.2_Missense_Mutation_p.N260I|TRIM33_ENST00000369543.2_Missense_Mutation_p.N652I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	652					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGTTTGCATTTGCCATAGT	0.502			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1954-1956)aAt>aTt		tripartite motif containing 33							360.0	283.0	309.0					1																	114964164		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114964164T>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1955A>T	1.37:g.114964164T>A	ENSP00000351250:p.Asn652Ile					TRIM33_ENST00000369543.2_Missense_Mutation_p.N652I|TRIM33_ENST00000450349.2_Missense_Mutation_p.N260I	p.N652I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2038	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	652					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1955A>T	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.46|18.46	3.629032|3.629032	0.67015|0.67015	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.74947	.|-0.8;-0.71;-0.89	5.87|5.87	3.47|3.47	0.39725|0.39725	.|.	.|0.221042	.|0.56097	.|D	.|0.000035	T|T	0.48114|0.48114	0.1482|0.1482	L|L	0.44542|0.44542	1.39|1.39	0.50313|0.50313	D|D	0.999865|0.999865	.|B;B;P;B	.|0.36909	.|0.177;0.087;0.573;0.437	.|B;B;B;B	.|0.34590	.|0.049;0.049;0.186;0.091	T|T	0.49799|0.49799	-0.8901|-0.8901	5|10	.|0.35671	.|T	.|0.21	-13.4972|-13.4972	8.6559|8.6559	0.34062|0.34062	0.0:0.2368:0.0:0.7632|0.0:0.2368:0.0:0.7632	.|.	.|260;260;652;652	.|E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.|.;.;.;TRI33_HUMAN	L|I	389|652;652;260	.|ENSP00000351250:N652I;ENSP00000358556:N652I;ENSP00000412077:N260I	.|ENSP00000351250:N652I	M|N	-|-	1|2	0|0	TRIM33|TRIM33	114765687|114765687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.601000|1.601000	0.36773|0.36773	1.094000|1.094000	0.41399|0.41399	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.502	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		30	45	0	0	0	0.796494	0	30	45				
NDUFB3	4709	broad.mit.edu	37	2	201943659	201943659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:201943659T>G	ENST00000237889.4	+	2	377	c.54T>G	c.(52-54)gaT>gaG	p.D18E	NDUFB3_ENST00000454214.1_Missense_Mutation_p.D18E|RNU6-1206P_ENST00000516339.1_RNA|NDUFB3_ENST00000433898.1_Missense_Mutation_p.D18E	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	18					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)|urinary_tract(1)	3						AACTTCCAGATTATAGACAAT	0.408																																						ENST00000237889.4																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(52-54)gaT>gaG		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	NADH(DB00157)						74.0	72.0	73.0					2																	201943659		2203	4300	6503	SO:0001583	missense	4709				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr2:201943659T>G	AF047183	CCDS2336.1	2q33.1	2011-07-04	2002-08-29		ENSG00000119013	ENSG00000119013		"""Mitochondrial respiratory chain complex / Complex I"""	7698	protein-coding gene	gene with protein product	"""complex I B12 subunit"""	603839	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12)"""			9425316, 11474204	Standard	NM_002491		Approved	B12	uc002uwx.4	O43676	OTTHUMG00000132820	ENST00000237889.4:c.54T>G	2.37:g.201943659T>G	ENSP00000237889:p.Asp18Glu					NDUFB3_ENST00000454214.1_Missense_Mutation_p.D18E|NDUFB3_ENST00000433898.1_Missense_Mutation_p.D18E	p.D18E	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN			2	377	+			18					Q6IB80	Missense_Mutation	SNP	ENST00000237889.4	37	c.54T>G	CCDS2336.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142676	0.57044	.	.	ENSG00000119013	ENST00000450023;ENST00000237889;ENST00000433898;ENST00000454214	D;T;T;T	0.82526	-1.62;-1.27;-1.27;-1.27	5.11	2.74	0.32292	.	0.000000	0.85682	D	0.000000	D	0.89118	0.6624	.	.	.	0.45621	D	0.998556	D	0.76494	0.999	D	0.78314	0.991	D	0.87116	0.2188	9	0.72032	D	0.01	-3.0903	7.4336	0.27141	0.0:0.2513:0.0:0.7487	.	18	O43676	NDUB3_HUMAN	E	18	ENSP00000401834:D18E;ENSP00000237889:D18E;ENSP00000410600:D18E;ENSP00000407336:D18E	ENSP00000237889:D18E	D	+	3	2	NDUFB3	201651904	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	0.522000	0.22909	0.374000	0.24650	-0.250000	0.11733	GAT		0.408	NDUFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256277.1	NM_002491		4	49	0	0	0	0.150653	0	4	49				
CRYBB3	1417	broad.mit.edu	37	22	25598707	25598707	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr22:25598707C>A	ENST00000215855.2	+	3	222	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	CRYBB3_ENST00000404334.1_Missense_Mutation_p.L48M	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	48	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GTGCCCCAGCCTGACCGACAG	0.602											OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(142-144)Ctg>Atg		crystallin, beta B3							63.0	61.0	62.0					22																	25598707		2203	4300	6503	SO:0001583	missense	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25598707C>A		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.142C>A	22.37:g.25598707C>A	ENSP00000215855:p.Leu48Met		OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	780	CRYBB3_ENST00000404334.1_Missense_Mutation_p.L48M	p.L48M	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			3	222	+			48			Beta/gamma crystallin 'Greek key' 1.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	c.142C>A	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275228	0.59649	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.80123	-1.34;-1.34	4.45	1.12	0.20585	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.156361	0.43579	D	0.000555	D	0.83667	0.5304	L	0.58583	1.82	0.41178	D	0.986218	D	0.60575	0.988	D	0.76071	0.987	T	0.80023	-0.1556	10	0.49607	T	0.09	.	5.772	0.18259	0.0:0.5156:0.3037:0.1807	.	48	P26998	CRBB3_HUMAN	M	48	ENSP00000215855:L48M;ENSP00000386123:L48M	ENSP00000215855:L48M	L	+	1	2	CRYBB3	23928707	0.894000	0.30519	0.995000	0.50966	0.963000	0.63663	0.583000	0.23849	0.316000	0.23135	0.555000	0.69702	CTG		0.602	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		19	34	1	0	9.62636e-23	0.624587	1.28621e-22	19	34				
SSTR3	6753	broad.mit.edu	37	22	37603421	37603421	+	Missense_Mutation	SNP	C	C	T	rs373095766		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr22:37603421C>T	ENST00000328544.3	-	2	955	c.422G>A	c.(421-423)cGc>cAc	p.R141H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R141H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	141					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GGCCAGGTAGCGGTCCACGCT	0.667																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(421-423)cGc>cAc		somatostatin receptor 3							95.0	87.0	90.0					22																	37603421		2203	4300	6503	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603421C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.422G>A	22.37:g.37603421C>T	ENSP00000330138:p.Arg141His					SSTR3_ENST00000402501.1_Missense_Mutation_p.R141H	p.R141H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	955	-			141					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.422G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428700	0.96131	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	D;D	0.97161	-4.27;-4.27	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99299	0.9755	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98455	1.0593	10	0.87932	D	0	.	20.1238	0.97972	0.0:1.0:0.0:0.0	.	141	P32745	SSR3_HUMAN	H	141	ENSP00000330138:R141H;ENSP00000384904:R141H	ENSP00000330138:R141H	R	-	2	0	SSTR3	35933367	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.764000	0.94973	0.557000	0.71058	CGC		0.667	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			61	71	0	0	0	0.870114	0	61	71				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	30	0	0	0	0.184627	0	4	30				
OR2T8	343172	broad.mit.edu	37	1	248084827	248084827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:248084827C>A	ENST00000319968.4	+	1	508	c.508C>A	c.(508-510)Cac>Aac	p.H170N		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGCGGTGCACACGAGATCGA	0.567																																						ENST00000319968.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(508-510)Cac>Aac		olfactory receptor, family 2, subfamily T, member 8							56.0	41.0	46.0					1																	248084827		2197	4281	6478	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084827C>A		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.508C>A	1.37:g.248084827C>A	ENSP00000326225:p.His170Asn						p.H170N	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	508	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	170						Missense_Mutation	SNP	ENST00000319968.4	37	c.508C>A	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025737	0.19512	.	.	ENSG00000177462	ENST00000319968	T	0.00018	9.07	3.56	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	1.425500	0.05080	N	0.483217	T	0.00039	0.0001	N	0.01109	-1.01	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.16217	-1.0410	10	0.54805	T	0.06	.	2.7889	0.05381	0.2389:0.5005:0.0:0.2606	.	170	A6NH00	OR2T8_HUMAN	N	170	ENSP00000326225:H170N	ENSP00000326225:H170N	H	+	1	0	OR2T8	246151450	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	0.159000	0.16442	0.694000	0.31654	0.404000	0.27445	CAC		0.567	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		3	24	1	0	3.07112e-06	0.387290	3.48791e-06	3	24				
PLCH1	23007	broad.mit.edu	37	3	155199435	155199435	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:155199435C>A	ENST00000340059.7	-	23	4403	c.4404G>T	c.(4402-4404)atG>atT	p.M1468I	PLCH1_ENST00000414191.1_Missense_Mutation_p.M1430I|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.M1430I|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.M1430I	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1468					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGGGACATGCATATCTTGAG	0.473																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4288-4290)atG>atT		phospholipase C, eta 1							115.0	109.0	111.0					3																	155199435		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199435C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4404G>T	3.37:g.155199435C>A	ENSP00000345988:p.Met1468Ile					PLCH1_ENST00000414191.1_Missense_Mutation_p.M1430I|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.M1468I|PLCH1_ENST00000334686.6_Missense_Mutation_p.M1430I|PLCH1_ENST00000494598.1_Intron	p.M1430I			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4647	-			1468					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4290G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	0.799	-0.755984	0.03019	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.13	3.32	0.38043	.	3.222670	0.00664	N	0.000616	T	0.18130	0.0435	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.17319	-1.0373	10	0.36615	T	0.2	.	9.1302	0.36841	0.0:0.7741:0.0:0.2259	.	1430;1468	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	I	1430;1468;1430;1430	ENSP00000417502:M1430I;ENSP00000345988:M1468I;ENSP00000335469:M1430I;ENSP00000412977:M1430I	ENSP00000335469:M1430I	M	-	3	0	PLCH1	156682129	0.033000	0.19621	0.121000	0.21740	0.003000	0.03518	0.145000	0.16157	1.160000	0.42584	-0.145000	0.13849	ATG		0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		14	121	1	0	4.3838e-07	0.435327	5.0509e-07	14	121				
TDRD6	221400	broad.mit.edu	37	6	46661854	46661854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr6:46661854G>T	ENST00000316081.6	+	1	5989	c.5989G>T	c.(5989-5991)Gag>Tag	p.E1997*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E1997*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1997					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTGTTCTCTGAGGAAGAAAG	0.318																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5989-5991)Gag>Tag		tudor domain containing 6							104.0	106.0	105.0					6																	46661854		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661854G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5989G>T	6.37:g.46661854G>T	ENSP00000346065:p.Glu1997*					TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1997*	p.E1997*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	6243	+			1997					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.5989G>T	CCDS34470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.028583|11.028583	0.99505|0.99505	.|.	.|.	ENSG00000180113|ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334|ENST00000450697	.|.	.|.	.|.	5.07|5.07	3.26|3.26	0.37387|0.37387	.|.	0.323644|.	0.26362|.	N|.	0.024809|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.54805|.	T|.	0.06|.	-12.2551|-12.2551	7.9914|7.9914	0.30242|0.30242	0.1928:0.0:0.8072:0.0|0.1928:0.0:0.8072:0.0	.|.	.|.	.|.	.|.	X|L	1997;1997;58|49	.|.	ENSP00000346065:E1997X|.	E|X	+|+	1|2	0|2	TDRD6|TDRD6	46769813|46769813	0.954000|0.954000	0.32549|0.32549	0.124000|0.124000	0.21820|0.21820	0.044000|0.044000	0.14063|0.14063	1.743000|1.743000	0.38258|0.38258	0.520000|0.520000	0.28426|0.28426	0.557000|0.557000	0.71058|0.71058	GAG|TGA		0.318	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		11	124	1	0	0.00244969	0.457914	0.00263177	11	124				
ASPM	259266	broad.mit.edu	37	1	197111716	197111716	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:197111716T>C	ENST00000367409.4	-	3	1922	c.1666A>G	c.(1666-1668)Aag>Gag	p.K556E	ASPM_ENST00000294732.7_Missense_Mutation_p.K556E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	556					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTATAACTCTTAGATTTACTT	0.353																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1666-1668)Aag>Gag		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							89.0	95.0	93.0					1																	197111716		2202	4299	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111716T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1666A>G	1.37:g.197111716T>C	ENSP00000356379:p.Lys556Glu					ASPM_ENST00000294732.7_Missense_Mutation_p.K556E	p.K556E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1922	-			556					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1666A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559516	0.65538	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58652	0.32;1.6	5.56	-0.683	0.11335	.	0.819993	0.11184	N	0.590692	T	0.44871	0.1314	L	0.51422	1.61	0.09310	N	1	B;B	0.29716	0.006;0.255	B;B	0.26614	0.005;0.071	T	0.32955	-0.9887	10	0.44086	T	0.13	.	5.5188	0.16921	0.0:0.2151:0.227:0.558	.	556;556	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	E	556	ENSP00000356379:K556E;ENSP00000294732:K556E	ENSP00000294732:K556E	K	-	1	0	ASPM	195378339	0.000000	0.05858	0.000000	0.03702	0.922000	0.55478	0.292000	0.19011	-0.047000	0.13423	0.472000	0.43445	AAG		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		42	54	0	0	0	0.840704	0	42	54				
OR5B17	219965	broad.mit.edu	37	11	58125655	58125655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:58125655C>A	ENST00000357377.3	-	1	887	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATGCATTCTTCACGTCTT	0.368																																						ENST00000357377.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(886-888)aaG>aaT		olfactory receptor, family 5, subfamily B, member 17							125.0	122.0	123.0					11																	58125655		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125655C>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.888G>T	11.37:g.58125655C>A	ENSP00000349945:p.Lys296Asn						p.K296N	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	887	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	296					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.888G>T	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	c	2.148	-0.395270	0.04899	.	.	ENSG00000197786	ENST00000357377	T	0.40756	1.02	2.63	1.71	0.24356	.	.	.	.	.	T	0.45135	0.1327	M	0.86343	2.81	0.09310	N	1	B	0.31752	0.338	B	0.30105	0.111	T	0.45381	-0.9265	9	0.66056	D	0.02	-14.4417	6.4026	0.21646	0.0:0.8496:0.0:0.1504	.	296	Q8NGF7	OR5BH_HUMAN	N	296	ENSP00000349945:K296N	ENSP00000349945:K296N	K	-	3	2	OR5B17	57882231	0.000000	0.05858	0.017000	0.16124	0.077000	0.17291	-1.357000	0.02607	0.309000	0.22966	0.306000	0.20318	AAG		0.368	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		19	105	1	0	1.33834e-09	0.557998	1.59997e-09	19	105				
ZNF500	26048	broad.mit.edu	37	16	4815844	4815844	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr16:4815844G>C	ENST00000219478.6	-	2	435	c.136C>G	c.(136-138)Cct>Gct	p.P46A	ZNF500_ENST00000545009.1_Missense_Mutation_p.P46A			O60304	ZN500_HUMAN	zinc finger protein 500	46					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAAGTCTCAGGGCTGGGGTCC	0.642																																						ENST00000219478.6																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(136-138)Cct>Gct		zinc finger protein 500							34.0	34.0	34.0					16																	4815844		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4815844G>C	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.136C>G	16.37:g.4815844G>C	ENSP00000219478:p.Pro46Ala					ZNF500_ENST00000545009.1_Missense_Mutation_p.P46A	p.P46A			O60304	ZN500_HUMAN			2	435	-			46					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.136C>G	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629267	0.67015	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.06294	3.32;3.32	4.32	4.32	0.51571	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	.	.	.	.	T	0.18215	0.0437	M	0.65320	2	0.25783	N	0.984705	D;D	0.65815	0.995;0.995	P;P	0.62382	0.901;0.901	T	0.04307	-1.0961	9	0.32370	T	0.25	.	12.3259	0.55011	0.0:0.0:1.0:0.0	.	46;46	B4DNN9;O60304	.;ZN500_HUMAN	A	46	ENSP00000445714:P46A;ENSP00000219478:P46A	ENSP00000219478:P46A	P	-	1	0	ZNF500	4755845	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	1.569000	0.36428	1.979000	0.57680	0.655000	0.94253	CCT		0.642	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		14	46	0	0	0	0.457914	0	14	46				
COL1A1	1277	broad.mit.edu	37	17	48273527	48273527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:48273527C>T	ENST00000225964.5	-	15	1109	c.991G>A	c.(991-993)Gcc>Acc	p.A331T		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	331	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGGGGCCCGGCAGCACCAGTA	0.612			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(991-993)Gcc>Acc		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						37.0	39.0	39.0					17																	48273527		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48273527C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.991G>A	17.37:g.48273527C>T	ENSP00000225964:p.Ala331Thr						p.A331T	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			15	1109	-			331			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.991G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585728	0.66105	.	.	ENSG00000108821	ENST00000225964	D	0.93366	-3.21	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.92084	0.7491	N	0.21282	0.65	0.58432	D	0.999991	P	0.41450	0.75	P	0.51453	0.67	D	0.91569	0.5270	10	0.35671	T	0.21	.	17.3045	0.87191	0.0:1.0:0.0:0.0	.	331	P02452	CO1A1_HUMAN	T	331	ENSP00000225964:A331T	ENSP00000225964:A331T	A	-	1	0	COL1A1	45628526	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.640000	0.46579	2.382000	0.81193	0.650000	0.86243	GCC		0.612	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			11	19	0	0	0	0.411799	0	11	19				
SEC16B	89866	broad.mit.edu	37	1	177909817	177909817	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:177909817C>T	ENST00000308284.6	-	17	2144	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	685					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTTCTAAAACCAGAGGATCTG	0.547																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2053-2055)ctG>ctA		SEC16 homolog B (S. cerevisiae)							53.0	60.0	58.0					1																	177909817		2085	4212	6297	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177909817C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2055G>A	1.37:g.177909817C>T						RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	p.L685L	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			17	2144	-			685					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.2055G>A	CCDS44281.1																																																																																				0.547	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		7	26	0	0	0	0.307466	0	7	26				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			38	31	0	0	0	0.812448	0	38	31				
PRKAA1	5562	broad.mit.edu	37	5	40777689	40777689	+	Splice_Site	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr5:40777689C>G	ENST00000397128.2	-	2	136		c.e2-1		PRKAA1_ENST00000296800.4_Splice_Site|PRKAA1_ENST00000354209.3_Splice_Site	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit						activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGTTTGCCAACTGTAAAAGAA	0.378																																						ENST00000397128.2																			0				breast(1)	1						c.e2-1		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						48.0	45.0	46.0					5																	40777689		1815	4076	5891	SO:0001630	splice_region_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40777689C>G		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.128-1G>C	5.37:g.40777689C>G						PRKAA1_ENST00000296800.4_Splice_Site|PRKAA1_ENST00000354209.3_Splice_Site		NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			2	136	-								A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Splice_Site	SNP	ENST00000397128.2	37		CCDS3932.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221832	0.79464	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.066	0.97704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC008810.1	40813446	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.484000	0.81180	2.730000	0.93505	0.650000	0.86243	.		0.378	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251	Intron	36	14	0	0	0	0.788014	0	36	14				
OLFM3	118427	broad.mit.edu	37	1	102269859	102269859	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:102269859T>C	ENST00000338858.5	-	6	1371	c.1372A>G	c.(1372-1374)Aat>Gat	p.N458D	OLFM3_ENST00000370103.4_Missense_Mutation_p.N438D|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	458	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGTGGCCATTGTTCCAGGCA	0.418																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(1312-1314)Aat>Gat		olfactomedin 3							174.0	163.0	167.0					1																	102269859		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102269859T>C	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1372A>G	1.37:g.102269859T>C	ENSP00000345192:p.Asn458Asp					OLFM3_ENST00000338858.5_Missense_Mutation_p.N458D|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	p.N438D	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1525	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	458			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.1312A>G		.	.	.	.	.	.	.	.	.	.	T	21.5	4.153467	0.78114	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.89415	-2.51;-2.51	5.77	5.77	0.91146	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.91623	0.7353	M	0.62723	1.935	0.80722	D	1	B;D	0.69078	0.222;0.997	B;D	0.77004	0.261;0.989	D	0.90406	0.4406	10	0.32370	T	0.25	.	16.0847	0.81038	0.0:0.0:0.0:1.0	.	438;458	Q5T3V6;Q96PB7	.;NOE3_HUMAN	D	438;458	ENSP00000359121:N438D;ENSP00000345192:N458D	ENSP00000345192:N458D	N	-	1	0	OLFM3	102042447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.202000	0.70862	0.528000	0.53228	AAT		0.418	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			54	34	0	0	0	0.870114	0	54	34				
OR2T33	391195	broad.mit.edu	37	1	248436609	248436609	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:248436609G>T	ENST00000318021.2	-	1	529	c.508C>A	c.(508-510)Cac>Aac	p.H170N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCGATCTCGTGTGCACCACAA	0.557																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(508-510)Cac>Aac		olfactory receptor, family 2, subfamily T, member 33							49.0	52.0	51.0					1																	248436609		2201	4289	6490	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436609G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.508C>A	1.37:g.248436609G>T	ENSP00000324687:p.His170Asn						p.H170N	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	529	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		170					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.508C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	1.916	-0.449519	0.04572	.	.	ENSG00000177212	ENST00000318021	T	0.00018	9.07	2.7	0.173	0.15036	GPCR, rhodopsin-like superfamily (1);	1.425500	0.05080	N	0.483217	T	0.00073	0.0002	N	0.02103	-0.685	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.10177	-1.0641	10	0.62326	D	0.03	.	4.3994	0.11379	0.1347:0.0:0.3015:0.5638	.	170	Q8NG76	O2T33_HUMAN	N	170	ENSP00000324687:H170N	ENSP00000324687:H170N	H	-	1	0	OR2T33	246503232	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.221000	0.17680	0.357000	0.24183	0.494000	0.49563	CAC		0.557	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		4	44	1	0	4.68919e-08	0.361761	5.4422e-08	4	44				
PHF20L1	51105	broad.mit.edu	37	8	133858165	133858165	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:133858165A>G	ENST00000395386.2	+	21	3350	c.3051A>G	c.(3049-3051)gtA>gtG	p.V1017V	PHF20L1_ENST00000395390.2_Silent_p.V992V|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Silent_p.V404V|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1017							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTGCTCTGTATGACAACAGT	0.388																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(3049-3051)gtA>gtG		PHD finger protein 20-like 1							77.0	70.0	72.0					8																	133858165		1901	4129	6030	SO:0001819	synonymous_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133858165A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.3051A>G	8.37:g.133858165A>G						PHF20L1_ENST00000395390.2_Silent_p.V992V|PHF20L1_ENST00000220847.7_Silent_p.V404V	p.V1017V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		21	3350	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		1017					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	c.3051A>G	CCDS6367.2																																																																																				0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		21	13	0	0	0	0.624587	0	21	13				
SLC52A1	55065	broad.mit.edu	37	17	4937602	4937602	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:4937602C>A	ENST00000424747.1	-	3	894	c.182G>T	c.(181-183)gGt>gTt	p.G61V	SLC52A1_ENST00000254853.5_Missense_Mutation_p.G61V|SLC52A1_ENST00000512825.2_Missense_Mutation_p.G61V	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	61					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										CACCAGCAGACCCAGGTTTCC	0.627																																						ENST00000512825.2																			0											c.(181-183)gGt>gTt		solute carrier family 52 (riboflavin transporter), member 1							56.0	57.0	56.0					17																	4937602		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937602C>A	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.182G>T	17.37:g.4937602C>A	ENSP00000399979:p.Gly61Val					SLC52A1_ENST00000424747.1_Missense_Mutation_p.G61V|SLC52A1_ENST00000254853.5_Missense_Mutation_p.G61V	p.G61V			Q9NWF4	RFT_HUMAN			3	1593	-			61					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.182G>T	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860469	0.71834	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.80653	-1.4;-1.4;-1.4	2.28	2.28	0.28536	.	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.87734	0.2581	10	0.51188	T	0.08	.	10.5946	0.45329	0.0:1.0:0.0:0.0	.	61;61	F5H5Y1;Q9NWF4	.;RFT_HUMAN	V	61	ENSP00000254853:G61V;ENSP00000443026:G61V;ENSP00000399979:G61V	ENSP00000254853:G61V	G	-	2	0	GPR172B	4878326	0.999000	0.42202	0.994000	0.49952	0.983000	0.72400	5.286000	0.65639	1.578000	0.49821	0.591000	0.81541	GGT		0.627	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		30	54	1	0	4.34311e-12	0.779181	5.52443e-12	30	54				
TTLL5	23093	broad.mit.edu	37	14	76286467	76286467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:76286467C>G	ENST00000298832.9	+	28	3494	c.3289C>G	c.(3289-3291)Caa>Gaa	p.Q1097E	TTLL5_ENST00000556893.1_Missense_Mutation_p.Q648E|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q1112E|TTLL5_ENST00000554510.1_Missense_Mutation_p.Q606E|RP11-270M14.4_ENST00000556207.1_RNA	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1097					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTCAGACCCCCAAGCTCCCGA	0.562																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3289-3291)Caa>Gaa		tubulin tyrosine ligase-like family, member 5							75.0	66.0	69.0					14																	76286467		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76286467C>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3289C>G	14.37:g.76286467C>G	ENSP00000298832:p.Gln1097Glu					RP11-270M14.4_ENST00000556207.1_RNA|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q1112E|TTLL5_ENST00000554510.1_Missense_Mutation_p.Q606E|TTLL5_ENST00000556893.1_Missense_Mutation_p.Q648E	p.Q1097E	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	28	3494	+			1097					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3289C>G	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296914	0.23650	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.22336	4.06;4.14;1.96;1.96	5.84	5.84	0.93424	.	0.632660	0.16349	N	0.218287	T	0.15305	0.0369	N	0.19112	0.55	0.22342	N	0.999184	B;B;B;B	0.26483	0.047;0.122;0.15;0.011	B;B;B;B	0.24541	0.031;0.054;0.031;0.014	T	0.16600	-1.0397	10	0.13108	T	0.6	.	17.3095	0.87205	0.0:1.0:0.0:0.0	.	1112;171;648;1097	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	E	171;1112;1097;648;648;606	ENSP00000450713:Q1112E;ENSP00000298832:Q1097E;ENSP00000452524:Q648E;ENSP00000451946:Q606E	ENSP00000286653:Q171E	Q	+	1	0	TTLL5	75356220	0.911000	0.30947	0.960000	0.40013	0.051000	0.14879	2.865000	0.48412	2.764000	0.94973	0.650000	0.86243	CAA		0.562	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		14	36	0	0	0	0.500413	0	14	36				
VCPIP1	80124	broad.mit.edu	37	8	67576729	67576729	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:67576729G>C	ENST00000310421.4	-	1	2723	c.2465C>G	c.(2464-2466)cCt>cGt	p.P822R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	822					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTCTTTAGGAGGAAACCCGTA	0.383																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2464-2466)cCt>cGt		valosin containing protein (p97)/p47 complex interacting protein 1							131.0	135.0	133.0					8																	67576729		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67576729G>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2465C>G	8.37:g.67576729G>C	ENSP00000309031:p.Pro822Arg						p.P822R	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2723	-		Lung NSC(129;0.142)|all_lung(136;0.227)	822					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.2465C>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876960	0.91664	.	.	ENSG00000175073	ENST00000310421	T	0.68331	-0.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83207	0.5204	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84779	0.0772	10	0.87932	D	0	-12.7103	19.5838	0.95484	0.0:0.0:1.0:0.0	.	822	Q96JH7	VCIP1_HUMAN	R	822	ENSP00000309031:P822R	ENSP00000309031:P822R	P	-	2	0	VCPIP1	67739283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.823000	0.99369	2.613000	0.88420	0.655000	0.94253	CCT		0.383	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			28	125	0	0	0	0.693898	0	28	125				
GXYLT1	283464	broad.mit.edu	37	12	42512903	42512903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:42512903C>G	ENST00000398675.3	-	3	617	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	GXYLT1_ENST00000280876.6_Missense_Mutation_p.E98Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	129					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTCATAGTTTCTTCCAGTCTT	0.378																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(385-387)Gaa>Caa		glucoside xylosyltransferase 1							100.0	92.0	94.0					12																	42512903		1921	4131	6052	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42512903C>G	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.385G>C	12.37:g.42512903C>G	ENSP00000381666:p.Glu129Gln					GXYLT1_ENST00000280876.6_Missense_Mutation_p.E98Q	p.E129Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			3	617	-			129					B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.385G>C	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807399	0.90623	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.21543	2.0;2.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.71581	2.175	0.80722	D	1	D;D	0.60575	0.985;0.988	D;D	0.67382	0.918;0.951	T	0.35773	-0.9775	10	0.49607	T	0.09	.	19.4065	0.94649	0.0:1.0:0.0:0.0	.	98;129	Q4G148-2;Q4G148	.;GXLT1_HUMAN	Q	129;98	ENSP00000381666:E129Q;ENSP00000280876:E98Q	ENSP00000280876:E98Q	E	-	1	0	GXYLT1	40799170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.414000	0.80117	2.595000	0.87683	0.591000	0.81541	GAA		0.378	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		17	81	0	0	0	0.520397	0	17	81				
CLIP1	6249	broad.mit.edu	37	12	122862371	122862371	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:122862371G>C	ENST00000540338.1	-	2	263	c.222C>G	c.(220-222)atC>atG	p.I74M	CLIP1_ENST00000302528.7_Missense_Mutation_p.I74M|CLIP1_ENST00000358808.2_Missense_Mutation_p.I74M|CLIP1_ENST00000361654.4_Missense_Mutation_p.I74M|CLIP1_ENST00000537178.1_Missense_Mutation_p.I74M			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	74					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)		CAAGAAACTGGATAAATCCAG	0.483																																						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.(220-222)atC>atG		CAP-GLY domain containing linker protein 1							129.0	133.0	131.0					12																	122862371		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862371G>C		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.222C>G	12.37:g.122862371G>C	ENSP00000439093:p.Ile74Met					CLIP1_ENST00000302528.7_Missense_Mutation_p.I74M|CLIP1_ENST00000361654.4_Missense_Mutation_p.I74M|CLIP1_ENST00000540338.1_Missense_Mutation_p.I74M|CLIP1_ENST00000537178.1_Missense_Mutation_p.I74M	p.I74M	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)	3	376	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		74					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.222C>G	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039033	0.55003	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004;ENST00000535290;ENST00000539080	T;T;T;T;T;T;D;T	0.93604	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-3.25;0.3	5.68	2.85	0.33270	Cytoskeleton-associated protein, Gly-rich domain (3);	0.046530	0.85682	D	0.000000	D	0.97259	0.9104	H	0.97491	4.015	0.58432	D	0.999995	D;D;D;D	0.58268	0.982;0.981;0.981;0.969	D;D;D;D	0.81914	0.989;0.995;0.995;0.99	D	0.94944	0.8094	10	0.87932	D	0	-15.3478	5.5334	0.16997	0.271:0.0:0.6004:0.1287	.	74;74;74;74	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	M	74	ENSP00000303585:I74M;ENSP00000351665:I74M;ENSP00000445531:I74M;ENSP00000439093:I74M;ENSP00000437786:I74M;ENSP00000441409:I74M;ENSP00000439472:I74M;ENSP00000445387:I74M	ENSP00000303585:I74M	I	-	3	3	CLIP1	121428324	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.289000	0.18957	0.325000	0.23359	0.491000	0.48974	ATC		0.483	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		124	53	0	0	0	0.870114	0	124	53				
C2orf16	84226	broad.mit.edu	37	2	27804812	27804812	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:27804812C>T	ENST00000408964.2	+	1	5424	c.5373C>T	c.(5371-5373)caC>caT	p.H1791H	ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1791	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAAGCCATCACAGTCCCTCTG	0.542																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5371-5373)caC>caT		chromosome 2 open reading frame 16							167.0	170.0	169.0					2																	27804812		1928	4133	6061	SO:0001819	synonymous_variant	84226							g.chr2:27804812C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5373C>T	2.37:g.27804812C>T						AC074091.1_ENST00000408604.1_RNA	p.H1791H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5424	+	Acute lymphoblastic leukemia(172;0.155)		1791			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5373C>T	CCDS42666.1																																																																																				0.542	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		27	150	0	0	0	0.693898	0	27	150				
PLPPR4	9890	broad.mit.edu	37	1	99772407	99772407	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:99772407C>T	ENST00000370185.3	+	7	2630	c.2133C>T	c.(2131-2133)agC>agT	p.S711S	LPPR4_ENST00000370184.1_Silent_p.S553S|LPPR4_ENST00000457765.1_Silent_p.S653S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		711					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.S711R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAGAGGGCAGCGAAATTGGCT	0.522																																						ENST00000370185.3																			2	Substitution - Missense(2)	p.S711R(2)	lung(2)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(2131-2133)agC>agT									66.0	59.0	62.0					1																	99772407		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99772407C>T																												ENST00000370185.3:c.2133C>T	1.37:g.99772407C>T						LPPR4_ENST00000457765.1_Silent_p.S653S|LPPR4_ENST00000370184.1_Silent_p.S553S	p.S711S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2630	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	711					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.2133C>T	CCDS757.1																																																																																				0.522	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			6	28	0	0	0	0.217242	0	6	28				
PRICKLE1	144165	broad.mit.edu	37	12	42864075	42864075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:42864075C>A	ENST00000455697.1	-	3	504	c.219G>T	c.(217-219)ttG>ttT	p.L73F	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L73F|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L73F|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L73F	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	73	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTAACTGGTACAAAAGCTGTT	0.398																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(217-219)ttG>ttT		prickle homolog 1 (Drosophila)							120.0	109.0	113.0					12																	42864075		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42864075C>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.219G>T	12.37:g.42864075C>A	ENSP00000401060:p.Leu73Phe					PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L73F|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L73F|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L73F	p.L73F	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	3	504	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		73			PET.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.219G>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589954	0.66105	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108;ENST00000551050;ENST00000547113	D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.38	4.49	0.54785	PET domain (2);	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	M	0.88031	2.925	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93708	0.7021	10	0.66056	D	0.02	-13.6204	10.3814	0.44115	0.0:0.7497:0.1725:0.0778	.	73	Q96MT3	PRIC1_HUMAN	F	73	ENSP00000401060:L73F;ENSP00000398947:L73F;ENSP00000448359:L73F;ENSP00000345064:L73F;ENSP00000449819:L73F;ENSP00000447870:L73F;ENSP00000446970:L73F;ENSP00000446699:L73F	ENSP00000345064:L73F	L	-	3	2	PRICKLE1	41150342	0.967000	0.33354	1.000000	0.80357	0.991000	0.79684	0.113000	0.15499	1.424000	0.47217	0.556000	0.70494	TTG		0.398	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			9	47	1	0	0.000274275	0.307466	0.000300757	9	47				
CYP4X1	260293	broad.mit.edu	37	1	47515807	47515807	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:47515807T>G	ENST00000371901.3	+	12	1741	c.1491T>G	c.(1489-1491)aaT>aaG	p.N497K	CYP4X1_ENST00000538609.1_Missense_Mutation_p.N496K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	497						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGCCCAAGAATGGGATGTATT	0.408																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1489-1491)aaT>aaG		cytochrome P450, family 4, subfamily X, polypeptide 1							120.0	116.0	118.0					1																	47515807		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47515807T>G	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1491T>G	1.37:g.47515807T>G	ENSP00000360968:p.Asn497Lys					CYP4X1_ENST00000538609.1_Missense_Mutation_p.N496K	p.N497K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			12	1741	+			497					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1491T>G	CCDS544.1	.	.	.	.	.	.	.	.	.	.	t	11.14	1.551749	0.27739	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.66638	-0.22;-0.22	5.4	1.76	0.24704	.	0.194545	0.53938	N	0.000052	T	0.54951	0.1890	L	0.46741	1.465	0.40654	D	0.98206	B;B	0.27068	0.167;0.089	B;B	0.30572	0.117;0.071	T	0.52997	-0.8500	10	0.87932	D	0	.	4.7353	0.12984	0.0:0.2343:0.1548:0.611	.	497;496	Q8N118;G3V1U1	CP4X1_HUMAN;.	K	496;497	ENSP00000445965:N496K;ENSP00000360968:N497K	ENSP00000360968:N497K	N	+	3	2	CYP4X1	47288394	0.998000	0.40836	0.997000	0.53966	0.252000	0.25951	0.358000	0.20216	0.421000	0.25980	0.383000	0.25322	AAT		0.408	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		19	116	0	0	0	0.557998	0	19	116				
CSMD1	64478	broad.mit.edu	37	8	2820154	2820154	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:2820154G>A	ENST00000520002.1	-	62	10020	c.9465C>T	c.(9463-9465)ttC>ttT	p.F3155F	CSMD1_ENST00000602557.1_Silent_p.F3155F|CSMD1_ENST00000537824.1_Silent_p.F3154F|CSMD1_ENST00000602723.1_Silent_p.F2978F|CSMD1_ENST00000400186.3_Silent_p.F2978F|CSMD1_ENST00000542608.1_Silent_p.F2977F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3155	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTCTCCGCAGAACACAGCTA	0.463																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(9463-9465)ttC>ttT		CUB and Sushi multiple domains 1							31.0	32.0	32.0					8																	2820154		1917	4122	6039	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2820154G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9465C>T	8.37:g.2820154G>A						CSMD1_ENST00000602723.1_Silent_p.F2978F|CSMD1_ENST00000400186.3_Silent_p.F2978F|CSMD1_ENST00000542608.1_Silent_p.F2977F|CSMD1_ENST00000537824.1_Silent_p.F3154F|CSMD1_ENST00000520002.1_Silent_p.F3155F	p.F3155F			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	62	10020	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3155			Sushi 26.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9465C>T																																																																																					0.463	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	14	0	0	0	0.115264	0	3	14				
C7orf25	79020	broad.mit.edu	37	7	42949873	42949873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:42949873C>G	ENST00000350427.4	-	2	902	c.627G>C	c.(625-627)gaG>gaC	p.E209D	C7orf25_ENST00000431882.2_Missense_Mutation_p.E267D|C7orf25_ENST00000447342.1_Missense_Mutation_p.E209D|C7orf25_ENST00000438029.1_Missense_Mutation_p.E209D|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	209										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTGATTCACTCTCACTTGGTT	0.458																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(625-627)gaG>gaC		chromosome 7 open reading frame 25							71.0	68.0	69.0					7																	42949873		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949873C>G	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.627G>C	7.37:g.42949873C>G	ENSP00000343364:p.Glu209Asp					C7orf25_ENST00000438029.1_Missense_Mutation_p.E209D|C7orf25_ENST00000431882.2_Missense_Mutation_p.E267D|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.E209D	p.E209D			Q9BPX7	CG025_HUMAN			2	902	-			209					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.627G>C	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	0.776	-0.764033	0.02996	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.65	0.226	0.15353	.	0.485072	0.22716	N	0.056510	T	0.14098	0.0341	N	0.05351	-0.065	0.23616	N	0.997286	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10497	-1.0627	10	0.10902	T	0.67	2.2724	0.3355	0.00325	0.21:0.2618:0.2043:0.3239	.	267;209	B4DQM3;Q9BPX7	.;CG025_HUMAN	D	209;209;267;209	ENSP00000343364:E209D;ENSP00000413029:E209D;ENSP00000416290:E267D;ENSP00000396597:E209D	ENSP00000343364:E209D	E	-	3	2	C7orf25	42916398	0.996000	0.38824	0.999000	0.59377	0.679000	0.39708	0.386000	0.20702	0.348000	0.23949	0.556000	0.70494	GAG		0.458	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		27	25	0	0	0	0.693898	0	27	25				
OCA2	4948	broad.mit.edu	37	15	28326955	28326955	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:28326955C>T	ENST00000354638.3	-	2	221	c.66G>A	c.(64-66)acG>acA	p.T22T	OCA2_ENST00000353809.5_Silent_p.T22T|OCA2_ENST00000382996.2_Silent_p.T22T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	22					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGGCACGGACGTCTGCAGGA	0.701									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(64-66)acG>acA		oculocutaneous albinism II							13.0	15.0	14.0					15																	28326955		2194	4288	6482	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28326955C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.66G>A	15.37:g.28326955C>T						OCA2_ENST00000353809.5_Silent_p.T22T|OCA2_ENST00000382996.2_Silent_p.T22T	p.T22T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	2	221	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	22					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.66G>A	CCDS10020.1																																																																																				0.701	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		17	9	0	0	0	0.520397	0	17	9				
CEP112	201134	broad.mit.edu	37	17	63898393	63898393	+	Silent	SNP	G	G	A	rs140758713		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:63898393G>A	ENST00000392769.2	-	20	2258	c.2040C>T	c.(2038-2040)aaC>aaT	p.N680N	CEP112_ENST00000535342.2_Silent_p.N680N|CEP112_ENST00000537949.1_Silent_p.N638N|CEP112_ENST00000541355.1_Silent_p.N315N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	680					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CCTTCTCTGCGTTATGCTGCT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		14943	0.001		0.0	False		,,,				2504	0.0					ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2038-2040)aaC>aaT		centrosomal protein 112kDa		G	,	1,4405	2.1+/-5.4	0,1,2202	215.0	171.0	186.0		2040,2040	3.5	1.0	17	dbSNP_134	186	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CEP112	NM_001199165.1,NM_145036.3	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	680/956,680/956	63898393	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:63898393G>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2040C>T	17.37:g.63898393G>A						CEP112_ENST00000535342.2_Silent_p.N680N|CEP112_ENST00000541355.1_Silent_p.N315N|CEP112_ENST00000537949.1_Silent_p.N638N	p.N680N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			20	2258	-			680					Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.2040C>T	CCDS32710.1																																																																																				0.463	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		22	35	0	0	0	0.639603	0	22	35				
SNHG14	104472715	broad.mit.edu	37	15	25325297	25325297	+	RNA	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:25325297G>A	ENST00000546682.1	+	0	0				SNHG14_ENST00000549804.2_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-13_ENST00000384408.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-15_ENST00000384445.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTGGATCGATGATGACTTCCA	0.428																																						ENST00000549804.2																			0																				230.0	207.0	214.0					15																	25325297		876	1991	2867			104472715							g.chr15:25325297G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25325297G>A						SNORD116-14_ENST00000383894.1_RNA								0	1377	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.428	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			46	48	0	0	0	0.870114	0	46	48				
SUPT6H	6830	broad.mit.edu	37	17	27031231	27031231	+	IGR	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:27031231C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_Splice_Site|PROCA1_ENST00000301039.2_Splice_Site|PROCA1_ENST00000581289.1_Splice_Site|PROCA1_ENST00000439862.3_Splice_Site	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCTTTTGCACCTGGGAGAAGG	0.572																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.e4-1		protein interacting with cyclin A1							44.0	49.0	47.0					17																	27031231		2193	4294	6487	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031231C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031231C>T						PROCA1_ENST00000581289.1_Splice_Site|PROCA1_ENST00000439862.3_Splice_Site|PROCA1_ENST00000579650.1_Splice_Site		NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			4	550	-	Lung NSC(42;0.00431)							A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Splice_Site	SNP	ENST00000314616.6	37		CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609079	0.46527	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	.	.	.	5.29	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4606	0.38783	0.0:0.9026:0.0:0.0974	.	.	.	.	.	-1	.	.	.	-	.	.	PROCA1	24055358	1.000000	0.71417	0.985000	0.45067	0.611000	0.37282	4.743000	0.62110	1.201000	0.43203	0.655000	0.94253	.		0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		20	79	0	0	0	0.608945	0	20	79				
CUL3	8452	broad.mit.edu	37	2	225400286	225400286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:225400286G>A	ENST00000264414.4	-	3	675	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q47*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	113					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATAGCTGTTTGATGATCATTC	0.333																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(337-339)Caa>Taa		cullin 3							185.0	164.0	172.0					2																	225400286		2203	4298	6501	SO:0001587	stop_gained	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225400286G>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.337C>T	2.37:g.225400286G>A	ENSP00000264414:p.Gln113*					CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q47*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q89*	p.Q113*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	675	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	113					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	37	c.337C>T	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.067359|6.067359	0.97251|0.97251	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777|ENST00000436172	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.054126|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80132	.|0.4567	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77480	.|-0.2572	.|3	0.02654|.	T|.	1|.	.|.	20.0728|20.0728	0.97731|0.97731	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	113;47;89;89|133	.|.	ENSP00000264414:Q113X|.	Q|S	-|-	1|2	0|0	CUL3|CUL3	225108530|225108530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.676000|0.676000	0.39594|0.39594	9.334000|9.334000	0.96470|0.96470	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.333	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			20	8	0	0	0	0.592651	0	20	8				
CALCR	799	broad.mit.edu	37	7	93106945	93106945	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:93106945A>G	ENST00000394441.1	-	4	556	c.241T>C	c.(241-243)Tgc>Cgc	p.C81R	CALCR_ENST00000421592.1_Missense_Mutation_p.C81R|CALCR_ENST00000426151.1_Missense_Mutation_p.C81R|CALCR_ENST00000360249.4_Missense_Mutation_p.C81R|CALCR_ENST00000359558.2_Missense_Mutation_p.C99R	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	99					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TCATCCCAGCACAGCCATCCA	0.418																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(295-297)Tgc>Cgc		calcitonin receptor	Salmon Calcitonin(DB00017)						94.0	79.0	84.0					7																	93106945		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93106945A>G	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.241T>C	7.37:g.93106945A>G	ENSP00000377959:p.Cys81Arg					CALCR_ENST00000421592.1_Missense_Mutation_p.C81R|CALCR_ENST00000426151.1_Missense_Mutation_p.C81R|CALCR_ENST00000394441.1_Missense_Mutation_p.C81R|CALCR_ENST00000360249.4_Missense_Mutation_p.C81R	p.C99R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		6	594	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		81					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.295T>C	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928968	0.73327	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	4.06	4.06	0.47325	.	.	.	.	.	D	0.89529	0.6741	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92769	0.6230	9	0.72032	D	0.01	.	12.9474	0.58379	1.0:0.0:0.0:0.0	.	99;81	F5H605;A4D1G6	.;.	R	99;81;81;81;81;81	ENSP00000352561:C99R;ENSP00000353385:C81R;ENSP00000399552:C81R;ENSP00000377959:C81R;ENSP00000389295:C81R	ENSP00000352561:C99R	C	-	1	0	CALCR	92944881	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	8.517000	0.90555	2.057000	0.61298	0.455000	0.32223	TGC		0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		16	27	0	0	0	0.575678	0	16	27				
TUBA4A	7277	broad.mit.edu	37	2	220115525	220115525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:220115525G>A	ENST00000248437.4	-	4	1069	c.896C>T	c.(895-897)gCc>gTc	p.A299V	TUBA4A_ENST00000392088.2_Missense_Mutation_p.A284V|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	299					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	CATCTGGTTGGCAGGCTCAAA	0.572																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(850-852)gCc>gTc		tubulin, alpha 4a							113.0	104.0	107.0					2																	220115525		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115525G>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.896C>T	2.37:g.220115525G>A	ENSP00000248437:p.Ala299Val					TUBA4A_ENST00000248437.4_Missense_Mutation_p.A299V|TUBA4A_ENST00000498660.1_5'UTR	p.A284V	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1406	-		Renal(207;0.0474)	299					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.851C>T	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526807	0.44969	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	D;D;D	0.81579	-1.51;-1.51;-1.51	5.26	5.26	0.73747	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.065541	0.64402	D	0.000016	D	0.83839	0.5341	M	0.85630	2.765	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.81703	-0.0812	10	0.66056	D	0.02	.	19.0611	0.93093	0.0:0.0:1.0:0.0	.	299	P68366	TBA4A_HUMAN	V	299;284;146	ENSP00000248437:A299V;ENSP00000375938:A284V;ENSP00000396212:A146V	ENSP00000248437:A299V	A	-	2	0	TUBA4A	219823769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.243000	0.72384	2.735000	0.93741	0.655000	0.94253	GCC		0.572	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		18	83	0	0	0	0.539581	0	18	83				
MACF1	23499	broad.mit.edu	37	1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T	rs573837366		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:39833905C>T	ENST00000372915.3	+	49	12959	c.12872C>T	c.(12871-12873)gCg>gTg	p.A4291V	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.A2726V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4323V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2224V|MACF1_ENST00000564288.1_Missense_Mutation_p.A4286V|MACF1_ENST00000539005.1_Missense_Mutation_p.A2224V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2224V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2224V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4291					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		16572	0.001		0.0	False		,,,				2504	0.0					ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12856-12858)gCg>gTg		microtubule-actin crosslinking factor 1							119.0	113.0	115.0					1																	39833905		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39833905C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12872C>T	1.37:g.39833905C>T	ENSP00000362006:p.Ala4291Val					MACF1_ENST00000317713.7_Missense_Mutation_p.A2224V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.A2726V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2224V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4323V|MACF1_ENST00000372915.3_Missense_Mutation_p.A4291V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2224V|MACF1_ENST00000539005.1_Missense_Mutation_p.A2224V	p.A4286V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		50	13634	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4291					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12857C>T		.	.	.	.	.	.	.	.	.	.	C	14.65	2.598307	0.46318	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.61392	0.14;0.19;0.14;0.11;0.33;1.25	5.85	5.85	0.93711	.	0.485335	0.18855	N	0.129285	T	0.39682	0.1087	N	0.16478	0.41	0.80722	D	1	P;B;B;B	0.47191	0.891;0.09;0.009;0.005	B;B;B;B	0.37508	0.252;0.036;0.004;0.008	T	0.26643	-1.0097	10	0.22109	T	0.4	.	15.3264	0.74168	0.0:0.9314:0.0:0.0686	.	4291;2224;2224;2189	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	V	2224;4291;2224;2224;2224;2726	ENSP00000439537:A2224V;ENSP00000362006:A4291V;ENSP00000354573:A2224V;ENSP00000313438:A2224V;ENSP00000444364:A2224V;ENSP00000289893:A2726V	ENSP00000289893:A2726V	A	+	2	0	MACF1	39606492	0.361000	0.24972	0.946000	0.38457	0.799000	0.45148	0.880000	0.28159	2.775000	0.95449	0.467000	0.42956	GCG		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		31	48	0	0	0	0.779181	0	31	48				
KLHDC7B	113730	broad.mit.edu	37	22	50987418	50987418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr22:50987418C>T	ENST00000395676.2	+	1	957	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	275										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCAGCCTGCGGACCGGCCG	0.746																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(823-825)Cgg>Tgg		kelch domain containing 7B							6.0	7.0	7.0					22																	50987418		1779	3431	5210	SO:0001583	missense	113730							g.chr22:50987418C>T	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.823C>T	22.37:g.50987418C>T	ENSP00000379034:p.Arg275Trp						p.R275W	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	957	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	275						Missense_Mutation	SNP	ENST00000395676.2	37	c.823C>T	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724335	0.48728	.	.	ENSG00000130487	ENST00000395676	D	0.91843	-2.92	4.6	3.55	0.40652	.	0.000000	0.33534	U	0.004815	D	0.95465	0.8527	M	0.80982	2.52	0.30721	N	0.748233	D	0.89917	1.0	D	0.97110	1.0	D	0.93328	0.6698	10	0.87932	D	0	.	11.638	0.51215	0.1795:0.8205:0.0:0.0	.	275	Q96G42	KLD7B_HUMAN	W	275	ENSP00000379034:R275W	ENSP00000379034:R275W	R	+	1	2	KLHDC7B	49334284	0.768000	0.28519	0.632000	0.29296	0.078000	0.17371	2.394000	0.44450	0.907000	0.36646	0.306000	0.20318	CGG		0.746	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		10	5	0	0	0	0.361761	0	10	5				
MAGEA6	4105	broad.mit.edu	37	X	151869581	151869581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chrX:151869581G>A	ENST00000329342.5	+	3	496	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	91										breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAACCAAGAAGAGGAGGG	0.557																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(271-273)Gaa>Aaa		melanoma antigen family A, 6							64.0	62.0	63.0					X																	151869581		2201	4298	6499	SO:0001583	missense	4105						protein binding	g.chrX:151869581G>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.271G>A	X.37:g.151869581G>A	ENSP00000329199:p.Glu91Lys						p.E91K	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	496	+	Acute lymphoblastic leukemia(192;6.56e-05)		91					A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.271G>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	5.461	0.270082	0.10349	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.04360	3.64;3.64;3.64	0.605	-0.359	0.12571	Melanoma associated antigen, MAGE, N-terminal (1);	1.628260	0.02941	N	0.140505	T	0.08179	0.0204	M	0.63428	1.95	0.09310	N	1	B	0.25719	0.132	B	0.32393	0.145	T	0.40059	-0.9583	9	0.39692	T	0.17	.	.	.	.	.	91	P43360	MAGA6_HUMAN	K	91	ENSP00000329199:E91K;ENSP00000403303:E91K;ENSP00000401806:E91K	ENSP00000329199:E91K	E	+	1	0	MAGEA6	151620237	0.001000	0.12720	0.016000	0.15963	0.012000	0.07955	0.005000	0.13129	-0.212000	0.10109	-1.089000	0.02181	GAA		0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		14	27	0	0	0	0.457914	0	14	27				
RASGRF1	5923	broad.mit.edu	37	15	79294032	79294032	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:79294032G>T	ENST00000419573.3	-	17	2869	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P	RASGRF1_ENST00000394745.3_Silent_p.P81P|RASGRF1_ENST00000558480.2_Silent_p.P849P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	865					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGACTGATTTGGGTGTTGTTG	0.408																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2593-2595)ccC>ccA		Ras protein-specific guanine nucleotide-releasing factor 1							266.0	241.0	249.0					15																	79294032		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79294032G>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2595C>A	15.37:g.79294032G>T						RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P849P|RASGRF1_ENST00000394745.3_Silent_p.P81P	p.P865P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			17	2869	-			867					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2595C>A	CCDS10309.1																																																																																				0.408	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		24	93	1	0	2.48779e-11	0.693898	3.13936e-11	24	93				
CCT7	10574	broad.mit.edu	37	2	73470213	73470213	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:73470213C>T	ENST00000258091.5	+	4	490	c.349C>T	c.(349-351)Cac>Tac	p.H117Y	CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_Missense_Mutation_p.H17Y|CCT7_ENST00000540468.1_Missense_Mutation_p.H30Y|CCT7_ENST00000539919.1_Missense_Mutation_p.H73Y|CCT7_ENST00000538797.1_Silent_p.Y6Y	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	117					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGAAGGTTTACACCCCCAGAT	0.517																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(217-219)Cac>Tac		chaperonin containing TCP1, subunit 7 (eta)							105.0	102.0	103.0					2																	73470213		1965	4142	6107	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73470213C>T	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.349C>T	2.37:g.73470213C>T	ENSP00000258091:p.His117Tyr					CCT7_ENST00000258091.5_Missense_Mutation_p.H117Y|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.H30Y|CCT7_ENST00000538797.1_Silent_p.Y6Y|CCT7_ENST00000537131.1_Missense_Mutation_p.H17Y	p.H73Y	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			5	588	+			117					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.217C>T	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926302	0.92319	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000399032;ENST00000537131	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	4.95	4.95	0.65309	.	0.047096	0.85682	D	0.000000	D	0.92293	0.7555	H	0.96015	3.755	0.80722	D	1	P;D;B	0.65815	0.925;0.995;0.045	P;D;B	0.63957	0.517;0.92;0.075	D	0.94321	0.7553	10	0.87932	D	0	-7.6551	16.0791	0.80989	0.0:1.0:0.0:0.0	.	30;17;117	B7Z4Z7;F5GZK5;Q99832	.;.;TCPH_HUMAN	Y	30;73;117;73;17	ENSP00000442058:H30Y;ENSP00000437824:H73Y;ENSP00000258091:H117Y;ENSP00000412996:H73Y;ENSP00000444379:H17Y	ENSP00000258091:H117Y	H	+	1	0	CCT7	73323721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.580000	0.82523	2.737000	0.93849	0.563000	0.77884	CAC		0.517	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			6	74	0	0	0	0.217242	0	6	74				
TRBV24-1	28563	broad.mit.edu	37	7	142364532	142364532	+	RNA	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:142364532A>G	ENST00000390397.2	+	0	203									T cell receptor beta variable 24-1																		TGGTATCGACAAGACCCAGGA	0.443																																						ENST00000390397.2																			0																				68.0	65.0	66.0					7																	142364532		1869	4118	5987			28563							g.chr7:142364532A>G	M11951		7q34	2012-02-07			ENSG00000211750	ENSG00000211750		"""T cell receptors / TRB locus"""	12203	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV241, TCRBV15S1, TCRBV24S1			OTTHUMG00000158889		7.37:g.142364532A>G														0	203	+									RNA	SNP	ENST00000390397.2	37																																																																																						0.443	TRBV24-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352499.1	NG_001333		8	20	0	0	0	0.278610	0	8	20				
TNRC6C	57690	broad.mit.edu	37	17	76089205	76089205	+	Splice_Site	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:76089205G>C	ENST00000588061.1	+	17	4889	c.4162G>C	c.(4162-4164)Gaa>Caa	p.E1388Q	TNRC6C_ENST00000544502.1_Splice_Site_p.E1385Q|TNRC6C_ENST00000335749.4_Splice_Site_p.E1385Q|TNRC6C_ENST00000541771.1_Splice_Site_p.E1388Q|TNRC6C_ENST00000588847.1_Splice_Site_p.E1385Q|TNRC6C_ENST00000301624.4_Splice_Site_p.E1388Q			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1388	PABPC1-interacting motif-2 (PAM2).|Required for interaction with PABPC1.|Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGGCCCCCAGGTAAGACCAT	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.e15+1		trinucleotide repeat containing 6C							49.0	46.0	47.0					17																	76089205		2008	4182	6190	SO:0001630	splice_region_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76089205G>C	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4162+1G>C	17.37:g.76089205G>C						TNRC6C_ENST00000588061.1_Splice_Site_p.E1388_splice|TNRC6C_ENST00000301624.4_Splice_Site_p.E1388_splice|TNRC6C_ENST00000588847.1_Splice_Site_p.E1385_splice|TNRC6C_ENST00000541771.1_Splice_Site_p.E1388_splice|TNRC6C_ENST00000544502.1_Splice_Site_p.E1385_splice	p.E1385_splice	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		15	4722	+			1388			Sufficient for translational repression when tethered to a target mRNA.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Splice_Site	SNP	ENST00000588061.1	37	c.4153_splice	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266055	0.95399	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.45668	0.92;0.89;0.89;0.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.72714	-0.4210	10	0.87932	D	0	-18.5752	20.4062	0.99009	0.0:0.0:1.0:0.0	.	1385;1388	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	Q	1388;1385;1385;1388;1388;1385	ENSP00000336783:E1385Q;ENSP00000301624:E1388Q;ENSP00000440310:E1388Q;ENSP00000442421:E1385Q	ENSP00000301624:E1388Q	E	+	1	0	TNRC6C	73600800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.338000	0.96553	2.831000	0.97527	0.655000	0.94253	GAA		0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	Missense_Mutation	10	13	0	0	0	0.361761	0	10	13				
VAPA	9218	broad.mit.edu	37	18	9944946	9944946	+	Intron	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr18:9944946C>T	ENST00000400000.2	+	5	672				VAPA_ENST00000340541.4_Missense_Mutation_p.P148L|VAPA_ENST00000584796.1_Intron	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa						cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						GGGAATGCTCCGACTGTCACT	0.473																																						ENST00000340541.4																			0				breast(1)|lung(2)|prostate(1)	4						c.(442-444)cCg>cTg		VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa							106.0	97.0	100.0					18																	9944946		1996	4178	6174	SO:0001627	intron_variant	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9944946C>T		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.418-5446C>T	18.37:g.9944946C>T						VAPA_ENST00000584796.1_Intron|VAPA_ENST00000400000.2_Intron	p.P148L			Q9P0L0	VAPA_HUMAN			5	638	+			139					A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	ENST00000400000.2	37	c.443C>T	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735394	0.30774	.	.	ENSG00000101558	ENST00000340541	T	0.57436	0.4	5.24	3.42	0.39159	.	1.160920	0.06480	N	0.732744	T	0.37128	0.0992	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24476	-1.0159	8	.	.	.	0.6682	7.5182	0.27612	0.0:0.7199:0.0:0.2801	.	148	Q9P0L0-2	.	L	148	ENSP00000345656:P148L	.	P	+	2	0	VAPA	9934946	0.002000	0.14202	0.012000	0.15200	0.990000	0.78478	0.901000	0.28445	0.837000	0.34925	0.585000	0.79938	CCG		0.473	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			15	27	0	0	0	0.457914	0	15	27				
ANKS6	203286	broad.mit.edu	37	9	101552738	101552738	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr9:101552738C>A	ENST00000353234.4	-	2	557	c.510G>T	c.(508-510)gtG>gtT	p.V170V	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.V170V			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	170						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGTGATGGTCCACAAAGGCAC	0.652																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(508-510)gtG>gtT		ankyrin repeat and sterile alpha motif domain containing 6							25.0	32.0	30.0					9																	101552738		2057	4205	6262	SO:0001819	synonymous_variant	203286							g.chr9:101552738C>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.510G>T	9.37:g.101552738C>A						ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.V170V|ANKS6_ENST00000375019.2_Intron	p.V170V			Q68DC2	ANKS6_HUMAN			2	557	-		Acute lymphoblastic leukemia(62;0.0527)	170					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.510G>T	CCDS43856.1																																																																																				0.652	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		8	11	1	0	0.00307968	0.278610	0.00328637	8	11				
SLC25A3	5250	broad.mit.edu	37	12	98987764	98987764	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:98987764C>G	ENST00000228318.3	+	2	128	c.8C>G	c.(7-9)tCg>tGg	p.S3W	SLC25A3_ENST00000547534.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000401722.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000548847.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551265.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000549338.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551917.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000188376.5_Missense_Mutation_p.S3W|SLC25A3_ENST00000552981.1_Missense_Mutation_p.S3W	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	3					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AAGATGTTCTCGTCCGTGGCG	0.662																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(7-9)tCg>tGg		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							36.0	37.0	36.0					12																	98987764		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98987764C>G		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.8C>G	12.37:g.98987764C>G	ENSP00000228318:p.Ser3Trp					SLC25A3_ENST00000547534.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000228318.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000552981.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551265.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551917.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000401722.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000549338.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000548847.1_Missense_Mutation_p.S3W	p.S3W	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	1	362	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	3					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.8C>G	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812352	0.90707	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000548046;ENST00000552981;ENST00000551265;ENST00000550695;ENST00000547534;ENST00000549338;ENST00000548847	T;T;T;T;D;T;D;D;T;T	0.87179	-1.22;-1.22;-0.96;-0.96;-2.22;-1.22;-2.18;-1.82;-1.22;-1.26	4.65	4.65	0.58169	.	0.128156	0.53938	D	0.000060	D	0.93019	0.7778	M	0.79693	2.465	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	P;P;D	0.67725	0.902;0.898;0.953	D	0.94006	0.7280	10	0.87932	D	0	-2.3528	15.8864	0.79251	0.0:1.0:0.0:0.0	.	3;3;3	F8VVM2;Q00325;Q00325-2	.;MPCP_HUMAN;.	W	3	ENSP00000383898:S3W;ENSP00000188376:S3W;ENSP00000228318:S3W;ENSP00000447310:S3W;ENSP00000447339:S3W;ENSP00000448708:S3W;ENSP00000449479:S3W;ENSP00000449793:S3W;ENSP00000447740:S3W;ENSP00000449166:S3W	ENSP00000188376:S3W	S	+	2	0	SLC25A3	97511895	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.691000	0.68249	2.414000	0.81942	0.561000	0.74099	TCG		0.662	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		11	29	0	0	0	0.457914	0	11	29				
RNF213	57674	broad.mit.edu	37	17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:78351573G>A	ENST00000582970.1	+	54	13665	c.13522G>A	c.(13522-13524)Ggc>Agc	p.G4508S	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4508					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGTCCCAACGGCCATCCTTG	0.532																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13522-13524)Ggc>Agc		ring finger protein 213							315.0	266.0	282.0					17																	78351573		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78351573G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13522G>A	17.37:g.78351573G>A	ENSP00000464087:p.Gly4508Ser					CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA	p.G4508S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		54	13665	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13522G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113576	0.94339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.55413	0.52	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.75777	2.31	0.44587	D	0.997552	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	T	0.76154	-0.3063	10	0.72032	D	0.01	.	17.3883	0.87423	0.0:0.0:1.0:0.0	.	4557;2581	C9JCP4;Q63HN8	.;RN213_HUMAN	S	4508;4557;2581	ENSP00000338218:G2581S	ENSP00000338218:G2581S	G	+	1	0	RNF213	75966168	0.997000	0.39634	0.349000	0.25694	0.985000	0.73830	5.094000	0.64523	2.529000	0.85273	0.655000	0.94253	GGC		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		68	106	0	0	0	0.870114	0	68	106				
GRIN2B	2904	broad.mit.edu	37	12	13717063	13717063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:13717063C>T	ENST00000609686.1	-	13	3318	c.3109G>A	c.(3109-3111)Gac>Aac	p.D1037N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1037					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGTACAGGTCACTGAGCTGG	0.582																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3109-3111)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						80.0	64.0	70.0					12																	13717063		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717063C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3109G>A	12.37:g.13717063C>T	ENSP00000477455:p.Asp1037Asn						p.D1037N	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3318	-			1037					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3109G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227774	0.39399	.	.	ENSG00000150086	ENST00000279593	T	0.11169	2.8	5.57	5.57	0.84162	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.131197	0.50627	D	0.000118	T	0.09024	0.0223	N	0.16478	0.41	0.80722	D	1	B	0.17465	0.022	B	0.20184	0.028	T	0.33445	-0.9868	10	0.18710	T	0.47	.	19.555	0.95342	0.0:1.0:0.0:0.0	.	1037	Q13224	NMDE2_HUMAN	N	1037	ENSP00000279593:D1037N	ENSP00000279593:D1037N	D	-	1	0	GRIN2B	13608330	1.000000	0.71417	0.957000	0.39632	0.961000	0.63080	7.742000	0.85008	2.633000	0.89246	0.650000	0.86243	GAC		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			25	16	0	0	0	0.681144	0	25	16				
ZFP36L1	677	broad.mit.edu	37	14	69256533	69256533	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:69256533T>A	ENST00000439696.2	-	2	1035	c.734A>T	c.(733-735)gAt>gTt	p.D245V	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D245V|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	245					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGGTGCCATCGGGCAGGGT	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(733-735)gAt>gTt		ZFP36 ring finger protein-like 1							73.0	86.0	82.0					14																	69256533		2201	4300	6501	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256533T>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.734A>T	14.37:g.69256533T>A	ENSP00000388402:p.Asp245Val		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D245V|ZFP36L1_ENST00000555997.1_3'UTR	p.D245V	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1035	-			245					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.734A>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624992	0.66901	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.31769	1.48;1.48	4.64	4.64	0.57946	.	0.062950	0.64402	D	0.000010	T	0.48390	0.1497	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50145	-0.8862	10	0.72032	D	0.01	-8.6969	14.2145	0.65783	0.0:0.0:0.0:1.0	.	245	Q07352	TISB_HUMAN	V	245;245;228	ENSP00000388402:D245V;ENSP00000337386:D245V	ENSP00000337386:D245V	D	-	2	0	ZFP36L1	68326286	1.000000	0.71417	0.986000	0.45419	0.922000	0.55478	2.993000	0.49425	1.947000	0.56498	0.477000	0.44152	GAT		0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			80	111	0	0	0	0.870114	0	80	111				
PLCB3	5331	broad.mit.edu	37	11	64033990	64033990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:64033990G>C	ENST00000540288.1	+	29	3483	c.3380G>C	c.(3379-3381)cGg>cCg	p.R1127P	PLCB3_ENST00000325234.5_Missense_Mutation_p.R1060P|PLCB3_ENST00000279230.6_Missense_Mutation_p.R1127P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1127					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ATTAACCGTCGGCACATCACT	0.637																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(3379-3381)cGg>cCg		phospholipase C, beta 3 (phosphatidylinositol-specific)							115.0	103.0	107.0					11																	64033990		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033990G>C	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3380G>C	11.37:g.64033990G>C	ENSP00000443631:p.Arg1127Pro					PLCB3_ENST00000325234.5_Missense_Mutation_p.R1060P|PLCB3_ENST00000279230.6_Missense_Mutation_p.R1127P	p.R1127P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			29	3483	+			1127					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.3380G>C	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018474	0.75275	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.48836	0.8;0.8;0.8	4.83	3.89	0.44902	PLC-beta, C-terminal (1);	0.506167	0.20843	N	0.084675	T	0.57858	0.2082	L	0.44542	1.39	0.24444	N	0.994517	D;D	0.89917	1.0;0.992	D;P	0.68943	0.961;0.892	T	0.48647	-0.9017	10	0.72032	D	0.01	.	12.4686	0.55773	0.0852:0.0:0.9148:0.0	.	1060;1127	G5E960;Q01970	.;PLCB3_HUMAN	P	1127;1127;1060	ENSP00000279230:R1127P;ENSP00000443631:R1127P;ENSP00000324660:R1060P	ENSP00000279230:R1127P	R	+	2	0	PLCB3	63790566	0.856000	0.29760	0.971000	0.41717	0.982000	0.71751	3.570000	0.53834	2.523000	0.85059	0.555000	0.69702	CGG		0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			7	42	0	0	0	0.278610	0	7	42				
KLF15	28999	broad.mit.edu	37	3	126071260	126071260	+	Missense_Mutation	SNP	G	G	A	rs368953798		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:126071260G>A	ENST00000296233.3	-	2	736	c.506C>T	c.(505-507)gCc>gTc	p.A169V	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	169					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTGGCTGCAGGCATCCAAGTC	0.612																																						ENST00000296233.3																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(505-507)gCc>gTc		Kruppel-like factor 15		G	VAL/ALA	0,4406		0,0,2203	46.0	50.0	49.0		506	2.4	0.5	3		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLF15	NM_014079.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	169/417	126071260	1,13005	2203	4300	6503	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071260G>A	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.506C>T	3.37:g.126071260G>A	ENSP00000296233:p.Ala169Val						p.A169V	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	736	-			169						Missense_Mutation	SNP	ENST00000296233.3	37	c.506C>T	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972203	0.18736	0.0	1.16E-4	ENSG00000163884	ENST00000296233	T	0.07327	3.2	4.25	2.4	0.29515	.	0.634782	0.16523	N	0.210718	T	0.06142	0.0159	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33292	-0.9874	10	0.30078	T	0.28	.	6.4398	0.21843	0.101:0.0:0.7134:0.1857	.	169	Q9UIH9	KLF15_HUMAN	V	169	ENSP00000296233:A169V	ENSP00000296233:A169V	A	-	2	0	KLF15	127553950	0.058000	0.20735	0.472000	0.27241	0.719000	0.41307	0.878000	0.28126	1.065000	0.40693	0.491000	0.48974	GCC		0.612	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		25	22	0	0	0	0.654019	0	25	22				
ANKRD26	22852	broad.mit.edu	37	10	27352931	27352931	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr10:27352931T>C	ENST00000376087.4	-	12	1514	c.1349A>G	c.(1348-1350)aAt>aGt	p.N450S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.N499S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	450					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGCTTGTTCATTTCCTATATT	0.323																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1348-1350)aAt>aGt		ankyrin repeat domain 26							93.0	82.0	85.0					10																	27352931		1790	4068	5858	SO:0001583	missense	22852					centrosome		g.chr10:27352931T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1349A>G	10.37:g.27352931T>C	ENSP00000365255:p.Asn450Ser					ANKRD26_ENST00000436985.2_Missense_Mutation_p.N499S	p.N450S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			12	1514	-			450					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.1349A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	6.088	0.384546	0.11524	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.32753	1.48;1.44	4.57	-2.63	0.06133	.	.	.	.	.	T	0.15739	0.0379	L	0.35341	1.055	0.09310	N	1	B;B;B	0.20671	0.047;0.028;0.028	B;B;B	0.15484	0.013;0.006;0.006	T	0.36016	-0.9765	9	0.08837	T	0.75	.	4.5899	0.12301	0.1469:0.3617:0.0:0.4915	.	450;450;499	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	S	450;499	ENSP00000365255:N450S;ENSP00000405112:N499S	ENSP00000365255:N450S	N	-	2	0	ANKRD26	27392937	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.271000	0.18626	-0.588000	0.05882	0.459000	0.35465	AAT		0.323	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			21	15	0	0	0	0.654019	0	21	15				
GPR27	2850	broad.mit.edu	37	3	71804252	71804252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:71804252C>T	ENST00000304411.2	+	1	1052	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V	EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	351					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGCTTCAGGGCCCAGTTCCCC	0.657																																						ENST00000304411.2																			0				kidney(1)|lung(2)|ovary(1)|prostate(1)	5						c.(1051-1053)gCc>gTc		G protein-coupled receptor 27							15.0	15.0	15.0					3																	71804252		2184	4274	6458	SO:0001583	missense	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804252C>T	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1052C>T	3.37:g.71804252C>T	ENSP00000303149:p.Ala351Val						p.A351V	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	1052	+		Prostate(10;0.00899)	351						Missense_Mutation	SNP	ENST00000304411.2	37	c.1052C>T	CCDS2915.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531038	0.85706	.	.	ENSG00000170837	ENST00000304411	T	0.37752	1.18	4.71	4.71	0.59529	.	0.000000	0.64402	U	0.000001	T	0.32071	0.0817	L	0.32530	0.975	0.58432	D	0.999999	D	0.53151	0.958	B	0.41894	0.369	T	0.23619	-1.0183	10	0.59425	D	0.04	-7.4047	17.7308	0.88377	0.0:1.0:0.0:0.0	.	351	Q9NS67	GPR27_HUMAN	V	351	ENSP00000303149:A351V	ENSP00000303149:A351V	A	+	2	0	GPR27	71886942	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.472000	0.80996	2.171000	0.68590	0.460000	0.39030	GCC		0.657	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		9	5	0	0	0	0.307466	0	9	5				
WNT3	7473	broad.mit.edu	37	17	44845973	44845973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:44845973C>G	ENST00000225512.5	-	4	943	c.781G>C	c.(781-783)Gcc>Ccc	p.A261P		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	261					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGTACTTGGCCCGGAGGGTC	0.592																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(781-783)Gcc>Ccc		wingless-type MMTV integration site family, member 3							87.0	92.0	90.0					17																	44845973		2203	4300	6503	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44845973C>G	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.781G>C	17.37:g.44845973C>G	ENSP00000225512:p.Ala261Pro						p.A261P	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	943	-			261					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.781G>C	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	7.852	0.724180	0.15439	.	.	ENSG00000108379	ENST00000225512	T	0.75821	-0.97	5.06	5.06	0.68205	.	0.538616	0.19755	N	0.106804	T	0.35856	0.0946	N	0.00119	-2.075	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.57312	-0.7833	10	0.02654	T	1	.	18.6237	0.91330	0.0:1.0:0.0:0.0	.	261	P56703	WNT3_HUMAN	P	261	ENSP00000225512:A261P	ENSP00000225512:A261P	A	-	1	0	WNT3	42201142	0.994000	0.37717	0.995000	0.50966	0.973000	0.67179	3.122000	0.50446	2.620000	0.88729	0.561000	0.74099	GCC		0.592	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		51	60	0	0	0	0.870114	0	51	60				
SSPO	23145	broad.mit.edu	37	7	149480698	149480698	+	RNA	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:149480698T>C	ENST00000378016.2	+	0	2404							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGTGCTGTCTGCCTATGC	0.637																																						ENST00000378016.2																			0													SCO-spondin							80.0	90.0	87.0					7																	149480698		2188	4271	6459			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149480698T>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149480698T>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2404	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				37	82	0	0	0	0.812448	0	37	82				
OR11L1	391189	broad.mit.edu	37	1	248004560	248004560	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:248004560C>A	ENST00000355784.2	-	1	694	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	213						extracellular vesicular exosome (GO:0070062)|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(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCCAGTGTCAGAAAAAAAC	0.507																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(637-639)ctG>ctT		olfactory receptor, family 11, subfamily L, member 1							82.0	85.0	84.0					1																	248004560		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004560C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.639G>T	1.37:g.248004560C>A							p.L213L	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	694	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		213						Silent	SNP	ENST00000355784.2	37	c.639G>T	CCDS31098.1																																																																																				0.507	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		28	39	1	0	1.16021e-09	0.717897	1.40819e-09	28	39				
MUC6	4588	broad.mit.edu	37	11	1016020	1016020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:1016020C>T	ENST00000421673.2	-	31	6831	c.6781G>A	c.(6781-6783)Gcc>Acc	p.A2261T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2261	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGCAGGGGCGGTGTGGGTG	0.627																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6781-6783)Gcc>Acc		mucin 6, oligomeric mucus/gel-forming							125.0	148.0	140.0					11																	1016020		2175	4259	6434	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016020C>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6781G>A	11.37:g.1016020C>T	ENSP00000406861:p.Ala2261Thr						p.A2261T	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6831	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2261			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6781G>A	CCDS44513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.465|1.465	-0.561399|-0.561399	0.03939|0.03939	.|.	.|.	ENSG00000184956|ENSG00000184956	ENST00000421673|ENST00000532016	T|.	0.18810|.	2.19|.	3.23|3.23	-5.08|-5.08	0.02929|0.02929	.|.	.|.	.|.	.|.	.|.	T|T	0.09468|0.09468	0.0233|0.0233	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.25117|0.25117	-1.0141|-1.0141	9|5	0.02654|.	T|.	1|.	.|.	0.3973|0.3973	0.00420|0.00420	0.281:0.1791:0.2896:0.2504|0.281:0.1791:0.2896:0.2504	.|.	2261|.	Q6W4X9|.	MUC6_HUMAN|.	T|H	2261|45	ENSP00000406861:A2261T|.	ENSP00000406861:A2261T|.	A|R	-|-	1|2	0|0	MUC6|MUC6	1006020|1006020	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.168000|-1.168000	0.03123|0.03123	-1.224000|-1.224000	0.02581|0.02581	-2.948000|-2.948000	0.00085|0.00085	GCC|CGC		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		37	162	0	0	0	0.840704	0	37	162				
ATAD5	79915	broad.mit.edu	37	17	29162894	29162894	+	Silent	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:29162894A>C	ENST00000321990.4	+	2	2173	c.1795A>C	c.(1795-1797)Aga>Cga	p.R599R	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	599					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGATCTGGAAGAATTAGCAG	0.398																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(1795-1797)Aga>Cga		ATPase family, AAA domain containing 5							93.0	86.0	88.0					17																	29162894		2203	4300	6503	SO:0001819	synonymous_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162894A>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1795A>C	17.37:g.29162894A>C						CTD-2349P21.11_ENST00000580873.1_RNA	p.R599R	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	2173	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	599					Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	c.1795A>C	CCDS11260.1																																																																																				0.398	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		24	87	0	0	0	0.693898	0	24	87				
PRB1	5542	broad.mit.edu	37	12	11508453	11508453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:11508453G>T	ENST00000500254.2	-	1	72	c.35C>A	c.(34-36)gCc>gAc	p.A12D	PRB1_ENST00000545626.1_Missense_Mutation_p.A12D|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGAGCTCAGGGCCAGCAAGGC	0.502																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(34-36)gCc>gAc		proline-rich protein BstNI subfamily 1							89.0	84.0	86.0					12																	11508453		2175	4274	6449	SO:0001583	missense	5542					extracellular region		g.chr12:11508453G>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.35C>A	12.37:g.11508453G>T	ENSP00000420826:p.Ala12Asp					PRB1_ENST00000545626.1_Missense_Mutation_p.A12D|PRB1_ENST00000546254.1_Intron	p.A12D	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		1	72	-			12					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.35C>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	4.191	0.034142	0.08101	.	.	ENSG00000251655	ENST00000545626;ENST00000500254	T;T	0.20598	2.06;3.08	1.39	0.474	0.16768	.	.	.	.	.	T	0.37404	0.1002	M	0.83012	2.62	0.43693	D	0.996144	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.61328	0.887;0.887;0.887	T	0.20140	-1.0284	9	0.59425	D	0.04	.	3.6437	0.08177	0.2522:0.0:0.7478:0.0	.	19;12;12	Q86YA1;G3V1R1;G3V1M9	.;.;.	D	12	ENSP00000444249:A12D;ENSP00000420826:A12D	ENSP00000420826:A12D	A	-	2	0	PRB1	11399720	0.559000	0.26562	0.662000	0.29724	0.027000	0.11550	-0.260000	0.08708	0.167000	0.19631	0.558000	0.71614	GCC		0.502	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		6	45	1	0	5.18039e-06	0.278610	5.84172e-06	6	45				
OR5H2	79310	broad.mit.edu	37	3	98002139	98002139	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:98002139A>G	ENST00000355273.2	+	1	408	c.408A>G	c.(406-408)ctA>ctG	p.L136L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	136						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(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AACCTTTACTATATCCAGTGA	0.368																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(406-408)ctA>ctG		olfactory receptor, family 5, subfamily H, member 2							113.0	103.0	106.0					3																	98002139		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002139A>G		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.408A>G	3.37:g.98002139A>G						RP11-325B23.2_ENST00000508616.1_lincRNA	p.L136L	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN			1	408	+			136					Q6IF87	Silent	SNP	ENST00000355273.2	37	c.408A>G	CCDS33801.1																																																																																				0.368	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			22	76	0	0	0	0.654019	0	22	76				
DDB1	1642	broad.mit.edu	37	11	61070101	61070101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:61070101G>A	ENST00000301764.7	-	24	3462	c.3065C>T	c.(3064-3066)aCc>aTc	p.T1022I	DDB1_ENST00000450997.2_Missense_Mutation_p.T333I|DDB1_ENST00000538470.1_Missense_Mutation_p.T69I|DDB1_ENST00000451943.2_Missense_Mutation_p.T9I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1022	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGTGTGGGGGTGGAAGTCTC	0.582								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3064-3066)aCc>aTc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							147.0	152.0	151.0					11																	61070101		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61070101G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3065C>T	11.37:g.61070101G>A	ENSP00000301764:p.Thr1022Ile					DDB1_ENST00000450997.2_Missense_Mutation_p.T333I|DDB1_ENST00000538470.1_Missense_Mutation_p.T69I|DDB1_ENST00000451943.2_Missense_Mutation_p.T9I	p.T1022I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			24	3462	-			1022			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.3065C>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384093	0.61845	.	.	ENSG00000167986	ENST00000301764;ENST00000451943;ENST00000450997;ENST00000538470;ENST00000539332	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.03	5.03	0.67393	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.053234	0.85682	D	0.000000	T	0.33381	0.0861	L	0.36672	1.1	0.80722	D	1	B;B	0.16166	0.016;0.0	B;B	0.15484	0.013;0.002	T	0.17992	-1.0351	10	0.07813	T	0.8	-21.9511	18.3488	0.90330	0.0:0.0:1.0:0.0	.	333;1022	B4DG00;Q16531	.;DDB1_HUMAN	I	1022;9;333;69;188	ENSP00000301764:T1022I;ENSP00000399813:T9I;ENSP00000388705:T333I;ENSP00000441522:T69I;ENSP00000439787:T188I	ENSP00000301764:T1022I	T	-	2	0	DDB1	60826677	1.000000	0.71417	0.946000	0.38457	0.992000	0.81027	9.855000	0.99526	2.336000	0.79503	0.561000	0.74099	ACC		0.582	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		90	117	0	0	0	0.870114	0	90	117				
MALAT1	378938	broad.mit.edu	37	11	65273243	65273243	+	lincRNA	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:65273243A>G	ENST00000534336.1	+	0	8011					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AAGTAGCTCTATTATAATACT	0.373																																						ENST00000534336.1																			0																				94.0	92.0	93.0					11																	65273243		874	1988	2862			378938							g.chr11:65273243A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273243A>G								NR_002819.2						0	8011	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.373	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		21	43	0	0	0	0.639603	0	21	43				
FLG	2312	broad.mit.edu	37	1	152283935	152283935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:152283935C>A	ENST00000368799.1	-	3	3462	c.3427G>T	c.(3427-3429)Gga>Tga	p.G1143*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1143	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGGATCCTTGTCTTCGT	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3427-3429)Gga>Tga		filaggrin							166.0	201.0	189.0					1																	152283935		2203	4296	6499	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283935C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3427G>T	1.37:g.152283935C>A	ENSP00000357789:p.Gly1143*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G1143*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3462	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1143			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.3427G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	37	6.284293	0.97440	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.7	-2.2	0.06994	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	0.8456	0.01161	0.1626:0.367:0.1594:0.311	.	.	.	.	X	1143	.	ENSP00000357789:G1143X	G	-	1	0	FLG	150550559	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.658000	0.05329	-0.340000	0.08388	-1.614000	0.00798	GGA		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		12	285	1	0	1.05317e-09	0.457914	1.28811e-09	12	285				
PFKFB2	5208	broad.mit.edu	37	1	207242833	207242833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:207242833G>A	ENST00000367080.3	+	11	1176	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	PFKFB2_ENST00000545806.1_Missense_Mutation_p.R318Q|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R165Q|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R253Q|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R351Q|PFKFB2_ENST00000473310.1_3'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	351	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTTGCACTTCGAGATCAAGAG	0.458																																						ENST00000367080.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1051-1053)cGa>cAa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2							182.0	158.0	166.0					1																	207242833		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207242833G>A		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1052G>A	1.37:g.207242833G>A	ENSP00000356047:p.Arg351Gln					PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R165Q|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R253Q|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R351Q|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R318Q	p.R351Q	NM_006212.2	NP_006203.2	O60825	F262_HUMAN			11	1176	+	Prostate(682;0.19)		351			Fructose-2,6-bisphosphatase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.1052G>A	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605117	0.96626	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806;ENST00000541914	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.77	4.86	0.63082	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	0.987;0.998;1.0;0.998	P;P;D;P	0.77004	0.627;0.659;0.989;0.772	D	0.86232	0.1638	10	0.72032	D	0.01	.	14.1146	0.65144	0.0722:0.0:0.9278:0.0	.	165;253;351;351	B4DI16;B4DY91;Q5VVQ3;O60825	.;.;.;F262_HUMAN	Q	253;351;351;318;165	ENSP00000408717:R253Q;ENSP00000356047:R351Q;ENSP00000356046:R351Q;ENSP00000439420:R318Q;ENSP00000440878:R165Q	ENSP00000356046:R351Q	R	+	2	0	PFKFB2	205309456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.787000	0.99055	1.444000	0.47605	0.655000	0.94253	CGA		0.458	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			14	67	0	0	0	0.479597	0	14	67				
ZNF431	170959	broad.mit.edu	37	19	21365730	21365730	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:21365730A>G	ENST00000311048.7	+	5	768	c.624A>G	c.(622-624)aaA>aaG	p.K208K	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	208					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AATGTAAAAAATGTGGCAAAT	0.284																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(622-624)aaA>aaG		zinc finger protein 431							36.0	39.0	38.0					19																	21365730		2201	4293	6494	SO:0001819	synonymous_variant	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365730A>G	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.624A>G	19.37:g.21365730A>G						ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	p.K208K	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	768	+			208					A8KAK7|Q8IWC4	Silent	SNP	ENST00000311048.7	37	c.624A>G	CCDS32979.1																																																																																				0.284	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		12	32	0	0	0	0.411799	0	12	32				
ADAMTS7	11173	broad.mit.edu	37	15	79092702	79092702	+	Silent	SNP	G	G	A	rs374705825		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:79092702G>A	ENST00000388820.4	-	2	498	c.288C>T	c.(286-288)acC>acT	p.T96T	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	96					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCTGATTGGCGGTCAGGTTGA	0.731																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(286-288)acC>acT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							9.0	10.0	10.0					15																	79092702		2097	4108	6205	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79092702G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.288C>T	15.37:g.79092702G>A						ADAMTS7_ENST00000566303.1_5'UTR	p.T96T	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			2	498	-			96					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.288C>T	CCDS32303.1																																																																																				0.731	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	6	0	0	0	0.217242	0	4	6				
TPH2	121278	broad.mit.edu	37	12	72416243	72416243	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:72416243C>A	ENST00000333850.3	+	9	1274	c.1133C>A	c.(1132-1134)gCa>gAa	p.A378E		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	378					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCATATGGAGCAGGACTCCTT	0.428																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1132-1134)gCa>gAa		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						113.0	105.0	108.0					12																	72416243		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72416243C>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1133C>A	12.37:g.72416243C>A	ENSP00000329093:p.Ala378Glu						p.A378E	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			9	1274	+			378					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1133C>A	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383065	0.95967	.	.	ENSG00000139287	ENST00000333850	D	0.99833	-7.03	5.98	5.98	0.97165	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99910	0.9957	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96481	0.9356	10	0.87932	D	0	-21.502	20.452	0.99131	0.0:1.0:0.0:0.0	.	378	Q8IWU9	TPH2_HUMAN	E	378	ENSP00000329093:A378E	ENSP00000329093:A378E	A	+	2	0	TPH2	70702510	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	GCA		0.428	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		16	55	1	0	1.33834e-09	0.557998	1.59997e-09	16	55				
TXK	7294	broad.mit.edu	37	4	48096214	48096214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:48096214C>A	ENST00000264316.4	-	8	674	c.589G>T	c.(589-591)Gag>Tag	p.E197*	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	197	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATGGCAGCCTCCGTACTTCTA	0.368																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(589-591)Gag>Tag		TXK tyrosine kinase							102.0	94.0	97.0					4																	48096214		2203	4300	6503	SO:0001587	stop_gained	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48096214C>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.589G>T	4.37:g.48096214C>A	ENSP00000264316:p.Glu197*					TXK_ENST00000510457.1_5'UTR	p.E197*	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			8	674	-			197			SH2.		Q14220	Nonsense_Mutation	SNP	ENST00000264316.4	37	c.589G>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164862	0.38217	.	.	ENSG00000074966	ENST00000264316	.	.	.	5.23	3.46	0.39613	.	0.563358	0.17778	N	0.162359	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.042	0.42164	0.1403:0.5705:0.2892:0.0	.	.	.	.	X	197	.	ENSP00000264316:E197X	E	-	1	0	TXK	47790971	0.290000	0.24343	0.319000	0.25293	0.007000	0.05969	1.897000	0.39799	0.731000	0.32448	0.650000	0.86243	GAG		0.368	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		4	30	1	0	0.00909568	0.150653	0.00951456	4	30				
CILP	8483	broad.mit.edu	37	15	65491100	65491100	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:65491100G>A	ENST00000261883.4	-	9	1690	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	508					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTACACATGGCCAAAGCGCA	0.597																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(1522-1524)ggC>ggT		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							74.0	65.0	68.0					15																	65491100		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65491100G>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1524C>T	15.37:g.65491100G>A							p.G508G	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	1690	-			508					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.1524C>T	CCDS10203.1																																																																																				0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		4	37	0	0	0	0.150653	0	4	37				
JAG1	182	broad.mit.edu	37	20	10639359	10639359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr20:10639359T>C	ENST00000254958.5	-	4	966	c.451A>G	c.(451-453)Att>Gtt	p.I151V	JAG1_ENST00000423891.2_5'UTR	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	151					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTTTCAATAATACTGTCAGGT	0.448									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(451-453)Att>Gtt		jagged 1							89.0	89.0	89.0					20																	10639359		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10639359T>C	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.451A>G	20.37:g.10639359T>C	ENSP00000254958:p.Ile151Val					JAG1_ENST00000423891.2_5'UTR	p.I151V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			4	966	-			151					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.451A>G	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123205	0.37436	.	.	ENSG00000101384	ENST00000254958	D	0.85171	-1.95	5.32	5.32	0.75619	.	0.055797	0.64402	D	0.000002	T	0.74442	0.3717	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.69487	-0.5132	10	0.35671	T	0.21	.	11.3518	0.49592	0.0:0.0:0.1517:0.8483	.	151	P78504	JAG1_HUMAN	V	151	ENSP00000254958:I151V	ENSP00000254958:I151V	I	-	1	0	JAG1	10587359	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	0.920000	0.28705	2.032000	0.59987	0.416000	0.27883	ATT		0.448	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		16	80	0	0	0	0.557998	0	16	80				
HNRNPF	3185	broad.mit.edu	37	10	43882508	43882508	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr10:43882508T>C	ENST00000544000.1	-	4	1232	c.825A>G	c.(823-825)agA>agG	p.R275R	HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Silent_p.R275R|HNRNPF_ENST00000337970.3_Silent_p.R275R|HNRNPF_ENST00000356053.3_Silent_p.R275R|HNRNPF_ENST00000443950.2_Silent_p.R275R	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	275					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGTCGCCGTATCTGTGGTCAT	0.557																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(823-825)agA>agG		heterogeneous nuclear ribonucleoprotein F							59.0	52.0	54.0					10																	43882508		2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882508T>C		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.825A>G	10.37:g.43882508T>C						HNRNPF_ENST00000337970.3_Silent_p.R275R|HNRNPF_ENST00000356053.3_Silent_p.R275R|HNRNPF_ENST00000544000.1_Silent_p.R275R|HNRNPF_ENST00000357065.4_Silent_p.R275R	p.R275R	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1311	-			275					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.825A>G	CCDS7204.1																																																																																				0.557	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			19	16	0	0	0	0.557998	0	19	16				
SH3RF2	153769	broad.mit.edu	37	5	145379827	145379827	+	Silent	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr5:145379827C>G	ENST00000511217.1	+	2	637	c.585C>G	c.(583-585)ctC>ctG	p.L195L	SH3RF2_ENST00000359120.4_Silent_p.L195L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	195	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGGCCCTCTACAACTTCG	0.602																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(583-585)ctC>ctG		SH3 domain containing ring finger 2							39.0	42.0	41.0					5																	145379827		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145379827C>G	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.585C>G	5.37:g.145379827C>G						SH3RF2_ENST00000359120.4_Silent_p.L195L	p.L195L			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	637	+			195			SH3 2.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.585C>G	CCDS4280.1																																																																																				0.602	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		14	11	0	0	0	0.479597	0	14	11				
NLGN1	22871	broad.mit.edu	37	3	173998976	173998976	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:173998976C>T	ENST00000457714.1	+	7	2784	c.2355C>T	c.(2353-2355)ccC>ccT	p.P785P	NLGN1_ENST00000545397.1_Silent_p.P785P|NLGN1_ENST00000401917.3_Silent_p.P825P|NLGN1_ENST00000361589.4_Silent_p.P785P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	802					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAATGATTCCCAACACTATAC	0.483																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2353-2355)ccC>ccT		neuroligin 1							181.0	164.0	170.0					3																	173998976		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998976C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2355C>T	3.37:g.173998976C>T						NLGN1_ENST00000545397.1_Silent_p.P785P|NLGN1_ENST00000361589.4_Silent_p.P785P|NLGN1_ENST00000401917.3_Silent_p.P825P	p.P785P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2784	+	Ovarian(172;0.0025)		802					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.2355C>T	CCDS3222.1																																																																																				0.483	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		18	77	0	0	0	0.520397	0	18	77				
ANKS6	203286	broad.mit.edu	37	9	101552737	101552737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr9:101552737C>A	ENST00000353234.4	-	2	558	c.511G>T	c.(511-513)Gac>Tac	p.D171Y	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Missense_Mutation_p.D171Y			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	171						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGGTGATGGTCCACAAAGGCA	0.652																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(511-513)Gac>Tac		ankyrin repeat and sterile alpha motif domain containing 6							25.0	33.0	30.0					9																	101552737		2057	4204	6261	SO:0001583	missense	203286							g.chr9:101552737C>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.511G>T	9.37:g.101552737C>A	ENSP00000297837:p.Asp171Tyr					ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Missense_Mutation_p.D171Y|ANKS6_ENST00000375019.2_Intron	p.D171Y			Q68DC2	ANKS6_HUMAN			2	558	-		Acute lymphoblastic leukemia(62;0.0527)	171					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.511G>T	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092074	0.36952	.	.	ENSG00000165138	ENST00000375018;ENST00000353234	T;T	0.68903	-0.36;-0.36	5.67	4.78	0.61160	Ankyrin repeat-containing domain (4);	0.137066	0.64402	D	0.000004	T	0.80874	0.4707	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82946	-0.0205	10	0.72032	D	0.01	-32.1037	12.3481	0.55132	0.0:0.9182:0.0:0.0818	.	171	Q68DC2	ANKS6_HUMAN	Y	171	ENSP00000364158:D171Y;ENSP00000297837:D171Y	ENSP00000297837:D171Y	D	-	1	0	ANKS6	100592558	1.000000	0.71417	0.991000	0.47740	0.041000	0.13682	5.477000	0.66799	1.395000	0.46643	0.561000	0.74099	GAC		0.652	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		7	11	1	0	0.00198382	0.248553	0.00214576	7	11				
ADD2	119	broad.mit.edu	37	2	70901925	70901925	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:70901925G>A	ENST00000264436.4	-	14	2070	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	ADD2_ENST00000407644.2_Silent_p.D542D|ADD2_ENST00000355733.3_Silent_p.D542D	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	542					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGGTATCCTCGTCTCCCTTGG	0.557																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1624-1626)gaC>gaT		adducin 2 (beta)							199.0	182.0	188.0					2																	70901925		2203	4300	6503	SO:0001819	synonymous_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70901925G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1626C>T	2.37:g.70901925G>A						ADD2_ENST00000355733.3_Silent_p.D542D|ADD2_ENST00000407644.2_Silent_p.D542D	p.D542D	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			14	2070	-			542					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	c.1626C>T	CCDS1906.1																																																																																				0.557	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		46	30	0	0	0	0.870114	0	46	30				
TTN	7273	broad.mit.edu	37	2	179430729	179430729	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:179430729A>G	ENST00000591111.1	-	276	75431	c.75207T>C	c.(75205-75207)gaT>gaC	p.D25069D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.D24142D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.D17837D|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.D17645D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.D17770D|TTN_ENST00000589042.1_Silent_p.D26710D			Q8WZ42	TITIN_HUMAN	titin	25069	Fibronectin type-III 82. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCCCCTCCATCAATGATGG	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80128-80130)gaT>gaC		titin							161.0	150.0	154.0					2																	179430729		1896	4124	6020	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430729A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75207T>C	2.37:g.179430729A>G						TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.D25069D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.D17770D|TTN_ENST00000342992.6_Silent_p.D24142D|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.D17837D|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.D17645D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.D26710D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80354	-			25069					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.80130T>C																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	132	0	0	0	0.740014	0	33	132				
CNTN2	6900	broad.mit.edu	37	1	205038984	205038984	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:205038984C>T	ENST00000331830.4	+	18	2510	c.2226C>T	c.(2224-2226)gaC>gaT	p.D742D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	742	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAACGGAGACGGCTTCGGCT	0.667																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2224-2226)gaC>gaT		contactin 2 (axonal)							140.0	137.0	138.0					1																	205038984		2203	4299	6502	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205038984C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2226C>T	1.37:g.205038984C>T							p.D742D	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2510	+	all_cancers(21;0.144)|Breast(84;0.0437)		742			Fibronectin type-III 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2226C>T	CCDS1449.1																																																																																				0.667	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		85	143	0	0	0	0.870114	0	85	143				
CIT	11113	broad.mit.edu	37	12	120139472	120139472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:120139472C>T	ENST00000261833.7	-	42	5425	c.5373G>A	c.(5371-5373)gtG>gtA	p.V1791V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.V1833V	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1791	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGCGCTGTTCACCTGCACGA	0.562																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5497-5499)gtG>gtA		citron (rho-interacting, serine/threonine kinase 21)							89.0	79.0	83.0					12																	120139472		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120139472C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5373G>A	12.37:g.120139472C>T						CIT_ENST00000261833.7_Silent_p.V1791V|CIT_ENST00000537607.1_5'UTR	p.V1833V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	43	5554	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1791			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.5499G>A	CCDS9192.1																																																																																				0.562	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		7	30	0	0	0	0.278610	0	7	30				
PDE7A	5150	broad.mit.edu	37	8	66691976	66691976	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:66691976T>C	ENST00000401827.3	-	3	705	c.262A>G	c.(262-264)Att>Gtt	p.I88V	PDE7A_ENST00000396642.3_Missense_Mutation_p.I88V|PDE7A_ENST00000379419.4_Missense_Mutation_p.I62V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	88					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CGAAAATCAATATATGGGTGA	0.348																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(262-264)Att>Gtt		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						117.0	123.0	121.0					8																	66691976		2203	4300	6503	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66691976T>C	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.262A>G	8.37:g.66691976T>C	ENSP00000385632:p.Ile88Val					PDE7A_ENST00000379419.4_Missense_Mutation_p.I62V|PDE7A_ENST00000396642.3_Missense_Mutation_p.I88V	p.I88V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		3	705	-			88					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.262A>G	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535064	0.64972	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642;ENST00000523253	T;T;T;T	0.70516	-0.48;-0.49;-0.46;0.49	5.87	5.87	0.94306	.	0.185864	0.40818	N	0.001007	T	0.79009	0.4374	L	0.55481	1.735	0.42787	D	0.993887	P;P;B	0.38922	0.65;0.651;0.013	P;B;B	0.54140	0.743;0.424;0.034	T	0.80158	-0.1499	10	0.62326	D	0.03	.	15.2514	0.73549	0.0:0.0:0.0:1.0	.	88;88;62	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	V	88;62;88;62	ENSP00000385632:I88V;ENSP00000368730:I62V;ENSP00000379881:I88V;ENSP00000430262:I62V	ENSP00000368730:I62V	I	-	1	0	PDE7A	66854530	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.905000	0.63286	2.244000	0.73946	0.533000	0.62120	ATT		0.348	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			20	139	0	0	0	0.592651	0	20	139				
SIGLEC14	100049587	broad.mit.edu	37	19	52148741	52148741	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:52148741C>A	ENST00000360844.6	-	4	784	c.743G>T	c.(742-744)gGc>gTc	p.G248V	SIGLEC5_ENST00000534261.2_5'UTR|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	248	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTGCCTGTGCCATTTCTGAA	0.552																																						ENST00000360844.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(742-744)gGc>gTc		sialic acid binding Ig-like lectin 14							164.0	165.0	164.0					19																	52148741		1846	4064	5910	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52148741C>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.743G>T	19.37:g.52148741C>A	ENSP00000354090:p.Gly248Val					SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'UTR|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	p.G248V	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	4	784	-		all_neural(266;0.0299)	248			Ig-like C2-type 2.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.743G>T	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620348	0.28801	.	.	ENSG00000254415	ENST00000360844	T	0.27890	1.64	2.83	-0.546	0.11840	Immunoglobulin-like (1);	9.239730	0.00567	N	0.000293	T	0.11922	0.0290	N	0.02539	-0.55	0.09310	N	1	B	0.28026	0.198	B	0.14578	0.011	T	0.10613	-1.0622	10	0.32370	T	0.25	.	4.1836	0.10387	0.33:0.3292:0.3408:0.0	.	248	Q08ET2	SIG14_HUMAN	V	248	ENSP00000354090:G248V	ENSP00000354090:G248V	G	-	2	0	SIGLEC14	56840553	0.000000	0.05858	0.000000	0.03702	0.621000	0.37620	-4.248000	0.00266	-0.093000	0.12396	0.462000	0.41574	GGC		0.552	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		14	44	1	0	1.5842e-08	0.435327	1.85212e-08	14	44				
HEPH	9843	broad.mit.edu	37	X	65393539	65393539	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chrX:65393539C>T	ENST00000343002.2	+	3	1185	c.521C>T	c.(520-522)aCc>aTc	p.T174I	HEPH_ENST00000441993.2_Missense_Mutation_p.T177I|HEPH_ENST00000419594.1_Missense_Mutation_p.T177I|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000519389.1_Missense_Mutation_p.T228I|HEPH_ENST00000374727.3_Missense_Mutation_p.T177I			Q9BQS7	HEPH_HUMAN	hephaestin	174	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGCACCCACCGATGCTGAC	0.552																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(682-684)aCc>aTc		hephaestin							88.0	63.0	71.0					X																	65393539		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65393539C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.521C>T	X.37:g.65393539C>T	ENSP00000343939:p.Thr174Ile					HEPH_ENST00000343002.2_Missense_Mutation_p.T174I|HEPH_ENST00000374727.3_Missense_Mutation_p.T177I|HEPH_ENST00000419594.1_Missense_Mutation_p.T177I|HEPH_ENST00000441993.2_Missense_Mutation_p.T177I|HEPH_ENST00000336279.5_5'UTR	p.T228I			Q9BQS7	HEPH_HUMAN			4	862	+			174			Plastocyanin-like 2.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.683C>T		.	.	.	.	.	.	.	.	.	.	c	18.74	3.688690	0.68271	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	4.22	4.22	0.49857	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	M	0.86420	2.815	0.37316	D	0.909341	D;D;D	0.89917	0.985;1.0;0.999	D;D;D	0.79108	0.922;0.986;0.992	D	0.99944	1.1448	10	0.44086	T	0.13	.	14.3196	0.66476	0.0:1.0:0.0:0.0	.	228;177;174	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	I	228;177;174;177;177;174;174	ENSP00000430620:T228I;ENSP00000363859:T177I;ENSP00000396907:T174I;ENSP00000411687:T177I;ENSP00000413211:T177I;ENSP00000343939:T174I;ENSP00000398078:T174I	ENSP00000343939:T174I	T	+	2	0	HEPH	65310264	1.000000	0.71417	0.813000	0.32504	0.926000	0.56050	5.739000	0.68622	1.922000	0.55676	0.597000	0.82753	ACC		0.552	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		5	9	0	0	0	0.217242	0	5	9				
XXYLT1	152002	broad.mit.edu	37	3	194790786	194790786	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:194790786C>T	ENST00000310380.6	-	4	948	c.840G>A	c.(838-840)ccG>ccA	p.P280P	XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000429994.1_Silent_p.P134P|XXYLT1_ENST00000355729.4_Silent_p.P77P|XXYLT1_ENST00000356740.5_Silent_p.P74P|XXYLT1_ENST00000437101.1_Silent_p.P77P	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	280						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CCTCGGGGGGCGGGCCCCCAA	0.677																																						ENST00000310380.6																			0											c.(838-840)ccG>ccA		xyloside xylosyltransferase 1							22.0	27.0	25.0					3																	194790786		1786	3985	5771	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790786C>T	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.840G>A	3.37:g.194790786C>T						XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Silent_p.P77P|XXYLT1_ENST00000356740.5_Silent_p.P74P|XXYLT1_ENST00000437101.1_Silent_p.P77P|XXYLT1_ENST00000429994.1_Silent_p.P134P	p.P280P	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	948	-			280					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.840G>A	CCDS43188.1																																																																																				0.677	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		22	87	0	0	0	0.608945	0	22	87				
PAXIP1	22976	broad.mit.edu	37	7	154767472	154767472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:154767472C>T	ENST00000404141.1	-	6	1162	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	PAXIP1_ENST00000397192.1_Silent_p.R336R|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	336					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCCTCAGTGTCCGTACAGCTG	0.428																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(1006-1008)cgG>cgA		PAX interacting (with transcription-activation domain) protein 1							42.0	42.0	42.0					7																	154767472		1953	4167	6120	SO:0001819	synonymous_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767472C>T	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1008G>A	7.37:g.154767472C>T						PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.R336R	p.R336R			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	1162	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	336					O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	c.1008G>A	CCDS47753.1																																																																																				0.428	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		20	17	0	0	0	0.592651	0	20	17				
HLCS	3141	broad.mit.edu	37	21	38308946	38308946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr21:38308946C>T	ENST00000399120.1	-	5	2029	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HLCS_ENST00000336648.4_Missense_Mutation_p.V267I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	267					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AAGTTCTGGACTGTCTTGTGC	0.572																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(799-801)Gtc>Atc		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						77.0	74.0	75.0					21																	38308946		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38308946C>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.799G>A	21.37:g.38308946C>T	ENSP00000382071:p.Val267Ile					HLCS_ENST00000336648.3_Missense_Mutation_p.V267I	p.V267I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			5	2029	-		Myeloproliferative disorder(46;0.0422)	267					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.799G>A	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	6.807	0.517873	0.13005	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98264	-4.83;-4.83	5.91	4.85	0.62838	.	0.302444	0.35772	N	0.002989	D	0.95567	0.8559	L	0.39566	1.225	0.30853	N	0.73435	B;B	0.28378	0.209;0.108	B;B	0.22152	0.038;0.025	D	0.92441	0.5962	10	0.22109	T	0.4	.	15.6638	0.77209	0.0:0.923:0.0:0.077	.	267;267	B2RAH1;P50747	.;BPL1_HUMAN	I	267	ENSP00000382071:V267I;ENSP00000338387:V267I	ENSP00000338387:V267I	V	-	1	0	HLCS	37230816	0.198000	0.23374	0.336000	0.25522	0.015000	0.08874	0.945000	0.29056	2.793000	0.96121	0.655000	0.94253	GTC		0.572	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			18	44	0	0	0	0.539581	0	18	44				
USP46	64854	broad.mit.edu	37	4	53470719	53470719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:53470719C>T	ENST00000441222.3	-	6	854	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	USP46_ENST00000508499.1_Missense_Mutation_p.E217K|USP46_ENST00000451218.2_Missense_Mutation_p.E197K	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	224	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TATTTTTGTTCACTACACAGT	0.358																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(670-672)Gaa>Aaa		ubiquitin specific peptidase 46							160.0	148.0	152.0					4																	53470719		1856	4096	5952	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53470719C>T	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.670G>A	4.37:g.53470719C>T	ENSP00000407818:p.Glu224Lys					USP46_ENST00000451218.2_Missense_Mutation_p.E197K|USP46_ENST00000508499.1_Missense_Mutation_p.E217K	p.E224K	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		6	854	-			224					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.670G>A	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044950	0.93685	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.06142	3.34;3.34;3.34	5.55	5.55	0.83447	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000014	T	0.26484	0.0647	M	0.78285	2.405	0.80722	D	1	B;P;D;P	0.67145	0.338;0.712;0.996;0.951	B;P;D;P	0.68039	0.177;0.637;0.955;0.823	T	0.00152	-1.1983	10	0.45353	T	0.12	-19.9689	18.8564	0.92254	0.0:1.0:0.0:0.0	.	108;212;224;217	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	K	224;197;217	ENSP00000407818:E224K;ENSP00000390102:E197K;ENSP00000423244:E217K	ENSP00000407818:E224K	E	-	1	0	USP46	53165476	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.711000	0.84669	2.768000	0.95171	0.655000	0.94253	GAA		0.358	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		21	13	0	0	0	0.624587	0	21	13				
FBF1	85302	broad.mit.edu	37	17	73915827	73915827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:73915827G>A	ENST00000586717.1	-	19	2291	c.2018C>T	c.(2017-2019)aCg>aTg	p.T673M	FBF1_ENST00000389570.4_Missense_Mutation_p.T673M|FBF1_ENST00000319129.5_Missense_Mutation_p.T672M			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	673					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GTGCTGGGCCGTAAGCTCAGC	0.667																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(2017-2019)aCg>aTg		Fas (TNFRSF6) binding factor 1							48.0	49.0	49.0					17																	73915827		2021	4187	6208	SO:0001583	missense	85302							g.chr17:73915827G>A	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2018C>T	17.37:g.73915827G>A	ENSP00000465132:p.Thr673Met					FBF1_ENST00000319129.5_Missense_Mutation_p.T672M|FBF1_ENST00000389570.4_Missense_Mutation_p.T673M	p.T673M			A6NLR5	A6NLR5_HUMAN			19	2291	-			672					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.2018C>T		.	.	.	.	.	.	.	.	.	.	G	11.70	1.715481	0.30413	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.18338	2.22;2.22	5.15	0.298	0.15766	.	.	.	.	.	T	0.18964	0.0455	L	0.54323	1.7	0.09310	N	1	D;D;D	0.59357	0.985;0.973;0.985	P;P;P	0.49887	0.522;0.625;0.522	T	0.14144	-1.0483	9	0.46703	T	0.11	-1.6257	3.0105	0.06043	0.4879:0.0:0.3139:0.1982	.	687;673;672	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	M	673;673;672;686	ENSP00000374221:T673M;ENSP00000324292:T672M	ENSP00000324292:T672M	T	-	2	0	FBF1	71427422	0.000000	0.05858	0.153000	0.22517	0.082000	0.17680	-0.067000	0.11579	0.534000	0.28695	0.655000	0.94253	ACG		0.667	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		3	37	0	0	0	0.115264	0	3	37				
ADAR	103	broad.mit.edu	37	1	154562371	154562371	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:154562371T>C	ENST00000368474.4	-	8	2729	c.2530A>G	c.(2530-2532)Ata>Gta	p.I844V	ADAR_ENST00000292205.5_Missense_Mutation_p.I887V|ADAR_ENST00000368471.3_Missense_Mutation_p.I549V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	844					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGCATGGCTATCTGGTCATGG	0.552																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2530-2532)Ata>Gta		adenosine deaminase, RNA-specific							59.0	48.0	52.0					1																	154562371		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154562371T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2530A>G	1.37:g.154562371T>C	ENSP00000357459:p.Ile844Val					ADAR_ENST00000368471.3_Missense_Mutation_p.I549V|ADAR_ENST00000292205.5_Missense_Mutation_p.I887V	p.I844V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	8	2729	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		844					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2530A>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022126	0.54576	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.12879	2.8;2.79;2.64;2.83	5.18	4.04	0.47022	Adenosine deaminase/editase (1);	0.106321	0.64402	D	0.000003	T	0.03608	0.0103	N	0.20986	0.625	0.50313	D	0.999864	B;P;B	0.37525	0.423;0.598;0.236	B;B;B	0.36666	0.138;0.23;0.069	T	0.41822	-0.9487	10	0.27785	T	0.31	-20.6209	8.3578	0.32340	0.0:0.0794:0.1359:0.7848	.	799;818;844	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	V	887;844;549;813	ENSP00000292205:I887V;ENSP00000357459:I844V;ENSP00000357456:I549V;ENSP00000431794:I813V	ENSP00000292205:I887V	I	-	1	0	ADAR	152828995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.873000	0.39558	2.189000	0.69895	0.460000	0.39030	ATA		0.552	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		22	16	0	0	0	0.667858	0	22	16				
MICAL2	9645	broad.mit.edu	37	11	12241956	12241956	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:12241956G>T	ENST00000256194.4	+	9	1445	c.1157G>T	c.(1156-1158)cGg>cTg	p.R386L	MICAL2_ENST00000379612.3_Missense_Mutation_p.R386L|MICAL2_ENST00000527546.1_Missense_Mutation_p.R386L|MICAL2_ENST00000342902.5_Missense_Mutation_p.R386L|MICAL2_ENST00000537344.1_Missense_Mutation_p.R386L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	386	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTGCGGGAGCGGCAGGCGCAC	0.592																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1156-1158)cGg>cTg		microtubule associated monooxygenase, calponin and LIM domain containing 2							71.0	66.0	68.0					11																	12241956		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12241956G>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1157G>T	11.37:g.12241956G>T	ENSP00000256194:p.Arg386Leu					MICAL2_ENST00000527546.1_Missense_Mutation_p.R386L|MICAL2_ENST00000379612.3_Missense_Mutation_p.R386L|MICAL2_ENST00000342902.5_Missense_Mutation_p.R386L|MICAL2_ENST00000537344.1_Missense_Mutation_p.R386L	p.R386L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	9	1445	+			386					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1157G>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033784	0.93575	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.38	5.38	0.77491	Calponin homology domain (1);	0.054364	0.64402	D	0.000001	T	0.36908	0.0984	M	0.80183	2.485	0.58432	D	0.99999	D;D;P;D;P	0.69078	0.997;0.989;0.916;0.989;0.913	D;P;P;P;P	0.69479	0.964;0.821;0.643;0.821;0.688	T	0.10590	-1.0623	10	0.72032	D	0.01	.	18.926	0.92544	0.0:0.0:1.0:0.0	.	386;386;386;386;386	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	L	386	ENSP00000441689:R386L;ENSP00000256194:R386L;ENSP00000433965:R386L;ENSP00000344894:R386L;ENSP00000368932:R386L	ENSP00000256194:R386L	R	+	2	0	MICAL2	12198532	1.000000	0.71417	0.965000	0.40720	0.999000	0.98932	6.566000	0.73978	2.793000	0.96121	0.655000	0.94253	CGG		0.592	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		3	64	1	0	0.115264	0.115264	0.117481	3	64				
MED13	9969	broad.mit.edu	37	17	60087936	60087936	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:60087936G>T	ENST00000397786.2	-	9	2018	c.1942C>A	c.(1942-1944)Cag>Aag	p.Q648K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	648					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACACTTTCCTGTCCAAAAGGT	0.348																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1942-1944)Cag>Aag		mediator complex subunit 13							68.0	61.0	63.0					17																	60087936		1841	4084	5925	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60087936G>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1942C>A	17.37:g.60087936G>T	ENSP00000380888:p.Gln648Lys						p.Q648K	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			9	2018	-			648					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.1942C>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	9.170	1.020866	0.19433	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73258	-0.73	5.62	5.62	0.85841	.	0.208515	0.43579	D	0.000541	T	0.54791	0.1880	L	0.40543	1.245	0.31614	N	0.651117	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.51092	-0.8749	10	0.05959	T	0.93	-19.9459	8.8895	0.35425	0.0746:0.0:0.776:0.1494	.	161;648	Q9P0Q5;Q9UHV7	.;MED13_HUMAN	K	648;647	ENSP00000380888:Q648K	ENSP00000262436:Q647K	Q	-	1	0	MED13	57442718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.869000	0.48444	2.638000	0.89438	0.585000	0.79938	CAG		0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		8	38	1	0	1.12685e-05	0.307466	1.25293e-05	8	38				
ORC2	4999	broad.mit.edu	37	2	201798644	201798644	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:201798644G>C	ENST00000234296.2	-	10	1011	c.762C>G	c.(760-762)acC>acG	p.T254T		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	254					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TTCTATCAGAGGTTAAAACTT	0.343																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(760-762)acC>acG		origin recognition complex, subunit 2							103.0	105.0	104.0					2																	201798644		2203	4298	6501	SO:0001819	synonymous_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201798644G>C		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.762C>G	2.37:g.201798644G>C							p.T254T	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			10	1011	-			254					Q13204|Q53TX5	Silent	SNP	ENST00000234296.2	37	c.762C>G	CCDS2334.1																																																																																				0.343	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		8	84	0	0	0	0.278610	0	8	84				
NBPF1	55672	broad.mit.edu	37	1	16902841	16902841	+	Missense_Mutation	SNP	C	C	A	rs549809172		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:16902841C>A	ENST00000430580.2	-	19	2927	c.2040G>T	c.(2038-2040)aaG>aaT	p.K680N	NBPF1_ENST00000287968.8_Missense_Mutation_p.K45N|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000432949.1_Missense_Mutation_p.K138N	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	680						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCCCCTGGGACTTGTCTGGCT	0.582													.|||	1	0.000199681	0.0	0.0	5008	,	,		49488	0.0		0.0	False		,,,				2504	0.001					ENST00000430580.2																			0											c.(2038-2040)aaG>aaT		neuroblastoma breakpoint family, member 1							369.0	402.0	390.0					1																	16902841		1511	2708	4219	SO:0001583	missense	55672					cytoplasm		g.chr1:16902841C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2040G>T	1.37:g.16902841C>A	ENSP00000474456:p.Lys680Asn					NBPF1_ENST00000432949.1_Missense_Mutation_p.K138N|NBPF1_ENST00000287968.8_Missense_Mutation_p.K45N	p.K680N	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2927	-			680					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2040G>T																																																																																					0.582	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		18	653	1	0	3.01185e-09	0.667858	3.57376e-09	18	653				
UGT2A3	79799	broad.mit.edu	37	4	69796456	69796456	+	Missense_Mutation	SNP	G	G	C	rs558964926		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:69796456G>C	ENST00000251566.4	-	5	1142	c.1112C>G	c.(1111-1113)aCt>aGt	p.T371S	UGT2A3_ENST00000420231.2_Missense_Mutation_p.T82S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	371					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCACCATGAGTGATAAAAGC	0.358																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1111-1113)aCt>aGt		UDP glucuronosyltransferase 2 family, polypeptide A3							42.0	43.0	43.0					4																	69796456		2203	4298	6501	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796456G>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1112C>G	4.37:g.69796456G>C	ENSP00000251566:p.Thr371Ser					UGT2A3_ENST00000420231.2_Missense_Mutation_p.T82S	p.T371S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			5	1142	-			371					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1112C>G	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406075	0.25378	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.69040	-0.37;2.78	1.99	1.99	0.26369	.	0.125650	0.53938	D	0.000059	T	0.78616	0.4311	M	0.78049	2.395	0.28939	N	0.891092	D	0.89917	1.0	D	0.91635	0.999	T	0.71580	-0.4550	10	0.87932	D	0	.	9.5666	0.39402	0.0:0.0:1.0:0.0	.	371	Q6UWM9	UD2A3_HUMAN	S	371;82	ENSP00000251566:T371S;ENSP00000440115:T82S	ENSP00000251566:T371S	T	-	2	0	UGT2A3	69831045	1.000000	0.71417	0.342000	0.25602	0.077000	0.17291	4.117000	0.57877	1.094000	0.41399	0.491000	0.48974	ACT		0.358	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		11	5	0	0	0	0.411799	0	11	5				
DNAH9	1770	broad.mit.edu	37	17	11660996	11660996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:11660996A>G	ENST00000262442.4	+	35	7050	c.6982A>G	c.(6982-6984)Aca>Gca	p.T2328A	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2328A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2328	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCTAGACACACTCAGAAC	0.468																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6982-6984)Aca>Gca		dynein, axonemal, heavy chain 9							93.0	80.0	84.0					17																	11660996		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11660996A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6982A>G	17.37:g.11660996A>G	ENSP00000262442:p.Thr2328Ala					DNAH9_ENST00000454412.2_Missense_Mutation_p.T2328A	p.T2328A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	35	7050	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2328			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6982A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	2.902	-0.227331	0.06022	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.24908	1.83;1.83	5.11	0.366	0.16136	.	0.602435	0.16875	N	0.195952	T	0.11495	0.0280	N	0.11284	0.12	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20306	-1.0279	10	0.15952	T	0.53	.	9.7615	0.40534	0.7278:0.0:0.2722:0.0	.	2328	Q9NYC9	DYH9_HUMAN	A	2328;2328;910	ENSP00000262442:T2328A;ENSP00000414874:T2328A	ENSP00000262442:T2328A	T	+	1	0	DNAH9	11601721	0.028000	0.19301	0.890000	0.34922	0.389000	0.30415	2.579000	0.46059	0.055000	0.16094	0.460000	0.39030	ACA		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		20	15	0	0	0	0.608945	0	20	15				
TXK	7294	broad.mit.edu	37	4	48096215	48096215	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:48096215C>A	ENST00000264316.4	-	8	673	c.588G>T	c.(586-588)acG>acT	p.T196T	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGGCAGCCTCCGTACTTCTAC	0.373																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(586-588)acG>acT		TXK tyrosine kinase							101.0	93.0	96.0					4																	48096215		2203	4300	6503	SO:0001819	synonymous_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48096215C>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.588G>T	4.37:g.48096215C>A						TXK_ENST00000510457.1_5'UTR	p.T196T	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			8	673	-			196			SH2.		Q14220	Silent	SNP	ENST00000264316.4	37	c.588G>T	CCDS3480.1																																																																																				0.373	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		4	30	1	0	0.00909568	0.150653	0.00951456	4	30				
ZBTB18	10472	broad.mit.edu	37	1	244217113	244217113	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:244217113C>G	ENST00000358704.4	+	2	186	c.37C>G	c.(37-39)Cca>Gca	p.P13A		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	4					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TATGGAGTTTCCAGACCATAG	0.473																																						ENST00000358704.4																			0											c.(37-39)Cca>Gca		zinc finger and BTB domain containing 18							71.0	67.0	68.0					1																	244217113		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244217113C>G	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.37C>G	1.37:g.244217113C>G	ENSP00000351539:p.Pro13Ala						p.P13A	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	186	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.37C>G	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003599	0.74932	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.71579	-0.58	5.22	5.22	0.72569	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	N	0.21142	0.635	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.986;0.986;0.999	T	0.77109	-0.2709	10	0.42905	T	0.14	.	18.7662	0.91874	0.0:1.0:0.0:0.0	.	13;4;13	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	A	13	ENSP00000351539:P13A	ENSP00000351539:P13A	P	+	1	0	ZNF238	242283736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.432000	0.82394	0.655000	0.94253	CCA		0.473	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		3	44	0	0	0	0.150653	0	3	44				
GIGYF2	26058	broad.mit.edu	37	2	233660784	233660784	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:233660784A>G	ENST00000409547.1	+	16	1803	c.1492A>G	c.(1492-1494)Atg>Gtg	p.M498V	GIGYF2_ENST00000409451.3_Missense_Mutation_p.M519V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M492V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M520V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.M498V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.M520V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M329V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	498					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCTGAGAAAATGGTGGCTTA	0.383																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1558-1560)Atg>Gtg		GRB10 interacting GYF protein 2							149.0	135.0	139.0					2																	233660784		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233660784A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1492A>G	2.37:g.233660784A>G	ENSP00000386537:p.Met498Val					GIGYF2_ENST00000373563.4_Missense_Mutation_p.M498V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M519V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.M498V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M492V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M520V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M329V	p.M520V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	15	1755	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	498					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1558A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064065	0.76187	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.75704	-0.82;-0.81;-0.82;-0.81;-0.96;-0.81;-0.82;-0.94;-0.71	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.71581	2.175	0.53688	D	0.999974	P;D;B;P	0.57571	0.934;0.98;0.325;0.551	D;D;B;P	0.68483	0.943;0.958;0.06;0.448	T	0.82139	-0.0605	10	0.32370	T	0.25	-17.2702	12.3984	0.55399	0.8599:0.1401:0.0:0.0	.	329;519;498;492	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	520;441;498;520;498;498;441;492;519;492;329	ENSP00000362667:M520V;ENSP00000362664:M498V;ENSP00000386765:M520V;ENSP00000386537:M498V;ENSP00000404195:M441V;ENSP00000387070:M492V;ENSP00000387170:M519V;ENSP00000410297:M492V;ENSP00000411505:M329V	ENSP00000362664:M498V	M	+	1	0	GIGYF2	233369028	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	ATG		0.383	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		14	64	0	0	0	0.479597	0	14	64				
GAREM	64762	broad.mit.edu	37	18	29848299	29848299	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr18:29848299G>A	ENST00000269209.6	-	6	2169	c.2166C>T	c.(2164-2166)tgC>tgT	p.C722C	GAREM_ENST00000399218.4_Silent_p.C721C			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	722					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GTAAGGCAGGGCATGACGTAC	0.532																																						ENST00000399218.4																			0											c.(2161-2163)tgC>tgT		GRB2 associated, regulator of MAPK1							105.0	103.0	103.0					18																	29848299		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29848299G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2166C>T	18.37:g.29848299G>A						GAREM_ENST00000269209.6_Silent_p.C722C	p.C721C	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	2218	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.2163C>T	CCDS56057.1																																																																																				0.532	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		13	72	0	0	0	0.457914	0	13	72				
RP11-478B9.1	0	broad.mit.edu	37	12	45458369	45458369	+	RNA	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:45458369C>A	ENST00000548424.1	+	0	448																											GGTGGGGTCACTGTTCCAAGG	0.532																																						ENST00000548424.1																			0																																																			0							g.chr12:45458369C>A																													12.37:g.45458369C>A														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.532	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			10	6	1	0	9.70103e-10	0.361761	1.19571e-09	10	6				
THBS1	7057	broad.mit.edu	37	15	39884807	39884807	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:39884807C>G	ENST00000260356.5	+	17	2736	c.2571C>G	c.(2569-2571)gaC>gaG	p.D857E	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	857					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATACCTGTGACAACAATCAGG	0.443																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2569-2571)gaC>gaG		thrombospondin 1	Becaplermin(DB00102)						70.0	57.0	62.0					15																	39884807		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884807C>G		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2571C>G	15.37:g.39884807C>G	ENSP00000260356:p.Asp857Glu						p.D857E	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2736	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	857					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2571C>G	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931467	0.73442	.	.	ENSG00000137801	ENST00000260356	D	0.97731	-4.51	5.0	5.0	0.66597	.	0.000000	0.38217	N	0.001775	D	0.98557	0.9518	M	0.85710	2.77	0.45150	D	0.998162	D;D	0.69078	0.997;0.993	D;D	0.75484	0.953;0.986	D	0.98939	1.0790	10	0.72032	D	0.01	-31.2462	11.8097	0.52175	0.0:0.8708:0.0:0.1292	.	772;857	B4E3J7;P07996	.;TSP1_HUMAN	E	857	ENSP00000260356:D857E	ENSP00000260356:D857E	D	+	3	2	THBS1	37672099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.316000	0.51960	2.474000	0.83562	0.655000	0.94253	GAC		0.443	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		4	5	0	0	0	0.184627	0	4	5				
RPS6KC1	26750	broad.mit.edu	37	1	213414710	213414710	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:213414710C>G	ENST00000366960.3	+	11	2041	c.1891C>G	c.(1891-1893)Cca>Gca	p.P631A	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P619A|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P334A|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P419A|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	631					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACCTTTGAAACCATTCTTTAC	0.403																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1891-1893)Cca>Gca		ribosomal protein S6 kinase, 52kDa, polypeptide 1							55.0	59.0	58.0					1																	213414710		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414710C>G	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1891C>G	1.37:g.213414710C>G	ENSP00000355927:p.Pro631Ala					RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P334A|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P419A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P619A	p.P631A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2041	+			631					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1891C>G	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	6.715	0.500578	0.12822	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.40756	1.42;1.47;1.48;1.02	5.19	3.28	0.37604	.	0.116819	0.64402	N	0.000013	T	0.28333	0.0700	N	0.21583	0.68	0.31220	N	0.697593	B;B;B	0.20671	0.047;0.003;0.007	B;B;B	0.24541	0.054;0.006;0.006	T	0.20042	-1.0287	10	0.33940	T	0.23	-38.3436	10.4692	0.44626	0.0:0.7875:0.1387:0.0738	.	419;631;619	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	A	419;631;619;334	ENSP00000442306:P419A;ENSP00000355927:P631A;ENSP00000355926:P619A;ENSP00000439282:P334A	ENSP00000355926:P619A	P	+	1	0	RPS6KC1	211481333	1.000000	0.71417	0.693000	0.30195	0.958000	0.62258	2.739000	0.47409	0.551000	0.29008	0.557000	0.71058	CCA		0.403	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		25	43	0	0	0	0.654019	0	25	43				
SAMD9L	219285	broad.mit.edu	37	7	92762231	92762231	+	Missense_Mutation	SNP	C	C	A	rs376356072		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:92762231C>A	ENST00000318238.4	-	5	4270	c.3054G>T	c.(3052-3054)gaG>gaT	p.E1018D	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1018D|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1018D	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1018					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATAAATTCTCTTCTAATA	0.363																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3052-3054)gaG>gaT		sterile alpha motif domain containing 9-like							50.0	54.0	53.0					7																	92762231		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92762231C>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3054G>T	7.37:g.92762231C>A	ENSP00000326247:p.Glu1018Asp					SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1018D|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1018D	p.E1018D	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4270	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1018					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3054G>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682325	0.29872	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25250	1.81;1.81;1.81	5.11	-1.01	0.10169	.	0.231409	0.29932	N	0.010836	T	0.33206	0.0855	M	0.61703	1.905	0.09310	N	1	D	0.59767	0.986	P	0.56398	0.797	T	0.13737	-1.0498	10	0.62326	D	0.03	-14.8516	6.3673	0.21461	0.0:0.455:0.1182:0.4267	.	1018	Q8IVG5	SAM9L_HUMAN	D	1018	ENSP00000326247:E1018D;ENSP00000405760:E1018D;ENSP00000408796:E1018D	ENSP00000326247:E1018D	E	-	3	2	SAMD9L	92600167	0.000000	0.05858	0.020000	0.16555	0.525000	0.34531	-0.219000	0.09228	-0.127000	0.11661	0.467000	0.42956	GAG		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		22	55	1	0	5.35356e-11	0.639603	6.70249e-11	22	55				
ZNF534	147658	broad.mit.edu	37	19	52941671	52941671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:52941671C>A	ENST00000332323.6	+	4	1058	c.997C>A	c.(997-999)Cat>Aat	p.H333N	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H320N	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTGTAATCCATACTGGAGA	0.418																																						ENST00000332323.6																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(997-999)Cat>Aat		zinc finger protein 534							62.0	55.0	57.0					19																	52941671		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941671C>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.997C>A	19.37:g.52941671C>A	ENSP00000327538:p.His333Asn					ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H320N|ZNF534_ENST00000301085.4_Intron	p.H333N	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	1058	+			333					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.997C>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305447	0.23736	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.67345	-0.26;-0.26	1.82	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80732	0.4679	M	0.91768	3.24	0.53688	D	0.99997	P;D	0.67145	0.668;0.996	B;D	0.63957	0.253;0.92	T	0.81169	-0.1055	9	0.87932	D	0	.	7.2861	0.26340	0.2623:0.7377:0.0:0.0	.	320;333	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	N	333;320;332	ENSP00000327538:H333N;ENSP00000391358:H320N	ENSP00000327538:H333N	H	+	1	0	ZNF534	57633483	0.993000	0.37304	0.025000	0.17156	0.014000	0.08584	4.509000	0.60448	0.983000	0.38602	0.467000	0.42956	CAT		0.418	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		11	10	1	0	0.000978159	0.387290	0.00106526	11	10				
SPDYE3	441272	broad.mit.edu	37	7	99917380	99917380	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:99917380C>A	ENST00000332397.6	+	9	1723	c.1539C>A	c.(1537-1539)ttC>ttA	p.F513L	SPDYE3_ENST00000437326.2_Missense_Mutation_p.F136L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	513										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGTTCCAGTTCTTCTGTTCCA	0.607																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1537-1539)ttC>ttA		speedy/RINGO cell cycle regulator family member E3							85.0	93.0	91.0					7																	99917380		2203	4300	6503	SO:0001583	missense	441272							g.chr7:99917380C>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1539C>A	7.37:g.99917380C>A	ENSP00000329565:p.Phe513Leu					SPDYE3_ENST00000437326.2_Missense_Mutation_p.F136L	p.F513L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			9	1723	+			513					Q495Y9|Q6PHC4	Missense_Mutation	SNP	ENST00000332397.6	37	c.1539C>A	CCDS47658.2	.	.	.	.	.	.	.	.	.	.	C	6.503	0.461093	0.12342	.	.	ENSG00000214300	ENST00000332397;ENST00000437326	.	.	.	0.185	0.185	0.15096	.	0.102100	0.41294	N	0.000903	T	0.19967	0.0480	N	0.25245	0.725	0.09310	N	1	.	.	.	.	.	.	T	0.23691	-1.0181	6	0.14656	T	0.56	.	.	.	.	.	.	.	.	L	513;136	.	ENSP00000329565:F513L	F	+	3	2	SPDYE3	99755316	0.854000	0.29725	0.004000	0.12327	0.004000	0.04260	0.895000	0.28363	0.293000	0.22520	0.298000	0.19748	TTC		0.607	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		32	66	1	0	4.74835e-14	0.750413	6.13812e-14	32	66				
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:7579415C>T	ENST00000269305.4	-	4	461	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*	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	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)	TGACAGGGGCCAGGAGGGGGC	0.632		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"""		25	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Nonsense(7)	p.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)	lung(7)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|prostate(1)|liver(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.(271-273)tGg>tAg	Other conserved DNA damage response genes	tumor protein p53							44.0	50.0	48.0					17																	7579415		2202	4299	6501	SO:0001587	stop_gained	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.chr17:7579415C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.272G>A	17.37:g.7579415C>T	ENSP00000269305:p.Trp91*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*	p.W91*	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)	4	404	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	91		W -> C (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.272G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911071	0.72983	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.08	4.08	0.47627	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	14.5887	0.68347	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	2	0	TP53	7520140	0.997000	0.39634	0.998000	0.56505	0.633000	0.38033	-0.143000	0.10296	2.561000	0.86390	0.561000	0.74099	TGG		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		81	17	0	0	0	0.870114	0	81	17				
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																						ENST00000359062.3																			1	Substitution - coding silent(1)	p.L275L(1)	urinary_tract(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(823-825)ctG>ctA		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						26.0	32.0	30.0					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20523043G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A						RP11-284H19.1_ENST00000535755.1_RNA	p.L275L	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			1	865	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	275					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.825G>A	CCDS31754.1																																																																																				0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			16	60	0	0	0	0.575678	0	16	60				
PCDH10	57575	broad.mit.edu	37	4	134072873	134072873	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:134072873C>T	ENST00000264360.5	+	1	2404	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTACTTGTACGCCCTGCGCT	0.592																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1576-1578)taC>taT		protocadherin 10							64.0	68.0	67.0					4																	134072873		2198	4292	6490	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072873C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1578C>T	4.37:g.134072873C>T							p.Y526Y	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2404	+			526			Cadherin 5.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1578C>T	CCDS34063.1																																																																																				0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		18	52	0	0	0	0.557998	0	18	52				
ENTPD5	957	broad.mit.edu	37	14	74440651	74440651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:74440651C>T	ENST00000334696.6	-	12	1134	c.815G>A	c.(814-816)tGt>tAt	p.C272Y	ENTPD5_ENST00000557325.1_Missense_Mutation_p.C272Y	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	272					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCTCGGTAAACAGGCACTCCG	0.488																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(814-816)tGt>tAt		ectonucleoside triphosphate diphosphohydrolase 5							121.0	104.0	109.0					14																	74440651		2203	4300	6503	SO:0001583	missense	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74440651C>T	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.815G>A	14.37:g.74440651C>T	ENSP00000335246:p.Cys272Tyr					ENTPD5_ENST00000557325.1_Missense_Mutation_p.C272Y	p.C272Y	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	12	1134	-			272					A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	c.815G>A	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536062	0.85812	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.54279	0.58;0.58	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88443	0.3043	10	0.87932	D	0	-16.497	17.5631	0.87912	0.0:1.0:0.0:0.0	.	272;272	O75356;G3V4I0	ENTP5_HUMAN;.	Y	272	ENSP00000451810:C272Y;ENSP00000335246:C272Y	ENSP00000335246:C272Y	C	-	2	0	ENTPD5	73510404	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.616000	0.67709	2.822000	0.97130	0.557000	0.71058	TGT		0.488	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		15	52	0	0	0	0.479597	0	15	52				
SRPK2	6733	broad.mit.edu	37	7	104808499	104808499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:104808499G>A	ENST00000393651.3	-	5	469	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	SRPK2_ENST00000489828.1_Missense_Mutation_p.H117Y|SRPK2_ENST00000357311.3_Missense_Mutation_p.H117Y	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCCGTATAATGCTGGGCACTT	0.279																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(349-351)Cat>Tat		SRSF protein kinase 2							40.0	40.0	40.0					7																	104808499		2202	4298	6500	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104808499G>A	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.382C>T	7.37:g.104808499G>A	ENSP00000377262:p.His128Tyr					SRPK2_ENST00000489828.1_Missense_Mutation_p.H117Y|SRPK2_ENST00000393651.3_Missense_Mutation_p.H128Y	p.H117Y	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			4	520	-			117			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.349C>T	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989933	0.93106	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	T;T;T;T;T	0.26518	2.0;2.0;2.0;2.0;1.73	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	N	0.17278	0.47	0.80722	D	1	D;D	0.59357	0.985;0.97	D;D	0.70716	0.965;0.97	T	0.36359	-0.9751	10	0.87932	D	0	-19.044	19.6676	0.95898	0.0:0.0:1.0:0.0	.	128;117	P78362-2;P78362	.;SRPK2_HUMAN	Y	128;117;117;165;117	ENSP00000377262:H128Y;ENSP00000349863:H117Y;ENSP00000419791:H117Y;ENSP00000419240:H165Y;ENSP00000417357:H117Y	ENSP00000349863:H117Y	H	-	1	0	SRPK2	104595735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.743000	0.98849	2.656000	0.90262	0.563000	0.77884	CAT		0.279	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		14	27	0	0	0	0.500413	0	14	27				
VPS35	55737	broad.mit.edu	37	16	46716023	46716023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr16:46716023G>A	ENST00000299138.7	-	3	225	c.167C>T	c.(166-168)tCt>tTt	p.S56F		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	56					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGATAACATAGAAGTCCGGAG	0.338																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(166-168)tCt>tTt		vacuolar protein sorting 35 homolog (S. cerevisiae)							99.0	93.0	95.0					16																	46716023		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46716023G>A	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.167C>T	16.37:g.46716023G>A	ENSP00000299138:p.Ser56Phe						p.S56F	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			3	225	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	56					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.167C>T	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	29.0	4.968157	0.92855	.	.	ENSG00000069329	ENST00000299138	T	0.51071	0.72	4.88	4.88	0.63580	.	0.057034	0.64402	D	0.000001	T	0.71533	0.3351	M	0.92219	3.285	0.80722	D	1	P	0.48350	0.909	P	0.53593	0.73	T	0.80618	-0.1302	10	0.87932	D	0	-11.7599	18.4459	0.90683	0.0:0.0:1.0:0.0	.	56	Q96QK1	VPS35_HUMAN	F	56	ENSP00000299138:S56F	ENSP00000299138:S56F	S	-	2	0	VPS35	45273524	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.405000	0.81733	0.551000	0.68910	TCT		0.338	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			18	35	0	0	0	0.575678	0	18	35				
PRKRA	8575	broad.mit.edu	37	2	179309173	179309173	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:179309173C>T	ENST00000325748.4	-	4	572	c.372G>A	c.(370-372)caG>caA	p.Q124Q	PRKRA_ENST00000432031.2_Silent_p.Q113Q|PRKRA_ENST00000438687.3_Silent_p.Q11Q|PRKRA_ENST00000487082.1_Silent_p.Q99Q|PRKRA_ENST00000470200.1_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	124	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TAGGATTAAGCTGGTTCTTTG	0.358																																					Melanoma(200;68 3001 23825 48764)	ENST00000325748.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(370-372)caG>caA		protein kinase, interferon-inducible double stranded RNA dependent activator							98.0	101.0	100.0					2																	179309173		2203	4300	6503	SO:0001819	synonymous_variant	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179309173C>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.372G>A	2.37:g.179309173C>T						PRKRA_ENST00000487082.1_Silent_p.Q99Q|PRKRA_ENST00000438687.3_Silent_p.Q11Q|PRKRA_ENST00000432031.2_Silent_p.Q113Q	p.Q124Q	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		4	572	-			124			Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Silent	SNP	ENST00000325748.4	37	c.372G>A	CCDS2279.1																																																																																				0.358	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		24	31	0	0	0	0.740014	0	24	31				
OPLAH	26873	broad.mit.edu	37	8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T	rs186909122		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCGCAGGGCCTCCGTCAC	0.647																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2698-2700)gCc>gAc		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						44.0	52.0	50.0					8																	145108284		2081	4210	6291	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145108284G>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2699C>A	8.37:g.145108284G>T	ENSP00000475943:p.Ala900Asp					OPLAH_ENST00000534424.1_5'UTR	p.A900D	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		20	2780	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		900					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2699C>A		.	.	.	.	.	.	.	.	.	.	G	14.54	2.564475	0.45694	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	3.44	0.39384	.	0.106428	0.64402	D	0.000007	T	0.48132	0.1483	.	.	.	0.52099	D	0.999941	B	0.18863	0.031	B	0.25405	0.06	T	0.61317	-0.7087	7	0.62326	D	0.03	.	10.7882	0.46417	0.1156:0.0:0.8844:0.0	.	900	O14841	OPLA_HUMAN	D	900	.	ENSP00000412071:A900D	A	-	2	0	OPLAH	145180272	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.294000	0.51787	2.069000	0.61940	0.448000	0.29417	GCC		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		8	93	1	0	0.00621372	0.335167	0.00658654	8	93				
MPDZ	8777	broad.mit.edu	37	9	13147652	13147652	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr9:13147652A>T	ENST00000319217.7	-	26	3883	c.3636T>A	c.(3634-3636)gaT>gaA	p.D1212E	MPDZ_ENST00000538841.1_Missense_Mutation_p.D104E|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1226E|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1212E|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1212E|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1212E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1212	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGTCCATTCCATCCACCTGCA	0.428																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3634-3636)gaT>gaA		multiple PDZ domain protein							124.0	116.0	118.0					9																	13147652		1906	4118	6024	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13147652A>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3636T>A	9.37:g.13147652A>T	ENSP00000320006:p.Asp1212Glu					MPDZ_ENST00000546205.1_Missense_Mutation_p.D1226E|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1212E|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1212E|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000538841.1_Missense_Mutation_p.D104E	p.D1212E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	26	3883	-			1212			PDZ 7.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3636T>A		.	.	.	.	.	.	.	.	.	.	A	19.30	3.801895	0.70682	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000546205	T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.83	5.83	0.93111	.	0.000000	0.46145	D	0.000307	T	0.46698	0.1406	L	0.46157	1.445	0.80722	D	1	D;P;D;D	0.89917	1.0;0.949;1.0;1.0	D;P;D;D	0.73708	0.979;0.626;0.981;0.981	T	0.43572	-0.9383	10	0.62326	D	0.03	.	11.2739	0.49155	0.9293:0.0:0.0707:0.0	.	1212;104;1212;1212	B7ZMI4;B7ZB24;O75970-3;O75970-2	.;.;.;.	E	1212;1212;1212;104;1212;1212;1212;1226	ENSP00000320006:D1212E;ENSP00000439807:D1212E;ENSP00000370410:D1212E;ENSP00000444717:D104E;ENSP00000444151:D1212E;ENSP00000415208:D1212E;ENSP00000370403:D1212E;ENSP00000446358:D1226E	ENSP00000320006:D1212E	D	-	3	2	MPDZ	13137652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.554000	0.45845	2.226000	0.72624	0.460000	0.39030	GAT		0.428	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		24	19	0	0	0	0.624587	0	24	19				
GPRC5B	51704	broad.mit.edu	37	16	19871833	19871833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr16:19871833G>A	ENST00000300571.2	-	4	1392	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	GPRC5B_ENST00000569102.1_5'Flank|GPRC5B_ENST00000535671.1_Intron|GPRC5B_ENST00000537135.1_Missense_Mutation_p.H427Y|GPRC5B_ENST00000569479.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000569847.1_Missense_Mutation_p.H401Y	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	401					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACCAAAGGTGTCTTCCTGTG	0.443																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1201-1203)Cac>Tac		G protein-coupled receptor, family C, group 5, member B							114.0	102.0	106.0					16																	19871833		2197	4300	6497	SO:0001583	missense	51704							g.chr16:19871833G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1201C>T	16.37:g.19871833G>A	ENSP00000300571:p.His401Tyr					GPRC5B_ENST00000569479.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000537135.1_Missense_Mutation_p.H427Y|GPRC5B_ENST00000569847.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000535671.1_Intron	p.H401Y	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			4	1392	-			401					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1201C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.304978	0.81247	.	.	ENSG00000167191	ENST00000300571;ENST00000538074;ENST00000537135	T;T	0.27256	1.71;1.68	5.34	5.34	0.76211	.	0.140306	0.48767	D	0.000163	T	0.42854	0.1221	L	0.40543	1.245	0.47476	D	0.999433	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.06679	-1.0813	9	.	.	.	.	18.3923	0.90487	0.0:0.0:1.0:0.0	.	427;401	B7Z831;Q9NZH0	.;GPC5B_HUMAN	Y	401;250;427	ENSP00000300571:H401Y;ENSP00000441775:H427Y	.	H	-	1	0	GPRC5B	19779334	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.094000	0.76944	2.637000	0.89404	0.563000	0.77884	CAC		0.443	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			15	33	0	0	0	0.557998	0	15	33				
CILP2	148113	broad.mit.edu	37	19	19655287	19655287	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:19655287G>A	ENST00000291495.5	+	8	2018	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	CILP2_ENST00000586018.1_Missense_Mutation_p.V651M	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	645						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CATGTTCTCCGTGGACCTCCG	0.731																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1951-1953)Gtg>Atg		cartilage intermediate layer protein 2							28.0	33.0	31.0					19																	19655287		2195	4261	6456	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655287G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1933G>A	19.37:g.19655287G>A	ENSP00000291495:p.Val645Met					CILP2_ENST00000291495.4_Missense_Mutation_p.V645M	p.V651M			Q8IUL8	CILP2_HUMAN			8	2053	+			645					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1951G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633583	0.47049	.	.	ENSG00000160161	ENST00000291495	T	0.52526	0.66	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	L	0.44542	1.39	0.53688	D	0.999978	D;D	0.67145	0.996;0.996	P;P	0.58391	0.838;0.791	T	0.51148	-0.8742	10	0.31617	T	0.26	-26.7973	14.923	0.70854	0.0:0.0:1.0:0.0	.	645;645	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	M	645	ENSP00000291495:V645M	ENSP00000291495:V645M	V	+	1	0	CILP2	19516287	1.000000	0.71417	0.980000	0.43619	0.938000	0.57974	6.449000	0.73473	2.107000	0.64212	0.485000	0.47835	GTG		0.731	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		25	43	0	0	0	0.667858	0	25	43				
ALG6	29929	broad.mit.edu	37	1	63879791	63879791	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:63879791G>T	ENST00000371108.4	+	10	1181	c.876G>T	c.(874-876)ttG>ttT	p.L292F	ALG6_ENST00000263440.4_Missense_Mutation_p.L294F	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	292					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGATATTTTGCCACGTCACA	0.284																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(874-876)ttG>ttT		ALG6, alpha-1,3-glucosyltransferase							101.0	107.0	105.0					1																	63879791		2203	4298	6501	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63879791G>T	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.876G>T	1.37:g.63879791G>T	ENSP00000360149:p.Leu292Phe					ALG6_ENST00000263440.4_Missense_Mutation_p.L294F	p.L292F	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			10	1181	+			292					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.876G>T	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	G	6.625	0.483722	0.12581	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	D;D	0.84730	-1.89;-1.89	4.34	3.43	0.39272	.	0.436424	0.22012	N	0.065858	T	0.46328	0.1387	N	0.04162	-0.26	0.47547	D	0.999454	B;B	0.29481	0.245;0.001	B;B	0.35039	0.194;0.006	T	0.47824	-0.9087	10	0.07813	T	0.8	-16.0239	5.8713	0.18805	0.3662:0.0:0.6338:0.0	.	91;294	B4DHV8;A2A2G4	.;.	F	292;294;91	ENSP00000360149:L292F;ENSP00000263440:L294F	ENSP00000263440:L294F	L	+	3	2	ALG6	63652379	1.000000	0.71417	0.993000	0.49108	0.909000	0.53808	1.423000	0.34837	0.934000	0.37316	0.655000	0.94253	TTG		0.284	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		19	45	1	0	3.62473e-10	0.608945	4.5026e-10	19	45				
WDR11	55717	broad.mit.edu	37	10	122612036	122612036	+	Splice_Site	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr10:122612036G>A	ENST00000263461.6	+	2	333	c.87G>A	c.(85-87)tgG>tgA	p.W29*	WDR11-AS1_ENST00000598981.1_RNA	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTTTTGCTAGGGGCTGGCAAG	0.363																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.e2-1		WD repeat domain 11							141.0	140.0	140.0					10																	122612036		2203	4300	6503	SO:0001630	splice_region_variant	55717					integral to membrane		g.chr10:122612036G>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.87-1G>A	10.37:g.122612036G>A							p.W29_splice	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			2	333	+			29					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000263461.6	37	c.86_splice	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	39	7.747878	0.98468	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9772	0.97314	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000263461:W29X	W	+	3	0	WDR11	122602026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.641000	0.91032	2.714000	0.92807	0.650000	0.86243	TGG		0.363	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		Nonsense_Mutation	13	14	0	0	0	0.435327	0	13	14				
DLG1	1739	broad.mit.edu	37	3	196865135	196865135	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:196865135A>C	ENST00000419354.1	-	10	1226	c.940T>G	c.(940-942)Tca>Gca	p.S314A	DLG1_ENST00000314062.3_Missense_Mutation_p.S263A|DLG1_ENST00000346964.2_Missense_Mutation_p.S314A|DLG1_ENST00000443183.1_Missense_Mutation_p.S198A|DLG1_ENST00000357674.4_Missense_Mutation_p.S281A|DLG1_ENST00000452595.1_Missense_Mutation_p.S198A|DLG1_ENST00000450955.1_Missense_Mutation_p.S281A|DLG1_ENST00000448528.2_Missense_Mutation_p.S314A|DLG1_ENST00000392382.2_Missense_Mutation_p.S281A|DLG1_ENST00000422288.1_Missense_Mutation_p.S263A			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	314					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTTTTTCTGACACTGGTTTC	0.338																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(940-942)Tca>Gca		discs, large homolog 1 (Drosophila)							163.0	153.0	157.0					3																	196865135		2203	4299	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196865135A>C	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.940T>G	3.37:g.196865135A>C	ENSP00000407531:p.Ser314Ala					DLG1_ENST00000448528.2_Missense_Mutation_p.S314A|DLG1_ENST00000443183.1_Missense_Mutation_p.S198A|DLG1_ENST00000450955.1_Missense_Mutation_p.S281A|DLG1_ENST00000422288.1_Missense_Mutation_p.S263A|DLG1_ENST00000419354.1_Missense_Mutation_p.S314A|DLG1_ENST00000392382.2_Missense_Mutation_p.S281A|DLG1_ENST00000357674.4_Missense_Mutation_p.S281A|DLG1_ENST00000452595.1_Missense_Mutation_p.S198A|DLG1_ENST00000314062.3_Missense_Mutation_p.S263A	p.S314A	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	10	1129	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	314					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.940T>G	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	A	4.073	0.011382	0.07912	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.4	4.1	0.47936	PDZ/DHR/GLGF (2);	0.139267	0.47455	D	0.000222	T	0.07954	0.0199	N	0.17312	0.475	0.33781	D	0.62426	B;B;B;B;B;B;B	0.11235	0.001;0.0;0.0;0.0;0.0;0.0;0.004	B;B;B;B;B;B;B	0.12837	0.008;0.001;0.001;0.001;0.003;0.001;0.004	T	0.19321	-1.0309	10	0.02654	T	1	.	8.1222	0.30978	0.6525:0.0:0.0:0.3475	.	281;198;198;198;281;314;314	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	A	314;314;281;314;263;314;198;263;314;198;281;281;123	ENSP00000345731:S314A;ENSP00000350303:S281A;ENSP00000321087:S263A;ENSP00000407531:S314A;ENSP00000398939:S198A;ENSP00000413238:S263A;ENSP00000391732:S314A;ENSP00000396658:S198A;ENSP00000376187:S281A;ENSP00000411278:S281A;ENSP00000398702:S123A	ENSP00000321087:S263A	S	-	1	0	DLG1	198349532	0.710000	0.27896	1.000000	0.80357	0.994000	0.84299	1.291000	0.33330	2.165000	0.68154	0.460000	0.39030	TCA		0.338	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		69	44	0	0	0	0.870114	0	69	44				
RHOJ	57381	broad.mit.edu	37	14	63671683	63671683	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:63671683G>C	ENST00000316754.3	+	1	558	c.96G>C	c.(94-96)gtG>gtC	p.V32V	RHOJ_ENST00000555125.1_Silent_p.V32V|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	32					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACGGTGCCGTGGGGAAAACCT	0.547																																						ENST00000316754.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21						c.(94-96)gtG>gtC		ras homolog family member J							130.0	98.0	109.0					14																	63671683		2203	4300	6503	SO:0001819	synonymous_variant	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63671683G>C	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.96G>C	14.37:g.63671683G>C						RHOJ_ENST00000555125.1_Silent_p.V32V|RHOJ_ENST00000557133.1_3'UTR	p.V32V	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	1	558	+			32					Q96KC1	Silent	SNP	ENST00000316754.3	37	c.96G>C	CCDS9757.1																																																																																				0.547	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			17	21	0	0	0	0.539581	0	17	21				
UNC79	57578	broad.mit.edu	37	14	94158111	94158111	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:94158111T>C	ENST00000393151.2	+	47	7406	c.7406T>C	c.(7405-7407)aTg>aCg	p.M2469T	UNC79_ENST00000553484.1_Missense_Mutation_p.M2491T|UNC79_ENST00000256339.4_Missense_Mutation_p.M2292T|UNC79_ENST00000555664.1_Missense_Mutation_p.M2430T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2469					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGCTGCACATGTGCTCCCTC	0.532																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7471-7473)aTg>aCg		unc-79 homolog (C. elegans)							137.0	113.0	121.0					14																	94158111		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94158111T>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7406T>C	14.37:g.94158111T>C	ENSP00000376858:p.Met2469Thr					UNC79_ENST00000555664.1_Missense_Mutation_p.M2430T|UNC79_ENST00000256339.4_Missense_Mutation_p.M2292T|UNC79_ENST00000393151.2_Missense_Mutation_p.M2469T	p.M2491T			Q9P2D8	UNC79_HUMAN			48	7626	+			2469					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7472T>C		.	.	.	.	.	.	.	.	.	.	T	17.57	3.423652	0.62733	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.24723	1.85;1.88;1.84;1.85	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.73962	2.25	0.80722	D	1	B	0.29508	0.246	B	0.34138	0.176	T	0.24297	-1.0164	10	0.87932	D	0	-23.0879	16.1264	0.81397	0.0:0.0:0.0:1.0	.	2491	C9JQL1	.	T	2292;2430;2491;2469;2491	ENSP00000256339:M2292T;ENSP00000450868:M2430T;ENSP00000451360:M2491T;ENSP00000376858:M2469T	ENSP00000256339:M2292T	M	+	2	0	KIAA1409	93227864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.202000	0.70862	0.533000	0.62120	ATG		0.532	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	53	0	0	0	0.278610	0	7	53				
GH2	2689	broad.mit.edu	37	17	61958159	61958159	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:61958159T>C	ENST00000423893.2	-	4	490	c.429A>G	c.(427-429)ctA>ctG	p.L143L	GH2_ENST00000332800.7_Silent_p.L143L|GH2_ENST00000456543.2_Silent_p.L143L|GH2_ENST00000449787.2_Silent_p.L128L			P01242	SOM2_HUMAN	growth hormone 2	143					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGCCTTCCTCTAGGTCCTTCA	0.617																																						ENST00000332800.7																			0				breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(427-429)ctA>ctG		growth hormone 2							88.0	85.0	86.0					17																	61958159		2203	4300	6503	SO:0001819	synonymous_variant	2689					extracellular region	hormone activity	g.chr17:61958159T>C	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.429A>G	17.37:g.61958159T>C						GH2_ENST00000449787.2_Silent_p.L128L|GH2_ENST00000423893.2_Silent_p.L143L|GH2_ENST00000456543.2_Silent_p.L143L	p.L143L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			4	562	-			143					B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	ENST00000423893.2	37	c.429A>G	CCDS11647.1																																																																																				0.617	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		39	71	0	0	0	0.827153	0	39	71				
FAM101A	144347	broad.mit.edu	37	12	124799005	124799005	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:124799005C>T	ENST00000389727.3	+	3	585	c.585C>T	c.(583-585)acC>acT	p.T195T	FAM101A_ENST00000324038.3_Silent_p.T114T|FAM101A_ENST00000546355.1_Silent_p.T114T|FAM101A_ENST00000338359.4_Silent_p.T114T			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	195										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCTGGTTCACCGCCAGCGTGC	0.711																																						ENST00000324038.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(340-342)acC>acT		family with sequence similarity 101, member A							18.0	20.0	20.0					12																	124799005		2172	4248	6420	SO:0001819	synonymous_variant	144347							g.chr12:124799005C>T		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.585C>T	12.37:g.124799005C>T						FAM101A_ENST00000338359.4_Silent_p.T114T|FAM101A_ENST00000389727.3_Silent_p.T195T|FAM101A_ENST00000546355.1_Silent_p.T114T	p.T114T	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	585	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		195					A5D8T5	Silent	SNP	ENST00000389727.3	37	c.342C>T																																																																																					0.711	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		4	12	0	0	0	0.307466	0	4	12				
FAT2	2196	broad.mit.edu	37	5	150924395	150924395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr5:150924395T>C	ENST00000261800.5	-	9	6305	c.6293A>G	c.(6292-6294)gAc>gGc	p.D2098G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2098	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCCCCAAGTCCTCATCAGT	0.448																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6292-6294)gAc>gGc		FAT atypical cadherin 2							122.0	127.0	125.0					5																	150924395		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924395T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6293A>G	5.37:g.150924395T>C	ENSP00000261800:p.Asp2098Gly						p.D2098G	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6305	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2098			Cadherin 18.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6293A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004394	0.74932	.	.	ENSG00000086570	ENST00000261800	T	0.74632	-0.86	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.91472	0.7308	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94464	0.7679	10	0.72032	D	0.01	.	15.8411	0.78845	0.0:0.0:0.0:1.0	.	2098	Q9NYQ8	FAT2_HUMAN	G	2098	ENSP00000261800:D2098G	ENSP00000261800:D2098G	D	-	2	0	FAT2	150904588	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.967000	0.87967	2.147000	0.66899	0.459000	0.35465	GAC		0.448	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		49	18	0	0	0	0.870114	0	49	18				
INTS5	80789	broad.mit.edu	37	11	62414590	62414590	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:62414590G>A	ENST00000330574.2	-	2	3014	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	988					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACACTGTGCAGCACAGCCAGA	0.602																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2962-2964)Ctg>Ttg		integrator complex subunit 5							125.0	109.0	114.0					11																	62414590		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414590G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2962C>T	11.37:g.62414590G>A							p.L988L	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	3014	-			988					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2962C>T	CCDS8027.1																																																																																				0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		4	148	0	0	0	0.150653	0	4	148				
PRKCG	5582	broad.mit.edu	37	19	54409991	54409991	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:54409991T>C	ENST00000263431.3	+	18	2218	c.1936T>C	c.(1936-1938)Ttc>Ctc	p.F646L	PRKCG_ENST00000540413.1_Missense_Mutation_p.F646L|CACNG7_ENST00000391767.1_5'Flank|PRKCG_ENST00000542049.1_Missense_Mutation_p.F497L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	646	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CTTTGACAAGTTCTTCACGCG	0.647											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(1936-1938)Ttc>Ctc		protein kinase C, gamma							53.0	58.0	57.0					19																	54409991		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54409991T>C	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1936T>C	19.37:g.54409991T>C	ENSP00000263431:p.Phe646Leu		OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	PRKCG_ENST00000542049.1_Missense_Mutation_p.F497L|PRKCG_ENST00000540413.1_Missense_Mutation_p.F646L	p.F646L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	18	2218	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		646			AGC-kinase C-terminal.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1936T>C	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.864781	0.71949	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.57107	0.42;0.42;0.42	4.43	3.39	0.38822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	.	.	.	.	T	0.48132	0.1483	M	0.75447	2.3	0.43988	D	0.996681	B;B;B	0.33345	0.409;0.325;0.067	B;B;B	0.30572	0.117;0.062;0.066	T	0.36841	-0.9731	9	0.30078	T	0.28	.	8.7836	0.34807	0.1689:0.0:0.0:0.8311	.	497;646;646	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	L	646;646;497	ENSP00000443493:F646L;ENSP00000263431:F646L;ENSP00000438090:F497L	ENSP00000263431:F646L	F	+	1	0	PRKCG	59101803	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.386000	0.66238	0.653000	0.30826	0.459000	0.35465	TTC		0.647	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		3	125	0	0	0	0.150653	0	3	125				
TET3	200424	broad.mit.edu	37	2	74274034	74274049	+	Frame_Shift_Del	DEL	GATCTCTCCCCAAGAG	GATCTCTCCCCAAGAG	-	rs577926038	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:74274034_74274049delGATCTCTCCCCAAGAG	ENST00000409262.3	+	1	585_600	c.585_600delGATCTCTCCCCAAGAG	c.(583-600)cagatctctccccaagagfs	p.QISPQE195fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	195					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTGCCCCAGATCTCTCCCCAAGAGGGCCTGCCCC	0.644																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(583-600)cafs		tet methylcytosine dioxygenase 3																																				SO:0001589	frameshift_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274034_74274049delGATCTCTCCCCAAGAG		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.585_600delGATCTCTCCCCAAGAG	2.37:g.74274034_74274049delGATCTCTCCCCAAGAG	ENSP00000386869:p.Gln195fs						p.QISPQE195fs	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	585_600	+			195					A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	ENST00000409262.3	37	c.585_600delGATCTCTCCCCAAGAG	CCDS46339.1																																																																																				0.644	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			13	16						13	16	---	---	---	---
PPP1R1C	151242	broad.mit.edu	37	2	182981993	182981993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:182981993delA	ENST00000409137.3	+	5	544	c.301delA	c.(301-303)aatfs	p.N101fs	PPP1R1C_ENST00000452904.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000280295.3_Frame_Shift_Del_p.N108fs|PPP1R1C_ENST00000409702.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000475249.1_Intron	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	101					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AGAAGGCACCAATGAAAGAGA	0.368																																						ENST00000409137.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6						c.(301-303)atfs		protein phosphatase 1, regulatory (inhibitor) subunit 1C							43.0	47.0	46.0					2																	182981993		1895	4106	6001	SO:0001589	frameshift_variant	151242				signal transduction	cytoplasm	protein phosphatase inhibitor activity	g.chr2:182981993delA	AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.301delA	2.37:g.182981993delA	ENSP00000386359:p.Asn101fs					PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000280295.3_Frame_Shift_Del_p.N108fs|PPP1R1C_ENST00000452904.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000409702.1_Frame_Shift_Del_p.N101fs	p.N101fs	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0628)		5	544	+			101					Q5HYJ5|Q8TD54	Frame_Shift_Del	DEL	ENST00000409137.3	37	c.301delA	CCDS46468.1																																																																																				0.368	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	NM_001080545		2	4						2	4	---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130743569	130743570	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:130743569_130743570insG	ENST00000264992.3	-	3	1022_1023	c.581_582insC	c.(580-582)cctfs	p.P194fs	ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.P194fs|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000429253.2_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	194					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AGCATTTGGCAGGGATATAGTT	0.396																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(580-582)cgcfs		asteroid homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	28990				DNA repair		nuclease activity	g.chr3:130743569_130743570insG	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.582dupC	3.37:g.130743572_130743572dupG	ENSP00000264992:p.Pro194fs					ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R194fs	p.R194fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	1022_1023	-			194					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS	ENST00000264992.3	37	c.581_582insC	CCDS3068.1																																																																																				0.396	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		34	84						34	84	---	---	---	---
LINC01098	285501	broad.mit.edu	37	4	178897080	178897081	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:178897080_178897081insT	ENST00000507870.1	+	5	745_746	c.283_284insT	c.(283-285)attfs	p.I95fs																	lung(8)|prostate(1)	9						TCTGAAGTATATTTTTTCTAAA	0.376																																						ENST00000507870.1																			0				lung(8)|prostate(1)	9						c.(283-285)tttfs																																						SO:0001589	frameshift_variant	285501							g.chr4:178897080_178897081insT																												ENST00000507870.1:c.289dupT	4.37:g.178897086_178897086dupT	ENSP00000421352:p.Ile95fs						p.F95fs							5	745_746	+									Frame_Shift_Ins	INS	ENST00000507870.1	37	c.283_284insT																																																																																					0.376	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1			31	65						31	65	---	---	---	---
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs71815788|rs55736770	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)caadel	p.Q95del	TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567																																						ENST00000392092.2																			3	Deletion - In frame(3)	p.Q72del(3)	ovary(1)|prostate(1)|breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(214-216)del		TATA box binding protein																																				SO:0001651	inframe_deletion	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871038_170871040delCAA	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.214_216delCAA	6.37:g.170871038_170871040delCAA	ENSP00000375942:p.Gln95del					TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	493_495	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	95		Missing.	Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	c.214_216delCAA	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		22	36						22	36	---	---	---	---
POR	5447	broad.mit.edu	37	7	75614935	75614935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:75614935delG	ENST00000461988.1	+	13	1542	c.1437delG	c.(1435-1437)gtgfs	p.V479fs	POR_ENST00000439269.1_Frame_Shift_Del_p.V217fs|POR_ENST00000450476.1_Frame_Shift_Del_p.V378fs|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000545601.1_Frame_Shift_Del_p.V287fs|POR_ENST00000394893.1_Frame_Shift_Del_p.V479fs|POR_ENST00000419840.1_Frame_Shift_Del_p.V293fs	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	476	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CGGTGGTTGTGGAGTACGAGA	0.697																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(1435-1437)gtfs		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						16.0	18.0	17.0					7																	75614935		2077	4180	6257	SO:0001589	frameshift_variant	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75614935delG	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1437delG	7.37:g.75614935delG	ENSP00000419970:p.Val479fs					POR_ENST00000461988.1_Frame_Shift_Del_p.V479fs|POR_ENST00000439269.1_Frame_Shift_Del_p.V217fs|POR_ENST00000450476.1_Frame_Shift_Del_p.V378fs|POR_ENST00000419840.1_Frame_Shift_Del_p.V293fs|POR_ENST00000545601.1_Frame_Shift_Del_p.V287fs	p.V479fs			P16435	NCPR_HUMAN			13	1457	+			476			FAD-binding FR-type.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Frame_Shift_Del	DEL	ENST00000461988.1	37	c.1437delG	CCDS5579.1																																																																																				0.697	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		2	4						2	4	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs190828070|rs71454096|rs71025763|rs144216147|rs369130959	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggaggctgtgggggctgtggctccggctgtgcg>ggg	p.GCGGCGSGCA44del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-159)ggg>gg		keratin associated protein 5-5				1550,180,1680		393,53,711,32,63,453						3.0	0.7		dbSNP_130	23	2914,455,3725		670,91,1483,84,196,1023	no	codingComplex	KRTAP5-5	NM_001001480.2		1063,144,2194,116,259,1476	A1A1,A1A2,A1R,A2A2,A2R,RR		47.4908,50.7331,48.5434				4464,635,5405				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	11.37:g.1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENSP00000382584:p.Gly44_Ala53del						p.GGCGGCGSGCA43del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_196	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	CCDS41592.1																																																																																				0.691	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			31	7						31	7	---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58956754	58956755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:58956754_58956755insC	ENST00000227451.3	+	4	1221_1222	c.1117_1118insC	c.(1117-1119)tccfs	p.S373fs	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Frame_Shift_Ins_p.S267fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	373					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCCAGGGGTTTCCAACACAAGC	0.554																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1117-1119)caafs		deltex homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58956754_58956755insC	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1119dupC	11.37:g.58956756_58956756dupC	ENSP00000227451:p.Ser373fs					DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Frame_Shift_Ins_p.Q267fs	p.Q373fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			4	1221_1222	+		all_epithelial(135;0.125)	373					Q0VF38	Frame_Shift_Ins	INS	ENST00000227451.3	37	c.1117_1118insC	CCDS44612.1																																																																																				0.554	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		2	4						2	4	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71029580	71029580	+	IGR	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:71029580delA	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Frame_Shift_Del_p.S108fs|PTPRB_ENST00000551525.1_Frame_Shift_Del_p.S107fs|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000550358.1_Frame_Shift_Del_p.S108fs|PTPRB_ENST00000538174.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGAAAGAGAGAGGCATTTTCC	0.532																																						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.(322-324)ctfs		protein tyrosine phosphatase, receptor type, B							54.0	51.0	52.0					12																	71029580		1904	4123	6027	SO:0001628	intergenic_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029580delA	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029580delA						PTPRB_ENST00000551525.1_Frame_Shift_Del_p.S107fs|PTPRB_ENST00000550358.1_Frame_Shift_Del_p.S108fs|PTPRB_ENST00000538174.2_5'UTR	p.S108fs	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)		2	366	-	Renal(347;0.236)		0			Fibronectin type-III 1.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Frame_Shift_Del	DEL	ENST00000283228.2	37	c.322delT	CCDS8998.1																																																																																				0.532	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		18	16						18	16	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			7	14						7	14	---	---	---	---
TRDC	28526	broad.mit.edu	37	14	22933391	22933391	+	RNA	DEL	C	C	-	rs36090939	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:22933391delC	ENST00000390477.2	+	0	465				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											TTAGAAATGGCTAAGAAACCA	0.408													-|C|-|insertion	491	0.0980431	0.1067	0.1167	5008	,	,		20151	0.005		0.1541	False		,,,				2504	0.1115					ENST00000514473.2																			0																																																			0							g.chr14:22933391delC	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22933391delC						AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA								0	225	-									RNA	DEL	ENST00000390477.2	37																																																																																						0.408	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		6	3						6	3	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23450638	23450639	+	Frame_Shift_Ins	INS	-	-	C	rs201376254		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:23450638_23450639insC	ENST00000262713.2	-	1	1212_1213	c.837_838insG	c.(835-840)gagctafs	p.L280fs	RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.L280fs|RP11-298I3.4_ENST00000556503.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	280	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										AAAGCTGTTAGCTCGTCCTGGT	0.713																																						ENST00000262713.2																			0											c.(835-840)gataacfs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450638_23450639insC	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.838dupG	14.37:g.23450639_23450639dupC	ENSP00000262713:p.Leu280fs					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.DN279fs	p.DN279fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	1212_1213	-			279			PreLIM.		A8MX18|D3DS37	Frame_Shift_Ins	INS	ENST00000262713.2	37	c.837_838insG	CCDS9581.1																																																																																				0.713	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			15	7						15	7	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691797	106691799	+	RNA	DEL	TAA	TAA	-	rs538335553	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:106691797_106691799delTAA	ENST00000390607.2	-	0	303_305									immunoglobulin heavy variable 3-21																		GTAGTATATGTAACTACTACTAC	0.517																																						ENST00000390607.2																			0																																																			28444							g.chr14:106691797_106691799delTAA	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691797_106691799delTAA														0	303_305	-									RNA	DEL	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		8	209						8	209	---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78917347	78917348	+	3'UTR	INS	-	-	G	rs143826466		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:78917347_78917348insG	ENST00000261751.3	-	0	1735_1736				RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Frame_Shift_Ins_p.S216fs	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)						action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CGGCTGTGGCTGGTTTGATGGG	0.574																																						ENST00000412074.2																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(643-648)acgccafs		cholinergic receptor, nicotinic, beta 4 (neuronal)																																				SO:0001624	3_prime_UTR_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78917347_78917348insG	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.*128->C	15.37:g.78917349_78917349dupG						CHRNB4_ENST00000261751.3_3'UTR	p.P216fs	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN			5	756_757	-			0					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Frame_Shift_Ins	INS	ENST00000261751.3	37	c.645_646insC	CCDS10306.1																																																																																				0.574	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			4	6						4	6	---	---	---	---
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	Intron	DEL	AGG	AGG	-	rs146708566		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:47302390_47302392delAGG	ENST00000310544.4	-	3	173				PHOSPHO1_ENST00000413580.1_In_Frame_Del_p.S32del|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.S32del			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.7																																						ENST00000413580.1																			0											c.(94-99)tgc>t		phosphatase, orphan 1	Choline(DB00122)		,	46,3118		1,44,1537					,	-2.0	0.2		dbSNP_134	3	213,6201		29,155,3023	no	intron,coding	PHOSPHO1	NM_178500.3,NM_001143804.1	,	30,199,4560	A1A1,A1R,RR		3.3209,1.4539,2.7041	,	,		259,9319				SO:0001627	intron_variant	162466				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47302390_47302392delAGG	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.46-24CCT>-	17.37:g.47302399_47302401delAGG						PHOSPHO1_ENST00000310544.4_Intron|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del	p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	512_514	-			0					E9PAM0|Q17RU6	In_Frame_Del	DEL	ENST00000310544.4	37	c.95_97delCCT	CCDS11547.1																																																																																				0.700	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			3	3						3	3	---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44778149	44778232	+	In_Frame_Del	DEL	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	-	rs142680472|rs377662786|rs143949039|rs367919579|rs201818973|rs139501263|rs138726857|rs576117722|rs147348991	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	ENST00000391958.2	+	5	1463_1546	c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	c.(1336-1419)cacactggagagaaaccatataaatgtgaggtatgtgataagggcttcagtaaggcctcaaatcttcaagcccatcagagaatcdel	p.HTGEKPYKCEVCDKGFSKASNLQAHQRI446del	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_In_Frame_Del_p.HTGEKPYKCEVCDKGFSKASNLQAHQRI428del|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCAGAGAGTTCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATCCACACTGGAG	0.437																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1336-1419)del		zinc finger protein 233			,	417,3845		16,385,1730					,	-2.0	0.0			81	11,8243		0,11,4116	no	coding,coding	ZNF233	NM_181756.2,NM_001207005.1	,	16,396,5846	A1A1,A1R,RR		0.1333,9.7841,3.4196	,	,		428,12088				SO:0001651	inframe_deletion	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	19.37:g.44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	ENSP00000375820:p.His446_Ile473del					ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_In_Frame_Del_p.HTGEKPYKCEVCDKGFSKASNLQAHQRI428del	p.HTGEKPYKCEVCDKGFSKASNLQAHQRI446del	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1463_1546	+		Prostate(69;0.0435)|all_neural(266;0.226)	446					B2RN78|B2RN79|Q86WL8	In_Frame_Del	DEL	ENST00000391958.2	37	c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	CCDS33047.1																																																																																				0.437	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		18	48						18	48	---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680095	4680118	+	In_Frame_Del	DEL	CATGGTGGTGGCTGGGGACAGCCT	CATGGTGGTGGCTGGGGACAGCCT	-	rs138688873|rs62637686|rs62643364	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:4680095_4680118delCATGGTGGTGGCTGGGGACAGCCT	ENST00000379440.4	+	2	516_539	c.229_252delCATGGTGGTGGCTGGGGACAGCCT	c.(229-252)catggtggtggctggggacagcctdel	p.HGGGWGQP77del	PRNP_ENST00000430350.2_In_Frame_Del_p.HGGGWGQP77del	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	8						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						GGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTG	0.652																																						ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						c.(229-252)del		prion protein	Tetracycline(DB00759)		,,,,	749,3441		104,541,1450					,,,,	-3.2	0.6		dbSNP_134	21	428,7764		97,234,3765	no	coding,coding,coding,coding,coding	PRNP	NM_183079.2,NM_001080123.1,NM_001080122.1,NM_001080121.1,NM_000311.3	,,,,	201,775,5215	A1A1,A1R,RR		5.2246,17.8759,9.5057	,,,,	,,,,		1177,11205				SO:0001651	inframe_deletion	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680095_4680118delCATGGTGGTGGCTGGGGACAGCCT	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.229_252delCATGGTGGTGGCTGGGGACAGCCT	20.37:g.4680095_4680118delCATGGTGGTGGCTGGGGACAGCCT	ENSP00000368752:p.His77_Pro84del					PRNP_ENST00000430350.2_In_Frame_Del_p.HGGGWGQP77del	p.HGGGWGQP77del	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	516_539	+			77			5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|Interaction with GRB2, ERI3 and SYN1 (By similarity).			In_Frame_Del	DEL	ENST00000379440.4	37	c.229_252delCATGGTGGTGGCTGGGGACAGCCT	CCDS13080.1																																																																																				0.652	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		45	37						45	37	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194930	28194931	+	In_Frame_Ins	INS	-	-	TGT			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:28194930_28194931insTGT	ENST00000302326.4	-	1	2555_2556	c.1601_1602insACA	c.(1600-1602)cag>caACAg	p.534_534Q>QQ		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	534	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q550_R551insQ(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgttgctgctg	0.649			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		1	Insertion - In frame(1)	p.Q550_R551insQ(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1600-1602)cca>cACAca		meningioma (disrupted in balanced translocation) 1																																				SO:0001652	inframe_insertion	4330						binding	g.chr22:28194930_28194931insTGT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1599_1601dupACA	22.37:g.28194931_28194933dupTGT	ENSP00000304956:p.Gln550dup						p.534_534P>HT	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2555_2556	-			534			Poly-Gln.		A9Z1V9	In_Frame_Ins	INS	ENST00000302326.4	37	c.1601_1602insACA	CCDS42998.1																																																																																				0.649	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		5	6						5	6	---	---	---	---
TFAP2E	339488	broad.mit.edu	37	1	36039564	36039565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:36039564_36039565insC	ENST00000373235.3	+	2	272_273	c.64_65insC	c.(64-66)gccfs	p.A22fs	RP4-728D4.2_ENST00000425881.1_RNA|RP4-728D4.2_ENST00000444348.1_RNA	NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGCCGGCGGGGCCCGCCTGTCG	0.733																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(64-66)ccgfs		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)																																				SO:0001589	frameshift_variant	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36039564_36039565insC	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.67dupC	1.37:g.36039567_36039567dupC	ENSP00000362332:p.Ala22fs					RP4-728D4.2_ENST00000444348.1_RNA	p.P22fs	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			2	272_273	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	22			Gln/Pro-rich (transactivation domain).			Frame_Shift_Ins	INS	ENST00000373235.3	37	c.64_65insC	CCDS393.2																																																																																				0.733	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		3	5						3	5	---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85040025	85040033	+	In_Frame_Del	DEL	AGCAGCGCT	AGCAGCGCT	-	rs201734152	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:85040025_85040033delAGCAGCGCT	ENST00000370630.5	-	1	114_122	c.66_74delAGCGCTGCT	c.(64-75)ctagcgctgctg>ctg	p.22_25LALL>L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	22					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		cagcagcgccagcagcgcTAGACCCGGGA	0.718																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(64-75)ctg>ct		chitobiase, di-N-acetyl-				474,2688		69,336,1176							0.0		dbSNP_106	4	941,5573		128,685,2444	no	coding	CTBS	NM_004388.2		197,1021,3620	A1A1,A1R,RR		14.4458,14.9905,14.6238				1415,8261				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85040025_85040033delAGCAGCGCT	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.66_74delAGCGCTGCT	1.37:g.85040025_85040033delAGCAGCGCT	ENSP00000359664:p.Leu31_Leu33del					CTBS_ENST00000477677.1_5'UTR	p.LALL22del	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	114_122	-			22					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.66_74delAGCGCTGCT	CCDS698.1																																																																																				0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		7	6						7	6	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(241-243)acc>AGCAGCacc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.236_241dupAGCAGC	1.37:g.154842200_154842205dupGCTGCT	ENSP00000271915:p.Gln79_Gln80dup						p.80_81insSS	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	556_557	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGCAGC	CCDS30880.1																																																																																				0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	5						3	5	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74274034	74274049	+	Frame_Shift_Del	DEL	GATCTCTCCCCAAGAG	GATCTCTCCCCAAGAG	-	rs577926038	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:74274034_74274049delGATCTCTCCCCAAGAG	ENST00000409262.3	+	1	585_600	c.585_600delGATCTCTCCCCAAGAG	c.(583-600)cagatctctccccaagagfs	p.QISPQE195fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	195					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTGCCCCAGATCTCTCCCCAAGAGGGCCTGCCCC	0.644																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(583-600)cafs		tet methylcytosine dioxygenase 3																																				SO:0001589	frameshift_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274034_74274049delGATCTCTCCCCAAGAG		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.585_600delGATCTCTCCCCAAGAG	2.37:g.74274034_74274049delGATCTCTCCCCAAGAG	ENSP00000386869:p.Gln195fs						p.QISPQE195fs	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	585_600	+			195					A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	ENST00000409262.3	37	c.585_600delGATCTCTCCCCAAGAG	CCDS46339.1																																																																																				0.644	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			13	16						13	16	---	---	---	---
PPP1R1C	151242	broad.mit.edu	37	2	182981993	182981993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:182981993delA	ENST00000409137.3	+	5	544	c.301delA	c.(301-303)aatfs	p.N101fs	PPP1R1C_ENST00000452904.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000280295.3_Frame_Shift_Del_p.N108fs|PPP1R1C_ENST00000409702.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000475249.1_Intron	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	101					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AGAAGGCACCAATGAAAGAGA	0.368																																						ENST00000409137.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6						c.(301-303)atfs		protein phosphatase 1, regulatory (inhibitor) subunit 1C							43.0	47.0	46.0					2																	182981993		1895	4106	6001	SO:0001589	frameshift_variant	151242				signal transduction	cytoplasm	protein phosphatase inhibitor activity	g.chr2:182981993delA	AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.301delA	2.37:g.182981993delA	ENSP00000386359:p.Asn101fs					PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000409702.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000280295.3_Frame_Shift_Del_p.N108fs	p.N101fs	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0628)		5	544	+			101					Q5HYJ5|Q8TD54	Frame_Shift_Del	DEL	ENST00000409137.3	37	c.301delA	CCDS46468.1																																																																																				0.368	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	NM_001080545		2	4						2	4	---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130743569	130743570	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:130743569_130743570insG	ENST00000264992.3	-	3	1022_1023	c.581_582insC	c.(580-582)cctfs	p.P194fs	ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.P194fs|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000429253.2_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	194					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AGCATTTGGCAGGGATATAGTT	0.396																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(580-582)cgcfs		asteroid homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	28990				DNA repair		nuclease activity	g.chr3:130743569_130743570insG	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.582dupC	3.37:g.130743572_130743572dupG	ENSP00000264992:p.Pro194fs					ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R194fs	p.R194fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	1022_1023	-			194					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS	ENST00000264992.3	37	c.581_582insC	CCDS3068.1																																																																																				0.396	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		34	84						34	84	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157100396	157100397	+	In_Frame_Ins	INS	-	-	CGC	rs572236007	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr6:157100396_157100397insCGC	ENST00000350026.5	+	1	1334_1335	c.1333_1334insCGC	c.(1333-1335)gcg>gCGCcg	p.450_451insP	RP11-230C9.2_ENST00000603191.1_lincRNA|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000275248.4_In_Frame_Ins_p.392_393insP|ARID1B_ENST00000367148.1_In_Frame_Ins_p.450_451insP|ARID1B_ENST00000346085.5_In_Frame_Ins_p.450_451insP|RP11-230C9.3_ENST00000604792.1_RNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	450	Ala-rich.		P -> PP. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCCCAGCGCGCCGCCGCCG	0.787														126	0.0251597	0.0068	0.0519	5008	,	,		3321	0.0		0.0676	False		,,,				2504	0.0133					ENST00000346085.5																			1	Insertion - In frame(1)	p.P392_S393insP(1)	prostate(1)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1333-1335)gcc>CGCgcc		AT rich interactive domain 1B (SWI1-like)			,	13,1303		3,7,648					,	2.2	1.0			4	150,3080		29,92,1494	no	coding,coding	ARID1B	NM_020732.3,NM_017519.2	,	32,99,2142	A1A1,A1R,RR		4.644,0.9878,3.5856	,	,		163,4383				SO:0001652	inframe_insertion	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157100396_157100397insCGC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1346_1348dupCGC	6.37:g.157100403_157100405dupCGC	ENSP00000055163:p.Pro450_Pro450dup					ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR	p.444_445insR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	1	1334_1335	+		Breast(66;0.000162)|Ovarian(120;0.0265)	444			Ala-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	In_Frame_Ins	INS	ENST00000350026.5	37	c.1333_1334insCGC	CCDS5251.2																																																																																				0.787	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		5	9						5	9	---	---	---	---
POR	5447	broad.mit.edu	37	7	75614935	75614935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:75614935delG	ENST00000461988.1	+	13	1542	c.1437delG	c.(1435-1437)gtgfs	p.V479fs	POR_ENST00000439269.1_Frame_Shift_Del_p.V217fs|POR_ENST00000450476.1_Frame_Shift_Del_p.V378fs|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000545601.1_Frame_Shift_Del_p.V287fs|POR_ENST00000394893.1_Frame_Shift_Del_p.V479fs|POR_ENST00000419840.1_Frame_Shift_Del_p.V293fs	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	476	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CGGTGGTTGTGGAGTACGAGA	0.697																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(1435-1437)gtfs		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						16.0	18.0	17.0					7																	75614935		2077	4180	6257	SO:0001589	frameshift_variant	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75614935delG	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1437delG	7.37:g.75614935delG	ENSP00000419970:p.Val479fs					POR_ENST00000461988.1_Frame_Shift_Del_p.V479fs|POR_ENST00000419840.1_Frame_Shift_Del_p.V293fs|POR_ENST00000439269.1_Frame_Shift_Del_p.V217fs|POR_ENST00000450476.1_Frame_Shift_Del_p.V378fs|POR_ENST00000545601.1_Frame_Shift_Del_p.V287fs	p.V479fs			P16435	NCPR_HUMAN			13	1457	+			476			FAD-binding FR-type.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Frame_Shift_Del	DEL	ENST00000461988.1	37	c.1437delG	CCDS5579.1																																																																																				0.697	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		2	4						2	4	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		2	4						2	4	---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58956754	58956755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:58956754_58956755insC	ENST00000227451.3	+	4	1221_1222	c.1117_1118insC	c.(1117-1119)tccfs	p.S373fs	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Frame_Shift_Ins_p.S267fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	373					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCCAGGGGTTTCCAACACAAGC	0.554																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1117-1119)caafs		deltex homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58956754_58956755insC	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1119dupC	11.37:g.58956756_58956756dupC	ENSP00000227451:p.Ser373fs					DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Frame_Shift_Ins_p.Q267fs	p.Q373fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			4	1221_1222	+		all_epithelial(135;0.125)	373					Q0VF38	Frame_Shift_Ins	INS	ENST00000227451.3	37	c.1117_1118insC	CCDS44612.1																																																																																				0.554	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		2	4						2	4	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71029580	71029580	+	IGR	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:71029580delA	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Frame_Shift_Del_p.S108fs|PTPRB_ENST00000551525.1_Frame_Shift_Del_p.S107fs|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000550358.1_Frame_Shift_Del_p.S108fs|PTPRB_ENST00000538174.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGAAAGAGAGAGGCATTTTCC	0.532																																						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.(322-324)ctfs		protein tyrosine phosphatase, receptor type, B							54.0	51.0	52.0					12																	71029580		1904	4123	6027	SO:0001628	intergenic_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029580delA	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029580delA						PTPRB_ENST00000551525.1_Frame_Shift_Del_p.S107fs|PTPRB_ENST00000550358.1_Frame_Shift_Del_p.S108fs|PTPRB_ENST00000538174.2_5'UTR	p.S108fs	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)		2	366	-	Renal(347;0.236)		0			Fibronectin type-III 1.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Frame_Shift_Del	DEL	ENST00000283228.2	37	c.322delT	CCDS8998.1																																																																																				0.532	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		18	16						18	16	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23450638	23450639	+	Frame_Shift_Ins	INS	-	-	C	rs201376254		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:23450638_23450639insC	ENST00000262713.2	-	1	1212_1213	c.837_838insG	c.(835-840)gagctafs	p.L280fs	RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.L280fs|RP11-298I3.4_ENST00000556503.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	280	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										AAAGCTGTTAGCTCGTCCTGGT	0.713																																						ENST00000262713.2																			0											c.(835-840)gataacfs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450638_23450639insC	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.838dupG	14.37:g.23450639_23450639dupC	ENSP00000262713:p.Leu280fs					AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.DN279fs|RP11-298I3.5_ENST00000555074.1_Intron	p.DN279fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	1212_1213	-			279			PreLIM.		A8MX18|D3DS37	Frame_Shift_Ins	INS	ENST00000262713.2	37	c.837_838insG	CCDS9581.1																																																																																				0.713	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			15	7						15	7	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		45	49						45	49	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63547907	63547907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr18:63547907delG	ENST00000397968.2	+	12	2561	c.2135delG	c.(2134-2136)tggfs	p.W712fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.W712fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	712					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAATTTATTTGGGAAAGATTA	0.438																																						ENST00000397968.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(2134-2136)tgfs		cadherin 7, type 2							105.0	116.0	112.0					18																	63547907		2203	4300	6503	SO:0001589	frameshift_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547907delG	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2135delG	18.37:g.63547907delG	ENSP00000381058:p.Trp712fs					CDH7_ENST00000323011.3_Frame_Shift_Del_p.W712fs	p.W712fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN			12	2561	+		Esophageal squamous(42;0.129)	712					Q9H157	Frame_Shift_Del	DEL	ENST00000397968.2	37	c.2135delG	CCDS11993.1																																																																																				0.438	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		54	61						54	61	---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44778149	44778232	+	In_Frame_Del	DEL	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	-	rs142680472|rs377662786|rs143949039|rs367919579|rs201818973|rs139501263|rs138726857|rs576117722|rs147348991	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	ENST00000391958.2	+	5	1463_1546	c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	c.(1336-1419)cacactggagagaaaccatataaatgtgaggtatgtgataagggcttcagtaaggcctcaaatcttcaagcccatcagagaatcdel	p.HTGEKPYKCEVCDKGFSKASNLQAHQRI446del	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_In_Frame_Del_p.HTGEKPYKCEVCDKGFSKASNLQAHQRI428del|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCAGAGAGTTCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATCCACACTGGAG	0.437																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1336-1419)del		zinc finger protein 233			,	417,3845		16,385,1730					,	-2.0	0.0			81	11,8243		0,11,4116	no	coding,coding	ZNF233	NM_181756.2,NM_001207005.1	,	16,396,5846	A1A1,A1R,RR		0.1333,9.7841,3.4196	,	,		428,12088				SO:0001651	inframe_deletion	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	19.37:g.44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	ENSP00000375820:p.His446_Ile473del					ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_In_Frame_Del_p.HTGEKPYKCEVCDKGFSKASNLQAHQRI428del	p.HTGEKPYKCEVCDKGFSKASNLQAHQRI446del	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1463_1546	+		Prostate(69;0.0435)|all_neural(266;0.226)	446					B2RN78|B2RN79|Q86WL8	In_Frame_Del	DEL	ENST00000391958.2	37	c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	CCDS33047.1																																																																																				0.437	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		18	48						18	48	---	---	---	---
