#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
IGHG4	3503	broad.mit.edu	37	14	106092259	106092259	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:106092259C>T	ENST00000390543.2	-	0	144							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTGTGCACGCCGCTGGTCAGG	0.652																																						ENST00000390543.2																			0																				45.0	52.0	50.0					14																	106092259		1958	4110	6068			3503							g.chr14:106092259C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106092259C>T														0	144	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.652	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		9	65	0	0	0	1	0	9	65				
FER1L5	90342	broad.mit.edu	37	2	97361486	97361486	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:97361486C>T	ENST00000457909.1	+	0	3405							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAGCTCATGCCGACGGAGGAG	0.642																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							32.0	37.0	35.0					2																	97361486		2040	4175	6215			90342					integral to membrane		g.chr2:97361486C>T	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97361486C>T										A0AVI2	FR1L5_HUMAN			0	3405	+								Q17RH2|Q6ZU24	RNA	SNP	ENST00000457909.1	37			.	.	.	.	.	.	.	.	.	.	C	2.550	-0.304326	0.05495	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	4.67	3.78	0.43462	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.38436	U	0.001698	T	0.79816	0.4511	M	0.89414	3.03	.	.	.	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.69307	0.963;0.868;0.938	D	0.86279	0.1666	8	0.87932	D	0	-9.8863	11.3079	0.49347	0.183:0.817:0.0:0.0	.	45;1328;46	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	L	1328;1342;46	.	ENSP00000442027:P46L	P	+	2	0	FER1L5	96725213	1.000000	0.71417	0.752000	0.31206	0.008000	0.06430	6.646000	0.74348	0.926000	0.37118	-0.518000	0.04402	CCG		0.642	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		7	14	0	0	0	1	0	7	14				
CNKSR2	22866	broad.mit.edu	37	X	21515965	21515965	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:21515965G>A	ENST00000379510.3	+	7	777		c.e7+1		CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000425654.2_Splice_Site	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAGAAAATGTAAGTATTCT	0.308																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.e7+1		connector enhancer of kinase suppressor of Ras 2							108.0	98.0	102.0					X																	21515965		2203	4296	6499	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21515965G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.741+1G>A	X.37:g.21515965G>A						CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site		NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			7	1221	+								B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Splice_Site	SNP	ENST00000379510.3	37		CCDS14198.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.349784	0.82132	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3788	0.90443	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNKSR2	21425886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.341000	0.97041	2.280000	0.76307	0.591000	0.81541	.		0.308	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Intron	15	8	0	0	0	1	0	15	8				
CLDND1	56650	broad.mit.edu	37	3	98240121	98240121	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:98240121T>A	ENST00000503004.1	-	2	1027	c.148A>T	c.(148-150)Atc>Ttc	p.I50F	CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|CLDND1_ENST00000511081.1_Intron			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	50						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATCCCAGATGCTTTTATTC	0.413																																						ENST00000503004.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(148-150)Atc>Ttc		claudin domain containing 1							104.0	98.0	100.0					3																	98240121		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98240121T>A	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.148A>T	3.37:g.98240121T>A	ENSP00000421226:p.Ile50Phe					CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F	p.I50F			Q9NY35	CLDN1_HUMAN			2	1027	-			50					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.148A>T	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.700138	0.30142	.	.	ENSG00000080822	ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000508902;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071;ENST00000513130;ENST00000506575	T;T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.92;1.91;1.92;1.92;1.92;1.92;1.92;1.92;1.49;1.92;1.92;1.92;1.5	5.09	-6.51	0.01878	.	0.655336	0.15900	N	0.239113	T	0.14960	0.0361	N	0.22421	0.69	0.28967	N	0.889475	B;B;B	0.14805	0.011;0.007;0.0	B;B;B	0.24394	0.053;0.024;0.001	T	0.27054	-1.0085	10	0.19590	T	0.45	-0.0158	9.3571	0.38173	0.0:0.149:0.5806:0.2703	.	50;50;50	D6RCR8;Q9NY35;Q9NY35-2	.;CLDN1_HUMAN;.	F	50;50;73;50;3;50;50;50;50;50;28;50;50;50;50;50;50;50;28;50;50;50	ENSP00000340247:I50F;ENSP00000388457:I73F;ENSP00000377734:I50F;ENSP00000421226:I50F;ENSP00000377739:I50F;ENSP00000377735:I50F;ENSP00000423590:I50F;ENSP00000426869:I50F;ENSP00000423732:I28F;ENSP00000425539:I50F;ENSP00000420913:I50F;ENSP00000421413:I50F;ENSP00000423151:I50F	ENSP00000340247:I50F	I	-	1	0	CLDND1	99722811	0.000000	0.05858	0.560000	0.28344	0.822000	0.46500	-0.874000	0.04210	-1.074000	0.03132	-0.316000	0.08728	ATC		0.413	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		33	63	0	0	0	1	0	33	63				
ADM2	79924	broad.mit.edu	37	22	50921172	50921172	+	Missense_Mutation	SNP	C	C	T	rs549309630		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr22:50921172C>T	ENST00000395738.2	+	2	579	c.287C>T	c.(286-288)tCg>tTg	p.S96L	ADM2_ENST00000362068.2_Missense_Mutation_p.R13W|ADM2_ENST00000395737.1_Missense_Mutation_p.S96L	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	96					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGACACTCGGGCCCCCGC	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14200	0.0		0.0	False		,,,				2504	0.001					ENST00000395738.2																			0				breast(1)|kidney(1)	2						c.(286-288)tCg>tTg		adrenomedullin 2							8.0	10.0	10.0					22																	50921172		2004	4015	6019	SO:0001583	missense	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921172C>T	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.287C>T	22.37:g.50921172C>T	ENSP00000379087:p.Ser96Leu					ADM2_ENST00000362068.2_Missense_Mutation_p.R13W|ADM2_ENST00000395737.1_Missense_Mutation_p.S96L	p.S96L	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	579	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	96					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.287C>T	CCDS33682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.828|4.828	0.153972|0.153972	0.09185|0.09185	.|.	.|.	ENSG00000128165|ENSG00000128165	ENST00000362068|ENST00000395738;ENST00000395737	.|.	.|.	.|.	4.21|4.21	-8.42|-8.42	0.00957|0.00957	.|.	.|.	.|.	.|.	.|.	T|T	0.13329|0.13329	0.0323|0.0323	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.25641|0.25641	-1.0126|-1.0126	6|8	0.51188|0.12430	T|T	0.08|0.62	.|.	8.3063|8.3063	0.32045|0.32045	0.0:0.1744:0.2823:0.5433|0.0:0.1744:0.2823:0.5433	.|.	.|96	.|Q7Z4H4	.|ADM2_HUMAN	W|L	13|96	.|.	ENSP00000354955:R13W|ENSP00000379086:S96L	R|S	+|+	1|2	2|0	ADM2|ADM2	49268038|49268038	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.345000|0.345000	0.29048|0.29048	-0.504000|-0.504000	0.06375|0.06375	-2.917000|-2.917000	0.00306|0.00306	-0.480000|-0.480000	0.04831|0.04831	CGG|TCG		0.697	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		11	7	0	0	0	1	0	11	7				
SLC8A3	6547	broad.mit.edu	37	14	70633852	70633852	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:70633852A>T	ENST00000381269.2	-	2	2041	c.1288T>A	c.(1288-1290)Tat>Aat	p.Y430N	SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y430N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y430N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y430N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	430	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TAGTCCACATACATGGTCTTT	0.522																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1288-1290)Tat>Aat		solute carrier family 8 (sodium/calcium exchanger), member 3							135.0	125.0	128.0					14																	70633852		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633852A>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1288T>A	14.37:g.70633852A>T	ENSP00000370669:p.Tyr430Asn					SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y430N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y430N	p.Y430N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2041	-			430			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1288T>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380685	0.42207	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.72	5.72	0.89469	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.49778	1.585	0.58432	D	0.999999	P;P;D;D	0.76494	0.71;0.754;0.999;0.999	B;B;D;D	0.85130	0.273;0.393;0.997;0.979	T	0.46830	-0.9163	10	0.29301	T	0.29	.	16.0105	0.80399	1.0:0.0:0.0:0.0	.	430;430;430;430	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	430	ENSP00000349392:Y430N;ENSP00000370669:Y430N;ENSP00000350560:Y430N;ENSP00000436688:Y430N;ENSP00000433531:Y430N	ENSP00000349392:Y430N	Y	-	1	0	SLC8A3	69703605	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.318000	0.79029	2.170000	0.68504	0.523000	0.50628	TAT		0.522	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			74	102	0	0	0	1	0	74	102				
ZNF804B	219578	broad.mit.edu	37	7	88962841	88962841	+	Missense_Mutation	SNP	G	G	A	rs139327261	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr7:88962841G>A	ENST00000333190.4	+	4	1154	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATAAACAGCGGTCCACCATG	0.418										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(544-546)cGg>cAg		zinc finger protein 804B		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	114.0	110.0	112.0		545	4.4	0.7	7	dbSNP_134	112	0,8600		0,0,4300	no	missense	ZNF804B	NM_181646.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	182/1350	88962841	2,13004	2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962841G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.545G>A	7.37:g.88962841G>A	ENSP00000329638:p.Arg182Gln	HNSCC(36;0.09)					p.R182Q	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1154	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		182					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.545G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	7.945	0.743602	0.15642	4.54E-4	0.0	ENSG00000182348	ENST00000333190	T	0.04758	3.56	5.3	4.42	0.53409	.	0.116218	0.39210	N	0.001436	T	0.02455	0.0075	N	0.15975	0.35	0.22737	N	0.998798	B	0.33379	0.41	B	0.15052	0.012	T	0.46428	-0.9192	10	0.34782	T	0.22	-2.3836	7.1878	0.25809	0.249:0.0:0.751:0.0	.	182	A4D1E1	Z804B_HUMAN	Q	182	ENSP00000329638:R182Q	ENSP00000329638:R182Q	R	+	2	0	ZNF804B	88800777	0.588000	0.26799	0.733000	0.30861	0.781000	0.44180	2.548000	0.45794	1.488000	0.48433	0.650000	0.86243	CGG		0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		35	63	0	0	0	1	0	35	63				
CROCC	9696	broad.mit.edu	37	1	17256382	17256382	+	Silent	SNP	G	G	T	rs369720716		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:17256382G>T	ENST00000375541.5	+	4	462	c.393G>T	c.(391-393)acG>acT	p.T131T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCTGGAGACGCAGGAGCCCA	0.697																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(391-393)acG>acT		ciliary rootlet coiled-coil, rootletin							8.0	9.0	9.0					1																	17256382		2155	4213	6368	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17256382G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.393G>T	1.37:g.17256382G>T						CROCC_ENST00000467938.1_3'UTR	p.T131T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	4	462	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	131						Silent	SNP	ENST00000375541.5	37	c.393G>T	CCDS30616.1																																																																																				0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		2	2	1	0	0.115264	1	0.115264	2	2				
PMVK	10654	broad.mit.edu	37	1	154898884	154898884	+	Missense_Mutation	SNP	G	G	A	rs150445298	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:154898884G>A	ENST00000368467.3	-	4	693	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTACAACGCGGACCGTCTGC	0.622													G|||	35	0.00698882	0.0	0.0	5008	,	,		21146	0.0		0.0	False		,,,				2504	0.0358					ENST00000368467.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(388-390)Cgc>Tgc		phosphomevalonate kinase		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	81.0	62.0	68.0		388	4.6	0.9	1	dbSNP_134	68	0,8600		0,0,4300	no	missense	PMVK	NM_006556.3	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	130/193	154898884	2,13004	2203	4300	6503	SO:0001583	missense	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154898884G>A	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.388C>T	1.37:g.154898884G>A	ENSP00000357452:p.Arg130Cys						p.R130C	NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	693	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		130					Q5TZW9	Missense_Mutation	SNP	ENST00000368467.3	37	c.388C>T	CCDS1073.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117110	0.56505	4.54E-4	0.0	ENSG00000163344	ENST00000368467	T	0.41400	1.0	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72276	-0.4341	10	0.87932	D	0	-9.823	13.2686	0.60148	0.0:0.0:1.0:0.0	.	130	Q15126	PMVK_HUMAN	C	130	ENSP00000357452:R130C	ENSP00000357452:R130C	R	-	1	0	PMVK	153165508	1.000000	0.71417	0.892000	0.35008	0.053000	0.15095	4.037000	0.57311	2.266000	0.75297	0.561000	0.74099	CGC		0.622	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		4	62	0	0	0	1	0	4	62				
LRRC10	376132	broad.mit.edu	37	12	70004207	70004207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:70004207C>T	ENST00000361484.3	-	1	735	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	138					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGACCACATCCGGCAGCTGG	0.632																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(412-414)Gat>Aat		leucine rich repeat containing 10							56.0	59.0	58.0					12																	70004207		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004207C>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.412G>A	12.37:g.70004207C>T	ENSP00000355166:p.Asp138Asn						p.D138N	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	735	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		138					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.412G>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	5.694	0.312563	0.10789	.	.	ENSG00000198812	ENST00000361484	T	0.25085	1.82	5.62	2.84	0.33178	.	0.708626	0.15226	N	0.273678	T	0.15522	0.0374	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.17369	T	0.5	.	9.661	0.39954	0.0:0.7171:0.0:0.2829	.	138	Q5BKY1	LRC10_HUMAN	N	138	ENSP00000355166:D138N	ENSP00000355166:D138N	D	-	1	0	LRRC10	68290474	0.043000	0.20138	0.001000	0.08648	0.523000	0.34469	1.211000	0.32382	0.426000	0.26116	0.555000	0.69702	GAT		0.632	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		30	85	0	0	0	1	0	30	85				
ITGB3	3690	broad.mit.edu	37	17	45368453	45368453	+	Splice_Site	SNP	C	C	T	rs147758772		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:45368453C>T	ENST00000559488.1	+	9	1275	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	ITGB3_ENST00000560629.1_Splice_Site_p.H408H|ITGB3_ENST00000435993.2_Splice_Site_p.T373M|ITGB3_ENST00000571680.1_Missense_Mutation_p.T420M	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	420					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	ATTGGAGACACGGTGAGGTGG	0.542																																						ENST00000571680.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1258-1260)aCg>aTg		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	98.0	85.0	89.0		1259	5.3	1.0	17	dbSNP_134	89	0,8600		0,0,4300	yes	missense-near-splice	ITGB3	NM_000212.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	420/789	45368453	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45368453C>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1260+1C>T	17.37:g.45368453C>T						ITGB3_ENST00000559488.1_Splice_Site_p.T420_splice|ITGB3_ENST00000435993.2_Splice_Site_p.T373_splice|ITGB3_ENST00000560629.1_Splice_Site_p.H408_splice	p.T420M			P05106	ITB3_HUMAN			9	1268	+			420					A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1259C>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001150	0.93227	2.27E-4	0.0	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92965	-3.14	5.33	5.33	0.75918	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	L	0.52573	1.65	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.57324	0.745;0.818	D	0.93711	0.7024	10	0.52906	T	0.07	.	17.7885	0.88546	0.0:1.0:0.0:0.0	.	420;420	P05106;Q2YFE1	ITB3_HUMAN;.	M	420;373	ENSP00000407801:T373M	ENSP00000262017:T420M	T	+	2	0	C17orf57	42723452	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.783000	0.85696	2.494000	0.84150	0.462000	0.41574	ACG		0.542	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	Missense_Mutation	36	56	0	0	0	1	0	36	56				
JRK	8629	broad.mit.edu	37	8	143745934	143745934	+	RNA	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:143745934C>A	ENST00000507178.2	-	0	1876							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				GCGCCCgcagctgccccactt	0.706																																						ENST00000507178.2																			0													jerky homolog (mouse)							12.0	16.0	15.0					8																	143745934		2148	4261	6409			8629							g.chr8:143745934C>A	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143745934C>A														0	1876	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	RNA	SNP	ENST00000507178.2	37																																																																																						0.706	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		8	6	1	0	1.26484e-09	1	1.35519e-09	8	6				
FNDC1	84624	broad.mit.edu	37	6	159655239	159655239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:159655239C>A	ENST00000297267.9	+	11	3895	c.3695C>A	c.(3694-3696)cCt>cAt	p.P1232H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1169H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1232					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTTGCCCCTCGCGGAGGG	0.697																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3694-3696)cCt>cAt		fibronectin type III domain containing 1							11.0	15.0	14.0					6																	159655239		1975	4135	6110	SO:0001583	missense	84624					extracellular region		g.chr6:159655239C>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3695C>A	6.37:g.159655239C>A	ENSP00000297267:p.Pro1232His					FNDC1_ENST00000340366.6_Missense_Mutation_p.P1169H	p.P1232H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3895	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1232					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3695C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903557	0.33628	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08282	3.11;3.9	4.33	3.45	0.39498	.	0.708972	0.12572	N	0.457243	T	0.02494	0.0076	L	0.27053	0.805	0.09310	N	1	B;B	0.22683	0.073;0.025	B;B	0.23018	0.043;0.01	T	0.42949	-0.9421	10	0.59425	D	0.04	.	11.4329	0.50052	0.1809:0.8191:0.0:0.0	.	1169;1232	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	1232;1169	ENSP00000297267:P1232H;ENSP00000342460:P1169H	ENSP00000297267:P1232H	P	+	2	0	FNDC1	159575229	0.003000	0.15002	0.000000	0.03702	0.049000	0.14656	1.568000	0.36418	0.788000	0.33755	-0.321000	0.08615	CCT		0.697	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	10	1	0	0.014758	1	0.014848	4	10				
SERPINI1	5274	broad.mit.edu	37	3	167525052	167525052	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:167525052T>A	ENST00000295777.5	+	6	1333	c.902T>A	c.(901-903)aTt>aAt	p.I301N	SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	301					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAACAGGAAATTGATTTAAAA	0.338																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(901-903)aTt>aAt		serpin peptidase inhibitor, clade I (neuroserpin), member 1							64.0	70.0	68.0					3																	167525052		2203	4295	6498	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525052T>A	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.902T>A	3.37:g.167525052T>A	ENSP00000295777:p.Ile301Asn					SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N	p.I301N	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			6	1333	+			301					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.902T>A	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.71|16.71	3.199587|3.199587	0.58126|0.58126	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	D;D|.	0.85556|.	-2.0;-2.0|.	5.36|5.36	4.2|4.2	0.49525|0.49525	Serpin domain (3);|.	0.199564|.	0.53938|.	D|.	0.000059|.	T|T	0.74512|0.74512	0.3726|0.3726	M|M	0.84683|0.84683	2.71|2.71	0.42680|0.42680	D|D	0.993543|0.993543	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.75291|0.75291	-0.3369|-0.3369	10|5	0.87932|.	D|.	0|.	.|.	9.7144|9.7144	0.40265|0.40265	0.0:0.0796:0.0:0.9204|0.0:0.0796:0.0:0.9204	.|.	301|.	Q99574|.	NEUS_HUMAN|.	N|K	301;301;49|9	ENSP00000397373:I301N;ENSP00000295777:I301N|.	ENSP00000295777:I301N|.	I|N	+|+	2|3	0|2	SERPINI1|SERPINI1	169007746|169007746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	3.140000|3.140000	0.50585|0.50585	0.875000|0.875000	0.35847|0.35847	-0.254000|-0.254000	0.11334|0.11334	ATT|AAT		0.338	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			68	221	0	0	0	1	0	68	221				
IQCG	84223	broad.mit.edu	37	3	197619560	197619560	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:197619560A>G	ENST00000265239.6	-	10	1458	c.1034T>C	c.(1033-1035)cTa>cCa	p.L345P	IQCG_ENST00000455191.1_Missense_Mutation_p.L345P|RNU6-858P_ENST00000362436.1_RNA	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	345						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAGAGCATTTAGTTCATTCTG	0.438																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1033-1035)cTa>cCa		IQ motif containing G							385.0	349.0	361.0					3																	197619560		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197619560A>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1034T>C	3.37:g.197619560A>G	ENSP00000265239:p.Leu345Pro					IQCG_ENST00000455191.1_Missense_Mutation_p.L345P	p.L345P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	10	1458	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		345					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.1034T>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221747	0.79464	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.57107	0.42;0.42	5.69	5.69	0.88448	.	0.105823	0.37261	N	0.002178	T	0.74199	0.3685	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77872	-0.2426	10	0.66056	D	0.02	-9.3492	15.6474	0.77065	1.0:0.0:0.0:0.0	.	345	Q9H095	IQCG_HUMAN	P	345	ENSP00000265239:L345P;ENSP00000407736:L345P	ENSP00000265239:L345P	L	-	2	0	IQCG	199103957	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	7.032000	0.76498	2.180000	0.69256	0.524000	0.50904	CTA		0.438	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		104	633	0	0	0	1	0	104	633				
N4BP2L1	90634	broad.mit.edu	37	13	32972595	32972595	+	IGR	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:32972595A>T	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N|BRCA2_ENST00000544455.1_Missense_Mutation_p.K3315N	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TAAAGAAAAAAGAACTGAATT	0.368																																						ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9943-9945)aaA>aaT	Homologous recombination	breast cancer 2, early onset							65.0	68.0	67.0					13																	32972595		2203	4300	6503	SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972595A>T	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972595A>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N	p.K3315N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10172	+		Lung SC(185;0.0262)	3315					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.9945A>T	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	A	12.19	1.863491	0.32884	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00737	5.76;5.76	5.43	-2.49	0.06403	.	1.256700	0.05113	N	0.489264	T	0.00552	0.0018	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48958	-0.8988	10	0.16896	T	0.51	.	0.1307	0.00073	0.3571:0.1991:0.1998:0.244	.	3315	P51587	BRCA2_HUMAN	N	3315	ENSP00000369497:K3315N;ENSP00000439902:K3315N	ENSP00000369497:K3315N	K	+	3	2	BRCA2	31870595	0.000000	0.05858	0.010000	0.14722	0.624000	0.37722	-0.189000	0.09629	0.123000	0.18342	0.383000	0.25322	AAA		0.368	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		34	51	0	0	0	1	0	34	51				
DLG2	1740	broad.mit.edu	37	11	84996292	84996292	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:84996292C>T	ENST00000376104.2	-	4	469	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTGTCATGGCACGGAGCAAG	0.383																																						ENST00000376104.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(157-159)tGc>tAc		discs, large homolog 2 (Drosophila)							222.0	198.0	205.0					11																	84996292		1568	3581	5149	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84996292C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.158G>A	11.37:g.84996292C>T	ENSP00000365272:p.Cys53Tyr					DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y	p.C53Y	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN			4	469	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000376104.2	37	c.158G>A	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	C	3.566	-0.088737	0.07097	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.12039	2.72;2.72	5.77	1.32	0.21799	.	0.696409	0.13032	N	0.419214	T	0.07143	0.0181	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.41875	-0.9484	9	.	.	.	.	7.7311	0.28788	0.0:0.4986:0.2597:0.2417	.	53	Q15700-2	.	Y	53	ENSP00000365272:C53Y;ENSP00000441994:C53Y	.	C	-	2	0	DLG2	84673940	0.084000	0.21492	0.001000	0.08648	0.033000	0.12548	0.174000	0.16743	0.264000	0.21851	0.655000	0.94253	TGC		0.383	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364		41	113	0	0	0	1	0	41	113				
SORCS1	114815	broad.mit.edu	37	10	108371726	108371726	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:108371726C>T	ENST00000263054.6	-	22	2983	c.2976G>A	c.(2974-2976)ccG>ccA	p.P992P	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Silent_p.P527P|SORCS1_ENST00000344440.6_Silent_p.P992P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	992					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGGATGTCCGGGTTGTAGT	0.483																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2974-2976)ccG>ccA		sortilin-related VPS10 domain containing receptor 1							115.0	103.0	107.0					10																	108371726		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108371726C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2976G>A	10.37:g.108371726C>T						SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Silent_p.P992P|SORCS1_ENST00000369698.1_Silent_p.P527P	p.P992P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	22	2983	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	992					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.2976G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	8.039	0.763507	0.15914	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	-16.6406	3.9602	0.09407	0.2439:0.4444:0.1511:0.1606	.	.	.	.	Q	7	.	.	R	-	2	0	SORCS1	108361716	0.000000	0.05858	0.060000	0.19600	0.980000	0.70556	-5.328000	0.00131	-3.786000	0.00107	-1.004000	0.02495	CGG		0.483	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		24	27	0	0	0	1	0	24	27				
FAM160B1	57700	broad.mit.edu	37	10	116590627	116590627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:116590627C>G	ENST00000369248.4	+	2	397	c.62C>G	c.(61-63)cCt>cGt	p.P21R	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R|FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	21										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTCTCTTCCTTTACAAGAA	0.318																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(61-63)cCt>cGt		family with sequence similarity 160, member B1							155.0	142.0	146.0					10																	116590627		2203	4298	6501	SO:0001583	missense	57700							g.chr10:116590627C>G	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.62C>G	10.37:g.116590627C>G	ENSP00000358251:p.Pro21Arg					FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R|FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R	p.P21R	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			2	397	+			21					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.62C>G	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270049	0.80469	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000369246	T;T	0.15603	2.44;2.41	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.68621	0.923;0.959	T	0.19386	-1.0307	10	0.56958	D	0.05	-16.3417	17.639	0.88130	0.0:1.0:0.0:0.0	.	21;21	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	R	21	ENSP00000358251:P21R;ENSP00000358253:P21R	ENSP00000358249:P21R	P	+	2	0	FAM160B1	116580617	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.670000	0.83925	2.159000	0.67721	0.462000	0.41574	CCT		0.318	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		22	61	0	0	0	1	0	22	61				
ZNF484	83744	broad.mit.edu	37	9	95610231	95610231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:95610231C>T	ENST00000375495.3	-	5	986	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000395505.2_Missense_Mutation_p.E244K|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	280					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)	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCATGGCATTCATGCTGCTTT	0.428																																						ENST00000395505.2																			1	Substitution - Nonsense(1)	p.E280*(1)	cervix(1)	NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(730-732)Gaa>Aaa		zinc finger protein 484							96.0	91.0	93.0					9																	95610231		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610231C>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.838G>A	9.37:g.95610231C>T	ENSP00000364645:p.Glu280Lys					ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.E280K	p.E244K	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	822	-			280					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.730G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	2.670	-0.277868	0.05679	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	2.47	0.561	0.17285	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.13168	0.305	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.44544	-0.9321	9	0.12103	T	0.63	.	3.8506	0.08953	0.0:0.5985:0.2514:0.1501	.	282;280	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	244;282;280;244	ENSP00000378881:E244K;ENSP00000378882:E282K;ENSP00000364645:E280K;ENSP00000364646:E244K	ENSP00000364646:E244K	E	-	1	0	ZNF484	94650052	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-3.227000	0.00549	0.133000	0.18654	-0.272000	0.10252	GAA		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		33	121	0	0	0	1	0	33	121				
KCNJ9	3765	broad.mit.edu	37	1	160054148	160054148	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:160054148G>C	ENST00000368088.3	+	2	570	c.328G>C	c.(328-330)Gcc>Ccc	p.A110P		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	110					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTGGCCGCCTTCCTCTT	0.677																																						ENST00000368088.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16						c.(328-330)Gcc>Ccc		potassium inwardly-rectifying channel, subfamily J, member 9							49.0	43.0	45.0					1																	160054148		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054148G>C	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.328G>C	1.37:g.160054148G>C	ENSP00000357067:p.Ala110Pro						p.A110P	NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	570	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		110					Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.328G>C	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075509	0.94000	.	.	ENSG00000162728	ENST00000368088	D	0.97455	-4.39	4.77	4.77	0.60923	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	.	16.5815	0.84716	0.0:0.0:1.0:0.0	.	110	Q92806	IRK9_HUMAN	P	110	ENSP00000357067:A110P	ENSP00000357067:A110P	A	+	1	0	KCNJ9	158320772	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.630000	0.98420	2.186000	0.69663	0.484000	0.47621	GCC		0.677	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		15	36	0	0	0	1	0	15	36				
ZC3H18	124245	broad.mit.edu	37	16	88689626	88689626	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:88689626G>A	ENST00000301011.5	+	10	1867		c.e10-1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCCGCCCCAGGTCGTCTTCG	0.657																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.e10-1		zinc finger CCCH-type containing 18							54.0	42.0	46.0					16																	88689626		2198	4299	6497	SO:0001630	splice_region_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88689626G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1668-1G>A	16.37:g.88689626G>A						ZC3H18_ENST00000452588.2_Splice_Site		NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	10	1867	+								Q96DG4|Q96MP7	Splice_Site	SNP	ENST00000301011.5	37		CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279552	0.40294	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H18	87217127	1.000000	0.71417	0.995000	0.50966	0.046000	0.14306	8.910000	0.92685	2.596000	0.87737	0.561000	0.74099	.		0.657	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	Intron	24	20	0	0	0	1	0	24	20				
PDZD2	23037	broad.mit.edu	37	5	32088330	32088330	+	Silent	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:32088330G>T	ENST00000438447.1	+	20	5164	c.4776G>T	c.(4774-4776)tcG>tcT	p.S1592S	PDZD2_ENST00000282493.3_Silent_p.S1592S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1592					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGATCCTTCGGAGTCAGAAG	0.577																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(4774-4776)tcG>tcT		PDZ domain containing 2							98.0	102.0	101.0					5																	32088330		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088330G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4776G>T	5.37:g.32088330G>T						PDZD2_ENST00000282493.3_Silent_p.S1592S	p.S1592S			O15018	PDZD2_HUMAN			20	5164	+			1592					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.4776G>T	CCDS34137.1																																																																																				0.577	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			47	102	1	0	1.47857e-17	1	1.67099e-17	47	102				
MORC1	27136	broad.mit.edu	37	3	108773582	108773582	+	Silent	SNP	G	G	T	rs369150269		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:108773582G>T	ENST00000483760.1	-	14	1366	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	MORC1_ENST00000232603.5_Silent_p.T441T					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTGATGCCGGTGTCCTTAC	0.373																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1321-1323)acC>acA		MORC family CW-type zinc finger 1							169.0	162.0	165.0					3																	108773582		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773582G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1323C>A	3.37:g.108773582G>T						MORC1_ENST00000483760.1_Silent_p.T441T	p.T441T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			14	1405	-			441						Silent	SNP	ENST00000483760.1	37	c.1323C>A																																																																																					0.373	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			43	118	1	0	7.05121e-23	1	8.13601e-23	43	118				
IGHG4	3503	broad.mit.edu	37	14	106091490	106091490	+	RNA	SNP	C	C	T	rs374177525		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:106091490C>T	ENST00000390543.2	-	0	403							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CTCAGGGGTCCGGGAGATCAT	0.592																																						ENST00000390543.2																			0															C		0,4084		0,0,2042	90.0	108.0	102.0			-4.1	0.0	14		102	1,8405		0,1,4202	no	intergenic				0,1,6244	TT,TC,CC		0.0119,0.0,0.0080			106091490	1,12489	2042	4203	6245			3503							g.chr14:106091490C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091490C>T														0	403	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.592	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		35	192	0	0	0	1	0	35	192				
ROBO4	54538	broad.mit.edu	37	11	124756993	124756993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:124756993G>T	ENST00000306534.3	-	15	2800	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	772	Pro/Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTGGAAGCTGGGCTGGGGCC	0.652																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2314-2316)cCa>cAa		roundabout, axon guidance receptor, homolog 4 (Drosophila)							32.0	35.0	34.0					11																	124756993		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756993G>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2315C>A	11.37:g.124756993G>T	ENSP00000304945:p.Pro772Gln					ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q|RP11-664I21.5_ENST00000524453.1_RNA	p.P772Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	15	2800	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	772			Pro/Ser-rich.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2315C>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	g	19.71	3.877464	0.72294	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.68025	-0.3;0.09	4.61	3.66	0.41972	.	0.777638	0.10553	N	0.661246	T	0.74465	0.3720	M	0.66939	2.045	0.21675	N	0.999599	P;P;P	0.51791	0.911;0.948;0.914	P;P;P	0.55577	0.7;0.779;0.606	T	0.61103	-0.7130	10	0.56958	D	0.05	.	8.9875	0.36003	0.1111:0.0:0.8889:0.0	.	772;662;772	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	Q	772;662;627	ENSP00000304945:P772Q;ENSP00000437129:P627Q	ENSP00000304945:P772Q	P	-	2	0	ROBO4	124262203	0.903000	0.30736	0.764000	0.31436	0.992000	0.81027	1.143000	0.31553	0.904000	0.36572	0.552000	0.68991	CCA		0.652	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		29	45	1	0	1.77063e-15	1	1.97402e-15	29	45				
KTN1	3895	broad.mit.edu	37	14	56142559	56142559	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:56142559G>C	ENST00000395314.3	+	41	3846	c.3778G>C	c.(3778-3780)Gca>Cca	p.A1260P	KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P|KTN1_ENST00000416613.1_Missense_Mutation_p.A1260P|KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1260					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGTTGAAGGCACAGTTAAA	0.368			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3778-3780)Gca>Cca		kinectin 1 (kinesin receptor)							136.0	123.0	128.0					14																	56142559		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56142559G>C		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3778G>C	14.37:g.56142559G>C	ENSP00000378725:p.Ala1260Pro					KTN1_ENST00000395314.3_Missense_Mutation_p.A1260P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P	p.A1260P			Q86UP2	KTN1_HUMAN			40	3850	+			1260					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.3778G>C	CCDS41957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.897574|2.897574	0.52121|0.52121	.|.	.|.	ENSG00000126777|ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000555573|ENST00000554294	T;T;T;T;T;T;T;T;T|.	0.78924|.	1.49;1.49;1.49;1.49;1.49;1.49;1.49;-1.22;-1.22|.	5.53|5.53	3.09|3.09	0.35607|0.35607	.|.	0.627229|.	0.14973|.	N|.	0.287736|.	T|T	0.18341|0.18341	0.0440|0.0440	N|N	0.08118|0.08118	0|0	0.22745|0.22745	N|N	0.998783|0.998783	B;B;B;B;B;B|.	0.28933|.	0.039;0.075;0.228;0.13;0.045;0.075|.	B;B;B;B;B;B|.	0.37015|.	0.124;0.124;0.239;0.176;0.071;0.158|.	T|T	0.25467|0.25467	-1.0131|-1.0131	10|5	0.66056|.	D|.	0.02|.	-0.288|-0.288	8.1954|8.1954	0.31394|0.31394	0.8156:0.0:0.1844:0.0|0.8156:0.0:0.1844:0.0	.|.	237;1232;498;1203;1209;1260|.	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2|.	.;.;.;.;.;KTN1_HUMAN|.	P|S	1209;1260;1203;1260;1209;1209;1260;498;237|30	ENSP00000394992:A1209P;ENSP00000378720:A1260P;ENSP00000391964:A1203P;ENSP00000378725:A1260P;ENSP00000378719:A1209P;ENSP00000378722:A1209P;ENSP00000388807:A1260P;ENSP00000452073:A498P;ENSP00000451698:A237P|.	ENSP00000334083:A55P|.	A|R	+|+	1|3	0|2	KTN1|KTN1	55212312|55212312	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	3.729000|3.729000	0.54999|0.54999	0.429000|0.429000	0.26202|0.26202	-0.312000|-0.312000	0.09012|0.09012	GCA|AGG		0.368	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			26	47	0	0	0	1	0	26	47				
SEMA5A	9037	broad.mit.edu	37	5	9202097	9202097	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:9202097T>C	ENST00000382496.5	-	9	1567	c.902A>G	c.(901-903)gAt>gGt	p.D301G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	301	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATAGATCAAATCCAGCTCAGG	0.438																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(901-903)gAt>gGt		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							66.0	65.0	65.0					5																	9202097		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202097T>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.902A>G	5.37:g.9202097T>C	ENSP00000371936:p.Asp301Gly						p.D301G	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			9	1567	-			301			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.902A>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750355	0.69533	.	.	ENSG00000112902	ENST00000382496	T	0.22945	1.93	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.048873	0.85682	D	0.000000	T	0.44265	0.1285	L	0.61218	1.895	0.48901	D	0.999724	D	0.59767	0.986	D	0.64237	0.923	T	0.20140	-1.0284	10	0.23302	T	0.38	.	14.1538	0.65405	0.0:0.0:0.0:1.0	.	301	Q13591	SEM5A_HUMAN	G	301	ENSP00000371936:D301G	ENSP00000371936:D301G	D	-	2	0	SEMA5A	9255097	1.000000	0.71417	0.865000	0.33974	0.993000	0.82548	5.777000	0.68931	2.227000	0.72691	0.533000	0.62120	GAT		0.438	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			34	43	0	0	0	1	0	34	43				
NT5DC2	64943	broad.mit.edu	37	3	52562303	52562303	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:52562303C>T	ENST00000307076.4	-	6	956	c.556G>A	c.(556-558)Gac>Aac	p.D186N	NT5DC2_ENST00000422318.2_Missense_Mutation_p.D223N|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D198N|NT5DC2_ENST00000307092.4_Missense_Mutation_p.D127N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	186							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAGAAGATGTCCATGAACTGC	0.572																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(556-558)Gac>Aac		5'-nucleotidase domain containing 2							75.0	78.0	77.0					3																	52562303		2203	4300	6503	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52562303C>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.556G>A	3.37:g.52562303C>T	ENSP00000302468:p.Asp186Asn					NT5DC2_ENST00000307092.4_Missense_Mutation_p.D127N|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D198N|NT5DC2_ENST00000422318.2_Missense_Mutation_p.D223N	p.D186N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	6	956	-			186					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.556G>A	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.023646|4.023646	0.75390|0.75390	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839;ENST00000471522|ENST00000489316	T;T;T;T;T|.	0.25912|.	1.77;1.77;1.77;1.77;1.77|.	4.65|4.65	4.65|4.65	0.58169|0.58169	HAD-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85035|0.85035	0.5605|0.5605	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.988;0.996|.	D;D;D|.	0.85130|.	0.997;0.93;0.959|.	D|D	0.88966|0.88966	0.3397|0.3397	10|5	0.72032|.	D|.	0.01|.	-33.1224|-33.1224	17.519|17.519	0.87782|0.87782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	198;186;223|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	N|E	127;186;223;198;34|107	ENSP00000306017:D127N;ENSP00000302468:D186N;ENSP00000406933:D223N;ENSP00000419547:D198N;ENSP00000418583:D34N|.	ENSP00000302468:D186N|.	D|G	-|-	1|2	0|0	NT5DC2|NT5DC2	52537343|52537343	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.435000|0.435000	0.31806|0.31806	7.463000|7.463000	0.80869|0.80869	2.158000|2.158000	0.67659|0.67659	0.313000|0.313000	0.20887|0.20887	GAC|GGA		0.572	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		4	55	0	0	0	1	0	4	55				
TIGD4	201798	broad.mit.edu	37	4	153691671	153691671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:153691671C>T	ENST00000304337.2	-	2	1306	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	162						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATTTTGGTACCAGACAGTCG	0.363																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(484-486)tgG>tgA		tigger transposable element derived 4							40.0	43.0	42.0					4																	153691671		2197	4296	6493	SO:0001587	stop_gained	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691671C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.486G>A	4.37:g.153691671C>T	ENSP00000355162:p.Trp162*						p.W162*	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1306	-	all_hematologic(180;0.093)		162					Q96LP5	Nonsense_Mutation	SNP	ENST00000304337.2	37	c.486G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	43	9.851101	0.99279	.	.	ENSG00000169989	ENST00000304337	.	.	.	6.03	6.03	0.97812	.	0.000000	0.46758	D	0.000270	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5451	20.1672	0.98154	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000355162:W162X	W	-	3	0	TIGD4	153911121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.463000	0.66712	2.861000	0.98227	0.655000	0.94253	TGG		0.363	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		35	30	0	0	0	1	0	35	30				
RAG2	5897	broad.mit.edu	37	11	36614195	36614195	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:36614195T>A	ENST00000311485.3	-	2	1685	c.1524A>T	c.(1522-1524)aaA>aaT	p.K508N	C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000446510.2_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	508					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCCAGAACCTTTTTTACGGA	0.393									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(1522-1524)aaA>aaT		recombination activating gene 2							58.0	64.0	62.0					11																	36614195		2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614195T>A	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1524A>T	11.37:g.36614195T>A	ENSP00000308620:p.Lys508Asn						p.K508N	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	1685	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	508					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1524A>T	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.749613	0.49257	.	.	ENSG00000175097	ENST00000311485	D	0.97186	-4.28	5.37	-6.4	0.01944	.	0.049185	0.85682	D	0.000000	D	0.96380	0.8819	L	0.46157	1.445	0.40519	D	0.980815	D	0.71674	0.998	P	0.61940	0.896	D	0.94723	0.7902	10	0.87932	D	0	-15.4037	15.6419	0.77012	0.0:0.5332:0.0:0.4668	.	508	P55895	RAG2_HUMAN	N	508	ENSP00000308620:K508N	ENSP00000308620:K508N	K	-	3	2	RAG2	36570771	0.119000	0.22226	0.773000	0.31616	0.858000	0.48976	-0.028000	0.12350	-1.437000	0.01967	-1.080000	0.02220	AAA		0.393	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		4	43	0	0	0	1	0	4	43				
CHST14	113189	broad.mit.edu	37	15	40763950	40763950	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:40763950C>A	ENST00000306243.5	+	1	791	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	CHST14_ENST00000559991.1_Missense_Mutation_p.L155I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	180					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGACGTCCGCCTCAAGATGGA	0.602																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(538-540)Ctc>Atc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							59.0	50.0	53.0					15																	40763950		2203	4300	6503	SO:0001583	missense	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40763950C>A	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.538C>A	15.37:g.40763950C>A	ENSP00000307297:p.Leu180Ile					CHST14_ENST00000559991.1_Missense_Mutation_p.L155I	p.L180I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	791	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	180					Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	c.538C>A	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982277	0.34942	.	.	ENSG00000169105	ENST00000306243	T	0.73897	-0.79	4.98	4.98	0.66077	.	0.079856	0.50627	D	0.000117	T	0.46776	0.1410	N	0.01003	-1.06	0.38550	D	0.949437	B	0.16396	0.017	B	0.11329	0.006	T	0.49890	-0.8891	10	0.24483	T	0.36	-11.7675	15.7994	0.78439	0.0:1.0:0.0:0.0	.	180	Q8NCH0	CHSTE_HUMAN	I	180	ENSP00000307297:L180I	ENSP00000307297:L180I	L	+	1	0	CHST14	38551242	0.145000	0.22656	1.000000	0.80357	0.998000	0.95712	0.944000	0.29043	2.605000	0.88082	0.655000	0.94253	CTC		0.602	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		26	42	1	0	4.59853e-10	1	4.9592e-10	26	42				
CLCA2	9635	broad.mit.edu	37	1	86913313	86913313	+	Silent	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:86913313A>G	ENST00000370565.4	+	11	1998	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	612					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTTTGTGGAAAGAGACAGCC	0.493																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(1834-1836)gaA>gaG		chloride channel accessory 2							144.0	137.0	140.0					1																	86913313		2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86913313A>G		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1836A>G	1.37:g.86913313A>G							p.E612E	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	11	1998	+		Lung NSC(277;0.238)	612					A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.1836A>G	CCDS708.1																																																																																				0.493	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		63	105	0	0	0	1	0	63	105				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			6	32	0	0	0	1	0	6	32				
CRIPAK	285464	broad.mit.edu	37	4	1388818	1388818	+	Silent	SNP	A	A	T	rs142640592	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:1388818A>T	ENST00000324803.4	+	1	3479	c.519A>T	c.(517-519)ccA>ccT	p.P173P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	173					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACACGTGCCCATGTGGAGTGC	0.682																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(517-519)ccA>ccT		cysteine-rich PAK1 inhibitor																																				SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388818A>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.519A>T	4.37:g.1388818A>T							p.P173P	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3479	+			173					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.519A>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	a	6.993	0.553283	0.13374	.	.	ENSG00000179979	ENST00000382944	.	.	.	1.25	-2.49	0.06403	.	.	.	.	.	T	0.08846	0.0219	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26224	-1.0109	5	0.02654	T	1	.	3.709	0.08413	0.4786:0.3393:0.1821:0.0	.	.	.	.	L	157	.	ENSP00000372402:M157L	M	+	1	0	CRIPAK	1378818	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.356000	0.07661	-1.466000	0.01897	0.102000	0.15555	ATG		0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		4	14	0	0	0	1	0	4	14				
PCDHB2	56133	broad.mit.edu	37	5	140475051	140475051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140475051G>A	ENST00000194155.4	+	1	825	c.677G>A	c.(676-678)gGc>gAc	p.G226D		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGTCCGGCACGGCCCTG	0.582																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(676-678)gGc>gAc									42.0	45.0	44.0					5																	140475051		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475051G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.677G>A	5.37:g.140475051G>A	ENSP00000194155:p.Gly226Asp						p.G226D	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	825	+			226			Cadherin 2.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.677G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451809	0.63290	.	.	ENSG00000112852	ENST00000194155	T	0.54279	0.58	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77068	0.4076	M	0.84433	2.695	0.43047	D	0.994648	D	0.89917	1.0	D	0.87578	0.998	T	0.80723	-0.1255	9	0.87932	D	0	.	19.1926	0.93672	0.0:0.0:1.0:0.0	.	226	Q9Y5E7	PCDB2_HUMAN	D	226	ENSP00000194155:G226D	ENSP00000194155:G226D	G	+	2	0	PCDHB2	140455235	1.000000	0.71417	0.946000	0.38457	0.498000	0.33706	4.712000	0.61888	2.695000	0.91970	0.655000	0.94253	GGC		0.582	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		11	27	0	0	0	1	0	11	27				
TTN	7273	broad.mit.edu	37	2	179484368	179484368	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:179484368C>G	ENST00000591111.1	-	200	41977	c.41753G>C	c.(41752-41754)aGa>aCa	p.R13918T	TTN_ENST00000342992.6_Missense_Mutation_p.R12991T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN_ENST00000589042.1_Missense_Mutation_p.R15559T|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13918					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)			AAGCTTAGCTCTGGCTTCTTT	0.373																																						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.(46675-46677)aGa>aCa		titin							153.0	152.0	152.0					2																	179484368		1852	4091	5943	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179484368C>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.41753G>C	2.37:g.179484368C>G	ENSP00000465570:p.Arg13918Thr					TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12991T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN_ENST00000591111.1_Missense_Mutation_p.R13918T	p.R15559T	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)		250	46900	-			13918			Fibronectin type-III 13.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46676G>C		.	.	.	.	.	.	.	.	.	.	c	7.760	0.705096	0.15172	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.12;0.11;0.09	5.79	2.1	0.27182	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45657	0.1353	N	0.10733	0.035	0.30124	N	0.805415	B;P;P;P	0.35493	0.324;0.505;0.505;0.505	B;B;B;B	0.42319	0.174;0.383;0.383;0.383	T	0.49428	-0.8941	9	0.87932	D	0	.	8.2549	0.31748	0.0:0.7002:0.1131:0.1867	.	6494;6619;6686;13918	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	12991;6494;6686;6619;6494	ENSP00000343764:R12991T;ENSP00000434586:R6494T;ENSP00000340554:R6686T;ENSP00000352154:R6619T	ENSP00000340554:R6686T	R	-	2	0	TTN	179192613	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	1.092000	0.30927	0.118000	0.18165	-1.640000	0.00773	AGA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	75	0	0	0	1	0	43	75				
SLCO5A1	81796	broad.mit.edu	37	8	70667725	70667725	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:70667725T>C	ENST00000260126.4	-	4	1898	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	398						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTGTTTGATTTCTCCTTCAGA	0.358																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1192-1194)Aaa>Gaa		solute carrier organic anion transporter family, member 5A1							136.0	116.0	123.0					8																	70667725		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70667725T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1192A>G	8.37:g.70667725T>C	ENSP00000260126:p.Lys398Glu					SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E	p.K398E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		4	1898	-	Breast(64;0.0654)		398					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1192A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708674	0.48517	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.38240	1.15;1.15;1.15	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.139200	0.07183	N	0.854362	T	0.45013	0.1321	N	0.17872	0.535	0.39925	D	0.974215	D;P;B;B	0.63046	0.992;0.489;0.042;0.36	D;B;B;B	0.63283	0.913;0.176;0.037;0.161	T	0.11060	-1.0603	10	0.16896	T	0.51	.	15.5495	0.76137	0.0:0.0:0.0:1.0	.	398;398;398;398	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	E	398	ENSP00000260126:K398E;ENSP00000434422:K398E;ENSP00000431611:K398E	ENSP00000260126:K398E	K	-	1	0	SLCO5A1	70830279	1.000000	0.71417	0.998000	0.56505	0.153000	0.21895	7.633000	0.83260	2.248000	0.74166	0.460000	0.39030	AAA		0.358	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		28	49	0	0	0	1	0	28	49				
ALPK2	115701	broad.mit.edu	37	18	56205156	56205156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr18:56205156C>T	ENST00000361673.3	-	5	2476	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	755						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGAGAACACACCTGGGGAC	0.502																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2263-2265)Gtg>Atg		alpha-kinase 2							226.0	213.0	217.0					18																	56205156		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56205156C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2263G>A	18.37:g.56205156C>T	ENSP00000354991:p.Val755Met					RP11-1151B14.4_ENST00000591360.1_RNA	p.V755M	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	2476	-			755					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.2263G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727346	0.30593	.	.	ENSG00000198796	ENST00000361673	T	0.43688	0.94	5.81	1.48	0.22813	.	2.809730	0.00868	N	0.001987	T	0.38295	0.1035	L	0.36672	1.1	0.09310	N	1	P;P	0.51449	0.945;0.776	P;B	0.45449	0.481;0.258	T	0.17018	-1.0383	10	0.48119	T	0.1	-0.101	4.2625	0.10747	0.0:0.499:0.1751:0.3259	.	755;755	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	M	755	ENSP00000354991:V755M	ENSP00000354991:V755M	V	-	1	0	ALPK2	54356136	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.459000	0.21908	0.213000	0.20722	0.591000	0.81541	GTG		0.502	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		6	121	0	0	0	1	0	6	121				
OLFML2A	169611	broad.mit.edu	37	9	127566456	127566456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127566456G>A	ENST00000373580.3	+	6	1003	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	335					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCCCAACTCCGCAGAGCAGGA	0.652																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1003-1005)Gca>Aca		olfactomedin-like 2A							56.0	52.0	53.0					9																	127566456		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127566456G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1003G>A	9.37:g.127566456G>A	ENSP00000362682:p.Ala335Thr					OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T	p.A335T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			6	1003	+			335					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1003G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343621	0.41498	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580;ENST00000288815	T;T;T	0.38401	1.14;1.14;1.14	4.84	-0.913	0.10500	.	0.694765	0.14360	N	0.324481	T	0.21145	0.0509	L	0.54323	1.7	0.09310	N	1	B;B;B	0.30033	0.266;0.001;0.014	B;B;B	0.21151	0.033;0.003;0.003	T	0.15093	-1.0449	10	0.17369	T	0.5	.	0.8529	0.01176	0.187:0.1554:0.3396:0.3179	.	299;121;335	Q5JTM7;Q68BL7-3;Q68BL7	.;.;OLM2A_HUMAN	T	299;299;335;121	ENSP00000336425:A299T;ENSP00000362682:A335T;ENSP00000288815:A121T	ENSP00000288815:A121T	A	+	1	0	OLFML2A	126606277	0.000000	0.05858	0.000000	0.03702	0.383000	0.30230	0.147000	0.16202	-0.068000	0.12953	0.563000	0.77884	GCA		0.652	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		47	22	0	0	0	1	0	47	22				
LRRIQ4	344657	broad.mit.edu	37	3	169540249	169540249	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:169540249C>T	ENST00000340806.6	+	1	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGAAGTTTTCCCCCAGGAGC	0.517																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(538-540)ttC>ttT		leucine-rich repeats and IQ motif containing 4							63.0	65.0	64.0					3																	169540249		1881	4110	5991	SO:0001819	synonymous_variant	344657							g.chr3:169540249C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.540C>T	3.37:g.169540249C>T							p.F180F	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	540	+			180						Silent	SNP	ENST00000340806.6	37	c.540C>T	CCDS46951.1																																																																																				0.517	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		48	252	0	0	0	1	0	48	252				
SELPLG	6404	broad.mit.edu	37	12	109016914	109016914	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:109016914C>A	ENST00000550948.1	-	2	1394	c.1170G>T	c.(1168-1170)ccG>ccT	p.P390P	SELPLG_ENST00000228463.6_Silent_p.P406P|SELPLG_ENST00000388962.3_Silent_p.P380P			Q14242	SELPL_HUMAN	selectin P ligand	390					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCGTCAGGCCCGGGCTCTTGG	0.642																																						ENST00000388962.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(1138-1140)ccG>ccT		selectin P ligand							33.0	34.0	33.0					12																	109016914		2202	4300	6502	SO:0001819	synonymous_variant	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109016914C>A		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.1170G>T	12.37:g.109016914C>A						SELPLG_ENST00000228463.6_Silent_p.P406P|SELPLG_ENST00000550948.1_Silent_p.P390P	p.P380P	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN			3	1299	-			390					A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	c.1140G>T	CCDS31895.2																																																																																				0.642	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			20	8	1	0	8.00594e-06	1	8.30805e-06	20	8				
KCNU1	157855	broad.mit.edu	37	8	36766941	36766941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:36766941C>G	ENST00000399881.3	+	21	2256	c.2219C>G	c.(2218-2220)gCc>gGc	p.A740G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	740					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTTGAGAGCCAGCAACTAT	0.458																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2218-2220)gCc>gGc		potassium channel, subfamily U, member 1							199.0	195.0	196.0					8																	36766941		1889	4109	5998	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766941C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2219C>G	8.37:g.36766941C>G	ENSP00000382770:p.Ala740Gly						p.A740G	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2256	+			740						Missense_Mutation	SNP	ENST00000399881.3	37	c.2219C>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244978	0.95272	.	.	ENSG00000215262	ENST00000399881	T	0.55413	0.52	5.8	5.8	0.92144	.	0.000000	0.37715	U	0.001963	T	0.69922	0.3165	M	0.85462	2.755	0.80722	D	1	D	0.58268	0.982	P	0.51415	0.669	T	0.74754	-0.3558	10	0.62326	D	0.03	-9.6585	19.6593	0.95859	0.0:1.0:0.0:0.0	.	740	A8MYU2	KCNU1_HUMAN	G	740	ENSP00000382770:A740G	ENSP00000382770:A740G	A	+	2	0	KCNU1	36886099	1.000000	0.71417	0.972000	0.41901	0.828000	0.46876	7.228000	0.78079	2.745000	0.94114	0.655000	0.94253	GCC		0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		106	247	0	0	0	1	0	106	247				
ARID1A	8289	broad.mit.edu	37	1	27089635	27089635	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:27089635G>T	ENST00000324856.7	+	8	2962	c.2591G>T	c.(2590-2592)gGc>gTc	p.G864V	ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V|ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	864					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTCCATGGGCAACCGGCCT	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2590-2592)gGc>gTc		AT rich interactive domain 1A (SWI-like)							80.0	67.0	71.0					1																	27089635		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27089635G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2591G>T	1.37:g.27089635G>T	ENSP00000320485:p.Gly864Val					ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V|ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V	p.G864V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	8	2962	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	864					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2591G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667903	0.67814	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03212	4.22;4.01;4.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.00011	-1.2443	10	0.46703	T	0.11	-10.0287	19.9142	0.97043	0.0:0.0:1.0:0.0	.	864;864;518	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	V	864;864;481	ENSP00000320485:G864V;ENSP00000387636:G864V;ENSP00000363267:G481V	ENSP00000320485:G864V	G	+	2	0	ARID1A	26962222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.235000	0.95353	2.941000	0.99782	0.655000	0.94253	GGC		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		15	15	1	0	1.5739e-10	1	1.70851e-10	15	15				
SF3B3	23450	broad.mit.edu	37	16	70590203	70590203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:70590203A>T	ENST00000302516.5	+	14	2043	c.1832A>T	c.(1831-1833)gAc>gTc	p.D611V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	611					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGGCTTGTGGACAACACTGTC	0.542																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1831-1833)gAc>gTc		splicing factor 3b, subunit 3, 130kDa							228.0	185.0	200.0					16																	70590203		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70590203A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1832A>T	16.37:g.70590203A>T	ENSP00000305790:p.Asp611Val						p.D611V	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			14	2043	+		Ovarian(137;0.0694)	611					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.1832A>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.912918	0.92178	.	.	ENSG00000189091	ENST00000302516	T	0.27890	1.64	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77854	-0.2433	10	0.87932	D	0	.	15.5219	0.75871	1.0:0.0:0.0:0.0	.	611	Q15393	SF3B3_HUMAN	V	611	ENSP00000305790:D611V	ENSP00000305790:D611V	D	+	2	0	SF3B3	69147704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.082000	0.62665	0.533000	0.62120	GAC		0.542	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		59	157	0	0	0	1	0	59	157				
LILRA4	23547	broad.mit.edu	37	19	54850163	54850163	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:54850163A>G	ENST00000291759.4	-	2	100	c.44T>C	c.(43-45)cTg>cCg	p.L15P	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	15					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGGGGCCCAGGCTCAGCCC	0.622											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(43-45)cTg>cCg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							65.0	70.0	69.0					19																	54850163		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54850163A>G	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.44T>C	19.37:g.54850163A>G	ENSP00000291759:p.Leu15Pro		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.L15P	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	2	100	-	Ovarian(34;0.19)		15					Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.44T>C	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	7.263	0.605556	0.14002	.	.	ENSG00000239961	ENST00000291759	T	0.00561	6.59	2.5	1.43	0.22495	.	0.780131	0.10868	N	0.625306	T	0.01029	0.0034	M	0.91090	3.175	0.09310	N	0.999999	B	0.14438	0.01	B	0.04013	0.001	T	0.37174	-0.9717	10	0.72032	D	0.01	.	5.485	0.16745	0.709:0.291:0.0:0.0	.	15	P59901	LIRA4_HUMAN	P	15	ENSP00000291759:L15P	ENSP00000291759:L15P	L	-	2	0	LILRA4	59541975	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-0.015000	0.12634	0.351000	0.24027	0.455000	0.32223	CTG		0.622	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		18	27	0	0	0	1	0	18	27				
RYR2	6262	broad.mit.edu	37	1	237949308	237949308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:237949308G>C	ENST00000366574.2	+	91	13617	c.13300G>C	c.(13300-13302)Gaa>Caa	p.E4434Q	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4434	Glu-rich (acidic).				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			agaaaaagaagaaACCAAATC	0.358																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(13300-13302)Gaa>Caa		ryanodine receptor 2 (cardiac)							116.0	120.0	119.0					1																	237949308		1828	4094	5922	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237949308G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13300G>C	1.37:g.237949308G>C	ENSP00000355533:p.Glu4434Gln					RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q	p.E4434Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		91	13617	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4434			Glu-rich (acidic).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13300G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697010	0.68386	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93859	-3.3;-3.3;-3.3	4.93	4.93	0.64822	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	D	0.000009	D	0.90714	0.7086	L	0.42245	1.32	0.80722	D	1	P;P	0.48089	0.905;0.905	P;P	0.44772	0.46;0.46	D	0.88843	0.3314	10	0.21540	T	0.41	-6.3732	15.2146	0.73254	0.0:0.0:1.0:0.0	.	1408;4434	B4DGV4;Q92736	.;RYR2_HUMAN	Q	4434;4440;4418;1408	ENSP00000355533:E4434Q;ENSP00000353174:E4440Q;ENSP00000443798:E4418Q	ENSP00000353174:E4440Q	E	+	1	0	RYR2	236015931	1.000000	0.71417	0.984000	0.44739	0.936000	0.57629	4.790000	0.62453	2.422000	0.82143	0.655000	0.94253	GAA		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	6	0	0	0	1	0	5	6				
ZNF285	26974	broad.mit.edu	37	19	44890792	44890792	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:44890792G>C	ENST00000330997.4	-	4	1679	c.1615C>G	c.(1615-1617)Ccc>Gcc	p.P539A	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	539					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(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTTATAGGGCCTCTCTCTT	0.438																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1615-1617)Ccc>Gcc		zinc finger protein 285							102.0	97.0	99.0					19																	44890792		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44890792G>C	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1615C>G	19.37:g.44890792G>C	ENSP00000333595:p.Pro539Ala					ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A|CTC-512J12.6_ENST00000588212.1_Intron	p.P539A	NM_152354.3	NP_689567.3					4	1679	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1615C>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587557	0.66105	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.16457	2.34	3.62	3.62	0.41486	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47619	0.1455	M	0.88310	2.945	0.28629	N	0.90774	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	T	0.49597	-0.8923	9	0.87932	D	0	.	14.4934	0.67667	0.0:0.0:1.0:0.0	.	563;539	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	A	562;539	ENSP00000333595:P539A	ENSP00000333595:P539A	P	-	1	0	ZNF285	49582632	0.998000	0.40836	0.997000	0.53966	0.978000	0.69477	2.629000	0.46485	1.759000	0.51996	0.454000	0.30748	CCC		0.438	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		36	27	0	0	0	1	0	36	27				
BARHL2	343472	broad.mit.edu	37	1	91178026	91178026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:91178026G>A	ENST00000370445.4	-	3	1048	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	336					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCTGTACATGGCAGCGGCAGC	0.647																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1006-1008)gCc>gTc		BarH-like homeobox 2							19.0	24.0	22.0					1																	91178026		2203	4298	6501	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91178026G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.1007C>T	1.37:g.91178026G>A	ENSP00000359474:p.Ala336Val						p.A336V	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	3	1048	-		all_lung(203;0.0263)|Lung SC(238;0.128)	336					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.1007C>T	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640717	0.67244	.	.	ENSG00000143032	ENST00000370445	D	0.91894	-2.93	5.4	5.4	0.78164	.	0.106984	0.64402	D	0.000007	D	0.85673	0.5751	L	0.34521	1.04	0.58432	D	0.999998	P	0.41978	0.767	B	0.43990	0.438	D	0.84359	0.0537	10	0.15499	T	0.54	.	19.1643	0.93548	0.0:0.0:1.0:0.0	.	336	Q9NY43	BARH2_HUMAN	V	336	ENSP00000359474:A336V	ENSP00000359474:A336V	A	-	2	0	BARHL2	90950614	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.178000	0.77657	2.706000	0.92434	0.561000	0.74099	GCC		0.647	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			7	15	0	0	0	1	0	7	15				
FAM178A	55719	broad.mit.edu	37	10	102684308	102684308	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:102684308A>G	ENST00000238961.4	+	5	2092	c.1550A>G	c.(1549-1551)gAa>gGa	p.E517G	FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	517						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CATTCTACAGAATCCACCAAA	0.393																																						ENST00000238961.3																			0											c.(1549-1551)gAa>gGa		family with sequence similarity 178, member A							89.0	92.0	91.0					10																	102684308		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102684308A>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1550A>G	10.37:g.102684308A>G	ENSP00000238961:p.Glu517Gly					FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G	p.E517G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1698	+			517					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1550A>G	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289651	0.40494	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.51071	0.72;1.36;1.35	6.03	3.4	0.38934	.	0.000000	0.52532	D	0.000062	T	0.41351	0.1155	L	0.27053	0.805	0.36049	D	0.840606	P;P;P;P	0.50272	0.933;0.779;0.779;0.933	P;B;B;P	0.49829	0.623;0.367;0.367;0.623	T	0.53401	-0.8444	10	0.72032	D	0.01	-9.6857	9.1649	0.37046	0.6946:0.0:0.0:0.3054	.	166;517;517;517	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	G	517	ENSP00000359294:E517G;ENSP00000238961:E517G;ENSP00000359292:E517G	ENSP00000238961:E517G	E	+	2	0	FAM178A	102674298	0.991000	0.36638	0.998000	0.56505	0.804000	0.45430	1.525000	0.35953	1.062000	0.40625	0.533000	0.62120	GAA		0.393	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			70	82	0	0	0	1	0	70	82				
MTHFD1L	25902	broad.mit.edu	37	6	151293189	151293189	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:151293189T>A	ENST00000367321.3	+	20	2394	c.2120T>A	c.(2119-2121)tTt>tAt	p.F707Y	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	707	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAAGAAGGATTTGTAGGTAAG	0.398																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2119-2121)tTt>tAt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							87.0	82.0	84.0					6																	151293189		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151293189T>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2120T>A	6.37:g.151293189T>A	ENSP00000356290:p.Phe707Tyr					MTHFD1L_ENST00000478643.1_3'UTR	p.F707Y	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	20	2394	+		Ovarian(120;0.128)	707			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.2120T>A	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	T	8.073	0.770737	0.15983	.	.	ENSG00000120254	ENST00000367321	T	0.17370	2.28	5.8	4.63	0.57726	.	0.164644	0.56097	D	0.000031	T	0.01870	0.0059	N	0.03967	-0.31	0.80722	D	1	P;B;B	0.35628	0.513;0.015;0.068	B;B;B	0.31869	0.137;0.107;0.093	T	0.29941	-0.9995	10	0.06891	T	0.86	.	10.0319	0.42105	0.2683:0.0:0.0:0.7317	.	708;462;707	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Y	707	ENSP00000356290:F707Y	ENSP00000356290:F707Y	F	+	2	0	MTHFD1L	151334882	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	3.040000	0.49799	1.011000	0.39340	0.533000	0.62120	TTT		0.398	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		19	50	0	0	0	1	0	19	50				
MYT1L	23040	broad.mit.edu	37	2	1843127	1843127	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:1843127C>A	ENST00000399161.2	-	21	3621	c.2874G>T	c.(2872-2874)ggG>ggT	p.G958G	MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	958					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCCGTCGCACCCGGGGACCG	0.617																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2872-2874)ggG>ggT		myelin transcription factor 1-like							38.0	45.0	43.0					2																	1843127		2020	4146	6166	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1843127C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2874G>T	2.37:g.1843127C>A						MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR	p.G958G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3621	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	958					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2874G>T																																																																																					0.617	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		30	53	1	0	2.68265e-12	1	2.95092e-12	30	53				
MYO18B	84700	broad.mit.edu	37	22	26242142	26242142	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr22:26242142C>G	ENST00000407587.2	+	19	3616	c.3447C>G	c.(3445-3447)ggC>ggG	p.G1149G	MYO18B_ENST00000335473.7_Silent_p.G1148G|MYO18B_ENST00000536101.1_Silent_p.G1148G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1148	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTGGAGGGCACCTCCCAGC	0.667																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3442-3444)ggC>ggG		myosin XVIIIB							28.0	34.0	32.0					22																	26242142		2023	4182	6205	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26242142C>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3447C>G	22.37:g.26242142C>G						MYO18B_ENST00000407587.2_Silent_p.G1149G|MYO18B_ENST00000536101.1_Silent_p.G1148G	p.G1148G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			19	3694	+			1148			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.3444C>G																																																																																					0.667	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	15	0	0	0	1	0	9	15				
KCNJ8	3764	broad.mit.edu	37	12	21918866	21918866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:21918866G>A	ENST00000240662.2	-	3	1411	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	356					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TCCAGCTCTCGGGCACTGCAC	0.463																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1066-1068)Cga>Tga		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						126.0	125.0	126.0					12																	21918866		2203	4300	6503	SO:0001587	stop_gained	3764					voltage-gated potassium channel complex		g.chr12:21918866G>A	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1066C>T	12.37:g.21918866G>A	ENSP00000240662:p.Arg356*					RP11-59N23.1_ENST00000542489.1_RNA	p.R356*	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1411	-			356					O00657	Nonsense_Mutation	SNP	ENST00000240662.2	37	c.1066C>T	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	G	38	7.081448	0.98051	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	.	.	.	5.55	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.4908	0.38958	0.0768:0.0:0.7024:0.2208	.	.	.	.	X	356	.	ENSP00000240662:R356X	R	-	1	2	KCNJ8	21810133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.614000	0.36911	1.581000	0.49865	0.655000	0.94253	CGA		0.463	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		72	152	0	0	0	1	0	72	152				
ZNF214	7761	broad.mit.edu	37	11	7021319	7021319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:7021319C>T	ENST00000278314.4	-	3	1910	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAAACCCTTTCCACAATCATG	0.413																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1594-1596)gGa>gAa		zinc finger protein 214							130.0	132.0	132.0					11																	7021319		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021319C>T	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1595G>A	11.37:g.7021319C>T	ENSP00000278314:p.Gly532Glu					ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E	p.G532E	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1910	-			532					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1595G>A	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101918	0.56183	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.58210	0.35;0.35	4.16	4.16	0.48862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41396	D	0.000890	T	0.61714	0.2369	L	0.38838	1.175	0.34362	D	0.691081	D	0.76494	0.999	D	0.74023	0.982	T	0.70015	-0.4988	10	0.49607	T	0.09	.	14.7528	0.69540	0.0:1.0:0.0:0.0	.	532	Q9UL59	ZN214_HUMAN	E	532	ENSP00000278314:G532E;ENSP00000445373:G532E	ENSP00000278314:G532E	G	-	2	0	ZNF214	6977895	0.989000	0.36119	0.999000	0.59377	0.922000	0.55478	2.200000	0.42724	2.607000	0.88179	0.561000	0.74099	GGA		0.413	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			56	41	0	0	0	1	0	56	41				
C17orf62	79415	broad.mit.edu	37	17	80401777	80401777	+	3'UTR	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:80401777G>C	ENST00000437807.2	-	0	984				C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000336995.7_Silent_p.P74P|C17orf62_ENST00000585064.1_3'UTR|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583359.1_5'Flank	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGCACACCGGGAATGTGCC	0.706																																						ENST00000336995.7																			0				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8						c.(220-222)ccC>ccG		chromosome 17 open reading frame 62																																				SO:0001624	3_prime_UTR_variant	79415					integral to membrane	protein binding	g.chr17:80401777G>C	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.*103C>G	17.37:g.80401777G>C						C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000585064.1_3'UTR|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583617.1_Intron	p.P74P			Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		6	669	-	Breast(20;0.00106)|all_neural(118;0.0804)		0					E1B6X3|Q96NR1	Silent	SNP	ENST00000437807.2	37	c.222C>G	CCDS32776.1																																																																																				0.706	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		8	168	0	0	0	1	0	8	168				
SI	6476	broad.mit.edu	37	3	164739124	164739124	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:164739124G>T	ENST00000264382.3	-	27	3209	c.3147C>A	c.(3145-3147)aaC>aaA	p.N1049K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1049	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGGTTGGAATGTTTAACGGTA	0.368										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3145-3147)aaC>aaA		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						232.0	231.0	231.0					3																	164739124		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739124G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3147C>A	3.37:g.164739124G>T	ENSP00000264382:p.Asn1049Lys	HNSCC(35;0.089)					p.N1049K	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			27	3209	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1049			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3147C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336832	0.24253	.	.	ENSG00000090402	ENST00000264382	T	0.12465	2.68	4.58	2.71	0.32032	Glycoside hydrolase-type carbohydrate-binding (1);	0.403342	0.27677	N	0.018315	T	0.18635	0.0447	M	0.72353	2.195	0.38188	D	0.939816	D	0.53462	0.96	P	0.48654	0.585	T	0.04796	-1.0926	10	0.42905	T	0.14	.	5.5467	0.17067	0.1712:0.0:0.6725:0.1562	.	1049	P14410	SUIS_HUMAN	K	1049	ENSP00000264382:N1049K	ENSP00000264382:N1049K	N	-	3	2	SI	166221818	0.318000	0.24598	1.000000	0.80357	0.280000	0.26924	0.020000	0.13466	1.122000	0.41944	0.585000	0.79938	AAC		0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		402	263	1	0	3.03833e-170	1	3.58088e-170	402	263				
ENTPD8	377841	broad.mit.edu	37	9	140327703	140327703	+	IGR	SNP	C	C	T	rs375618437		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:140327703C>T	ENST00000472938.1	-	0	1749				NOXA1_ENST00000341349.2_Silent_p.P299P|NOXA1_ENST00000392815.2_Silent_p.P243P			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTGAGGACCCCGCGGGTGCTG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15374	0.0		0.0	False		,,,				2504	0.001					ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(895-897)ccC>ccT		NADPH oxidase activator 1		C		1,4335		0,1,2167	9.0	11.0	11.0		897	-4.3	0.0	9		11	0,8554		0,0,4277	no	coding-synonymous	NOXA1	NM_006647.1		0,1,6444	TT,TC,CC		0.0,0.0231,0.0078		299/484	140327703	1,12889	2168	4277	6445	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140327703C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327703C>T						NOXA1_ENST00000392815.2_Silent_p.P243P	p.P299P	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	10	1077	+	all_cancers(76;0.0926)		299		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).			A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.897C>T	CCDS43913.1																																																																																				0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		4	13	0	0	0	1	0	4	13				
CD1A	909	broad.mit.edu	37	1	158226702	158226702	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:158226702A>T	ENST00000289429.5	+	4	1264	c.731A>T	c.(730-732)cAg>cTg	p.Q244L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	244	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAGCAGGAGCAGCAGGGCACT	0.642																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(730-732)cAg>cTg		CD1a molecule	Antithymocyte globulin(DB00098)						108.0	98.0	101.0					1																	158226702		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226702A>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.731A>T	1.37:g.158226702A>T	ENSP00000289429:p.Gln244Leu						p.Q244L	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			4	1264	+	all_hematologic(112;0.0378)		244			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.731A>T	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.419330	0.25552	.	.	ENSG00000158477	ENST00000289429	T	0.02890	4.12	3.8	2.63	0.31362	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.184484	0.26677	N	0.023066	T	0.01189	0.0039	L	0.42008	1.315	0.23346	N	0.997865	P	0.36392	0.551	B	0.38500	0.275	T	0.46596	-0.9180	10	0.59425	D	0.04	-4.6564	6.421	0.21744	0.7823:0.0:0.0:0.2177	.	244	P06126	CD1A_HUMAN	L	244	ENSP00000289429:Q244L	ENSP00000289429:Q244L	Q	+	2	0	CD1A	156493326	0.233000	0.23772	0.556000	0.28293	0.442000	0.32017	0.571000	0.23669	0.614000	0.30107	0.397000	0.26171	CAG		0.642	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		32	83	0	0	0	1	0	32	83				
PCDHB2	56133	broad.mit.edu	37	5	140475050	140475050	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140475050G>T	ENST00000194155.4	+	1	824	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAGGTCCGGCACGGCCCT	0.582																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(676-678)Ggc>Tgc									42.0	45.0	44.0					5																	140475050		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475050G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.676G>T	5.37:g.140475050G>T	ENSP00000194155:p.Gly226Cys						p.G226C	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	824	+			226			Cadherin 2.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.676G>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944327	0.53079	.	.	ENSG00000112852	ENST00000194155	T	0.54866	0.55	5.42	3.65	0.41850	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77818	0.4187	M	0.93854	3.465	0.42258	D	0.992	D	0.89917	1.0	D	0.97110	1.0	T	0.82604	-0.0375	9	0.87932	D	0	.	12.2982	0.54860	0.1401:0.0:0.8599:0.0	.	226	Q9Y5E7	PCDB2_HUMAN	C	226	ENSP00000194155:G226C	ENSP00000194155:G226C	G	+	1	0	PCDHB2	140455234	1.000000	0.71417	0.952000	0.39060	0.517000	0.34286	6.745000	0.74860	0.782000	0.33613	-0.122000	0.15005	GGC		0.582	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		11	27	1	0	4.68919e-08	1	4.95972e-08	11	27				
NRDE2	55051	broad.mit.edu	37	14	90767686	90767686	+	Missense_Mutation	SNP	C	C	T	rs150270537		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:90767686C>T	ENST00000354366.3	-	7	1674	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	NRDE2_ENST00000357904.3_Missense_Mutation_p.R250Q	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	481																	GCCAGCCTGCCGCAGAAAGTG	0.517																																						ENST00000354366.3																			0											c.(1441-1443)cGg>cAg		NRDE-2, necessary for RNA interference, domain containing		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	53.0	55.0		1442,749	5.5	1.0	14	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	C14orf102	NM_017970.3,NM_199043.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	481/1165,250/934	90767686	1,13005	2203	4300	6503	SO:0001583	missense	55051							g.chr14:90767686C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1442G>A	14.37:g.90767686C>T	ENSP00000346335:p.Arg481Gln					NRDE2_ENST00000357904.3_Missense_Mutation_p.R250Q	p.R481Q	NM_017970.3	NP_060440.2					7	1674	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1442G>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827540	0.71143	2.27E-4	0.0	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.32515	1.45;1.45	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);Domain of unknown function DUF1740 (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.60188	-0.7312	10	0.48119	T	0.1	-33.725	19.7622	0.96325	0.0:1.0:0.0:0.0	.	481	Q9H7Z3	CN102_HUMAN	Q	481;250;60	ENSP00000346335:R481Q;ENSP00000350579:R250Q	ENSP00000346335:R481Q	R	-	2	0	C14orf102	89837439	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.746000	0.68681	2.732000	0.93576	0.650000	0.86243	CGG		0.517	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		21	31	0	0	0	1	0	21	31				
OLFML2A	169611	broad.mit.edu	37	9	127557384	127557384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127557384G>A	ENST00000373580.3	+	3	436	c.436G>A	c.(436-438)Gcc>Acc	p.A146T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	146					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACAAGGTGGCCTCCCAGAT	0.652																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(436-438)Gcc>Acc		olfactomedin-like 2A							27.0	28.0	27.0					9																	127557384		2009	4168	6177	SO:0001583	missense	169611							g.chr9:127557384G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.436G>A	9.37:g.127557384G>A	ENSP00000362682:p.Ala146Thr						p.A146T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			3	436	+			146					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.436G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377783	0.82682	.	.	ENSG00000185585	ENST00000373580	T	0.44881	0.91	4.96	4.96	0.65561	.	0.216008	0.40144	N	0.001172	T	0.37972	0.1023	L	0.43923	1.385	0.80722	D	1	P	0.44627	0.839	B	0.39379	0.298	T	0.23013	-1.0200	10	0.39692	T	0.17	.	17.6345	0.88118	0.0:0.0:1.0:0.0	.	146	Q68BL7	OLM2A_HUMAN	T	146	ENSP00000362682:A146T	ENSP00000362682:A146T	A	+	1	0	OLFML2A	126597205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.427000	0.80284	2.669000	0.90835	0.563000	0.77884	GCC		0.652	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		8	15	0	0	0	1	0	8	15				
PCED1B	91523	broad.mit.edu	37	12	47629946	47629946	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:47629946T>C	ENST00000546455.1	+	4	1831	c.1100T>C	c.(1099-1101)tTc>tCc	p.F367S	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.F367S			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	367	Pro-rich.						hydrolase activity (GO:0016787)										CATGCAGGTTTCTTCGTCGAA	0.522																																						ENST00000546455.1																			0											c.(1099-1101)tTc>tCc		PC-esterase domain containing 1B							159.0	156.0	157.0					12																	47629946		2203	4300	6503	SO:0001583	missense	91523							g.chr12:47629946T>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1100T>C	12.37:g.47629946T>C	ENSP00000446688:p.Phe367Ser					PCED1B_ENST00000432328.1_Missense_Mutation_p.F367S	p.F367S							4	1831	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1100T>C	CCDS8752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.15|14.15	2.449154|2.449154	0.43531|0.43531	.|.	.|.	ENSG00000179715|ENSG00000179715	ENST00000546455;ENST00000432328|ENST00000330951	T;T|.	0.32023|.	1.47;1.47|.	3.93|3.93	2.74|2.74	0.32292|0.32292	.|.	0.976907|.	0.08293|.	N|.	0.968200|.	T|T	0.28699|0.28699	0.0711|0.0711	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	D|.	0.64830|.	0.994|.	P|.	0.59889|.	0.865|.	T|T	0.21930|0.21930	-1.0231|-1.0231	10|6	0.22109|0.72032	T|D	0.4|0.01	-4.4189|-4.4189	6.3902|6.3902	0.21583|0.21583	0.2291:0.0:0.0:0.7709|0.2291:0.0:0.0:0.7709	.|.	367|.	Q96HM7|.	F113B_HUMAN|.	S|P	367|211	ENSP00000446688:F367S;ENSP00000396040:F367S|.	ENSP00000396040:F367S|ENSP00000328560:S211P	F|S	+|+	2|1	0|0	FAM113B|FAM113B	45916213|45916213	0.065000|0.065000	0.20965|0.20965	0.006000|0.006000	0.13384|0.13384	0.003000|0.003000	0.03518|0.03518	1.639000|1.639000	0.37176|0.37176	0.822000|0.822000	0.34565|0.34565	0.533000|0.533000	0.62120|0.62120	TTC|TCT		0.522	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		58	168	0	0	0	1	0	58	168				
ZNF83	55769	broad.mit.edu	37	19	53117347	53117347	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:53117347G>A	ENST00000597597.1	-	2	2724	c.471C>T	c.(469-471)gtC>gtT	p.V157V	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.V157V			P51522	ZNF83_HUMAN	zinc finger protein 83	157					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TATTATGGAAGACCTTGCCAC	0.353																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(469-471)gtC>gtT		zinc finger protein 83							65.0	64.0	65.0					19																	53117347		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117347G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.471C>T	19.37:g.53117347G>A						ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.V157V	p.V157V			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2724	-			157					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.471C>T	CCDS12854.1																																																																																				0.353	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		28	24	0	0	0	1	0	28	24				
CDH8	1006	broad.mit.edu	37	16	61859022	61859022	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:61859022A>T	ENST00000577390.1	-	5	1683	c.729T>A	c.(727-729)gtT>gtA	p.V243V	CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000299345.6_Silent_p.V243V|CDH8_ENST00000577730.1_Silent_p.V243V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGCTTGGATAACAACCAGGT	0.458																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(727-729)gtT>gtA		cadherin 8, type 2							132.0	116.0	122.0					16																	61859022		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61859022A>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.729T>A	16.37:g.61859022A>T						CDH8_ENST00000577730.1_Silent_p.V243V|CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000299345.6_Silent_p.V243V	p.V243V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	1683	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	243			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.729T>A	CCDS10802.1																																																																																				0.458	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		31	84	0	0	0	1	0	31	84				
AGL	178	broad.mit.edu	37	1	100358058	100358058	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:100358058A>G	ENST00000294724.4	+	24	3632	c.3154A>G	c.(3154-3156)Aaa>Gaa	p.K1052E	AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000361522.4_Missense_Mutation_p.K1035E|AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E|AGL_ENST00000370163.3_Missense_Mutation_p.K1052E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1052					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAGTAGGAAAATTCCCTTC	0.378																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(3154-3156)Aaa>Gaa		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							111.0	105.0	107.0					1																	100358058		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100358058A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3154A>G	1.37:g.100358058A>G	ENSP00000294724:p.Lys1052Glu					AGL_ENST00000361522.4_Missense_Mutation_p.K1035E|AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E|AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000370163.3_Missense_Mutation_p.K1052E	p.K1052E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	24	3632	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1052					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3154A>G	CCDS759.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035744	0.54896	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.2	5.2	0.72013	.	0.239362	0.42682	D	0.000678	T	0.65964	0.2742	M	0.75264	2.295	0.43149	D	0.994912	B;B;B	0.22683	0.073;0.073;0.027	B;B;B	0.27715	0.049;0.049;0.082	T	0.67369	-0.5688	10	0.38643	T	0.18	.	15.3636	0.74503	1.0:0.0:0.0:0.0	.	1035;1036;1052	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	E	1052;1052;1052;1052;1036;1036;1035	ENSP00000355106:K1052E;ENSP00000359184:K1052E;ENSP00000359182:K1052E;ENSP00000294724:K1052E;ENSP00000354971:K1036E;ENSP00000359180:K1036E;ENSP00000354635:K1035E	ENSP00000294724:K1052E	K	+	1	0	AGL	100130646	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	6.350000	0.73017	2.065000	0.61736	0.467000	0.42956	AAA		0.378	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		55	54	0	0	0	1	0	55	54				
LINGO4	339398	broad.mit.edu	37	1	151774779	151774779	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:151774779C>T	ENST00000368820.3	-	2	1339	c.402G>A	c.(400-402)ctG>ctA	p.L134L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	134						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGCAGGGTCAGAGCAGAGA	0.597																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(400-402)ctG>ctA		leucine rich repeat and Ig domain containing 4							76.0	81.0	79.0					1																	151774779		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774779C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.402G>A	1.37:g.151774779C>T							p.L134L	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1339	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		134						Silent	SNP	ENST00000368820.3	37	c.402G>A	CCDS30855.1																																																																																				0.597	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		82	89	0	0	0	1	0	82	89				
ENTPD8	377841	broad.mit.edu	37	9	140327704	140327704	+	IGR	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:140327704G>T	ENST00000472938.1	-	0	1749				NOXA1_ENST00000341349.2_Missense_Mutation_p.A300S|NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGAGGACCCCGCGGGTGCTGG	0.652																																						ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(898-900)Gcg>Tcg		NADPH oxidase activator 1							9.0	11.0	11.0					9																	140327704		2167	4281	6448	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140327704G>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327704G>T						NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S	p.A300S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	10	1078	+	all_cancers(76;0.0926)		300		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).			A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.898G>T	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.303645	0.01353	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.85411	-1.9;-1.98	2.74	-3.51	0.04696	.	2.026620	0.02427	N	0.083129	T	0.68183	0.2973	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15473	0.008;0.013;0.002	B;B;B	0.17722	0.013;0.019;0.015	T	0.60954	-0.7160	10	0.07030	T	0.85	.	4.8455	0.13512	0.0:0.3418:0.2428:0.4154	.	244;300;300	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	S	300;244	ENSP00000342848:A300S;ENSP00000376562:A244S	ENSP00000342848:A300S	A	+	1	0	NOXA1	139447525	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.750000	0.00376	-0.443000	0.07180	0.561000	0.74099	GCG		0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		4	13	1	0	0.00024832	1	0.000254489	4	13				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	82	0	0	0	1	0	5	82				
TIAM2	26230	broad.mit.edu	37	6	155451295	155451295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:155451295C>T	ENST00000461783.3	+	6	2211	c.938C>T	c.(937-939)cCc>cTc	p.P313L	TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	313					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCTCTCCCCCTCAGGTATC	0.557																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(937-939)cCc>cTc		T-cell lymphoma invasion and metastasis 2							67.0	62.0	63.0					6																	155451295		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451295C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.938C>T	6.37:g.155451295C>T	ENSP00000437188:p.Pro313Leu					TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L	p.P313L			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2211	+		Ovarian(120;0.196)	313					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.938C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694519	0.48202	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05925	3.47;3.37;3.43;3.47;3.47;3.43	4.85	4.85	0.62838	.	0.060879	0.64402	D	0.000002	T	0.11965	0.0291	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	P	0.56163	0.793	T	0.00975	-1.1494	10	0.59425	D	0.04	.	16.5388	0.84380	0.0:1.0:0.0:0.0	.	313	Q8IVF5	TIAM2_HUMAN	L	313;559;313;313;313;313;313	ENSP00000437188:P313L;ENSP00000434901:P313L;ENSP00000407746:P313L;ENSP00000327315:P313L;ENSP00000353528:P313L;ENSP00000433348:P313L	ENSP00000327315:P313L	P	+	2	0	TIAM2	155492987	0.296000	0.24398	0.008000	0.14137	0.006000	0.05464	5.003000	0.63959	2.401000	0.81631	0.655000	0.94253	CCC		0.557	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		24	41	0	0	0	1	0	24	41				
RPL23AP53	644128	broad.mit.edu	37	8	163387	163387	+	RNA	SNP	C	C	T	rs3008286	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:163387C>T	ENST00000606975.1	-	0	534									ribosomal protein L23a pseudogene 53																		CACAGCCTGTCTGATCTGGTG	0.468													.|||	3332	0.665335	0.4697	0.7392	5008	,	,		14743	0.8006		0.6909	False		,,,				2504	0.7117					ENST00000606975.1																			0																																																			644128							g.chr8:163387C>T			8p23.3	2014-06-17			ENSG00000223508	ENSG00000223508			35921	pseudogene	pseudogene						19123937	Standard	NR_003572		Approved		uc010lrb.4				8.37:g.163387C>T														0	534	-									RNA	SNP	ENST00000606975.1	37																																																																																						0.468	RPL23AP53-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470409.1	NR_003572		4	23	0	0	0	1	0	4	23				
MRPS2	51116	broad.mit.edu	37	9	138395504	138395504	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:138395504A>T	ENST00000371785.1	+	5	625	c.416A>T	c.(415-417)aAg>aTg	p.K139M	MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	139					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GCCTACCGCAAGGGCATCATC	0.577																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(415-417)aAg>aTg		mitochondrial ribosomal protein S2							107.0	81.0	90.0					9																	138395504		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395504A>T	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.416A>T	9.37:g.138395504A>T	ENSP00000360850:p.Lys139Met					MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M|RP11-426A6.5_ENST00000415062.1_RNA	p.K139M			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	625	+			139					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.416A>T	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138863	0.56936	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.33216	1.42;1.42;1.42	3.8	1.41	0.22369	Ribosomal protein S2, flavodoxin-like domain (1);	0.308466	0.35677	N	0.003056	T	0.53094	0.1775	M	0.87971	2.92	0.33057	D	0.533574	D;D	0.76494	0.999;0.998	D;D	0.68192	0.956;0.939	T	0.63202	-0.6690	10	0.72032	D	0.01	-17.2148	7.5765	0.27939	0.7195:0.0:0.2805:0.0	.	153;139	Q5T8A0;Q9Y399	.;RT02_HUMAN	M	139;139;153	ENSP00000360850:K139M;ENSP00000241600:K139M;ENSP00000400082:K153M	ENSP00000241600:K139M	K	+	2	0	MRPS2	137535325	0.983000	0.35010	0.982000	0.44146	0.969000	0.65631	1.875000	0.39578	0.112000	0.17975	0.467000	0.42956	AAG		0.577	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			26	60	0	0	0	1	0	26	60				
TBC1D3P5	440419	broad.mit.edu	37	17	25749187	25749187	+	RNA	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:25749187G>A	ENST00000586223.1	+	0	1088					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GAGTGTATAAGGGCATTCCCA	0.498																																						ENST00000586223.1																			0																																																			440419							g.chr17:25749187G>A			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25749187G>A								NR_033892.1						0	1088	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.498	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		7	25	0	0	0	1	0	7	25				
KIAA0368	23392	broad.mit.edu	37	9	114173351	114173351	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:114173351T>G	ENST00000338205.5	-	21	2505	c.2286A>C	c.(2284-2286)aaA>aaC	p.K762N	KIAA0368_ENST00000259335.4_Missense_Mutation_p.K940N|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000374378.3_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	768					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATTCTCATTTTCTTTTTAG	0.418																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2818-2820)aaA>aaC		KIAA0368							270.0	255.0	260.0					9																	114173351		1921	4132	6053	SO:0001583	missense	23392							g.chr9:114173351T>G	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2286A>C	9.37:g.114173351T>G	ENSP00000339889:p.Lys762Asn					KIAA0368_ENST00000338205.5_Missense_Mutation_p.K762N	p.K940N	NM_001080398.1	NP_001073867.1					23	2819	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.2820A>C		.	.	.	.	.	.	.	.	.	.	T	14.94	2.683974	0.47991	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66099	-0.19	5.21	2.64	0.31445	.	0.122259	0.53938	D	0.000047	T	0.52058	0.1711	L	0.51422	1.61	0.80722	D	1	B	0.19200	0.034	B	0.18561	0.022	T	0.44267	-0.9339	10	0.52906	T	0.07	.	7.4152	0.27040	0.0:0.2848:0.0:0.7152	.	237	B3KXF2	.	N	762;940;237	ENSP00000259335:K940N	ENSP00000259335:K940N	K	-	3	2	KIAA0368	113213172	0.983000	0.35010	0.970000	0.41538	0.900000	0.52787	1.660000	0.37397	0.218000	0.20820	0.402000	0.26972	AAA		0.418	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		199	180	0	0	0	1	0	199	180				
EVPL	2125	broad.mit.edu	37	17	74019475	74019475	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:74019475C>T	ENST00000301607.3	-	4	631	c.378G>A	c.(376-378)gtG>gtA	p.V126V	EVPL_ENST00000586740.1_Silent_p.V126V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	126	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ACTCCTGGGTCACCCGCTCGT	0.672																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(376-378)gtG>gtA		envoplakin							73.0	76.0	75.0					17																	74019475		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74019475C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.378G>A	17.37:g.74019475C>T						EVPL_ENST00000586740.1_Silent_p.V126V	p.V126V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			4	631	-			126			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.378G>A	CCDS11737.1																																																																																				0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		38	54	0	0	0	1	0	38	54				
PAPPA	5069	broad.mit.edu	37	9	119065052	119065052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:119065052C>A	ENST00000328252.3	+	10	3339	c.2970C>A	c.(2968-2970)tgC>tgA	p.C990*	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	990					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGCCGGTGCTATTTCCATG	0.458																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2968-2970)tgC>tgA		pregnancy-associated plasma protein A, pappalysin 1							87.0	79.0	82.0					9																	119065052		2203	4300	6503	SO:0001587	stop_gained	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065052C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2970C>A	9.37:g.119065052C>A	ENSP00000330658:p.Cys990*					RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28*	p.C990*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			10	3339	+			990					B1AMF9|Q08371|Q68G52|Q9UDK7	Nonsense_Mutation	SNP	ENST00000328252.3	37	c.2970C>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	45	11.459164	0.99564	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	.	.	.	6.06	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1656	12.1633	0.54115	0.0:0.8103:0.0:0.1897	.	.	.	.	X	990;434;28	.	ENSP00000330658:C990X	C	+	3	2	PAPPA	118104873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.296000	0.33389	1.563000	0.49615	0.650000	0.86243	TGC		0.458	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		21	59	1	0	2.70639e-06	1	2.8263e-06	21	59				
KCNJ2	3759	broad.mit.edu	37	17	68171810	68171810	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:68171810G>A	ENST00000243457.3	+	2	1013	c.630G>A	c.(628-630)ttG>ttA	p.L210L	KCNJ2_ENST00000535240.1_Silent_p.L210L	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	210					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGCTGTGTTTGATGTGGCGAG	0.498																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(628-630)ttG>ttA		potassium inwardly-rectifying channel, subfamily J, member 2							118.0	100.0	106.0					17																	68171810		2203	4300	6503	SO:0001819	synonymous_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171810G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.630G>A	17.37:g.68171810G>A						KCNJ2_ENST00000535240.1_Silent_p.L210L	p.L210L	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	1013	+	Breast(10;1.64e-08)		210					O15110|P48049	Silent	SNP	ENST00000243457.3	37	c.630G>A	CCDS11688.1																																																																																				0.498	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		29	62	0	0	0	1	0	29	62				
RREB1	6239	broad.mit.edu	37	6	7231221	7231221	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:7231221G>A	ENST00000349384.6	+	10	3203	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	RREB1_ENST00000379933.3_Silent_p.A963A|RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000379938.2_Silent_p.A963A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	963					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGAGGAGGCGGGGAGCAGCG	0.632																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2887-2889)gcG>gcA		ras responsive element binding protein 1							27.0	29.0	28.0					6																	7231221		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231221G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2889G>A	6.37:g.7231221G>A						RREB1_ENST00000379933.3_Silent_p.A963A|RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000349384.6_Silent_p.A963A	p.A963A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	3426	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	963					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.2889G>A	CCDS34336.1																																																																																				0.632	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			12	4	0	0	0	1	0	12	4				
FAF2	23197	broad.mit.edu	37	5	175913467	175913467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:175913467G>A	ENST00000261942.6	+	3	297	c.244G>A	c.(244-246)Gtt>Att	p.V82I	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	82					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTACAGCTATGTTGTCTCAAG	0.443																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(244-246)Gtt>Att		Fas associated factor family member 2							136.0	115.0	122.0					5																	175913467		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175913467G>A	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.244G>A	5.37:g.175913467G>A	ENSP00000261942:p.Val82Ile					FAF2_ENST00000510446.1_3'UTR	p.V82I	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			3	297	+			82					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.244G>A	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534182	0.64972	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	0.105089	0.64402	D	0.000005	T	0.52354	0.1729	L	0.27053	0.805	0.50632	D	0.99988	B	0.09022	0.002	B	0.06405	0.002	T	0.42310	-0.9459	8	.	.	.	-17.7321	20.6243	0.99512	0.0:0.0:1.0:0.0	.	82	Q96CS3	FAF2_HUMAN	I	82	.	.	V	+	1	0	FAF2	175846073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.244000	0.78228	2.879000	0.98667	0.650000	0.86243	GTT		0.443	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		37	53	0	0	0	1	0	37	53				
CDH3	1001	broad.mit.edu	37	16	68729736	68729736	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:68729736C>T	ENST00000264012.4	+	15	2734	c.2190C>T	c.(2188-2190)ctC>ctT	p.L730L	CDH3_ENST00000581171.1_Silent_p.L675L|CDH3_ENST00000429102.2_Silent_p.L730L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	730					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGGTGGTTCTCCGCAATGACG	0.582																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(2188-2190)ctC>ctT		cadherin 3, type 1, P-cadherin (placental)							115.0	85.0	95.0					16																	68729736		2198	4300	6498	SO:0001819	synonymous_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68729736C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2190C>T	16.37:g.68729736C>T						CDH3_ENST00000429102.2_Silent_p.L730L|CDH3_ENST00000581171.1_Silent_p.L675L	p.L730L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	15	2734	+		Ovarian(137;0.0564)	730					B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.2190C>T	CCDS10868.1																																																																																				0.582	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		48	56	0	0	0	1	0	48	56				
DSCAM	1826	broad.mit.edu	37	21	41684252	41684252	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr21:41684252T>C	ENST00000400454.1	-	9	2295	c.1818A>G	c.(1816-1818)agA>agG	p.R606R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	606	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAATGGAGAATCTTGGAAACT	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1816-1818)agA>agG		Down syndrome cell adhesion molecule							40.0	37.0	38.0					21																	41684252		1872	4115	5987	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684252T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1818A>G	21.37:g.41684252T>C							p.R606R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			9	2295	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	606			Ig-like C2-type 7.		O60468	Silent	SNP	ENST00000400454.1	37	c.1818A>G	CCDS42929.1																																																																																				0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		16	42	0	0	0	1	0	16	42				
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:14316390T>A	ENST00000256196.4	-	3	528	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000545643.1_Missense_Mutation_p.Q78L|RRAS2_ENST00000532814.1_5'UTR			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72			Q -> L (in an ovarian cancer sample; somatic mutation). {ECO:0000269|PubMed:8052619}.		osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393																																						ENST00000545643.1																			2	Substitution - Missense(2)	p.Q72L(2)	lung(1)|endometrium(1)	breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(232-234)cAa>cTa		related RAS viral (r-ras) oncogene homolog 2							116.0	118.0	117.0					11																	14316390		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316390T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.215A>T	11.37:g.14316390T>A	ENSP00000256196:p.Gln72Leu					RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L	p.Q78L	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	546	-			72					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.233A>T	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861739	0.91433	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.97365	3.99	0.80722	D	1	D;P	0.67145	0.996;0.946	D;P	0.63033	0.91;0.473	D	0.95850	0.8874	10	0.87932	D	0	.	15.3905	0.74739	0.0:0.0:0.0:1.0	.	78;72	B7Z5Z2;P62070	.;RRAS2_HUMAN	L	37;78;72;53	ENSP00000437547:Q37L;ENSP00000441722:Q78L;ENSP00000256196:Q72L;ENSP00000435453:Q53L	ENSP00000256196:Q72L	Q	-	2	0	RRAS2	14272966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.702000	0.84576	2.127000	0.65507	0.402000	0.26972	CAA		0.393	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		37	38	0	0	0	1	0	37	38				
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	rs201835225	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15988	0.0		0.001	False		,,,				2504	0.001				Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			1	Substitution - Missense(1)	p.R569W(1)	prostate(1)	NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1705-1707)Cgg>Tgg		solute carrier family 5 (sodium/iodide cotransporter), member 5		C	TRP/ARG	0,4406		0,0,2203	116.0	112.0	113.0		1705	1.2	0.0	19		113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A5	NM_000453.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	569/644	18001748	1,13005	2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001748C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1705C>T	19.37:g.18001748C>T	ENSP00000222248:p.Arg569Trp						p.R569W	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			14	2052	+			569					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1705C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066877	0.36470	0.0	1.16E-4	ENSG00000105641	ENST00000222248	D	0.87029	-2.2	4.71	1.18	0.20946	.	22.923100	0.00166	N	0.000010	D	0.85026	0.5603	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.42653	0.394	T	0.70561	-0.4838	10	0.54805	T	0.06	.	5.1415	0.14961	0.5241:0.3652:0.0:0.1107	.	569	Q92911	SC5A5_HUMAN	W	569	ENSP00000222248:R569W	ENSP00000222248:R569W	R	+	1	2	SLC5A5	17862748	0.002000	0.14202	0.002000	0.10522	0.663000	0.39108	0.255000	0.18333	0.148000	0.19059	0.491000	0.48974	CGG		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			44	92	0	0	0	1	0	44	92				
RNF24	11237	broad.mit.edu	37	20	3914726	3914726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:3914726G>A	ENST00000336095.6	-	6	682	c.431C>T	c.(430-432)gCa>gTa	p.A144V	RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.2_Missense_Mutation_p.A165V	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	144						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						AATGTTCTCTGCCCCAGGAAG	0.562																																						ENST00000336095.5																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(430-432)gCa>gTa		ring finger protein 24							83.0	81.0	82.0					20																	3914726		2203	4300	6503	SO:0001583	missense	11237					Golgi membrane|integral to membrane	zinc ion binding	g.chr20:3914726G>A	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.431C>T	20.37:g.3914726G>A	ENSP00000336753:p.Ala144Val					RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.1_Missense_Mutation_p.A165V	p.A144V	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN			6	682	-			144					D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	c.431C>T	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789592	0.31685	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.24723	1.87;1.87;1.84;1.84	5.57	5.57	0.84162	.	0.306242	0.34828	N	0.003644	T	0.20373	0.0490	N	0.24115	0.695	0.41888	D	0.990354	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.02705	-1.1121	10	0.37606	T	0.19	-8.9734	17.019	0.86428	0.0:0.0:1.0:0.0	.	165;144	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	V	144;144;165;165	ENSP00000336753:A144V;ENSP00000351166:A144V;ENSP00000444711:A165V;ENSP00000388550:A165V	ENSP00000336753:A144V	A	-	2	0	RNF24	3862726	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.460000	0.66691	2.605000	0.88082	0.591000	0.81541	GCA		0.562	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2			55	88	0	0	0	1	0	55	88				
SKIL	6498	broad.mit.edu	37	3	170102443	170102443	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:170102443A>G	ENST00000458537.3	+	3	2028	c.1319A>G	c.(1318-1320)aAg>aGg	p.K440R	SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000259119.4_Missense_Mutation_p.K440R|SKIL_ENST00000413427.2_Intron	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	440					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGTCAGAGAAGGCTCACAGT	0.398																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(1318-1320)aAg>aGg		SKI-like oncogene							153.0	146.0	148.0					3																	170102443		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170102443A>G	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1319A>G	3.37:g.170102443A>G	ENSP00000415243:p.Lys440Arg					SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000413427.2_Intron|SKIL_ENST00000259119.4_Missense_Mutation_p.K440R	p.K440R	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	2028	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		440					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.1319A>G	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420056	0.42918	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000458537	D;D;D	0.91843	-2.92;-2.91;-2.92	5.84	4.65	0.58169	.	0.434976	0.28414	N	0.015424	D	0.91171	0.7219	L	0.53249	1.67	0.38195	D	0.940022	D	0.60575	0.988	P	0.50049	0.629	D	0.89195	0.3553	10	0.18276	T	0.48	-15.9959	13.3411	0.60545	0.8683:0.1317:0.0:0.0	.	440	P12757	SKIL_HUMAN	R	440;420;440	ENSP00000259119:K440R;ENSP00000406520:K420R;ENSP00000415243:K440R	ENSP00000259119:K440R	K	+	2	0	SKIL	171585137	0.997000	0.39634	0.988000	0.46212	0.702000	0.40608	3.620000	0.54203	1.107000	0.41642	0.528000	0.53228	AAG		0.398	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		52	426	0	0	0	1	0	52	426				
COL14A1	7373	broad.mit.edu	37	8	121228628	121228628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:121228628G>A	ENST00000297848.3	+	14	1906	c.1636G>A	c.(1636-1638)Gtt>Att	p.V546I	COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCTCCAATGTTGGCTCTAA	0.353																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1636-1638)Gtt>Att		collagen, type XIV, alpha 1							113.0	104.0	107.0					8																	121228628		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121228628G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1636G>A	8.37:g.121228628G>A	ENSP00000297848:p.Val546Ile					COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I	p.V546I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		14	1906	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		546			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1636G>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.638253|1.638253	0.29157|0.29157	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.29|5.29	-2.27|-2.27	0.06846|0.06846	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.595348	.|0.17949	.|N	.|0.156594	T|T	0.35189|0.35189	0.0923|0.0923	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12013	.|0.005;0.002	.|B;B	.|0.18263	.|0.021;0.017	T|T	0.08680|0.08680	-1.0710|-1.0710	5|10	.|0.22109	.|T	.|0.4	.|.	13.1445|13.1445	0.59452|0.59452	0.4941:0.0:0.5059:0.0|0.4941:0.0:0.5059:0.0	.|.	.|546;546	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	Y|I	302|546;546;451;359	.|ENSP00000311809:V546I;ENSP00000297848:V546I;ENSP00000247781:V451I;ENSP00000409461:V359I	.|ENSP00000247781:V451I	C|V	+|+	2|1	0|0	COL14A1|COL14A1	121297809|121297809	0.032000|0.032000	0.19561|0.19561	0.442000|0.442000	0.26870|0.26870	0.839000|0.839000	0.47603|0.47603	-0.042000|-0.042000	0.12063|0.12063	-1.082000|-1.082000	0.03101|0.03101	-0.797000|-0.797000	0.03246|0.03246	TGT|GTT		0.353	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		57	80	0	0	0	1	0	57	80				
FOXP4	116113	broad.mit.edu	37	6	41557787	41557787	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:41557787G>A	ENST00000307972.4	+	10	1248	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	FOXP4_ENST00000373057.3_Silent_p.P410P|FOXP4_ENST00000373063.3_Silent_p.P399P|FOXP4_ENST00000373060.1_Silent_p.P412P|FOXP4_ENST00000409208.1_Silent_p.P400P			Q8IVH2	FOXP4_HUMAN	forkhead box P4	412					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCACCCCCCGACCTCGGCCG	0.672																																						ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1234-1236)ccG>ccA		forkhead box P4							35.0	38.0	37.0					6																	41557787		2203	4300	6503	SO:0001819	synonymous_variant	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41557787G>A	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1236G>A	6.37:g.41557787G>A						FOXP4_ENST00000409208.1_Silent_p.P400P|FOXP4_ENST00000307972.4_Silent_p.P412P|FOXP4_ENST00000373063.3_Silent_p.P399P|FOXP4_ENST00000373057.3_Silent_p.P410P	p.P412P	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			11	1694	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		412					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Silent	SNP	ENST00000307972.4	37	c.1236G>A	CCDS34447.1																																																																																				0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		4	48	0	0	0	1	0	4	48				
RASA3	22821	broad.mit.edu	37	13	114758033	114758033	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:114758033C>G	ENST00000334062.7	-	22	2294	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	RASA3_ENST00000389544.4_Missense_Mutation_p.D693H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	725					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CGGTCCCCATCAATGTCCAGC	0.483																																						ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2173-2175)Gat>Cat		RAS p21 protein activator 3							103.0	77.0	85.0					13																	114758033		2202	4299	6501	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114758033C>G		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2173G>C	13.37:g.114758033C>G	ENSP00000335029:p.Asp725His					RASA3_ENST00000389544.4_Missense_Mutation_p.D693H	p.D725H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		22	2294	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	725					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.2173G>C	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450054	0.63290	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.92048	-2.86;-2.96	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95588	0.8652	9	.	.	.	.	18.4236	0.90600	0.0:1.0:0.0:0.0	.	725	Q14644	RASA3_HUMAN	H	725;693	ENSP00000335029:D725H;ENSP00000374195:D693H	.	D	-	1	0	RASA3	113776135	1.000000	0.71417	0.093000	0.20910	0.377000	0.30045	6.879000	0.75572	2.353000	0.79882	0.655000	0.94253	GAT		0.483	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		17	29	0	0	0	1	0	17	29				
APLF	200558	broad.mit.edu	37	2	68772422	68772422	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:68772422C>G	ENST00000303795.4	+	8	1435	c.1264C>G	c.(1264-1266)Ccc>Gcc	p.P422A	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	422					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GCCTGAATGTCCCTATGGACC	0.423																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(1264-1266)Ccc>Gcc		aprataxin and PNKP like factor							159.0	150.0	153.0					2																	68772422		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68772422C>G	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1264C>G	2.37:g.68772422C>G	ENSP00000307004:p.Pro422Ala					APLF_ENST00000471727.1_3'UTR	p.P422A	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			8	1435	+			422					A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.1264C>G	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.356044	0.82243	.	.	ENSG00000169621	ENST00000303795	T	0.30714	1.52	5.41	5.41	0.78517	Zinc finger, C2H2, APLF-like (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.79011	2.435	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.62964	-0.6742	10	0.72032	D	0.01	.	17.9645	0.89096	0.0:1.0:0.0:0.0	.	422	Q8IW19	APLF_HUMAN	A	422	ENSP00000307004:P422A	ENSP00000307004:P422A	P	+	1	0	APLF	68625926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.334000	0.65923	2.533000	0.85409	0.555000	0.69702	CCC		0.423	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		38	95	0	0	0	1	0	38	95				
TKTL2	84076	broad.mit.edu	37	4	164393621	164393621	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:164393621C>G	ENST00000280605.3	-	1	1426	c.1266G>C	c.(1264-1266)ggG>ggC	p.G422G		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	422						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGTGGATACCCCACAGTGGG	0.478																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1264-1266)ggG>ggC		transketolase-like 2							47.0	49.0	48.0					4																	164393621		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393621C>G	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1266G>C	4.37:g.164393621C>G							p.G422G	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	1426	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	422					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.1266G>C	CCDS3805.1																																																																																				0.478	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		36	21	0	0	0	1	0	36	21				
KMT2D	8085	broad.mit.edu	37	12	49420628	49420628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:49420628C>T	ENST00000301067.7	-	48	15120	c.15121G>A	c.(15121-15123)Ggg>Agg	p.G5041R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5041					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCAGTGGCCCCGTCACCCTCC	0.607																																						ENST00000301067.7																			0											c.(15121-15123)Ggg>Agg		lysine (K)-specific methyltransferase 2D							63.0	69.0	67.0					12																	49420628		2143	4228	6371	SO:0001583	missense	8085							g.chr12:49420628C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15121G>A	12.37:g.49420628C>T	ENSP00000301067:p.Gly5041Arg						p.G5041R	NM_003482.3	NP_003473.3					48	15120	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15121G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662709	0.47572	.	.	ENSG00000167548	ENST00000301067	T	0.81163	-1.46	4.86	4.86	0.63082	.	0.000000	0.39210	N	0.001425	D	0.90321	0.6972	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91862	0.5500	10	0.87932	D	0	.	17.1536	0.86784	0.0:1.0:0.0:0.0	.	5041	O14686	MLL2_HUMAN	R	5041	ENSP00000301067:G5041R	ENSP00000301067:G5041R	G	-	1	0	MLL2	47706895	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.818000	0.86416	2.425000	0.82216	0.655000	0.94253	GGG		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			31	89	0	0	0	1	0	31	89				
DNAH5	1767	broad.mit.edu	37	5	13876803	13876803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:13876803G>T	ENST00000265104.4	-	22	3490	c.3386C>A	c.(3385-3387)tCc>tAc	p.S1129Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1129	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTTGGTGGAGTTGATAAT	0.383									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3385-3387)tCc>tAc		dynein, axonemal, heavy chain 5							124.0	126.0	125.0					5																	13876803		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13876803G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3386C>A	5.37:g.13876803G>T	ENSP00000265104:p.Ser1129Tyr					CTB-51A17.1_ENST00000503244.1_RNA	p.S1129Y	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			22	3490	-	Lung NSC(4;0.00476)		1129			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3386C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288864	0.80914	.	.	ENSG00000039139	ENST00000265104	T	0.25085	1.82	5.6	5.6	0.85130	.	0.056146	0.64402	D	0.000001	T	0.52108	0.1714	M	0.88570	2.965	0.80722	D	1	P	0.40834	0.73	P	0.49528	0.614	T	0.58188	-0.7680	10	0.72032	D	0.01	.	19.9855	0.97347	0.0:0.0:1.0:0.0	.	1129	Q8TE73	DYH5_HUMAN	Y	1129	ENSP00000265104:S1129Y	ENSP00000265104:S1129Y	S	-	2	0	DNAH5	13929803	1.000000	0.71417	0.997000	0.53966	0.821000	0.46438	9.094000	0.94168	2.806000	0.96561	0.655000	0.94253	TCC		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		38	66	1	0	1.57019e-19	1	1.78677e-19	38	66				
SIGLEC16	400709	broad.mit.edu	37	19	50475259	50475259	+	RNA	SNP	G	G	C	rs12463036	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:50475259G>C	ENST00000602139.1	+	0	1205							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						TGGGGTCCTGGAGCTGCCTCG	0.672													G|||	976	0.194888	0.1717	0.1571	5008	,	,		14776	0.3304		0.1789	False		,,,				2504	0.1299					ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50475259G>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50475259G>C														0	1205	+									RNA	SNP	ENST00000602139.1	37			482	0.2206959706959707	97	0.19715447154471544	65	0.17955801104972377	184	0.32167832167832167	136	0.17941952506596306	G	13.09	2.132987	0.37630	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-0.398	0.12418	.	0.405610	0.21602	N	0.071927	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24048	-1.0171	5	0.46703	T	0.11	.	4.0219	0.09670	0.0:0.2653:0.464:0.2708	rs12463036	.	.	.	Q	422;394	.	ENSP00000396157:E422Q	E	+	1	0	SIGLEC16	55167071	0.240000	0.23847	0.127000	0.21898	0.104000	0.19210	0.323000	0.19593	-0.015000	0.14150	0.407000	0.27541	GAG		0.672	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		2	5	0	0	0	1	0	2	5				
IGHMBP2	3508	broad.mit.edu	37	11	68696742	68696742	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:68696742C>T	ENST00000255078.3	+	8	1263	c.1152C>T	c.(1150-1152)agC>agT	p.S384S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	384	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCGAGGCGAGCTGCTGGATCC	0.622																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1150-1152)agC>agT		immunoglobulin mu binding protein 2							103.0	93.0	97.0					11																	68696742		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68696742C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1152C>T	11.37:g.68696742C>T							p.S384S	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		8	1263	+			384			Leu-rich.		A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.1152C>T	CCDS8187.1																																																																																				0.622	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		41	100	0	0	0	1	0	41	100				
TMEM133	83935	broad.mit.edu	37	11	100863058	100863058	+	Missense_Mutation	SNP	G	G	T	rs375608903		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:100863058G>T	ENST00000303130.2	+	1	248	c.19G>T	c.(19-21)Gta>Tta	p.V7L		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	7						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		ACATCACTGCGTAGGACCCGG	0.428																																						ENST00000303130.2																			0				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5						c.(19-21)Gta>Tta		transmembrane protein 133							67.0	62.0	64.0					11																	100863058		2203	4299	6502	SO:0001583	missense	83935					integral to membrane		g.chr11:100863058G>T	AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.19G>T	11.37:g.100863058G>T	ENSP00000303999:p.Val7Leu						p.V7L	NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0675)	1	248	+		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)	7						Missense_Mutation	SNP	ENST00000303130.2	37	c.19G>T	CCDS8309.1	.	.	.	.	.	.	.	.	.	.	g	3.135	-0.177622	0.06380	.	.	ENSG00000170647	ENST00000303130	.	.	.	2.99	-4.82	0.03171	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	B	0.28291	0.206	B	0.32864	0.154	T	0.35475	-0.9787	8	0.87932	D	0	.	10.486	0.44722	0.681:0.0:0.319:0.0	.	7	Q9H2Q1	TM133_HUMAN	L	7	.	ENSP00000303999:V7L	V	+	1	0	TMEM133	100368268	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.364000	0.07583	-1.340000	0.02227	-2.852000	0.00102	GTA		0.428	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		33	53	1	0	9.65021e-13	1	1.06865e-12	33	53				
PHACTR3	116154	broad.mit.edu	37	20	58349395	58349395	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:58349395G>C	ENST00000371015.1	+	7	1491	c.1024G>C	c.(1024-1026)Gct>Cct	p.A342P	PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	342						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAGGGAGGAGGCTTGGAGCTT	0.512																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(1024-1026)Gct>Cct		phosphatase and actin regulator 3							112.0	109.0	110.0					20																	58349395		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58349395G>C	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1024G>C	20.37:g.58349395G>C	ENSP00000360054:p.Ala342Pro					PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P	p.A342P	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		7	1491	+	all_lung(29;0.00344)		342					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.1024G>C	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412138	0.25465	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.33216	1.84;1.85;1.42;1.85;1.85;1.85;1.42	5.06	4.04	0.47022	.	0.633975	0.17272	N	0.180350	T	0.23451	0.0567	L	0.36672	1.1	0.27162	N	0.961131	P;B;B	0.47604	0.898;0.008;0.015	P;B;B	0.45071	0.468;0.004;0.011	T	0.05582	-1.0876	10	0.21540	T	0.41	-14.0234	5.8878	0.18892	0.094:0.0:0.6195:0.2865	.	231;342;339	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	P	339;342;231;301;301;301;231	ENSP00000353002:A339P;ENSP00000360054:A342P;ENSP00000379001:A231P;ENSP00000442483:A301P;ENSP00000347866:A301P;ENSP00000378998:A301P;ENSP00000354555:A231P	ENSP00000347866:A301P	A	+	1	0	PHACTR3	57782790	0.806000	0.28996	0.999000	0.59377	0.289000	0.27227	1.473000	0.35387	2.335000	0.79485	0.655000	0.94253	GCT		0.512	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		37	70	0	0	0	1	0	37	70				
MAP3K1	4214	broad.mit.edu	37	5	56167806	56167806	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:56167806A>T	ENST00000399503.3	+	7	1371	c.1371A>T	c.(1369-1371)acA>acT	p.T457T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	457					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAAGTCTTACAGTGTGTGAAG	0.428																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1369-1371)acA>acT		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							125.0	128.0	127.0					5																	56167806		1938	4147	6085	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56167806A>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1371A>T	5.37:g.56167806A>T							p.T457T	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	7	1371	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	457						Silent	SNP	ENST00000399503.3	37	c.1371A>T	CCDS43318.1																																																																																				0.428	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		34	29	0	0	0	1	0	34	29				
TCFL5	10732	broad.mit.edu	37	20	61488812	61488812	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:61488812C>T	ENST00000335351.3	-	4	1265	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	TCFL5_ENST00000217162.5_Silent_p.Q343Q	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	391					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGGGCCCACTCTGGGCCTGCT	0.572																																						ENST00000335351.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(1171-1173)caG>caA		transcription factor-like 5 (basic helix-loop-helix)							151.0	139.0	143.0					20																	61488812		2203	4300	6503	SO:0001819	synonymous_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488812C>T	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1173G>A	20.37:g.61488812C>T						TCFL5_ENST00000217162.5_Silent_p.Q343Q	p.Q391Q	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			4	1265	-	Breast(26;5.68e-08)		391					O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	37	c.1173G>A	CCDS13506.1																																																																																				0.572	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		137	40	0	0	0	1	0	137	40				
BCORL1	63035	broad.mit.edu	37	X	129146962	129146962	+	Missense_Mutation	SNP	C	C	T	rs141901231	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:129146962C>T	ENST00000218147.7	+	4	411	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	BCORL1_ENST00000303743.5_Missense_Mutation_p.R72W|BCORL1_ENST00000540052.1_Missense_Mutation_p.R72W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R72W			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGA	0.567																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(214-216)Cgg>Tgg		BCL6 corepressor-like 1		C	TRP/ARG	1,3822		0,1,0,1629,563	65.0	66.0	66.0		214	5.3	1.0	X	dbSNP_134	66	5,6698		0,2,3,2425,1846	yes	missense	BCORL1	NM_021946.4	101	0,3,3,4054,2409	TT,TC,T,CC,C		0.0746,0.0262,0.057	probably-damaging	72/1712	129146962	6,10520	2193	4276	6469	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129146962C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.214C>T	X.37:g.129146962C>T	ENSP00000218147:p.Arg72Trp					BCORL1_ENST00000303743.5_Missense_Mutation_p.R72W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R72W|BCORL1_ENST00000218147.7_Missense_Mutation_p.R72W|BCORL1_ENST00000488135.1_3'UTR	p.R72W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	258	+			72					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.214C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206510	0.58343	2.62E-4	7.46E-4	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.48522	0.82;1.18;0.81;0.82	5.28	5.28	0.74379	.	0.000000	0.32416	N	0.006137	T	0.47284	0.1437	N	0.14661	0.345	0.38786	D	0.954881	D	0.76494	0.999	P	0.54590	0.756	T	0.58267	-0.7666	10	0.66056	D	0.02	-15.5075	18.0728	0.89415	0.0:1.0:0.0:0.0	.	72	Q5H9F3	BCORL_HUMAN	W	72	ENSP00000218147:R72W;ENSP00000307541:R72W;ENSP00000352253:R72W;ENSP00000437775:R72W	ENSP00000218147:R72W	R	+	1	2	BCORL1	128974643	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.080000	0.64437	2.203000	0.70933	0.529000	0.55759	CGG		0.567	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		6	99	0	0	0	1	0	6	99				
MKRN3	7681	broad.mit.edu	37	15	23811475	23811475	+	Silent	SNP	C	C	T	rs200863828		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:23811475C>T	ENST00000314520.3	+	1	1022	c.546C>T	c.(544-546)gcC>gcT	p.A182A	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	182					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTTTGAAGCCGAGAGAGACA	0.617																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(544-546)gcC>gcT		makorin ring finger protein 3							30.0	34.0	33.0					15																	23811475		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811475C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.546C>T	15.37:g.23811475C>T						MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.A182A	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1022	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	182						Silent	SNP	ENST00000314520.3	37	c.546C>T	CCDS10013.1																																																																																				0.617	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		23	30	0	0	0	1	0	23	30				
ALDH1L1	10840	broad.mit.edu	37	3	125856801	125856801	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:125856801A>T	ENST00000393434.2	-	10	1428	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	360	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCTCCACCAGCCTGGAGGA	0.567																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1078-1080)cTg>cAg		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						77.0	70.0	72.0					3																	125856801		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125856801A>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1079T>A	3.37:g.125856801A>T	ENSP00000377083:p.Leu360Gln					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q	p.L360Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	10	1428	-			360			Acyl carrier.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1079T>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907387	0.72868	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.4	4.4	0.53042	Acyl carrier protein-like (3);Phosphopantetheine-binding (1);	0.083564	0.49305	D	0.000155	T	0.77363	0.4119	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	T	0.81514	-0.0898	10	0.87932	D	0	.	11.9047	0.52703	1.0:0.0:0.0:0.0	.	259;412;360	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	Q	370;360;259;360;360	ENSP00000273450:L370Q;ENSP00000420293:L360Q;ENSP00000395881:L259Q;ENSP00000377083:L360Q;ENSP00000377081:L360Q	ENSP00000273450:L370Q	L	-	2	0	ALDH1L1	127339491	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	8.228000	0.89789	1.970000	0.57323	0.528000	0.53228	CTG		0.567	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		34	24	0	0	0	1	0	34	24				
SUGT1	10910	broad.mit.edu	37	13	53233376	53233376	+	Missense_Mutation	SNP	A	A	G	rs12875900		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:53233376A>G	ENST00000343788.6	+	5	402	c.320A>G	c.(319-321)aAa>aGa	p.K107R	SUGT1_ENST00000310528.8_Missense_Mutation_p.K107R|SUGT1_ENST00000535397.1_Missense_Mutation_p.K51R|SUGT1_ENST00000483074.1_3'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	107					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GAAGGACAAAAATTAGATAGT	0.249																																						ENST00000535397.1																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(151-153)aAa>aGa		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							15.0	17.0	17.0					13																	53233376		2136	4183	6319	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53233376A>G	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.320A>G	13.37:g.53233376A>G	ENSP00000367208:p.Lys107Arg					SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.K107R|SUGT1_ENST00000310528.7_Missense_Mutation_p.K107R	p.K51R			Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	6	525	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	107					A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.152A>G	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	A	8.658	0.899935	0.17686	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T;T	0.75260	1.45;-0.92;1.45	3.99	3.99	0.46301	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.221627	0.46758	D	0.000263	T	0.69405	0.3107	M	0.72894	2.215	0.32657	N	0.518629	B;B;B	0.21520	0.016;0.057;0.028	B;B;B	0.22152	0.032;0.038;0.032	T	0.71083	-0.4695	10	0.34782	T	0.22	-4.9213	7.901	0.29734	0.8157:0.0:0.0:0.1843	.	51;107;107	F5H5A9;Q9Y2Z0;Q9Y2Z0-2	.;SUGT1_HUMAN;.	R	107;51;107	ENSP00000367208:K107R;ENSP00000443521:K51R;ENSP00000308067:K107R	ENSP00000308067:K107R	K	+	2	0	SUGT1	52131377	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	1.332000	0.33805	1.580000	0.49851	0.379000	0.24179	AAA		0.249	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			17	23	0	0	0	1	0	17	23				
LOC440040	440040	broad.mit.edu	37	11	49598207	49598207	+	RNA	SNP	T	T	C	rs71479502|rs3750925	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:49598207T>C	ENST00000527477.1	+	0	811																											TCCTCTTCCTTCTGCTCCAAG	0.502													T|||	2233	0.445887	0.1853	0.5922	5008	,	,		18293	0.5526		0.5517	False		,,,				2504	0.4755					ENST00000527477.1																			0																																																			440040							g.chr11:49598207T>C																													11.37:g.49598207T>C														0	811	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.502	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			3	30	0	0	0	1	0	3	30				
MCAM	4162	broad.mit.edu	37	11	119181165	119181165	+	Missense_Mutation	SNP	G	G	A	rs528808258		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:119181165G>A	ENST00000264036.4	-	15	1819	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	602					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTTACGAGACGGGGGTAGCGT	0.587																																						ENST00000264036.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1804-1806)cCg>cTg		melanoma cell adhesion molecule							103.0	106.0	105.0					11																	119181165		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119181165G>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1805C>T	11.37:g.119181165G>A	ENSP00000264036:p.Pro602Leu					MCAM_ENST00000392814.1_3'UTR	p.P602L	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	15	1819	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	602					O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1805C>T	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250904	0.39797	.	.	ENSG00000076706	ENST00000264036	T	0.54279	0.58	5.28	4.16	0.48862	.	.	.	.	.	T	0.34774	0.0909	N	0.24115	0.695	0.80722	D	1	B	0.19817	0.039	B	0.08055	0.003	T	0.25572	-1.0128	9	0.49607	T	0.09	-29.061	6.8537	0.24028	0.0992:0.0:0.6777:0.2231	.	602	P43121	MUC18_HUMAN	L	602	ENSP00000264036:P602L	ENSP00000264036:P602L	P	-	2	0	MCAM	118686375	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.883000	0.48554	2.461000	0.83175	0.563000	0.77884	CCG		0.587	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			58	99	0	0	0	1	0	58	99				
TP53	7157	broad.mit.edu	37	17	7578553	7578553	+	Splice_Site	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:7578553T>C	ENST00000269305.4	-	5	566	c.377A>G	c.(376-378)tAc>tGc	p.Y126C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site_p.Y126C|TP53_ENST00000413465.2_Splice_Site_p.Y126C|TP53_ENST00000445888.2_Splice_Site_p.Y126C|TP53_ENST00000420246.2_Splice_Site_p.Y126C|TP53_ENST00000455263.2_Splice_Site_p.Y126C	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAGGGGAGTACTGTAGGAA	0.557		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"""		30	Deletion - In frame(9)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(6)|Unknown(1)	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(1)	upper_aerodigestive_tract(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|lung(3)|ovary(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(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.e5-1	Other conserved DNA damage response genes	tumor protein p53							43.0	43.0	43.0					17																	7578553		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578553T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1A>G	17.37:g.7578553T>C		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_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000445888.2_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice	p.Y126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	509	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320083	0.81469	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.989;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	0.0:0.0:0.0:1.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126C;ENSP00000352610:Y126C;ENSP00000269305:Y126C;ENSP00000398846:Y126C;ENSP00000391127:Y126C;ENSP00000391478:Y126C;ENSP00000423862:Y33C;ENSP00000424104:Y126C;ENSP00000426252:Y126C	ENSP00000269305:Y126C	Y	-	2	0	TP53	7519278	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	7.958000	0.87877	2.206000	0.71126	0.533000	0.62120	TAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	22	12	0	0	0	1	0	22	12				
TRBV6-9	28598	broad.mit.edu	37	7	142104314	142104314	+	RNA	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr7:142104314A>T	ENST00000390379.1	-	0	150									T cell receptor beta variable 6-9																		TACCAGGACAAGTATCCATGG	0.512																																						ENST00000390379.1																			0																				169.0	158.0	161.0					7																	142104314		2011	4179	6190			28598							g.chr7:142104314A>T	X61447		7q34	2012-02-07			ENSG00000211732			"""T cell receptors / TRB locus"""	12234	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV69, TCRBV13S4, TCRBV6S9			OTTHUMG00000158905		7.37:g.142104314A>T														0	150	-									RNA	SNP	ENST00000390379.1	37																																																																																						0.512	TRBV6-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352517.1	NG_001333		84	100	0	0	0	1	0	84	100				
WSCD2	9671	broad.mit.edu	37	12	108634152	108634152	+	Silent	SNP	C	C	T	rs368092771		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:108634152C>T	ENST00000332082.4	+	9	1994	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	WSCD2_ENST00000261400.3_Silent_p.S392S|WSCD2_ENST00000549903.1_Silent_p.S392S|WSCD2_ENST00000547525.1_Silent_p.S392S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	392						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTGGCGCAGCGGACGGACCA	0.607																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1174-1176)agC>agT		WSC domain containing 2		C		0,4118		0,0,2059	122.0	130.0	127.0		1176	1.0	1.0	12		127	2,8416		0,2,4207	no	coding-synonymous	WSCD2	NM_014653.2		0,2,6266	TT,TC,CC		0.0238,0.0,0.016		392/566	108634152	2,12534	2059	4209	6268	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108634152C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1176C>T	12.37:g.108634152C>T						WSCD2_ENST00000547525.1_Silent_p.S392S|WSCD2_ENST00000549903.1_Silent_p.S392S|WSCD2_ENST00000261400.3_Silent_p.S392S	p.S392S			Q2TBF2	WSCD2_HUMAN			9	1994	+			392					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.1176C>T	CCDS41828.1																																																																																				0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		148	54	0	0	0	1	0	148	54				
NXF3	56000	broad.mit.edu	37	X	102337236	102337236	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:102337236A>C	ENST00000395065.3	-	9	938	c.837T>G	c.(835-837)tgT>tgG	p.C279W	NXF3_ENST00000425463.2_Missense_Mutation_p.C190W|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	279					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTCTGTCCGCACACTTCTCTC	0.532																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(835-837)tgT>tgG		nuclear RNA export factor 3							438.0	294.0	343.0					X																	102337236		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337236A>C	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.837T>G	X.37:g.102337236A>C	ENSP00000378504:p.Cys279Trp					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.C190W	p.C279W	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			9	938	-			279					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.837T>G	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.010|0.010	-1.768869|-1.768869	0.00645|0.00645	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	T|T;T	0.42131|0.39997	0.98|1.07;1.05	3.4|3.4	-6.22|-6.22	0.02058|0.02058	.|.	0.657428|0.657428	0.17954|0.17954	N|N	0.156407|0.156407	T|T	0.14270|0.14270	0.0345|0.0345	N|N	0.04148|0.04148	-0.265|-0.265	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20780	.|0.048;0.02;0.0	.|B;B;B	.|0.20384	.|0.029;0.004;0.001	T|T	0.08166|0.08166	-1.0735|-1.0735	8|10	0.26408|0.32370	T|T	0.33|0.25	0.2628|0.2628	5.6711|5.6711	0.17723|0.17723	0.256:0.3128:0.4312:0.0|0.256:0.3128:0.4312:0.0	.|.	.|279;175;279	.|B4DYI1;E9PEY7;Q9H4D5	.|.;.;NXF3_HUMAN	G|W	156|279;190	ENSP00000404017:C156G|ENSP00000378504:C279W;ENSP00000404347:C190W	ENSP00000404017:C156G|ENSP00000378504:C279W	C|C	-|-	1|3	0|2	NXF3|NXF3	102223892|102223892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.199000|-0.199000	0.09491|0.09491	-1.605000|-1.605000	0.01593|0.01593	0.486000|0.486000	0.48141|0.48141	TGC|TGT		0.532	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		8	109	0	0	0	1	0	8	109				
PEX5L	51555	broad.mit.edu	37	3	179592166	179592166	+	Missense_Mutation	SNP	G	G	C	rs139208096		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:179592166G>C	ENST00000467460.1	-	7	1005	c.675C>G	c.(673-675)agC>agG	p.S225R	PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	225					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTTGAGGGCGCTTTTTCCAC	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(673-675)agC>agG		peroxisomal biogenesis factor 5-like							121.0	117.0	118.0					3																	179592166		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179592166G>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.675C>G	3.37:g.179592166G>C	ENSP00000419975:p.Ser225Arg					PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R|PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R	p.S225R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		7	1005	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		225					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.675C>G	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701581	0.30142	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640	D;D;D;D;D;D;D;D;D	0.88277	-2.35;-2.36;-2.33;-2.29;-2.32;-2.34;-2.34;-2.29;-2.34	5.55	-5.44	0.02624	.	0.284411	0.38272	N	0.001759	T	0.77611	0.4156	L	0.29908	0.895	0.34105	D	0.662318	B;B;B;P;P;P	0.42620	0.307;0.307;0.451;0.785;0.785;0.678	B;B;B;B;B;B	0.37508	0.091;0.091;0.097;0.252;0.252;0.128	T	0.75545	-0.3280	10	0.66056	D	0.02	-10.18	11.6215	0.51121	0.2745:0.1055:0.6199:0.0	.	166;201;117;223;190;225	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	R	225;223;190;223;117;33;182;113;166;117;201;33;33	ENSP00000419975:S225R;ENSP00000263962:S223R;ENSP00000418440:S190R;ENSP00000376420:S117R;ENSP00000418665:S33R;ENSP00000420555:S182R;ENSP00000418054:S166R;ENSP00000417270:S117R;ENSP00000419348:S201R	ENSP00000263962:S223R	S	-	3	2	PEX5L	181074860	0.297000	0.24408	0.962000	0.40283	0.965000	0.64279	-0.573000	0.05874	-0.600000	0.05790	-0.312000	0.09012	AGC		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		43	165	0	0	0	1	0	43	165				
MAST1	22983	broad.mit.edu	37	19	12975624	12975624	+	Splice_Site	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:12975624C>T	ENST00000251472.4	+	13	1407	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCCTGCAGGCGGCGACTGTG	0.537																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.e13-1		microtubule associated serine/threonine kinase 1							66.0	66.0	66.0					19																	12975624		2203	4300	6503	SO:0001630	splice_region_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975624C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1367-1C>T	19.37:g.12975624C>T							p.G456_splice	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			13	1407	+			456			Protein kinase.			Splice_Site	SNP	ENST00000251472.4	37	c.1366_splice	CCDS32921.1																																																																																				0.537	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	Silent	21	45	0	0	0	1	0	21	45				
CDR2L	30850	broad.mit.edu	37	17	72998278	72998278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:72998278C>T	ENST00000337231.5	+	4	873	c.461C>T	c.(460-462)aCc>aTc	p.T154I		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	154												all_lung(278;0.226)					CGCAGGCGTACCATCCACACC	0.647																																						ENST00000337231.5																			0											c.(460-462)aCc>aTc		cerebellar degeneration-related protein 2-like							67.0	47.0	54.0					17																	72998278		2203	4299	6502	SO:0001583	missense	30850							g.chr17:72998278C>T		CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"""paraneoplastic antigen"""						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.461C>T	17.37:g.72998278C>T	ENSP00000336587:p.Thr154Ile						p.T154I	NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN			4	873	+	all_lung(278;0.226)		154					B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	37	c.461C>T	CCDS11710.2	.	.	.	.	.	.	.	.	.	.	C	32	5.183390	0.94885	.	.	ENSG00000109089	ENST00000337231	T	0.47869	0.83	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.60439	-0.7263	10	0.23891	T	0.37	-28.6558	19.155	0.93506	0.0:1.0:0.0:0.0	.	154	Q86X02	CDR2L_HUMAN	I	154	ENSP00000336587:T154I	ENSP00000336587:T154I	T	+	2	0	CDR2L	70509873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.516000	0.81772	2.609000	0.88269	0.563000	0.77884	ACC		0.647	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603		4	13	0	0	0	1	0	4	13				
FAM135B	51059	broad.mit.edu	37	8	139277978	139277978	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:139277978A>G	ENST00000395297.1	-	4	435	c.265T>C	c.(265-267)Ttc>Ctc	p.F89L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	89										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAACTCGGAAGACCACAGCA	0.488										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(265-267)Ttc>Ctc		family with sequence similarity 135, member B							103.0	102.0	102.0					8																	139277978		1934	4155	6089	SO:0001583	missense	51059							g.chr8:139277978A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.265T>C	8.37:g.139277978A>G	ENSP00000378710:p.Phe89Leu	HNSCC(54;0.14)					p.F89L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	435	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		89					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.265T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517075	0.85495	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.38560	1.13	5.92	5.92	0.95590	.	0.000000	0.64402	U	0.000001	T	0.67249	0.2873	M	0.84948	2.725	0.46437	D	0.999044	D	0.76494	0.999	D	0.80764	0.994	T	0.72839	-0.4171	10	0.87932	D	0	-18.9373	12.7549	0.57328	1.0:0.0:0.0:0.0	.	89	Q49AJ0	F135B_HUMAN	L	89	ENSP00000378710:F89L	ENSP00000160713:F89L	F	-	1	0	FAM135B	139347160	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	7.428000	0.80296	2.266000	0.75297	0.533000	0.62120	TTC		0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		19	47	0	0	0	1	0	19	47				
AGBL5	60509	broad.mit.edu	37	2	27276859	27276859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:27276859C>A	ENST00000360131.4	+	4	642	c.483C>A	c.(481-483)taC>taA	p.Y161*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	161					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCTCCTACAGTGACTGCC	0.552																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(481-483)taC>taA		ATP/GTP binding protein-like 5							185.0	178.0	180.0					2																	27276859		2203	4300	6503	SO:0001587	stop_gained	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276859C>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.483C>A	2.37:g.27276859C>A	ENSP00000353249:p.Tyr161*					AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA	p.Y161*	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			4	642	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		161					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Nonsense_Mutation	SNP	ENST00000360131.4	37	c.483C>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	30	5.050303	0.93740	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	.	.	.	5.78	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.9875	13.9114	0.63869	0.0:0.9256:0.0:0.0744	.	.	.	.	X	161	.	.	Y	+	3	2	AGBL5	27130363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.639000	0.54339	1.454000	0.47793	0.561000	0.74099	TAC		0.552	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		87	138	1	0	1.02218e-41	1	1.19617e-41	87	138				
SAP130	79595	broad.mit.edu	37	2	128775458	128775458	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:128775458G>A	ENST00000259235.3	-	3	351	c.222C>T	c.(220-222)gtC>gtT	p.V74V	SAP130_ENST00000357702.5_Silent_p.V74V|SAP130_ENST00000259234.6_Silent_p.V48V	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	74					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCCTGGCACTGACTTCAGAAT	0.498																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(220-222)gtC>gtT		Sin3A-associated protein, 130kDa							85.0	74.0	78.0					2																	128775458		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128775458G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.222C>T	2.37:g.128775458G>A						SAP130_ENST00000259234.6_Silent_p.V48V|SAP130_ENST00000259235.3_Silent_p.V74V	p.V74V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	3	353	-	Colorectal(110;0.1)		74					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.222C>T	CCDS2153.1																																																																																				0.498	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		31	52	0	0	0	1	0	31	52				
LIPC	3990	broad.mit.edu	37	15	58834054	58834054	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:58834054T>C	ENST00000356113.6	+	5	959	c.344T>C	c.(343-345)gTg>gCg	p.V115A	LIPC_ENST00000299022.5_Missense_Mutation_p.V115A|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000414170.3_Missense_Mutation_p.V115A			P11150	LIPC_HUMAN	lipase, hepatic	115					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCCCAGCCAGTGAACGTGGGG	0.652																																						ENST00000414170.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(343-345)gTg>gCg		lipase, hepatic							37.0	39.0	38.0					15																	58834054		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58834054T>C		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.344T>C	15.37:g.58834054T>C	ENSP00000348425:p.Val115Ala					LIPC_ENST00000433326.2_Intron|LIPC_ENST00000299022.5_Missense_Mutation_p.V115A|LIPC_ENST00000356113.6_Missense_Mutation_p.V115A	p.V115A			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	4	631	+		Colorectal(260;0.215)	115					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.344T>C	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	T	5.495	0.276321	0.10403	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022	D;D;D	0.90844	-2.74;-2.74;-2.74	4.6	4.6	0.57074	Lipase, N-terminal (1);	0.321128	0.30109	N	0.010392	D	0.83418	0.5250	L	0.45051	1.395	0.45056	D	0.998076	B	0.19935	0.04	B	0.22386	0.039	T	0.73726	-0.3892	10	0.02654	T	1	.	9.527	0.39171	0.0:0.0835:0.0:0.9165	.	115	P11150	LIPC_HUMAN	A	115	ENSP00000348425:V115A;ENSP00000395569:V115A;ENSP00000299022:V115A	ENSP00000299022:V115A	V	+	2	0	LIPC	56621346	0.997000	0.39634	0.909000	0.35828	0.876000	0.50452	4.078000	0.57606	1.923000	0.55706	0.379000	0.24179	GTG		0.652	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			14	11	0	0	0	1	0	14	11				
MYH4	4622	broad.mit.edu	37	17	10369589	10369589	+	Splice_Site	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:10369589C>A	ENST00000255381.2	-	4	459		c.e4+1		RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGGTGCTCACGTAGATCATC	0.433																																						ENST00000255381.2																			1	Unknown(1)	p.?(1)	kidney(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.e4+1		myosin, heavy chain 4, skeletal muscle							246.0	200.0	215.0					17																	10369589		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369589C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.348+1G>T	17.37:g.10369589C>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA		NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			4	459	-									Splice_Site	SNP	ENST00000255381.2	37		CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552854	0.65425	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4991	0.90875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2;MYH4	10310314	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.547000	0.82146	2.666000	0.90696	0.650000	0.86243	.		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Intron	55	99	1	0	4.88482e-21	1	5.59719e-21	55	99				
PAFAH2	5051	broad.mit.edu	37	1	26301058	26301058	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:26301058T>G	ENST00000374282.3	-	9	1021	c.842A>C	c.(841-843)aAt>aCt	p.N281T	PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	281					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTCAGTATTGATAAAGAA	0.468																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(841-843)aAt>aCt		platelet-activating factor acetylhydrolase 2, 40kDa							107.0	99.0	102.0					1																	26301058		2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26301058T>G	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.842A>C	1.37:g.26301058T>G	ENSP00000363400:p.Asn281Thr					PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T	p.N281T	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	9	1021	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	281					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.842A>C	CCDS270.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465439	0.84425	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.40756	1.02;1.02	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	T	0.59891	0.2227	L	0.59436	1.845	0.49582	D	0.9998	D	0.76494	0.999	D	0.85130	0.997	T	0.56056	-0.8042	10	0.30078	T	0.28	-16.3354	15.0208	0.71630	0.0:0.0:0.0:1.0	.	281	Q99487	PAFA2_HUMAN	T	281	ENSP00000363400:N281T;ENSP00000363402:N281T	ENSP00000363400:N281T	N	-	2	0	PAFAH2	26173645	1.000000	0.71417	0.919000	0.36401	0.918000	0.54935	6.245000	0.72398	2.192000	0.70111	0.529000	0.55759	AAT		0.468	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		24	28	0	0	0	1	0	24	28				
FBXO31	79791	broad.mit.edu	37	16	87376494	87376494	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:87376494C>A	ENST00000311635.7	-	5	733	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	241					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCTGCCTCCCGCCGGACATC	0.557																																						ENST00000311635.7																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(721-723)Ggg>Tgg		F-box protein 31							82.0	63.0	70.0					16																	87376494		2198	4299	6497	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87376494C>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.721G>T	16.37:g.87376494C>A	ENSP00000310841:p.Gly241Trp						p.G241W	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	5	733	-			241					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.721G>T	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130243	0.77549	.	.	ENSG00000103264	ENST00000311635	T	0.68765	-0.35	5.1	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76828	-0.2815	10	0.87932	D	0	-15.1586	14.861	0.70382	0.1448:0.8552:0.0:0.0	.	241;133	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	W	241	ENSP00000310841:G241W	ENSP00000310841:G241W	G	-	1	0	FBXO31	85933995	1.000000	0.71417	0.790000	0.31976	0.992000	0.81027	7.617000	0.83032	1.120000	0.41904	0.655000	0.94253	GGG		0.557	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		10	5	1	0	2.17888e-05	1	2.24697e-05	10	5				
SLC7A2	6542	broad.mit.edu	37	8	17407860	17407860	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:17407860T>C	ENST00000494857.1	+	6	967	c.749T>C	c.(748-750)aTg>aCg	p.M250T	SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000470360.1_Missense_Mutation_p.M290T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	250					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGGCTTTATGCCTTATGGC	0.448																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(868-870)aTg>aCg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						215.0	171.0	186.0					8																	17407860		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17407860T>C	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.749T>C	8.37:g.17407860T>C	ENSP00000419140:p.Met250Thr					SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000494857.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T	p.M290T			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	7	986	+			250					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.869T>C	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520629	0.64747	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.62	5.62	0.85841	Amino acid permease domain (1);	0.153604	0.64402	D	0.000001	D	0.91710	0.7379	L	0.49350	1.555	0.58432	D	0.999992	B;P;P	0.48764	0.313;0.563;0.915	B;B;P	0.58266	0.124;0.205;0.836	D	0.92253	0.5810	10	0.62326	D	0.03	.	16.1326	0.81454	0.0:0.0:0.0:1.0	.	290;290;250	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	T	250;250;290;290;290	ENSP00000419140:M250T;ENSP00000430464:M250T;ENSP00000419873:M290T;ENSP00000004531:M290T;ENSP00000381164:M290T	ENSP00000004531:M290T	M	+	2	0	SLC7A2	17452238	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	ATG		0.448	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		31	10	0	0	0	1	0	31	10				
CLEC16A	23274	broad.mit.edu	37	16	11097000	11097000	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:11097000C>T	ENST00000409790.1	+	11	1371	c.1141C>T	c.(1141-1143)Cac>Tac	p.H381Y	CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GATGAACAAGCACAAGGGCAA	0.537																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1141-1143)Cac>Tac		C-type lectin domain family 16, member A							56.0	57.0	56.0					16																	11097000		1889	4127	6016	SO:0001583	missense	23274							g.chr16:11097000C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1141C>T	16.37:g.11097000C>T	ENSP00000387122:p.His381Tyr					CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y	p.H381Y	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			11	1371	+			381						Missense_Mutation	SNP	ENST00000409790.1	37	c.1141C>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495464	0.44352	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.45668	0.89	5.62	5.62	0.85841	.	0.203156	0.53938	D	0.000052	T	0.29028	0.0721	N	0.08118	0	0.80722	D	1	B;P	0.34757	0.393;0.467	B;B	0.34652	0.133;0.187	T	0.24048	-1.0171	10	0.62326	D	0.03	-24.8933	18.6399	0.91392	0.0:1.0:0.0:0.0	.	381;379	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	Y	381;381;379	ENSP00000387122:H381Y	ENSP00000386495:H379Y	H	+	1	0	CLEC16A	11004501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.939000	0.63526	2.662000	0.90505	0.655000	0.94253	CAC		0.537	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		15	35	0	0	0	1	0	15	35				
PCDHGA4	56111	broad.mit.edu	37	5	140735600	140735600	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140735600C>A	ENST00000571252.1	+	1	833	c.833C>A	c.(832-834)aCg>aAg	p.T278K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACGTGACGTATTCTTTC	0.458																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(832-834)aCg>aAg									47.0	49.0	48.0					5																	140735600		1956	4146	6102	SO:0001583	missense	56111							g.chr5:140735600C>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.833C>A	5.37:g.140735600C>A	ENSP00000458570:p.Thr278Lys					PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.T278K	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	833	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.833C>A	CCDS58979.1																																																																																				0.458	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		4	32	1	0	0.014758	1	0.014848	4	32				
CCDC39	339829	broad.mit.edu	37	3	180397180	180397180	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:180397180G>C	ENST00000442201.2	-	0	108				CCDC39-AS1_ENST00000495357.1_RNA|CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTGCAAACGGATAGAGAAGA	0.582																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45								coiled-coil domain containing 39							118.0	114.0	115.0					3																	180397180		1966	4169	6135			339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180397180G>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.-12C>G	3.37:g.180397180G>C						CCDC39_ENST00000273654.4_Intron		NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		0	108	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)							B4E2H1	Translation_Start_Site	SNP	ENST00000442201.2	37		CCDS46964.1																																																																																				0.582	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		45	450	0	0	0	1	0	45	450				
RECQL	5965	broad.mit.edu	37	12	21630754	21630754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:21630754G>A	ENST00000444129.2	-	7	1318	c.850C>T	c.(850-852)Cca>Tca	p.P284S	RECQL_ENST00000421138.2_Missense_Mutation_p.P284S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	284					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATAGATTTGGCCTATTAAAA	0.328								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(850-852)Cca>Tca	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							47.0	47.0	47.0					12																	21630754		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21630754G>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.850C>T	12.37:g.21630754G>A	ENSP00000416739:p.Pro284Ser					RECQL_ENST00000421138.2_Missense_Mutation_p.P284S	p.P284S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			7	1318	-			284					A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.850C>T	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034575	0.35893	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.79033	-1.23;-1.23	4.7	3.82	0.43975	DEAD-like helicase (1);	0.154659	0.64402	N	0.000015	T	0.78336	0.4267	M	0.66297	2.02	0.43734	D	0.996225	D	0.56287	0.975	P	0.46685	0.524	T	0.80341	-0.1423	10	0.51188	T	0.08	-2.0634	13.5427	0.61684	0.0756:0.0:0.9244:0.0	.	284	P46063	RECQ1_HUMAN	S	284	ENSP00000416739:P284S;ENSP00000395449:P284S	ENSP00000395449:P284S	P	-	1	0	RECQL	21522021	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	3.965000	0.56788	1.348000	0.45733	-0.127000	0.14921	CCA		0.328	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		24	73	0	0	0	1	0	24	73				
NAV3	89795	broad.mit.edu	37	12	78225481	78225481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:78225481C>A	ENST00000397909.2	+	1	413	c.240C>A	c.(238-240)agC>agA	p.S80R	NAV3_ENST00000266692.7_Missense_Mutation_p.S80R|NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000228327.6_Missense_Mutation_p.S80R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	80	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S80R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGACAGCAAGGTTAGTT	0.413										HNSCC(70;0.22)																												ENST00000397909.2																			1	Substitution - Missense(1)	p.S80R(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(238-240)agC>agA		neuron navigator 3							61.0	57.0	58.0					12																	78225481		1873	4111	5984	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225481C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.240C>A	12.37:g.78225481C>A	ENSP00000381007:p.Ser80Arg	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.S80R|NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000266692.7_Missense_Mutation_p.S80R	p.S80R			Q8IVL0	NAV3_HUMAN			1	413	+			80			CH.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.240C>A		.	.	.	.	.	.	.	.	.	.	C	16.59	3.164390	0.57476	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.25	3.28	0.37604	Calponin homology domain (4);	15.647800	0.02051	U	0.050060	T	0.58793	0.2147	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.991	T	0.56318	-0.7999	10	0.18276	T	0.48	-1.9813	9.8288	0.40928	0.0:0.8152:0.0:0.1848	.	80;80	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	R	80	ENSP00000446628:S80R;ENSP00000446132:S80R;ENSP00000381007:S80R;ENSP00000228327:S80R;ENSP00000266692:S80R	ENSP00000228327:S80R	S	+	3	2	NAV3	76749612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.034000	0.30204	0.610000	0.30035	0.655000	0.94253	AGC		0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		61	24	1	0	3.36121e-32	1	3.90563e-32	61	24				
CNTNAP4	85445	broad.mit.edu	37	16	76555134	76555134	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:76555134T>C	ENST00000476707.1	+	15	2611	c.2472T>C	c.(2470-2472)ttT>ttC	p.F824F	CNTNAP4_ENST00000307431.8_Silent_p.F820F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.F748F|CNTNAP4_ENST00000377504.4_Silent_p.F772F			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	821	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTCTTTTTTAAGACAACAG	0.408																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2458-2460)ttT>ttC		contactin associated protein-like 4							232.0	220.0	224.0					16																	76555134		1817	4069	5886	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76555134T>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2472T>C	16.37:g.76555134T>C						CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.F824F|CNTNAP4_ENST00000478060.1_Silent_p.F748F|CNTNAP4_ENST00000377504.4_Silent_p.F772F	p.F820F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			17	2845	+			821			Laminin G-like 3.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2460T>C																																																																																					0.408	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		79	249	0	0	0	1	0	79	249				
ANK2	287	broad.mit.edu	37	4	114277023	114277023	+	Missense_Mutation	SNP	G	G	A	rs372545180		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:114277023G>A	ENST00000357077.4	+	38	7302	c.7249G>A	c.(7249-7251)Gat>Aat	p.D2417N	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2417					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCTAGCCGAGATAGCGAAGT	0.498																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7249-7251)Gat>Aat		ankyrin 2, neuronal							60.0	61.0	61.0					4																	114277023		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277023G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7249G>A	4.37:g.114277023G>A	ENSP00000349588:p.Asp2417Asn					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N	p.D2417N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7302	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2384					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7249G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906065	0.72868	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.70399	-0.47;-0.48	6.06	5.22	0.72569	.	0.203180	0.33553	N	0.004783	T	0.73265	0.3565	L	0.49350	1.555	0.80722	D	1	B;D	0.63046	0.006;0.992	B;P	0.54270	0.011;0.747	T	0.72846	-0.4169	9	.	.	.	.	11.4858	0.50352	0.1369:0.0:0.8631:0.0	.	2384;2417	Q01484;Q01484-4	ANK2_HUMAN;.	N	2417;2384	ENSP00000349588:D2417N;ENSP00000264366:D2384N	.	D	+	1	0	ANK2	114496472	1.000000	0.71417	0.022000	0.16811	0.968000	0.65278	5.208000	0.65203	1.574000	0.49760	0.655000	0.94253	GAT		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		26	17	0	0	0	1	0	26	17				
GLIS3	169792	broad.mit.edu	37	9	4117821	4117821	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:4117821T>C	ENST00000324333.10	-	3	1385	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	398					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATCAGCAGTTTATAGCGGGCG	0.567																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1192-1194)Aaa>Gaa		GLIS family zinc finger 3							164.0	155.0	158.0					9																	4117821		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4117821T>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1192A>G	9.37:g.4117821T>C	ENSP00000325494:p.Lys398Glu					GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E	p.K398E	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1385	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	398					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1192A>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517452	0.85495	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	D;T	0.91237	-2.81;2.47	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000040	D	0.91260	0.7245	N	0.17082	0.46	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.997;1.0;1.0;0.998;0.997	D	0.92826	0.6276	10	0.62326	D	0.03	.	15.9595	0.79918	0.0:0.0:0.0:1.0	.	61;66;66;553;398	Q1PHK4;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	E	398;553	ENSP00000325494:K398E;ENSP00000371398:K553E	ENSP00000325494:K398E	K	-	1	0	GLIS3	4107821	1.000000	0.71417	0.914000	0.36105	0.869000	0.49853	8.013000	0.88655	2.178000	0.69098	0.533000	0.62120	AAA		0.567	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		70	31	0	0	0	1	0	70	31				
SCAI	286205	broad.mit.edu	37	9	127715225	127715225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127715225C>T	ENST00000336505.6	-	18	1740	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	561					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.R584Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGATAATTTCGTGTTTCCTG	0.358																																						ENST00000336505.5																			1	Substitution - Missense(1)	p.R584Q(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(1681-1683)cGa>cAa		suppressor of cancer cell invasion							167.0	149.0	155.0					9																	127715225		1865	4104	5969	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127715225C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1682G>A	9.37:g.127715225C>T	ENSP00000336756:p.Arg561Gln					SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q	p.R561Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			18	1740	-			561					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1682G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066828	0.36470	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.41065	1.01;1.01	5.17	5.17	0.71159	.	0.134343	0.47852	D	0.000206	T	0.40119	0.1104	N	0.04203	-0.255	0.43047	D	0.994642	P;D	0.69078	0.934;0.997	P;D	0.69479	0.614;0.964	T	0.37709	-0.9694	10	0.13108	T	0.6	-7.4375	18.0219	0.89257	0.0:1.0:0.0:0.0	.	561;584	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	561;584	ENSP00000336756:R561Q;ENSP00000362650:R584Q	ENSP00000336756:R561Q	R	-	2	0	SCAI	126755046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.206000	0.72154	2.560000	0.86352	0.655000	0.94253	CGA		0.358	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		43	43	0	0	0	1	0	43	43				
IGHG4	3503	broad.mit.edu	37	14	106092259	106092259	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:106092259C>T	ENST00000390543.2	-	0	144							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTGTGCACGCCGCTGGTCAGG	0.652																																						ENST00000390543.2																			0																				45.0	52.0	50.0					14																	106092259		1958	4110	6068			3503							g.chr14:106092259C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106092259C>T														0	144	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.652	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		9	65	0	0	0	1	0	9	65				
FER1L5	90342	broad.mit.edu	37	2	97361486	97361486	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:97361486C>T	ENST00000457909.1	+	0	3405							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAGCTCATGCCGACGGAGGAG	0.642																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							32.0	37.0	35.0					2																	97361486		2040	4175	6215			90342					integral to membrane		g.chr2:97361486C>T	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97361486C>T										A0AVI2	FR1L5_HUMAN			0	3405	+								Q17RH2|Q6ZU24	RNA	SNP	ENST00000457909.1	37			.	.	.	.	.	.	.	.	.	.	C	2.550	-0.304326	0.05495	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	4.67	3.78	0.43462	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.38436	U	0.001698	T	0.79816	0.4511	M	0.89414	3.03	.	.	.	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.69307	0.963;0.868;0.938	D	0.86279	0.1666	8	0.87932	D	0	-9.8863	11.3079	0.49347	0.183:0.817:0.0:0.0	.	45;1328;46	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	L	1328;1342;46	.	ENSP00000442027:P46L	P	+	2	0	FER1L5	96725213	1.000000	0.71417	0.752000	0.31206	0.008000	0.06430	6.646000	0.74348	0.926000	0.37118	-0.518000	0.04402	CCG		0.642	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		7	14	0	0	0	1	0	7	14				
CNKSR2	22866	broad.mit.edu	37	X	21515965	21515965	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chrX:21515965G>A	ENST00000379510.3	+	7	777		c.e7+1		CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000425654.2_Splice_Site	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAGAAAATGTAAGTATTCT	0.308																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.e7+1		connector enhancer of kinase suppressor of Ras 2							108.0	98.0	102.0					X																	21515965		2203	4296	6499	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21515965G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.741+1G>A	X.37:g.21515965G>A						CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site		NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			7	1221	+								B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Splice_Site	SNP	ENST00000379510.3	37		CCDS14198.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.349784	0.82132	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3788	0.90443	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNKSR2	21425886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.341000	0.97041	2.280000	0.76307	0.591000	0.81541	.		0.308	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Intron	15	8	0	0	0	1	0	15	8				
CLDND1	56650	broad.mit.edu	37	3	98240121	98240121	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:98240121T>A	ENST00000503004.1	-	2	1027	c.148A>T	c.(148-150)Atc>Ttc	p.I50F	CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|CLDND1_ENST00000511081.1_Intron			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	50						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATCCCAGATGCTTTTATTC	0.413																																						ENST00000503004.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(148-150)Atc>Ttc		claudin domain containing 1							104.0	98.0	100.0					3																	98240121		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98240121T>A	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.148A>T	3.37:g.98240121T>A	ENSP00000421226:p.Ile50Phe					CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F	p.I50F			Q9NY35	CLDN1_HUMAN			2	1027	-			50					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.148A>T	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.700138	0.30142	.	.	ENSG00000080822	ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000508902;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071;ENST00000513130;ENST00000506575	T;T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.92;1.91;1.92;1.92;1.92;1.92;1.92;1.92;1.49;1.92;1.92;1.92;1.5	5.09	-6.51	0.01878	.	0.655336	0.15900	N	0.239113	T	0.14960	0.0361	N	0.22421	0.69	0.28967	N	0.889475	B;B;B	0.14805	0.011;0.007;0.0	B;B;B	0.24394	0.053;0.024;0.001	T	0.27054	-1.0085	10	0.19590	T	0.45	-0.0158	9.3571	0.38173	0.0:0.149:0.5806:0.2703	.	50;50;50	D6RCR8;Q9NY35;Q9NY35-2	.;CLDN1_HUMAN;.	F	50;50;73;50;3;50;50;50;50;50;28;50;50;50;50;50;50;50;28;50;50;50	ENSP00000340247:I50F;ENSP00000388457:I73F;ENSP00000377734:I50F;ENSP00000421226:I50F;ENSP00000377739:I50F;ENSP00000377735:I50F;ENSP00000423590:I50F;ENSP00000426869:I50F;ENSP00000423732:I28F;ENSP00000425539:I50F;ENSP00000420913:I50F;ENSP00000421413:I50F;ENSP00000423151:I50F	ENSP00000340247:I50F	I	-	1	0	CLDND1	99722811	0.000000	0.05858	0.560000	0.28344	0.822000	0.46500	-0.874000	0.04210	-1.074000	0.03132	-0.316000	0.08728	ATC		0.413	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		33	63	0	0	0	1	0	33	63				
ADM2	79924	broad.mit.edu	37	22	50921172	50921172	+	Missense_Mutation	SNP	C	C	T	rs549309630		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:50921172C>T	ENST00000395738.2	+	2	579	c.287C>T	c.(286-288)tCg>tTg	p.S96L	ADM2_ENST00000362068.2_Missense_Mutation_p.R13W|ADM2_ENST00000395737.1_Missense_Mutation_p.S96L	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	96					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGACACTCGGGCCCCCGC	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14200	0.0		0.0	False		,,,				2504	0.001					ENST00000395738.2																			0				breast(1)|kidney(1)	2						c.(286-288)tCg>tTg		adrenomedullin 2							8.0	10.0	10.0					22																	50921172		2004	4015	6019	SO:0001583	missense	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921172C>T	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.287C>T	22.37:g.50921172C>T	ENSP00000379087:p.Ser96Leu					ADM2_ENST00000395737.1_Missense_Mutation_p.S96L|ADM2_ENST00000362068.2_Missense_Mutation_p.R13W	p.S96L	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	579	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	96					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.287C>T	CCDS33682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.828|4.828	0.153972|0.153972	0.09185|0.09185	.|.	.|.	ENSG00000128165|ENSG00000128165	ENST00000362068|ENST00000395738;ENST00000395737	.|.	.|.	.|.	4.21|4.21	-8.42|-8.42	0.00957|0.00957	.|.	.|.	.|.	.|.	.|.	T|T	0.13329|0.13329	0.0323|0.0323	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.25641|0.25641	-1.0126|-1.0126	6|8	0.51188|0.12430	T|T	0.08|0.62	.|.	8.3063|8.3063	0.32045|0.32045	0.0:0.1744:0.2823:0.5433|0.0:0.1744:0.2823:0.5433	.|.	.|96	.|Q7Z4H4	.|ADM2_HUMAN	W|L	13|96	.|.	ENSP00000354955:R13W|ENSP00000379086:S96L	R|S	+|+	1|2	2|0	ADM2|ADM2	49268038|49268038	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.345000|0.345000	0.29048|0.29048	-0.504000|-0.504000	0.06375|0.06375	-2.917000|-2.917000	0.00306|0.00306	-0.480000|-0.480000	0.04831|0.04831	CGG|TCG		0.697	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		11	7	0	0	0	1	0	11	7				
ZNF804B	219578	broad.mit.edu	37	7	88962841	88962841	+	Missense_Mutation	SNP	G	G	A	rs139327261	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr7:88962841G>A	ENST00000333190.4	+	4	1154	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATAAACAGCGGTCCACCATG	0.418										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(544-546)cGg>cAg		zinc finger protein 804B		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	114.0	110.0	112.0		545	4.4	0.7	7	dbSNP_134	112	0,8600		0,0,4300	no	missense	ZNF804B	NM_181646.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	182/1350	88962841	2,13004	2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962841G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.545G>A	7.37:g.88962841G>A	ENSP00000329638:p.Arg182Gln	HNSCC(36;0.09)					p.R182Q	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1154	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		182					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.545G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	7.945	0.743602	0.15642	4.54E-4	0.0	ENSG00000182348	ENST00000333190	T	0.04758	3.56	5.3	4.42	0.53409	.	0.116218	0.39210	N	0.001436	T	0.02455	0.0075	N	0.15975	0.35	0.22737	N	0.998798	B	0.33379	0.41	B	0.15052	0.012	T	0.46428	-0.9192	10	0.34782	T	0.22	-2.3836	7.1878	0.25809	0.249:0.0:0.751:0.0	.	182	A4D1E1	Z804B_HUMAN	Q	182	ENSP00000329638:R182Q	ENSP00000329638:R182Q	R	+	2	0	ZNF804B	88800777	0.588000	0.26799	0.733000	0.30861	0.781000	0.44180	2.548000	0.45794	1.488000	0.48433	0.650000	0.86243	CGG		0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		35	63	0	0	0	1	0	35	63				
CROCC	9696	broad.mit.edu	37	1	17256382	17256382	+	Silent	SNP	G	G	T	rs369720716		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:17256382G>T	ENST00000375541.5	+	4	462	c.393G>T	c.(391-393)acG>acT	p.T131T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCTGGAGACGCAGGAGCCCA	0.697																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(391-393)acG>acT		ciliary rootlet coiled-coil, rootletin							8.0	9.0	9.0					1																	17256382		2155	4213	6368	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17256382G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.393G>T	1.37:g.17256382G>T						CROCC_ENST00000467938.1_3'UTR	p.T131T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	4	462	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	131						Silent	SNP	ENST00000375541.5	37	c.393G>T	CCDS30616.1																																																																																				0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		2	2	1	0	0.115264	1	0.115264	2	2				
PMVK	10654	broad.mit.edu	37	1	154898884	154898884	+	Missense_Mutation	SNP	G	G	A	rs150445298	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:154898884G>A	ENST00000368467.3	-	4	693	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTACAACGCGGACCGTCTGC	0.622													G|||	35	0.00698882	0.0	0.0	5008	,	,		21146	0.0		0.0	False		,,,				2504	0.0358					ENST00000368467.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(388-390)Cgc>Tgc		phosphomevalonate kinase		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	81.0	62.0	68.0		388	4.6	0.9	1	dbSNP_134	68	0,8600		0,0,4300	no	missense	PMVK	NM_006556.3	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	130/193	154898884	2,13004	2203	4300	6503	SO:0001583	missense	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154898884G>A	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.388C>T	1.37:g.154898884G>A	ENSP00000357452:p.Arg130Cys						p.R130C	NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	693	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		130					Q5TZW9	Missense_Mutation	SNP	ENST00000368467.3	37	c.388C>T	CCDS1073.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117110	0.56505	4.54E-4	0.0	ENSG00000163344	ENST00000368467	T	0.41400	1.0	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72276	-0.4341	10	0.87932	D	0	-9.823	13.2686	0.60148	0.0:0.0:1.0:0.0	.	130	Q15126	PMVK_HUMAN	C	130	ENSP00000357452:R130C	ENSP00000357452:R130C	R	-	1	0	PMVK	153165508	1.000000	0.71417	0.892000	0.35008	0.053000	0.15095	4.037000	0.57311	2.266000	0.75297	0.561000	0.74099	CGC		0.622	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		4	62	0	0	0	1	0	4	62				
LRRC10	376132	broad.mit.edu	37	12	70004207	70004207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:70004207C>T	ENST00000361484.3	-	1	735	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	138					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGACCACATCCGGCAGCTGG	0.632																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(412-414)Gat>Aat		leucine rich repeat containing 10							56.0	59.0	58.0					12																	70004207		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004207C>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.412G>A	12.37:g.70004207C>T	ENSP00000355166:p.Asp138Asn						p.D138N	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	735	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		138					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.412G>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	5.694	0.312563	0.10789	.	.	ENSG00000198812	ENST00000361484	T	0.25085	1.82	5.62	2.84	0.33178	.	0.708626	0.15226	N	0.273678	T	0.15522	0.0374	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.17369	T	0.5	.	9.661	0.39954	0.0:0.7171:0.0:0.2829	.	138	Q5BKY1	LRC10_HUMAN	N	138	ENSP00000355166:D138N	ENSP00000355166:D138N	D	-	1	0	LRRC10	68290474	0.043000	0.20138	0.001000	0.08648	0.523000	0.34469	1.211000	0.32382	0.426000	0.26116	0.555000	0.69702	GAT		0.632	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		30	85	0	0	0	1	0	30	85				
ITGB3	3690	broad.mit.edu	37	17	45368453	45368453	+	Splice_Site	SNP	C	C	T	rs147758772		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:45368453C>T	ENST00000559488.1	+	9	1275	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	ITGB3_ENST00000560629.1_Splice_Site_p.H408H|ITGB3_ENST00000435993.2_Splice_Site_p.T373M|ITGB3_ENST00000571680.1_Missense_Mutation_p.T420M	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	420					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	ATTGGAGACACGGTGAGGTGG	0.542																																						ENST00000571680.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1258-1260)aCg>aTg		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	98.0	85.0	89.0		1259	5.3	1.0	17	dbSNP_134	89	0,8600		0,0,4300	yes	missense-near-splice	ITGB3	NM_000212.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	420/789	45368453	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45368453C>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1260+1C>T	17.37:g.45368453C>T						ITGB3_ENST00000560629.1_Splice_Site_p.H408_splice|ITGB3_ENST00000559488.1_Splice_Site_p.T420_splice|ITGB3_ENST00000435993.2_Splice_Site_p.T373_splice	p.T420M			P05106	ITB3_HUMAN			9	1268	+			420					A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1259C>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001150	0.93227	2.27E-4	0.0	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92965	-3.14	5.33	5.33	0.75918	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	L	0.52573	1.65	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.57324	0.745;0.818	D	0.93711	0.7024	10	0.52906	T	0.07	.	17.7885	0.88546	0.0:1.0:0.0:0.0	.	420;420	P05106;Q2YFE1	ITB3_HUMAN;.	M	420;373	ENSP00000407801:T373M	ENSP00000262017:T420M	T	+	2	0	C17orf57	42723452	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.783000	0.85696	2.494000	0.84150	0.462000	0.41574	ACG		0.542	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	Missense_Mutation	36	56	0	0	0	1	0	36	56				
DSCAM	1826	broad.mit.edu	37	21	41684252	41684252	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr21:41684252T>C	ENST00000400454.1	-	9	2295	c.1818A>G	c.(1816-1818)agA>agG	p.R606R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	606	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAATGGAGAATCTTGGAAACT	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1816-1818)agA>agG		Down syndrome cell adhesion molecule							40.0	37.0	38.0					21																	41684252		1872	4115	5987	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684252T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1818A>G	21.37:g.41684252T>C							p.R606R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			9	2295	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	606			Ig-like C2-type 7.		O60468	Silent	SNP	ENST00000400454.1	37	c.1818A>G	CCDS42929.1																																																																																				0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		16	42	0	0	0	1	0	16	42				
LILRA4	23547	broad.mit.edu	37	19	54850163	54850163	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:54850163A>G	ENST00000291759.4	-	2	100	c.44T>C	c.(43-45)cTg>cCg	p.L15P	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	15					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGGGGCCCAGGCTCAGCCC	0.622											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(43-45)cTg>cCg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							65.0	70.0	69.0					19																	54850163		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54850163A>G	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.44T>C	19.37:g.54850163A>G	ENSP00000291759:p.Leu15Pro		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.L15P	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	2	100	-	Ovarian(34;0.19)		15					Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.44T>C	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	7.263	0.605556	0.14002	.	.	ENSG00000239961	ENST00000291759	T	0.00561	6.59	2.5	1.43	0.22495	.	0.780131	0.10868	N	0.625306	T	0.01029	0.0034	M	0.91090	3.175	0.09310	N	0.999999	B	0.14438	0.01	B	0.04013	0.001	T	0.37174	-0.9717	10	0.72032	D	0.01	.	5.485	0.16745	0.709:0.291:0.0:0.0	.	15	P59901	LIRA4_HUMAN	P	15	ENSP00000291759:L15P	ENSP00000291759:L15P	L	-	2	0	LILRA4	59541975	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-0.015000	0.12634	0.351000	0.24027	0.455000	0.32223	CTG		0.622	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		18	27	0	0	0	1	0	18	27				
JRK	8629	broad.mit.edu	37	8	143745934	143745934	+	RNA	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:143745934C>A	ENST00000507178.2	-	0	1876							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				GCGCCCgcagctgccccactt	0.706																																						ENST00000507178.2																			0													jerky homolog (mouse)							12.0	16.0	15.0					8																	143745934		2148	4261	6409			8629							g.chr8:143745934C>A	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143745934C>A														0	1876	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	RNA	SNP	ENST00000507178.2	37																																																																																						0.706	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		8	6	1	0	1.26484e-09	1	1.3647e-09	8	6				
FNDC1	84624	broad.mit.edu	37	6	159655239	159655239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:159655239C>A	ENST00000297267.9	+	11	3895	c.3695C>A	c.(3694-3696)cCt>cAt	p.P1232H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1169H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1232					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTTGCCCCTCGCGGAGGG	0.697																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3694-3696)cCt>cAt		fibronectin type III domain containing 1							11.0	15.0	14.0					6																	159655239		1975	4135	6110	SO:0001583	missense	84624					extracellular region		g.chr6:159655239C>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3695C>A	6.37:g.159655239C>A	ENSP00000297267:p.Pro1232His					FNDC1_ENST00000340366.6_Missense_Mutation_p.P1169H	p.P1232H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3895	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1232					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3695C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903557	0.33628	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08282	3.11;3.9	4.33	3.45	0.39498	.	0.708972	0.12572	N	0.457243	T	0.02494	0.0076	L	0.27053	0.805	0.09310	N	1	B;B	0.22683	0.073;0.025	B;B	0.23018	0.043;0.01	T	0.42949	-0.9421	10	0.59425	D	0.04	.	11.4329	0.50052	0.1809:0.8191:0.0:0.0	.	1169;1232	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	1232;1169	ENSP00000297267:P1232H;ENSP00000342460:P1169H	ENSP00000297267:P1232H	P	+	2	0	FNDC1	159575229	0.003000	0.15002	0.000000	0.03702	0.049000	0.14656	1.568000	0.36418	0.788000	0.33755	-0.321000	0.08615	CCT		0.697	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	10	1	0	0.014758	1	0.0148485	4	10				
SERPINI1	5274	broad.mit.edu	37	3	167525052	167525052	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:167525052T>A	ENST00000295777.5	+	6	1333	c.902T>A	c.(901-903)aTt>aAt	p.I301N	SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	301					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAACAGGAAATTGATTTAAAA	0.338																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(901-903)aTt>aAt		serpin peptidase inhibitor, clade I (neuroserpin), member 1							64.0	70.0	68.0					3																	167525052		2203	4295	6498	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525052T>A	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.902T>A	3.37:g.167525052T>A	ENSP00000295777:p.Ile301Asn					SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N|SERPINI1_ENST00000488374.1_3'UTR	p.I301N	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			6	1333	+			301					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.902T>A	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.71|16.71	3.199587|3.199587	0.58126|0.58126	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	D;D|.	0.85556|.	-2.0;-2.0|.	5.36|5.36	4.2|4.2	0.49525|0.49525	Serpin domain (3);|.	0.199564|.	0.53938|.	D|.	0.000059|.	T|T	0.74512|0.74512	0.3726|0.3726	M|M	0.84683|0.84683	2.71|2.71	0.42680|0.42680	D|D	0.993543|0.993543	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.75291|0.75291	-0.3369|-0.3369	10|5	0.87932|.	D|.	0|.	.|.	9.7144|9.7144	0.40265|0.40265	0.0:0.0796:0.0:0.9204|0.0:0.0796:0.0:0.9204	.|.	301|.	Q99574|.	NEUS_HUMAN|.	N|K	301;301;49|9	ENSP00000397373:I301N;ENSP00000295777:I301N|.	ENSP00000295777:I301N|.	I|N	+|+	2|3	0|2	SERPINI1|SERPINI1	169007746|169007746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	3.140000|3.140000	0.50585|0.50585	0.875000|0.875000	0.35847|0.35847	-0.254000|-0.254000	0.11334|0.11334	ATT|AAT		0.338	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			68	221	0	0	0	1	0	68	221				
IQCG	84223	broad.mit.edu	37	3	197619560	197619560	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:197619560A>G	ENST00000265239.6	-	10	1458	c.1034T>C	c.(1033-1035)cTa>cCa	p.L345P	IQCG_ENST00000455191.1_Missense_Mutation_p.L345P|RNU6-858P_ENST00000362436.1_RNA	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	345						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAGAGCATTTAGTTCATTCTG	0.438																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1033-1035)cTa>cCa		IQ motif containing G							385.0	349.0	361.0					3																	197619560		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197619560A>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1034T>C	3.37:g.197619560A>G	ENSP00000265239:p.Leu345Pro					IQCG_ENST00000455191.1_Missense_Mutation_p.L345P	p.L345P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	10	1458	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		345					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.1034T>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221747	0.79464	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.57107	0.42;0.42	5.69	5.69	0.88448	.	0.105823	0.37261	N	0.002178	T	0.74199	0.3685	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77872	-0.2426	10	0.66056	D	0.02	-9.3492	15.6474	0.77065	1.0:0.0:0.0:0.0	.	345	Q9H095	IQCG_HUMAN	P	345	ENSP00000265239:L345P;ENSP00000407736:L345P	ENSP00000265239:L345P	L	-	2	0	IQCG	199103957	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	7.032000	0.76498	2.180000	0.69256	0.524000	0.50904	CTA		0.438	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		104	633	0	0	0	1	0	104	633				
N4BP2L1	90634	broad.mit.edu	37	13	32972595	32972595	+	IGR	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr13:32972595A>T	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N|BRCA2_ENST00000544455.1_Missense_Mutation_p.K3315N	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TAAAGAAAAAAGAACTGAATT	0.368																																						ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9943-9945)aaA>aaT	Homologous recombination	breast cancer 2, early onset							65.0	68.0	67.0					13																	32972595		2203	4300	6503	SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972595A>T	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972595A>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N	p.K3315N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10172	+		Lung SC(185;0.0262)	3315					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.9945A>T	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	A	12.19	1.863491	0.32884	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00737	5.76;5.76	5.43	-2.49	0.06403	.	1.256700	0.05113	N	0.489264	T	0.00552	0.0018	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48958	-0.8988	10	0.16896	T	0.51	.	0.1307	0.00073	0.3571:0.1991:0.1998:0.244	.	3315	P51587	BRCA2_HUMAN	N	3315	ENSP00000369497:K3315N;ENSP00000439902:K3315N	ENSP00000369497:K3315N	K	+	3	2	BRCA2	31870595	0.000000	0.05858	0.010000	0.14722	0.624000	0.37722	-0.189000	0.09629	0.123000	0.18342	0.383000	0.25322	AAA		0.368	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		34	51	0	0	0	1	0	34	51				
DLG2	1740	broad.mit.edu	37	11	84996292	84996292	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:84996292C>T	ENST00000376104.2	-	4	469	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTGTCATGGCACGGAGCAAG	0.383																																						ENST00000376104.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(157-159)tGc>tAc		discs, large homolog 2 (Drosophila)							222.0	198.0	205.0					11																	84996292		1568	3581	5149	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84996292C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.158G>A	11.37:g.84996292C>T	ENSP00000365272:p.Cys53Tyr					DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y	p.C53Y	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN			4	469	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000376104.2	37	c.158G>A	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	C	3.566	-0.088737	0.07097	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.12039	2.72;2.72	5.77	1.32	0.21799	.	0.696409	0.13032	N	0.419214	T	0.07143	0.0181	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.41875	-0.9484	9	.	.	.	.	7.7311	0.28788	0.0:0.4986:0.2597:0.2417	.	53	Q15700-2	.	Y	53	ENSP00000365272:C53Y;ENSP00000441994:C53Y	.	C	-	2	0	DLG2	84673940	0.084000	0.21492	0.001000	0.08648	0.033000	0.12548	0.174000	0.16743	0.264000	0.21851	0.655000	0.94253	TGC		0.383	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364		41	113	0	0	0	1	0	41	113				
SORCS1	114815	broad.mit.edu	37	10	108371726	108371726	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr10:108371726C>T	ENST00000263054.6	-	22	2983	c.2976G>A	c.(2974-2976)ccG>ccA	p.P992P	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Silent_p.P527P|SORCS1_ENST00000344440.6_Silent_p.P992P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	992					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGGATGTCCGGGTTGTAGT	0.483																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2974-2976)ccG>ccA		sortilin-related VPS10 domain containing receptor 1							115.0	103.0	107.0					10																	108371726		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108371726C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2976G>A	10.37:g.108371726C>T						SORCS1_ENST00000369698.1_Silent_p.P527P|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Silent_p.P992P	p.P992P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	22	2983	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	992					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.2976G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	8.039	0.763507	0.15914	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	-16.6406	3.9602	0.09407	0.2439:0.4444:0.1511:0.1606	.	.	.	.	Q	7	.	.	R	-	2	0	SORCS1	108361716	0.000000	0.05858	0.060000	0.19600	0.980000	0.70556	-5.328000	0.00131	-3.786000	0.00107	-1.004000	0.02495	CGG		0.483	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		24	27	0	0	0	1	0	24	27				
FAM160B1	57700	broad.mit.edu	37	10	116590627	116590627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr10:116590627C>G	ENST00000369248.4	+	2	397	c.62C>G	c.(61-63)cCt>cGt	p.P21R	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R|FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	21										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTCTCTTCCTTTACAAGAA	0.318																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(61-63)cCt>cGt		family with sequence similarity 160, member B1							155.0	142.0	146.0					10																	116590627		2203	4298	6501	SO:0001583	missense	57700							g.chr10:116590627C>G	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.62C>G	10.37:g.116590627C>G	ENSP00000358251:p.Pro21Arg					FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R|FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R	p.P21R	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			2	397	+			21					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.62C>G	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270049	0.80469	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000369246	T;T	0.15603	2.44;2.41	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.68621	0.923;0.959	T	0.19386	-1.0307	10	0.56958	D	0.05	-16.3417	17.639	0.88130	0.0:1.0:0.0:0.0	.	21;21	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	R	21	ENSP00000358251:P21R;ENSP00000358253:P21R	ENSP00000358249:P21R	P	+	2	0	FAM160B1	116580617	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.670000	0.83925	2.159000	0.67721	0.462000	0.41574	CCT		0.318	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		22	61	0	0	0	1	0	22	61				
ZNF484	83744	broad.mit.edu	37	9	95610231	95610231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:95610231C>T	ENST00000375495.3	-	5	986	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000395505.2_Missense_Mutation_p.E244K|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	280					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)	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCATGGCATTCATGCTGCTTT	0.428																																						ENST00000395505.2																			1	Substitution - Nonsense(1)	p.E280*(1)	cervix(1)	NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(730-732)Gaa>Aaa		zinc finger protein 484							96.0	91.0	93.0					9																	95610231		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610231C>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.838G>A	9.37:g.95610231C>T	ENSP00000364645:p.Glu280Lys					ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000375495.3_Missense_Mutation_p.E280K	p.E244K	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	822	-			280					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.730G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	2.670	-0.277868	0.05679	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	2.47	0.561	0.17285	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.13168	0.305	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.44544	-0.9321	9	0.12103	T	0.63	.	3.8506	0.08953	0.0:0.5985:0.2514:0.1501	.	282;280	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	244;282;280;244	ENSP00000378881:E244K;ENSP00000378882:E282K;ENSP00000364645:E280K;ENSP00000364646:E244K	ENSP00000364646:E244K	E	-	1	0	ZNF484	94650052	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-3.227000	0.00549	0.133000	0.18654	-0.272000	0.10252	GAA		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		33	121	0	0	0	1	0	33	121				
EXD3	54932	broad.mit.edu	37	9	140245541	140245541	+	Silent	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:140245541A>G	ENST00000340951.4	-	14	1638	c.1443T>C	c.(1441-1443)caT>caC	p.H481H	EXD3_ENST00000342129.4_Silent_p.H161H	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCTTCTCCACATGGGCCAGGG	0.672																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(1441-1443)caT>caC		exonuclease 3'-5' domain containing 3							21.0	25.0	23.0					9																	140245541		2018	4156	6174	SO:0001819	synonymous_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140245541A>G		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1443T>C	9.37:g.140245541A>G						EXD3_ENST00000342129.4_Silent_p.H161H	p.H481H	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			14	1638	-			481					Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	c.1443T>C	CCDS48066.1																																																																																				0.672	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		6	6	0	0	0	1	0	6	6				
KCNJ9	3765	broad.mit.edu	37	1	160054148	160054148	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:160054148G>C	ENST00000368088.3	+	2	570	c.328G>C	c.(328-330)Gcc>Ccc	p.A110P		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	110					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTGGCCGCCTTCCTCTT	0.677																																						ENST00000368088.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16						c.(328-330)Gcc>Ccc		potassium inwardly-rectifying channel, subfamily J, member 9							49.0	43.0	45.0					1																	160054148		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054148G>C	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.328G>C	1.37:g.160054148G>C	ENSP00000357067:p.Ala110Pro						p.A110P	NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	570	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		110					Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.328G>C	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075509	0.94000	.	.	ENSG00000162728	ENST00000368088	D	0.97455	-4.39	4.77	4.77	0.60923	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	.	16.5815	0.84716	0.0:0.0:1.0:0.0	.	110	Q92806	IRK9_HUMAN	P	110	ENSP00000357067:A110P	ENSP00000357067:A110P	A	+	1	0	KCNJ9	158320772	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.630000	0.98420	2.186000	0.69663	0.484000	0.47621	GCC		0.677	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		15	36	0	0	0	1	0	15	36				
ZC3H18	124245	broad.mit.edu	37	16	88689626	88689626	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:88689626G>A	ENST00000301011.5	+	10	1867		c.e10-1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCCGCCCCAGGTCGTCTTCG	0.657																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.e10-1		zinc finger CCCH-type containing 18							54.0	42.0	46.0					16																	88689626		2198	4299	6497	SO:0001630	splice_region_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88689626G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1668-1G>A	16.37:g.88689626G>A						ZC3H18_ENST00000452588.2_Splice_Site		NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	10	1867	+								Q96DG4|Q96MP7	Splice_Site	SNP	ENST00000301011.5	37		CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279552	0.40294	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H18	87217127	1.000000	0.71417	0.995000	0.50966	0.046000	0.14306	8.910000	0.92685	2.596000	0.87737	0.561000	0.74099	.		0.657	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	Intron	24	20	0	0	0	1	0	24	20				
MORC1	27136	broad.mit.edu	37	3	108773582	108773582	+	Silent	SNP	G	G	T	rs369150269		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:108773582G>T	ENST00000483760.1	-	14	1366	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	MORC1_ENST00000232603.5_Silent_p.T441T					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTGATGCCGGTGTCCTTAC	0.373																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1321-1323)acC>acA		MORC family CW-type zinc finger 1							169.0	162.0	165.0					3																	108773582		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773582G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1323C>A	3.37:g.108773582G>T						MORC1_ENST00000483760.1_Silent_p.T441T	p.T441T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			14	1405	-			441						Silent	SNP	ENST00000483760.1	37	c.1323C>A																																																																																					0.373	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			43	118	1	0	7.05121e-23	1	8.14365e-23	43	118				
IGHG4	3503	broad.mit.edu	37	14	106091490	106091490	+	RNA	SNP	C	C	T	rs374177525		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:106091490C>T	ENST00000390543.2	-	0	403							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CTCAGGGGTCCGGGAGATCAT	0.592																																						ENST00000390543.2																			0															C		0,4084		0,0,2042	90.0	108.0	102.0			-4.1	0.0	14		102	1,8405		0,1,4202	no	intergenic				0,1,6244	TT,TC,CC		0.0119,0.0,0.0080			106091490	1,12489	2042	4203	6245			3503							g.chr14:106091490C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091490C>T														0	403	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.592	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		35	192	0	0	0	1	0	35	192				
ROBO4	54538	broad.mit.edu	37	11	124756993	124756993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:124756993G>T	ENST00000306534.3	-	15	2800	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	772	Pro/Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTGGAAGCTGGGCTGGGGCC	0.652																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2314-2316)cCa>cAa		roundabout, axon guidance receptor, homolog 4 (Drosophila)							32.0	35.0	34.0					11																	124756993		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756993G>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2315C>A	11.37:g.124756993G>T	ENSP00000304945:p.Pro772Gln					RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q	p.P772Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	15	2800	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	772			Pro/Ser-rich.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2315C>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	g	19.71	3.877464	0.72294	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.68025	-0.3;0.09	4.61	3.66	0.41972	.	0.777638	0.10553	N	0.661246	T	0.74465	0.3720	M	0.66939	2.045	0.21675	N	0.999599	P;P;P	0.51791	0.911;0.948;0.914	P;P;P	0.55577	0.7;0.779;0.606	T	0.61103	-0.7130	10	0.56958	D	0.05	.	8.9875	0.36003	0.1111:0.0:0.8889:0.0	.	772;662;772	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	Q	772;662;627	ENSP00000304945:P772Q;ENSP00000437129:P627Q	ENSP00000304945:P772Q	P	-	2	0	ROBO4	124262203	0.903000	0.30736	0.764000	0.31436	0.992000	0.81027	1.143000	0.31553	0.904000	0.36572	0.552000	0.68991	CCA		0.652	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		29	45	1	0	1.77063e-15	1	1.98893e-15	29	45				
KTN1	3895	broad.mit.edu	37	14	56142559	56142559	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:56142559G>C	ENST00000395314.3	+	41	3846	c.3778G>C	c.(3778-3780)Gca>Cca	p.A1260P	KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P|KTN1_ENST00000416613.1_Missense_Mutation_p.A1260P|KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1260					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGTTGAAGGCACAGTTAAA	0.368			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3778-3780)Gca>Cca		kinectin 1 (kinesin receptor)							136.0	123.0	128.0					14																	56142559		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56142559G>C		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3778G>C	14.37:g.56142559G>C	ENSP00000378725:p.Ala1260Pro					KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000395314.3_Missense_Mutation_p.A1260P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P	p.A1260P			Q86UP2	KTN1_HUMAN			40	3850	+			1260					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.3778G>C	CCDS41957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.897574|2.897574	0.52121|0.52121	.|.	.|.	ENSG00000126777|ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000555573|ENST00000554294	T;T;T;T;T;T;T;T;T|.	0.78924|.	1.49;1.49;1.49;1.49;1.49;1.49;1.49;-1.22;-1.22|.	5.53|5.53	3.09|3.09	0.35607|0.35607	.|.	0.627229|.	0.14973|.	N|.	0.287736|.	T|T	0.18341|0.18341	0.0440|0.0440	N|N	0.08118|0.08118	0|0	0.22745|0.22745	N|N	0.998783|0.998783	B;B;B;B;B;B|.	0.28933|.	0.039;0.075;0.228;0.13;0.045;0.075|.	B;B;B;B;B;B|.	0.37015|.	0.124;0.124;0.239;0.176;0.071;0.158|.	T|T	0.25467|0.25467	-1.0131|-1.0131	10|5	0.66056|.	D|.	0.02|.	-0.288|-0.288	8.1954|8.1954	0.31394|0.31394	0.8156:0.0:0.1844:0.0|0.8156:0.0:0.1844:0.0	.|.	237;1232;498;1203;1209;1260|.	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2|.	.;.;.;.;.;KTN1_HUMAN|.	P|S	1209;1260;1203;1260;1209;1209;1260;498;237|30	ENSP00000394992:A1209P;ENSP00000378720:A1260P;ENSP00000391964:A1203P;ENSP00000378725:A1260P;ENSP00000378719:A1209P;ENSP00000378722:A1209P;ENSP00000388807:A1260P;ENSP00000452073:A498P;ENSP00000451698:A237P|.	ENSP00000334083:A55P|.	A|R	+|+	1|3	0|2	KTN1|KTN1	55212312|55212312	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	3.729000|3.729000	0.54999|0.54999	0.429000|0.429000	0.26202|0.26202	-0.312000|-0.312000	0.09012|0.09012	GCA|AGG		0.368	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			26	47	0	0	0	1	0	26	47				
SEMA5A	9037	broad.mit.edu	37	5	9202097	9202097	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:9202097T>C	ENST00000382496.5	-	9	1567	c.902A>G	c.(901-903)gAt>gGt	p.D301G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	301	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATAGATCAAATCCAGCTCAGG	0.438																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(901-903)gAt>gGt		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							66.0	65.0	65.0					5																	9202097		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202097T>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.902A>G	5.37:g.9202097T>C	ENSP00000371936:p.Asp301Gly						p.D301G	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			9	1567	-			301			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.902A>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750355	0.69533	.	.	ENSG00000112902	ENST00000382496	T	0.22945	1.93	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.048873	0.85682	D	0.000000	T	0.44265	0.1285	L	0.61218	1.895	0.48901	D	0.999724	D	0.59767	0.986	D	0.64237	0.923	T	0.20140	-1.0284	10	0.23302	T	0.38	.	14.1538	0.65405	0.0:0.0:0.0:1.0	.	301	Q13591	SEM5A_HUMAN	G	301	ENSP00000371936:D301G	ENSP00000371936:D301G	D	-	2	0	SEMA5A	9255097	1.000000	0.71417	0.865000	0.33974	0.993000	0.82548	5.777000	0.68931	2.227000	0.72691	0.533000	0.62120	GAT		0.438	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			34	43	0	0	0	1	0	34	43				
NT5DC2	64943	broad.mit.edu	37	3	52562303	52562303	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:52562303C>T	ENST00000307076.4	-	6	956	c.556G>A	c.(556-558)Gac>Aac	p.D186N	NT5DC2_ENST00000422318.2_Missense_Mutation_p.D223N|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D198N|NT5DC2_ENST00000307092.4_Missense_Mutation_p.D127N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	186							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAGAAGATGTCCATGAACTGC	0.572																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(556-558)Gac>Aac		5'-nucleotidase domain containing 2							75.0	78.0	77.0					3																	52562303		2203	4300	6503	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52562303C>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.556G>A	3.37:g.52562303C>T	ENSP00000302468:p.Asp186Asn					NT5DC2_ENST00000307092.4_Missense_Mutation_p.D127N|NT5DC2_ENST00000422318.2_Missense_Mutation_p.D223N|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D198N	p.D186N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	6	956	-			186					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.556G>A	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.023646|4.023646	0.75390|0.75390	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839;ENST00000471522|ENST00000489316	T;T;T;T;T|.	0.25912|.	1.77;1.77;1.77;1.77;1.77|.	4.65|4.65	4.65|4.65	0.58169|0.58169	HAD-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85035|0.85035	0.5605|0.5605	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.988;0.996|.	D;D;D|.	0.85130|.	0.997;0.93;0.959|.	D|D	0.88966|0.88966	0.3397|0.3397	10|5	0.72032|.	D|.	0.01|.	-33.1224|-33.1224	17.519|17.519	0.87782|0.87782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	198;186;223|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	N|E	127;186;223;198;34|107	ENSP00000306017:D127N;ENSP00000302468:D186N;ENSP00000406933:D223N;ENSP00000419547:D198N;ENSP00000418583:D34N|.	ENSP00000302468:D186N|.	D|G	-|-	1|2	0|0	NT5DC2|NT5DC2	52537343|52537343	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.435000|0.435000	0.31806|0.31806	7.463000|7.463000	0.80869|0.80869	2.158000|2.158000	0.67659|0.67659	0.313000|0.313000	0.20887|0.20887	GAC|GGA		0.572	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		4	55	0	0	0	1	0	4	55				
TIGD4	201798	broad.mit.edu	37	4	153691671	153691671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:153691671C>T	ENST00000304337.2	-	2	1306	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	162						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATTTTGGTACCAGACAGTCG	0.363																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(484-486)tgG>tgA		tigger transposable element derived 4							40.0	43.0	42.0					4																	153691671		2197	4296	6493	SO:0001587	stop_gained	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691671C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.486G>A	4.37:g.153691671C>T	ENSP00000355162:p.Trp162*						p.W162*	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1306	-	all_hematologic(180;0.093)		162					Q96LP5	Nonsense_Mutation	SNP	ENST00000304337.2	37	c.486G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	43	9.851101	0.99279	.	.	ENSG00000169989	ENST00000304337	.	.	.	6.03	6.03	0.97812	.	0.000000	0.46758	D	0.000270	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5451	20.1672	0.98154	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000355162:W162X	W	-	3	0	TIGD4	153911121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.463000	0.66712	2.861000	0.98227	0.655000	0.94253	TGG		0.363	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		35	30	0	0	0	1	0	35	30				
RAG2	5897	broad.mit.edu	37	11	36614195	36614195	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:36614195T>A	ENST00000311485.3	-	2	1685	c.1524A>T	c.(1522-1524)aaA>aaT	p.K508N	C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000446510.2_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	508					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCCAGAACCTTTTTTACGGA	0.393									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(1522-1524)aaA>aaT		recombination activating gene 2							58.0	64.0	62.0					11																	36614195		2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614195T>A	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1524A>T	11.37:g.36614195T>A	ENSP00000308620:p.Lys508Asn						p.K508N	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	1685	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	508					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1524A>T	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.749613	0.49257	.	.	ENSG00000175097	ENST00000311485	D	0.97186	-4.28	5.37	-6.4	0.01944	.	0.049185	0.85682	D	0.000000	D	0.96380	0.8819	L	0.46157	1.445	0.40519	D	0.980815	D	0.71674	0.998	P	0.61940	0.896	D	0.94723	0.7902	10	0.87932	D	0	-15.4037	15.6419	0.77012	0.0:0.5332:0.0:0.4668	.	508	P55895	RAG2_HUMAN	N	508	ENSP00000308620:K508N	ENSP00000308620:K508N	K	-	3	2	RAG2	36570771	0.119000	0.22226	0.773000	0.31616	0.858000	0.48976	-0.028000	0.12350	-1.437000	0.01967	-1.080000	0.02220	AAA		0.393	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		4	43	0	0	0	1	0	4	43				
CLCA2	9635	broad.mit.edu	37	1	86913313	86913313	+	Silent	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:86913313A>G	ENST00000370565.4	+	11	1998	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	612					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTTTGTGGAAAGAGACAGCC	0.493																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(1834-1836)gaA>gaG		chloride channel accessory 2							144.0	137.0	140.0					1																	86913313		2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86913313A>G		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1836A>G	1.37:g.86913313A>G							p.E612E	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	11	1998	+		Lung NSC(277;0.238)	612					A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.1836A>G	CCDS708.1																																																																																				0.493	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		63	105	0	0	0	1	0	63	105				
OR2T12	127064	broad.mit.edu	37	1	248458473	248458473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:248458473C>T	ENST00000317996.1	-	1	407	c.408G>A	c.(406-408)tgG>tgA	p.W136*		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGCACAGCTGCCAGCTCATGA	0.607																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(406-408)tgG>tgA		olfactory receptor, family 2, subfamily T, member 12							23.0	26.0	25.0					1																	248458473		2181	4281	6462	SO:0001587	stop_gained	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458473C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.408G>A	1.37:g.248458473C>T	ENSP00000324583:p.Trp136*						p.W136*	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	407	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		136						Nonsense_Mutation	SNP	ENST00000317996.1	37	c.408G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.844048	0.32606	.	.	ENSG00000177201	ENST00000317996	.	.	.	1.55	-1.56	0.08532	.	1.087340	0.07297	U	0.873535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	2.5452	0.04736	0.1573:0.2423:0.4569:0.1435	.	.	.	.	X	136	.	ENSP00000324583:W136X	W	-	3	0	OR2T12	246525096	0.000000	0.05858	0.004000	0.12327	0.235000	0.25334	-3.575000	0.00426	-0.310000	0.08766	0.175000	0.17021	TGG		0.607	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		25	31	0	0	0	1	0	25	31				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			6	32	0	0	0	1	0	6	32				
CRIPAK	285464	broad.mit.edu	37	4	1388818	1388818	+	Silent	SNP	A	A	T	rs142640592	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:1388818A>T	ENST00000324803.4	+	1	3479	c.519A>T	c.(517-519)ccA>ccT	p.P173P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	173					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACACGTGCCCATGTGGAGTGC	0.682																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(517-519)ccA>ccT		cysteine-rich PAK1 inhibitor																																				SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388818A>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.519A>T	4.37:g.1388818A>T							p.P173P	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3479	+			173					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.519A>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	a	6.993	0.553283	0.13374	.	.	ENSG00000179979	ENST00000382944	.	.	.	1.25	-2.49	0.06403	.	.	.	.	.	T	0.08846	0.0219	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26224	-1.0109	5	0.02654	T	1	.	3.709	0.08413	0.4786:0.3393:0.1821:0.0	.	.	.	.	L	157	.	ENSP00000372402:M157L	M	+	1	0	CRIPAK	1378818	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.356000	0.07661	-1.466000	0.01897	0.102000	0.15555	ATG		0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		4	14	0	0	0	1	0	4	14				
PCDHB2	56133	broad.mit.edu	37	5	140475051	140475051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:140475051G>A	ENST00000194155.4	+	1	825	c.677G>A	c.(676-678)gGc>gAc	p.G226D		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGTCCGGCACGGCCCTG	0.582																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(676-678)gGc>gAc									42.0	45.0	44.0					5																	140475051		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475051G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.677G>A	5.37:g.140475051G>A	ENSP00000194155:p.Gly226Asp						p.G226D	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	825	+			226			Cadherin 2.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.677G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451809	0.63290	.	.	ENSG00000112852	ENST00000194155	T	0.54279	0.58	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77068	0.4076	M	0.84433	2.695	0.43047	D	0.994648	D	0.89917	1.0	D	0.87578	0.998	T	0.80723	-0.1255	9	0.87932	D	0	.	19.1926	0.93672	0.0:0.0:1.0:0.0	.	226	Q9Y5E7	PCDB2_HUMAN	D	226	ENSP00000194155:G226D	ENSP00000194155:G226D	G	+	2	0	PCDHB2	140455235	1.000000	0.71417	0.946000	0.38457	0.498000	0.33706	4.712000	0.61888	2.695000	0.91970	0.655000	0.94253	GGC		0.582	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		11	27	0	0	0	1	0	11	27				
TTN	7273	broad.mit.edu	37	2	179484368	179484368	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:179484368C>G	ENST00000591111.1	-	200	41977	c.41753G>C	c.(41752-41754)aGa>aCa	p.R13918T	TTN_ENST00000342992.6_Missense_Mutation_p.R12991T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN_ENST00000589042.1_Missense_Mutation_p.R15559T|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13918					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)			AAGCTTAGCTCTGGCTTCTTT	0.373																																						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.(46675-46677)aGa>aCa		titin							153.0	152.0	152.0					2																	179484368		1852	4091	5943	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179484368C>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.41753G>C	2.37:g.179484368C>G	ENSP00000465570:p.Arg13918Thr					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12991T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13918T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T	p.R15559T	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)		250	46900	-			13918			Fibronectin type-III 13.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46676G>C		.	.	.	.	.	.	.	.	.	.	c	7.760	0.705096	0.15172	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.12;0.11;0.09	5.79	2.1	0.27182	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45657	0.1353	N	0.10733	0.035	0.30124	N	0.805415	B;P;P;P	0.35493	0.324;0.505;0.505;0.505	B;B;B;B	0.42319	0.174;0.383;0.383;0.383	T	0.49428	-0.8941	9	0.87932	D	0	.	8.2549	0.31748	0.0:0.7002:0.1131:0.1867	.	6494;6619;6686;13918	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	12991;6494;6686;6619;6494	ENSP00000343764:R12991T;ENSP00000434586:R6494T;ENSP00000340554:R6686T;ENSP00000352154:R6619T	ENSP00000340554:R6686T	R	-	2	0	TTN	179192613	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	1.092000	0.30927	0.118000	0.18165	-1.640000	0.00773	AGA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	75	0	0	0	1	0	43	75				
SLCO5A1	81796	broad.mit.edu	37	8	70667725	70667725	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:70667725T>C	ENST00000260126.4	-	4	1898	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	398						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTGTTTGATTTCTCCTTCAGA	0.358																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1192-1194)Aaa>Gaa		solute carrier organic anion transporter family, member 5A1							136.0	116.0	123.0					8																	70667725		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70667725T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1192A>G	8.37:g.70667725T>C	ENSP00000260126:p.Lys398Glu					SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E	p.K398E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		4	1898	-	Breast(64;0.0654)		398					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1192A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708674	0.48517	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.38240	1.15;1.15;1.15	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.139200	0.07183	N	0.854362	T	0.45013	0.1321	N	0.17872	0.535	0.39925	D	0.974215	D;P;B;B	0.63046	0.992;0.489;0.042;0.36	D;B;B;B	0.63283	0.913;0.176;0.037;0.161	T	0.11060	-1.0603	10	0.16896	T	0.51	.	15.5495	0.76137	0.0:0.0:0.0:1.0	.	398;398;398;398	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	E	398	ENSP00000260126:K398E;ENSP00000434422:K398E;ENSP00000431611:K398E	ENSP00000260126:K398E	K	-	1	0	SLCO5A1	70830279	1.000000	0.71417	0.998000	0.56505	0.153000	0.21895	7.633000	0.83260	2.248000	0.74166	0.460000	0.39030	AAA		0.358	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		28	49	0	0	0	1	0	28	49				
ALPK2	115701	broad.mit.edu	37	18	56205156	56205156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr18:56205156C>T	ENST00000361673.3	-	5	2476	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	755						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGAGAACACACCTGGGGAC	0.502																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2263-2265)Gtg>Atg		alpha-kinase 2							226.0	213.0	217.0					18																	56205156		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56205156C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2263G>A	18.37:g.56205156C>T	ENSP00000354991:p.Val755Met					RP11-1151B14.4_ENST00000591360.1_RNA	p.V755M	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	2476	-			755					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.2263G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727346	0.30593	.	.	ENSG00000198796	ENST00000361673	T	0.43688	0.94	5.81	1.48	0.22813	.	2.809730	0.00868	N	0.001987	T	0.38295	0.1035	L	0.36672	1.1	0.09310	N	1	P;P	0.51449	0.945;0.776	P;B	0.45449	0.481;0.258	T	0.17018	-1.0383	10	0.48119	T	0.1	-0.101	4.2625	0.10747	0.0:0.499:0.1751:0.3259	.	755;755	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	M	755	ENSP00000354991:V755M	ENSP00000354991:V755M	V	-	1	0	ALPK2	54356136	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.459000	0.21908	0.213000	0.20722	0.591000	0.81541	GTG		0.502	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		6	121	0	0	0	1	0	6	121				
OLFML2A	169611	broad.mit.edu	37	9	127566456	127566456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:127566456G>A	ENST00000373580.3	+	6	1003	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	335					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCCCAACTCCGCAGAGCAGGA	0.652																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1003-1005)Gca>Aca		olfactomedin-like 2A							56.0	52.0	53.0					9																	127566456		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127566456G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1003G>A	9.37:g.127566456G>A	ENSP00000362682:p.Ala335Thr					OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T	p.A335T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			6	1003	+			335					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1003G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343621	0.41498	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580;ENST00000288815	T;T;T	0.38401	1.14;1.14;1.14	4.84	-0.913	0.10500	.	0.694765	0.14360	N	0.324481	T	0.21145	0.0509	L	0.54323	1.7	0.09310	N	1	B;B;B	0.30033	0.266;0.001;0.014	B;B;B	0.21151	0.033;0.003;0.003	T	0.15093	-1.0449	10	0.17369	T	0.5	.	0.8529	0.01176	0.187:0.1554:0.3396:0.3179	.	299;121;335	Q5JTM7;Q68BL7-3;Q68BL7	.;.;OLM2A_HUMAN	T	299;299;335;121	ENSP00000336425:A299T;ENSP00000362682:A335T;ENSP00000288815:A121T	ENSP00000288815:A121T	A	+	1	0	OLFML2A	126606277	0.000000	0.05858	0.000000	0.03702	0.383000	0.30230	0.147000	0.16202	-0.068000	0.12953	0.563000	0.77884	GCA		0.652	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		47	22	0	0	0	1	0	47	22				
LRRIQ4	344657	broad.mit.edu	37	3	169540249	169540249	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:169540249C>T	ENST00000340806.6	+	1	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGAAGTTTTCCCCCAGGAGC	0.517																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(538-540)ttC>ttT		leucine-rich repeats and IQ motif containing 4							63.0	65.0	64.0					3																	169540249		1881	4110	5991	SO:0001819	synonymous_variant	344657							g.chr3:169540249C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.540C>T	3.37:g.169540249C>T							p.F180F	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	540	+			180						Silent	SNP	ENST00000340806.6	37	c.540C>T	CCDS46951.1																																																																																				0.517	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		48	252	0	0	0	1	0	48	252				
SELPLG	6404	broad.mit.edu	37	12	109016914	109016914	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:109016914C>A	ENST00000550948.1	-	2	1394	c.1170G>T	c.(1168-1170)ccG>ccT	p.P390P	SELPLG_ENST00000228463.6_Silent_p.P406P|SELPLG_ENST00000388962.3_Silent_p.P380P			Q14242	SELPL_HUMAN	selectin P ligand	390					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCGTCAGGCCCGGGCTCTTGG	0.642																																						ENST00000388962.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(1138-1140)ccG>ccT		selectin P ligand							33.0	34.0	33.0					12																	109016914		2202	4300	6502	SO:0001819	synonymous_variant	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109016914C>A		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.1170G>T	12.37:g.109016914C>A						SELPLG_ENST00000550948.1_Silent_p.P390P|SELPLG_ENST00000228463.6_Silent_p.P406P	p.P380P	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN			3	1299	-			390					A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	c.1140G>T	CCDS31895.2																																																																																				0.642	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			20	8	1	0	8.00594e-06	1	8.4165e-06	20	8				
KCNU1	157855	broad.mit.edu	37	8	36766941	36766941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:36766941C>G	ENST00000399881.3	+	21	2256	c.2219C>G	c.(2218-2220)gCc>gGc	p.A740G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	740					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTTGAGAGCCAGCAACTAT	0.458																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2218-2220)gCc>gGc		potassium channel, subfamily U, member 1							199.0	195.0	196.0					8																	36766941		1889	4109	5998	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766941C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2219C>G	8.37:g.36766941C>G	ENSP00000382770:p.Ala740Gly						p.A740G	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2256	+			740						Missense_Mutation	SNP	ENST00000399881.3	37	c.2219C>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244978	0.95272	.	.	ENSG00000215262	ENST00000399881	T	0.55413	0.52	5.8	5.8	0.92144	.	0.000000	0.37715	U	0.001963	T	0.69922	0.3165	M	0.85462	2.755	0.80722	D	1	D	0.58268	0.982	P	0.51415	0.669	T	0.74754	-0.3558	10	0.62326	D	0.03	-9.6585	19.6593	0.95859	0.0:1.0:0.0:0.0	.	740	A8MYU2	KCNU1_HUMAN	G	740	ENSP00000382770:A740G	ENSP00000382770:A740G	A	+	2	0	KCNU1	36886099	1.000000	0.71417	0.972000	0.41901	0.828000	0.46876	7.228000	0.78079	2.745000	0.94114	0.655000	0.94253	GCC		0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		106	247	0	0	0	1	0	106	247				
ARID1A	8289	broad.mit.edu	37	1	27089635	27089635	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:27089635G>T	ENST00000324856.7	+	8	2962	c.2591G>T	c.(2590-2592)gGc>gTc	p.G864V	ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V|ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	864					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTCCATGGGCAACCGGCCT	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2590-2592)gGc>gTc		AT rich interactive domain 1A (SWI-like)							80.0	67.0	71.0					1																	27089635		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27089635G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2591G>T	1.37:g.27089635G>T	ENSP00000320485:p.Gly864Val					ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V|ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V	p.G864V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	8	2962	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	864					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2591G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667903	0.67814	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03212	4.22;4.01;4.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.00011	-1.2443	10	0.46703	T	0.11	-10.0287	19.9142	0.97043	0.0:0.0:1.0:0.0	.	864;864;518	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	V	864;864;481	ENSP00000320485:G864V;ENSP00000387636:G864V;ENSP00000363267:G481V	ENSP00000320485:G864V	G	+	2	0	ARID1A	26962222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.235000	0.95353	2.941000	0.99782	0.655000	0.94253	GGC		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		15	15	1	0	1.5739e-10	1	1.72079e-10	15	15				
SF3B3	23450	broad.mit.edu	37	16	70590203	70590203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:70590203A>T	ENST00000302516.5	+	14	2043	c.1832A>T	c.(1831-1833)gAc>gTc	p.D611V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	611					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGGCTTGTGGACAACACTGTC	0.542																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1831-1833)gAc>gTc		splicing factor 3b, subunit 3, 130kDa							228.0	185.0	200.0					16																	70590203		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70590203A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1832A>T	16.37:g.70590203A>T	ENSP00000305790:p.Asp611Val						p.D611V	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			14	2043	+		Ovarian(137;0.0694)	611					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.1832A>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.912918	0.92178	.	.	ENSG00000189091	ENST00000302516	T	0.27890	1.64	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77854	-0.2433	10	0.87932	D	0	.	15.5219	0.75871	1.0:0.0:0.0:0.0	.	611	Q15393	SF3B3_HUMAN	V	611	ENSP00000305790:D611V	ENSP00000305790:D611V	D	+	2	0	SF3B3	69147704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.082000	0.62665	0.533000	0.62120	GAC		0.542	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		59	157	0	0	0	1	0	59	157				
RYR2	6262	broad.mit.edu	37	1	237949308	237949308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:237949308G>C	ENST00000366574.2	+	91	13617	c.13300G>C	c.(13300-13302)Gaa>Caa	p.E4434Q	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4434	Glu-rich (acidic).				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			agaaaaagaagaaACCAAATC	0.358																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(13300-13302)Gaa>Caa		ryanodine receptor 2 (cardiac)							116.0	120.0	119.0					1																	237949308		1828	4094	5922	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237949308G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13300G>C	1.37:g.237949308G>C	ENSP00000355533:p.Glu4434Gln					RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q	p.E4434Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		91	13617	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4434			Glu-rich (acidic).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13300G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697010	0.68386	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93859	-3.3;-3.3;-3.3	4.93	4.93	0.64822	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	D	0.000009	D	0.90714	0.7086	L	0.42245	1.32	0.80722	D	1	P;P	0.48089	0.905;0.905	P;P	0.44772	0.46;0.46	D	0.88843	0.3314	10	0.21540	T	0.41	-6.3732	15.2146	0.73254	0.0:0.0:1.0:0.0	.	1408;4434	B4DGV4;Q92736	.;RYR2_HUMAN	Q	4434;4440;4418;1408	ENSP00000355533:E4434Q;ENSP00000353174:E4440Q;ENSP00000443798:E4418Q	ENSP00000353174:E4440Q	E	+	1	0	RYR2	236015931	1.000000	0.71417	0.984000	0.44739	0.936000	0.57629	4.790000	0.62453	2.422000	0.82143	0.655000	0.94253	GAA		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	6	0	0	0	1	0	5	6				
ZNF285	26974	broad.mit.edu	37	19	44890792	44890792	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:44890792G>C	ENST00000330997.4	-	4	1679	c.1615C>G	c.(1615-1617)Ccc>Gcc	p.P539A	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	539					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(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTTATAGGGCCTCTCTCTT	0.438																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1615-1617)Ccc>Gcc		zinc finger protein 285							102.0	97.0	99.0					19																	44890792		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44890792G>C	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1615C>G	19.37:g.44890792G>C	ENSP00000333595:p.Pro539Ala					ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A|CTC-512J12.6_ENST00000588212.1_Intron	p.P539A	NM_152354.3	NP_689567.3					4	1679	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1615C>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587557	0.66105	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.16457	2.34	3.62	3.62	0.41486	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47619	0.1455	M	0.88310	2.945	0.28629	N	0.90774	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	T	0.49597	-0.8923	9	0.87932	D	0	.	14.4934	0.67667	0.0:0.0:1.0:0.0	.	563;539	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	A	562;539	ENSP00000333595:P539A	ENSP00000333595:P539A	P	-	1	0	ZNF285	49582632	0.998000	0.40836	0.997000	0.53966	0.978000	0.69477	2.629000	0.46485	1.759000	0.51996	0.454000	0.30748	CCC		0.438	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		36	27	0	0	0	1	0	36	27				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	27	0	0	0	1	0	3	27				
BARHL2	343472	broad.mit.edu	37	1	91178026	91178026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:91178026G>A	ENST00000370445.4	-	3	1048	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	336					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCTGTACATGGCAGCGGCAGC	0.647																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1006-1008)gCc>gTc		BarH-like homeobox 2							19.0	24.0	22.0					1																	91178026		2203	4298	6501	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91178026G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.1007C>T	1.37:g.91178026G>A	ENSP00000359474:p.Ala336Val						p.A336V	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	3	1048	-		all_lung(203;0.0263)|Lung SC(238;0.128)	336					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.1007C>T	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640717	0.67244	.	.	ENSG00000143032	ENST00000370445	D	0.91894	-2.93	5.4	5.4	0.78164	.	0.106984	0.64402	D	0.000007	D	0.85673	0.5751	L	0.34521	1.04	0.58432	D	0.999998	P	0.41978	0.767	B	0.43990	0.438	D	0.84359	0.0537	10	0.15499	T	0.54	.	19.1643	0.93548	0.0:0.0:1.0:0.0	.	336	Q9NY43	BARH2_HUMAN	V	336	ENSP00000359474:A336V	ENSP00000359474:A336V	A	-	2	0	BARHL2	90950614	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.178000	0.77657	2.706000	0.92434	0.561000	0.74099	GCC		0.647	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			7	15	0	0	0	1	0	7	15				
FAM178A	55719	broad.mit.edu	37	10	102684308	102684308	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr10:102684308A>G	ENST00000238961.4	+	5	2092	c.1550A>G	c.(1549-1551)gAa>gGa	p.E517G	FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	517						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CATTCTACAGAATCCACCAAA	0.393																																						ENST00000238961.3																			0											c.(1549-1551)gAa>gGa		family with sequence similarity 178, member A							89.0	92.0	91.0					10																	102684308		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102684308A>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1550A>G	10.37:g.102684308A>G	ENSP00000238961:p.Glu517Gly					FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G	p.E517G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1698	+			517					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1550A>G	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289651	0.40494	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.51071	0.72;1.36;1.35	6.03	3.4	0.38934	.	0.000000	0.52532	D	0.000062	T	0.41351	0.1155	L	0.27053	0.805	0.36049	D	0.840606	P;P;P;P	0.50272	0.933;0.779;0.779;0.933	P;B;B;P	0.49829	0.623;0.367;0.367;0.623	T	0.53401	-0.8444	10	0.72032	D	0.01	-9.6857	9.1649	0.37046	0.6946:0.0:0.0:0.3054	.	166;517;517;517	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	G	517	ENSP00000359294:E517G;ENSP00000238961:E517G;ENSP00000359292:E517G	ENSP00000238961:E517G	E	+	2	0	FAM178A	102674298	0.991000	0.36638	0.998000	0.56505	0.804000	0.45430	1.525000	0.35953	1.062000	0.40625	0.533000	0.62120	GAA		0.393	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			70	82	0	0	0	1	0	70	82				
MTHFD1L	25902	broad.mit.edu	37	6	151293189	151293189	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:151293189T>A	ENST00000367321.3	+	20	2394	c.2120T>A	c.(2119-2121)tTt>tAt	p.F707Y	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	707	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAAGAAGGATTTGTAGGTAAG	0.398																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2119-2121)tTt>tAt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							87.0	82.0	84.0					6																	151293189		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151293189T>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2120T>A	6.37:g.151293189T>A	ENSP00000356290:p.Phe707Tyr					MTHFD1L_ENST00000478643.1_3'UTR	p.F707Y	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	20	2394	+		Ovarian(120;0.128)	707			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.2120T>A	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	T	8.073	0.770737	0.15983	.	.	ENSG00000120254	ENST00000367321	T	0.17370	2.28	5.8	4.63	0.57726	.	0.164644	0.56097	D	0.000031	T	0.01870	0.0059	N	0.03967	-0.31	0.80722	D	1	P;B;B	0.35628	0.513;0.015;0.068	B;B;B	0.31869	0.137;0.107;0.093	T	0.29941	-0.9995	10	0.06891	T	0.86	.	10.0319	0.42105	0.2683:0.0:0.0:0.7317	.	708;462;707	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Y	707	ENSP00000356290:F707Y	ENSP00000356290:F707Y	F	+	2	0	MTHFD1L	151334882	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	3.040000	0.49799	1.011000	0.39340	0.533000	0.62120	TTT		0.398	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		19	50	0	0	0	1	0	19	50				
MYT1L	23040	broad.mit.edu	37	2	1843127	1843127	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:1843127C>A	ENST00000399161.2	-	21	3621	c.2874G>T	c.(2872-2874)ggG>ggT	p.G958G	MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	958					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCCGTCGCACCCGGGGACCG	0.617																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2872-2874)ggG>ggT		myelin transcription factor 1-like							38.0	45.0	43.0					2																	1843127		2020	4146	6166	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1843127C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2874G>T	2.37:g.1843127C>A						MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000471668.1_5'UTR	p.G958G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3621	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	958					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2874G>T																																																																																					0.617	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		30	53	1	0	2.68265e-12	1	2.97267e-12	30	53				
MYO18B	84700	broad.mit.edu	37	22	26242142	26242142	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:26242142C>G	ENST00000407587.2	+	19	3616	c.3447C>G	c.(3445-3447)ggC>ggG	p.G1149G	MYO18B_ENST00000335473.7_Silent_p.G1148G|MYO18B_ENST00000536101.1_Silent_p.G1148G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1148	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTGGAGGGCACCTCCCAGC	0.667																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3442-3444)ggC>ggG		myosin XVIIIB							28.0	34.0	32.0					22																	26242142		2023	4182	6205	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26242142C>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3447C>G	22.37:g.26242142C>G						MYO18B_ENST00000407587.2_Silent_p.G1149G|MYO18B_ENST00000536101.1_Silent_p.G1148G	p.G1148G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			19	3694	+			1148			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.3444C>G																																																																																					0.667	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	15	0	0	0	1	0	9	15				
KCNJ8	3764	broad.mit.edu	37	12	21918866	21918866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:21918866G>A	ENST00000240662.2	-	3	1411	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	356					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TCCAGCTCTCGGGCACTGCAC	0.463																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1066-1068)Cga>Tga		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						126.0	125.0	126.0					12																	21918866		2203	4300	6503	SO:0001587	stop_gained	3764					voltage-gated potassium channel complex		g.chr12:21918866G>A	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1066C>T	12.37:g.21918866G>A	ENSP00000240662:p.Arg356*					RP11-59N23.1_ENST00000542489.1_RNA	p.R356*	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1411	-			356					O00657	Nonsense_Mutation	SNP	ENST00000240662.2	37	c.1066C>T	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	G	38	7.081448	0.98051	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	.	.	.	5.55	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.4908	0.38958	0.0768:0.0:0.7024:0.2208	.	.	.	.	X	356	.	ENSP00000240662:R356X	R	-	1	2	KCNJ8	21810133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.614000	0.36911	1.581000	0.49865	0.655000	0.94253	CGA		0.463	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		72	152	0	0	0	1	0	72	152				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	11	0	0	0	1	0	4	11				
ZNF214	7761	broad.mit.edu	37	11	7021319	7021319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:7021319C>T	ENST00000278314.4	-	3	1910	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAAACCCTTTCCACAATCATG	0.413																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1594-1596)gGa>gAa		zinc finger protein 214							130.0	132.0	132.0					11																	7021319		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021319C>T	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1595G>A	11.37:g.7021319C>T	ENSP00000278314:p.Gly532Glu					ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E	p.G532E	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1910	-			532					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1595G>A	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101918	0.56183	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.58210	0.35;0.35	4.16	4.16	0.48862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41396	D	0.000890	T	0.61714	0.2369	L	0.38838	1.175	0.34362	D	0.691081	D	0.76494	0.999	D	0.74023	0.982	T	0.70015	-0.4988	10	0.49607	T	0.09	.	14.7528	0.69540	0.0:1.0:0.0:0.0	.	532	Q9UL59	ZN214_HUMAN	E	532	ENSP00000278314:G532E;ENSP00000445373:G532E	ENSP00000278314:G532E	G	-	2	0	ZNF214	6977895	0.989000	0.36119	0.999000	0.59377	0.922000	0.55478	2.200000	0.42724	2.607000	0.88179	0.561000	0.74099	GGA		0.413	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			56	41	0	0	0	1	0	56	41				
C17orf62	79415	broad.mit.edu	37	17	80401777	80401777	+	3'UTR	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:80401777G>C	ENST00000437807.2	-	0	984				C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000336995.7_Silent_p.P74P|C17orf62_ENST00000585064.1_3'UTR|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583359.1_5'Flank	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGCACACCGGGAATGTGCC	0.706																																						ENST00000336995.7																			0				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8						c.(220-222)ccC>ccG		chromosome 17 open reading frame 62																																				SO:0001624	3_prime_UTR_variant	79415					integral to membrane	protein binding	g.chr17:80401777G>C	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.*103C>G	17.37:g.80401777G>C						C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000585064.1_3'UTR	p.P74P			Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		6	669	-	Breast(20;0.00106)|all_neural(118;0.0804)		0					E1B6X3|Q96NR1	Silent	SNP	ENST00000437807.2	37	c.222C>G	CCDS32776.1																																																																																				0.706	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		8	168	0	0	0	1	0	8	168				
ENTPD8	377841	broad.mit.edu	37	9	140327703	140327703	+	IGR	SNP	C	C	T	rs375618437		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:140327703C>T	ENST00000472938.1	-	0	1749				NOXA1_ENST00000341349.2_Silent_p.P299P|NOXA1_ENST00000392815.2_Silent_p.P243P			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTGAGGACCCCGCGGGTGCTG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15374	0.0		0.0	False		,,,				2504	0.001					ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(895-897)ccC>ccT		NADPH oxidase activator 1		C		1,4335		0,1,2167	9.0	11.0	11.0		897	-4.3	0.0	9		11	0,8554		0,0,4277	no	coding-synonymous	NOXA1	NM_006647.1		0,1,6444	TT,TC,CC		0.0,0.0231,0.0078		299/484	140327703	1,12889	2168	4277	6445	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140327703C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327703C>T						NOXA1_ENST00000392815.2_Silent_p.P243P	p.P299P	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	10	1077	+	all_cancers(76;0.0926)		299		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).			A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.897C>T	CCDS43913.1																																																																																				0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		4	13	0	0	0	1	0	4	13				
CD1A	909	broad.mit.edu	37	1	158226702	158226702	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:158226702A>T	ENST00000289429.5	+	4	1264	c.731A>T	c.(730-732)cAg>cTg	p.Q244L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	244	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAGCAGGAGCAGCAGGGCACT	0.642																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(730-732)cAg>cTg		CD1a molecule	Antithymocyte globulin(DB00098)						108.0	98.0	101.0					1																	158226702		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226702A>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.731A>T	1.37:g.158226702A>T	ENSP00000289429:p.Gln244Leu						p.Q244L	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			4	1264	+	all_hematologic(112;0.0378)		244			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.731A>T	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.419330	0.25552	.	.	ENSG00000158477	ENST00000289429	T	0.02890	4.12	3.8	2.63	0.31362	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.184484	0.26677	N	0.023066	T	0.01189	0.0039	L	0.42008	1.315	0.23346	N	0.997865	P	0.36392	0.551	B	0.38500	0.275	T	0.46596	-0.9180	10	0.59425	D	0.04	-4.6564	6.421	0.21744	0.7823:0.0:0.0:0.2177	.	244	P06126	CD1A_HUMAN	L	244	ENSP00000289429:Q244L	ENSP00000289429:Q244L	Q	+	2	0	CD1A	156493326	0.233000	0.23772	0.556000	0.28293	0.442000	0.32017	0.571000	0.23669	0.614000	0.30107	0.397000	0.26171	CAG		0.642	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		32	83	0	0	0	1	0	32	83				
PCDHB2	56133	broad.mit.edu	37	5	140475050	140475050	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:140475050G>T	ENST00000194155.4	+	1	824	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAGGTCCGGCACGGCCCT	0.582																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(676-678)Ggc>Tgc									42.0	45.0	44.0					5																	140475050		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475050G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.676G>T	5.37:g.140475050G>T	ENSP00000194155:p.Gly226Cys						p.G226C	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	824	+			226			Cadherin 2.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.676G>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944327	0.53079	.	.	ENSG00000112852	ENST00000194155	T	0.54866	0.55	5.42	3.65	0.41850	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77818	0.4187	M	0.93854	3.465	0.42258	D	0.992	D	0.89917	1.0	D	0.97110	1.0	T	0.82604	-0.0375	9	0.87932	D	0	.	12.2982	0.54860	0.1401:0.0:0.8599:0.0	.	226	Q9Y5E7	PCDB2_HUMAN	C	226	ENSP00000194155:G226C	ENSP00000194155:G226C	G	+	1	0	PCDHB2	140455234	1.000000	0.71417	0.952000	0.39060	0.517000	0.34286	6.745000	0.74860	0.782000	0.33613	-0.122000	0.15005	GGC		0.582	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		11	27	1	0	4.68919e-08	1	5.02632e-08	11	27				
NRDE2	55051	broad.mit.edu	37	14	90767686	90767686	+	Missense_Mutation	SNP	C	C	T	rs150270537		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:90767686C>T	ENST00000354366.3	-	7	1674	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	NRDE2_ENST00000357904.3_Missense_Mutation_p.R250Q	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	481																	GCCAGCCTGCCGCAGAAAGTG	0.517																																						ENST00000354366.3																			0											c.(1441-1443)cGg>cAg		NRDE-2, necessary for RNA interference, domain containing		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	53.0	55.0		1442,749	5.5	1.0	14	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	C14orf102	NM_017970.3,NM_199043.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	481/1165,250/934	90767686	1,13005	2203	4300	6503	SO:0001583	missense	55051							g.chr14:90767686C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1442G>A	14.37:g.90767686C>T	ENSP00000346335:p.Arg481Gln					NRDE2_ENST00000357904.3_Missense_Mutation_p.R250Q	p.R481Q	NM_017970.3	NP_060440.2					7	1674	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1442G>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827540	0.71143	2.27E-4	0.0	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.32515	1.45;1.45	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);Domain of unknown function DUF1740 (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.60188	-0.7312	10	0.48119	T	0.1	-33.725	19.7622	0.96325	0.0:1.0:0.0:0.0	.	481	Q9H7Z3	CN102_HUMAN	Q	481;250;60	ENSP00000346335:R481Q;ENSP00000350579:R250Q	ENSP00000346335:R481Q	R	-	2	0	C14orf102	89837439	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.746000	0.68681	2.732000	0.93576	0.650000	0.86243	CGG		0.517	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		21	31	0	0	0	1	0	21	31				
OLFML2A	169611	broad.mit.edu	37	9	127557384	127557384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:127557384G>A	ENST00000373580.3	+	3	436	c.436G>A	c.(436-438)Gcc>Acc	p.A146T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	146					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACAAGGTGGCCTCCCAGAT	0.652																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(436-438)Gcc>Acc		olfactomedin-like 2A							27.0	28.0	27.0					9																	127557384		2009	4168	6177	SO:0001583	missense	169611							g.chr9:127557384G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.436G>A	9.37:g.127557384G>A	ENSP00000362682:p.Ala146Thr						p.A146T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			3	436	+			146					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.436G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377783	0.82682	.	.	ENSG00000185585	ENST00000373580	T	0.44881	0.91	4.96	4.96	0.65561	.	0.216008	0.40144	N	0.001172	T	0.37972	0.1023	L	0.43923	1.385	0.80722	D	1	P	0.44627	0.839	B	0.39379	0.298	T	0.23013	-1.0200	10	0.39692	T	0.17	.	17.6345	0.88118	0.0:0.0:1.0:0.0	.	146	Q68BL7	OLM2A_HUMAN	T	146	ENSP00000362682:A146T	ENSP00000362682:A146T	A	+	1	0	OLFML2A	126597205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.427000	0.80284	2.669000	0.90835	0.563000	0.77884	GCC		0.652	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		8	15	0	0	0	1	0	8	15				
PCED1B	91523	broad.mit.edu	37	12	47629946	47629946	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:47629946T>C	ENST00000546455.1	+	4	1831	c.1100T>C	c.(1099-1101)tTc>tCc	p.F367S	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.F367S			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	367	Pro-rich.						hydrolase activity (GO:0016787)										CATGCAGGTTTCTTCGTCGAA	0.522																																						ENST00000546455.1																			0											c.(1099-1101)tTc>tCc		PC-esterase domain containing 1B							159.0	156.0	157.0					12																	47629946		2203	4300	6503	SO:0001583	missense	91523							g.chr12:47629946T>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1100T>C	12.37:g.47629946T>C	ENSP00000446688:p.Phe367Ser					PCED1B_ENST00000432328.1_Missense_Mutation_p.F367S	p.F367S							4	1831	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1100T>C	CCDS8752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.15|14.15	2.449154|2.449154	0.43531|0.43531	.|.	.|.	ENSG00000179715|ENSG00000179715	ENST00000546455;ENST00000432328|ENST00000330951	T;T|.	0.32023|.	1.47;1.47|.	3.93|3.93	2.74|2.74	0.32292|0.32292	.|.	0.976907|.	0.08293|.	N|.	0.968200|.	T|T	0.28699|0.28699	0.0711|0.0711	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	D|.	0.64830|.	0.994|.	P|.	0.59889|.	0.865|.	T|T	0.21930|0.21930	-1.0231|-1.0231	10|6	0.22109|0.72032	T|D	0.4|0.01	-4.4189|-4.4189	6.3902|6.3902	0.21583|0.21583	0.2291:0.0:0.0:0.7709|0.2291:0.0:0.0:0.7709	.|.	367|.	Q96HM7|.	F113B_HUMAN|.	S|P	367|211	ENSP00000446688:F367S;ENSP00000396040:F367S|.	ENSP00000396040:F367S|ENSP00000328560:S211P	F|S	+|+	2|1	0|0	FAM113B|FAM113B	45916213|45916213	0.065000|0.065000	0.20965|0.20965	0.006000|0.006000	0.13384|0.13384	0.003000|0.003000	0.03518|0.03518	1.639000|1.639000	0.37176|0.37176	0.822000|0.822000	0.34565|0.34565	0.533000|0.533000	0.62120|0.62120	TTC|TCT		0.522	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		58	168	0	0	0	1	0	58	168				
ZNF83	55769	broad.mit.edu	37	19	53117347	53117347	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:53117347G>A	ENST00000597597.1	-	2	2724	c.471C>T	c.(469-471)gtC>gtT	p.V157V	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.V157V			P51522	ZNF83_HUMAN	zinc finger protein 83	157					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TATTATGGAAGACCTTGCCAC	0.353																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(469-471)gtC>gtT		zinc finger protein 83							65.0	64.0	65.0					19																	53117347		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117347G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.471C>T	19.37:g.53117347G>A						ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.V157V|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V	p.V157V			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2724	-			157					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.471C>T	CCDS12854.1																																																																																				0.353	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		28	24	0	0	0	1	0	28	24				
CDH8	1006	broad.mit.edu	37	16	61859022	61859022	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:61859022A>T	ENST00000577390.1	-	5	1683	c.729T>A	c.(727-729)gtT>gtA	p.V243V	CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000299345.6_Silent_p.V243V|CDH8_ENST00000577730.1_Silent_p.V243V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGCTTGGATAACAACCAGGT	0.458																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(727-729)gtT>gtA		cadherin 8, type 2							132.0	116.0	122.0					16																	61859022		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61859022A>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.729T>A	16.37:g.61859022A>T						CDH8_ENST00000299345.6_Silent_p.V243V|CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000577730.1_Silent_p.V243V	p.V243V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	1683	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	243			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.729T>A	CCDS10802.1																																																																																				0.458	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		31	84	0	0	0	1	0	31	84				
AGL	178	broad.mit.edu	37	1	100358058	100358058	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:100358058A>G	ENST00000294724.4	+	24	3632	c.3154A>G	c.(3154-3156)Aaa>Gaa	p.K1052E	AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000361522.4_Missense_Mutation_p.K1035E|AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E|AGL_ENST00000370163.3_Missense_Mutation_p.K1052E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1052					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAGTAGGAAAATTCCCTTC	0.378																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(3154-3156)Aaa>Gaa		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							111.0	105.0	107.0					1																	100358058		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100358058A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3154A>G	1.37:g.100358058A>G	ENSP00000294724:p.Lys1052Glu					AGL_ENST00000370163.3_Missense_Mutation_p.K1052E|AGL_ENST00000361522.4_Missense_Mutation_p.K1035E|AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E|AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E	p.K1052E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	24	3632	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1052					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3154A>G	CCDS759.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035744	0.54896	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.2	5.2	0.72013	.	0.239362	0.42682	D	0.000678	T	0.65964	0.2742	M	0.75264	2.295	0.43149	D	0.994912	B;B;B	0.22683	0.073;0.073;0.027	B;B;B	0.27715	0.049;0.049;0.082	T	0.67369	-0.5688	10	0.38643	T	0.18	.	15.3636	0.74503	1.0:0.0:0.0:0.0	.	1035;1036;1052	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	E	1052;1052;1052;1052;1036;1036;1035	ENSP00000355106:K1052E;ENSP00000359184:K1052E;ENSP00000359182:K1052E;ENSP00000294724:K1052E;ENSP00000354971:K1036E;ENSP00000359180:K1036E;ENSP00000354635:K1035E	ENSP00000294724:K1052E	K	+	1	0	AGL	100130646	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	6.350000	0.73017	2.065000	0.61736	0.467000	0.42956	AAA		0.378	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		55	54	0	0	0	1	0	55	54				
LINGO4	339398	broad.mit.edu	37	1	151774779	151774779	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:151774779C>T	ENST00000368820.3	-	2	1339	c.402G>A	c.(400-402)ctG>ctA	p.L134L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	134						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGCAGGGTCAGAGCAGAGA	0.597																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(400-402)ctG>ctA		leucine rich repeat and Ig domain containing 4							76.0	81.0	79.0					1																	151774779		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774779C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.402G>A	1.37:g.151774779C>T							p.L134L	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1339	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		134						Silent	SNP	ENST00000368820.3	37	c.402G>A	CCDS30855.1																																																																																				0.597	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		82	89	0	0	0	1	0	82	89				
ENTPD8	377841	broad.mit.edu	37	9	140327704	140327704	+	IGR	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:140327704G>T	ENST00000472938.1	-	0	1749				NOXA1_ENST00000341349.2_Missense_Mutation_p.A300S|NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGAGGACCCCGCGGGTGCTGG	0.652																																						ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(898-900)Gcg>Tcg		NADPH oxidase activator 1							9.0	11.0	11.0					9																	140327704		2167	4281	6448	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140327704G>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327704G>T						NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S	p.A300S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	10	1078	+	all_cancers(76;0.0926)		300		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).			A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.898G>T	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.303645	0.01353	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.85411	-1.9;-1.98	2.74	-3.51	0.04696	.	2.026620	0.02427	N	0.083129	T	0.68183	0.2973	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15473	0.008;0.013;0.002	B;B;B	0.17722	0.013;0.019;0.015	T	0.60954	-0.7160	10	0.07030	T	0.85	.	4.8455	0.13512	0.0:0.3418:0.2428:0.4154	.	244;300;300	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	S	300;244	ENSP00000342848:A300S;ENSP00000376562:A244S	ENSP00000342848:A300S	A	+	1	0	NOXA1	139447525	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.750000	0.00376	-0.443000	0.07180	0.561000	0.74099	GCG		0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		4	13	1	0	0.00024832	1	0.000256129	4	13				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	82	0	0	0	1	0	5	82				
TIAM2	26230	broad.mit.edu	37	6	155451295	155451295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:155451295C>T	ENST00000461783.3	+	6	2211	c.938C>T	c.(937-939)cCc>cTc	p.P313L	TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	313					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCTCTCCCCCTCAGGTATC	0.557																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(937-939)cCc>cTc		T-cell lymphoma invasion and metastasis 2							67.0	62.0	63.0					6																	155451295		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451295C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.938C>T	6.37:g.155451295C>T	ENSP00000437188:p.Pro313Leu					TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L	p.P313L			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2211	+		Ovarian(120;0.196)	313					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.938C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694519	0.48202	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05925	3.47;3.37;3.43;3.47;3.47;3.43	4.85	4.85	0.62838	.	0.060879	0.64402	D	0.000002	T	0.11965	0.0291	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	P	0.56163	0.793	T	0.00975	-1.1494	10	0.59425	D	0.04	.	16.5388	0.84380	0.0:1.0:0.0:0.0	.	313	Q8IVF5	TIAM2_HUMAN	L	313;559;313;313;313;313;313	ENSP00000437188:P313L;ENSP00000434901:P313L;ENSP00000407746:P313L;ENSP00000327315:P313L;ENSP00000353528:P313L;ENSP00000433348:P313L	ENSP00000327315:P313L	P	+	2	0	TIAM2	155492987	0.296000	0.24398	0.008000	0.14137	0.006000	0.05464	5.003000	0.63959	2.401000	0.81631	0.655000	0.94253	CCC		0.557	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		24	41	0	0	0	1	0	24	41				
RPL23AP53	644128	broad.mit.edu	37	8	163387	163387	+	RNA	SNP	C	C	T	rs3008286	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:163387C>T	ENST00000606975.1	-	0	534									ribosomal protein L23a pseudogene 53																		CACAGCCTGTCTGATCTGGTG	0.468													.|||	3332	0.665335	0.4697	0.7392	5008	,	,		14743	0.8006		0.6909	False		,,,				2504	0.7117					ENST00000606975.1																			0																																																			644128							g.chr8:163387C>T			8p23.3	2014-06-17			ENSG00000223508	ENSG00000223508			35921	pseudogene	pseudogene						19123937	Standard	NR_003572		Approved		uc010lrb.4				8.37:g.163387C>T														0	534	-									RNA	SNP	ENST00000606975.1	37																																																																																						0.468	RPL23AP53-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470409.1	NR_003572		4	23	0	0	0	1	0	4	23				
MRPS2	51116	broad.mit.edu	37	9	138395504	138395504	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:138395504A>T	ENST00000371785.1	+	5	625	c.416A>T	c.(415-417)aAg>aTg	p.K139M	MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	139					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GCCTACCGCAAGGGCATCATC	0.577																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(415-417)aAg>aTg		mitochondrial ribosomal protein S2							107.0	81.0	90.0					9																	138395504		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395504A>T	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.416A>T	9.37:g.138395504A>T	ENSP00000360850:p.Lys139Met					MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR	p.K139M			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	625	+			139					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.416A>T	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138863	0.56936	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.33216	1.42;1.42;1.42	3.8	1.41	0.22369	Ribosomal protein S2, flavodoxin-like domain (1);	0.308466	0.35677	N	0.003056	T	0.53094	0.1775	M	0.87971	2.92	0.33057	D	0.533574	D;D	0.76494	0.999;0.998	D;D	0.68192	0.956;0.939	T	0.63202	-0.6690	10	0.72032	D	0.01	-17.2148	7.5765	0.27939	0.7195:0.0:0.2805:0.0	.	153;139	Q5T8A0;Q9Y399	.;RT02_HUMAN	M	139;139;153	ENSP00000360850:K139M;ENSP00000241600:K139M;ENSP00000400082:K153M	ENSP00000241600:K139M	K	+	2	0	MRPS2	137535325	0.983000	0.35010	0.982000	0.44146	0.969000	0.65631	1.875000	0.39578	0.112000	0.17975	0.467000	0.42956	AAG		0.577	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			26	60	0	0	0	1	0	26	60				
TBC1D3P5	440419	broad.mit.edu	37	17	25749187	25749187	+	RNA	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:25749187G>A	ENST00000586223.1	+	0	1088					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GAGTGTATAAGGGCATTCCCA	0.498																																						ENST00000586223.1																			0																																																			440419							g.chr17:25749187G>A			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25749187G>A								NR_033892.1						0	1088	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.498	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		7	25	0	0	0	1	0	7	25				
KIAA0368	23392	broad.mit.edu	37	9	114173351	114173351	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:114173351T>G	ENST00000338205.5	-	21	2505	c.2286A>C	c.(2284-2286)aaA>aaC	p.K762N	KIAA0368_ENST00000259335.4_Missense_Mutation_p.K940N|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000374378.3_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	768					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATTCTCATTTTCTTTTTAG	0.418																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2818-2820)aaA>aaC		KIAA0368							270.0	255.0	260.0					9																	114173351		1921	4132	6053	SO:0001583	missense	23392							g.chr9:114173351T>G	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2286A>C	9.37:g.114173351T>G	ENSP00000339889:p.Lys762Asn					KIAA0368_ENST00000338205.5_Missense_Mutation_p.K762N	p.K940N	NM_001080398.1	NP_001073867.1					23	2819	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.2820A>C		.	.	.	.	.	.	.	.	.	.	T	14.94	2.683974	0.47991	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66099	-0.19	5.21	2.64	0.31445	.	0.122259	0.53938	D	0.000047	T	0.52058	0.1711	L	0.51422	1.61	0.80722	D	1	B	0.19200	0.034	B	0.18561	0.022	T	0.44267	-0.9339	10	0.52906	T	0.07	.	7.4152	0.27040	0.0:0.2848:0.0:0.7152	.	237	B3KXF2	.	N	762;940;237	ENSP00000259335:K940N	ENSP00000259335:K940N	K	-	3	2	KIAA0368	113213172	0.983000	0.35010	0.970000	0.41538	0.900000	0.52787	1.660000	0.37397	0.218000	0.20820	0.402000	0.26972	AAA		0.418	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		199	180	0	0	0	1	0	199	180				
EVPL	2125	broad.mit.edu	37	17	74019475	74019475	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:74019475C>T	ENST00000301607.3	-	4	631	c.378G>A	c.(376-378)gtG>gtA	p.V126V	EVPL_ENST00000586740.1_Silent_p.V126V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	126	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ACTCCTGGGTCACCCGCTCGT	0.672																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(376-378)gtG>gtA		envoplakin							73.0	76.0	75.0					17																	74019475		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74019475C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.378G>A	17.37:g.74019475C>T						EVPL_ENST00000586740.1_Silent_p.V126V	p.V126V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			4	631	-			126			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.378G>A	CCDS11737.1																																																																																				0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		38	54	0	0	0	1	0	38	54				
PAPPA	5069	broad.mit.edu	37	9	119065052	119065052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:119065052C>A	ENST00000328252.3	+	10	3339	c.2970C>A	c.(2968-2970)tgC>tgA	p.C990*	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	990					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGCCGGTGCTATTTCCATG	0.458																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2968-2970)tgC>tgA		pregnancy-associated plasma protein A, pappalysin 1							87.0	79.0	82.0					9																	119065052		2203	4300	6503	SO:0001587	stop_gained	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065052C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2970C>A	9.37:g.119065052C>A	ENSP00000330658:p.Cys990*					RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28*	p.C990*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			10	3339	+			990					B1AMF9|Q08371|Q68G52|Q9UDK7	Nonsense_Mutation	SNP	ENST00000328252.3	37	c.2970C>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	45	11.459164	0.99564	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	.	.	.	6.06	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1656	12.1633	0.54115	0.0:0.8103:0.0:0.1897	.	.	.	.	X	990;434;28	.	ENSP00000330658:C990X	C	+	3	2	PAPPA	118104873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.296000	0.33389	1.563000	0.49615	0.650000	0.86243	TGC		0.458	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		21	59	1	0	2.70639e-06	1	2.86354e-06	21	59				
KCNJ2	3759	broad.mit.edu	37	17	68171810	68171810	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:68171810G>A	ENST00000243457.3	+	2	1013	c.630G>A	c.(628-630)ttG>ttA	p.L210L	KCNJ2_ENST00000535240.1_Silent_p.L210L	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	210					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGCTGTGTTTGATGTGGCGAG	0.498																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(628-630)ttG>ttA		potassium inwardly-rectifying channel, subfamily J, member 2							118.0	100.0	106.0					17																	68171810		2203	4300	6503	SO:0001819	synonymous_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171810G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.630G>A	17.37:g.68171810G>A						KCNJ2_ENST00000535240.1_Silent_p.L210L	p.L210L	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	1013	+	Breast(10;1.64e-08)		210					O15110|P48049	Silent	SNP	ENST00000243457.3	37	c.630G>A	CCDS11688.1																																																																																				0.498	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		29	62	0	0	0	1	0	29	62				
RREB1	6239	broad.mit.edu	37	6	7231221	7231221	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:7231221G>A	ENST00000349384.6	+	10	3203	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	RREB1_ENST00000379933.3_Silent_p.A963A|RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000379938.2_Silent_p.A963A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	963					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGAGGAGGCGGGGAGCAGCG	0.632																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2887-2889)gcG>gcA		ras responsive element binding protein 1							27.0	29.0	28.0					6																	7231221		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231221G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2889G>A	6.37:g.7231221G>A						RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000379933.3_Silent_p.A963A|RREB1_ENST00000349384.6_Silent_p.A963A	p.A963A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	3426	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	963					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.2889G>A	CCDS34336.1																																																																																				0.632	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			12	4	0	0	0	1	0	12	4				
FAF2	23197	broad.mit.edu	37	5	175913467	175913467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:175913467G>A	ENST00000261942.6	+	3	297	c.244G>A	c.(244-246)Gtt>Att	p.V82I	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	82					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTACAGCTATGTTGTCTCAAG	0.443																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(244-246)Gtt>Att		Fas associated factor family member 2							136.0	115.0	122.0					5																	175913467		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175913467G>A	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.244G>A	5.37:g.175913467G>A	ENSP00000261942:p.Val82Ile					FAF2_ENST00000510446.1_3'UTR	p.V82I	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			3	297	+			82					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.244G>A	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534182	0.64972	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	0.105089	0.64402	D	0.000005	T	0.52354	0.1729	L	0.27053	0.805	0.50632	D	0.99988	B	0.09022	0.002	B	0.06405	0.002	T	0.42310	-0.9459	8	.	.	.	-17.7321	20.6243	0.99512	0.0:0.0:1.0:0.0	.	82	Q96CS3	FAF2_HUMAN	I	82	.	.	V	+	1	0	FAF2	175846073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.244000	0.78228	2.879000	0.98667	0.650000	0.86243	GTT		0.443	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		37	53	0	0	0	1	0	37	53				
CDH3	1001	broad.mit.edu	37	16	68729736	68729736	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:68729736C>T	ENST00000264012.4	+	15	2734	c.2190C>T	c.(2188-2190)ctC>ctT	p.L730L	CDH3_ENST00000581171.1_Silent_p.L675L|CDH3_ENST00000429102.2_Silent_p.L730L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	730					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGGTGGTTCTCCGCAATGACG	0.582																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(2188-2190)ctC>ctT		cadherin 3, type 1, P-cadherin (placental)							115.0	85.0	95.0					16																	68729736		2198	4300	6498	SO:0001819	synonymous_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68729736C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2190C>T	16.37:g.68729736C>T						CDH3_ENST00000581171.1_Silent_p.L675L|CDH3_ENST00000429102.2_Silent_p.L730L	p.L730L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	15	2734	+		Ovarian(137;0.0564)	730					B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.2190C>T	CCDS10868.1																																																																																				0.582	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		48	56	0	0	0	1	0	48	56				
CHST14	113189	broad.mit.edu	37	15	40763950	40763950	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:40763950C>A	ENST00000306243.5	+	1	791	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	CHST14_ENST00000559991.1_Missense_Mutation_p.L155I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	180					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGACGTCCGCCTCAAGATGGA	0.602																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(538-540)Ctc>Atc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							59.0	50.0	53.0					15																	40763950		2203	4300	6503	SO:0001583	missense	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40763950C>A	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.538C>A	15.37:g.40763950C>A	ENSP00000307297:p.Leu180Ile					CHST14_ENST00000559991.1_Missense_Mutation_p.L155I	p.L180I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	791	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	180					Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	c.538C>A	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982277	0.34942	.	.	ENSG00000169105	ENST00000306243	T	0.73897	-0.79	4.98	4.98	0.66077	.	0.079856	0.50627	D	0.000117	T	0.46776	0.1410	N	0.01003	-1.06	0.38550	D	0.949437	B	0.16396	0.017	B	0.11329	0.006	T	0.49890	-0.8891	10	0.24483	T	0.36	-11.7675	15.7994	0.78439	0.0:1.0:0.0:0.0	.	180	Q8NCH0	CHSTE_HUMAN	I	180	ENSP00000307297:L180I	ENSP00000307297:L180I	L	+	1	0	CHST14	38551242	0.145000	0.22656	1.000000	0.80357	0.998000	0.95712	0.944000	0.29043	2.605000	0.88082	0.655000	0.94253	CTC		0.602	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		26	42	1	0	4.59853e-10	1	4.99443e-10	26	42				
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:14316390T>A	ENST00000256196.4	-	3	528	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000545643.1_Missense_Mutation_p.Q78L|RRAS2_ENST00000532814.1_5'UTR			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72			Q -> L (in an ovarian cancer sample; somatic mutation). {ECO:0000269|PubMed:8052619}.		osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393																																						ENST00000545643.1																			2	Substitution - Missense(2)	p.Q72L(2)	lung(1)|endometrium(1)	breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(232-234)cAa>cTa		related RAS viral (r-ras) oncogene homolog 2							116.0	118.0	117.0					11																	14316390		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316390T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.215A>T	11.37:g.14316390T>A	ENSP00000256196:p.Gln72Leu					RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000414023.2_5'UTR	p.Q78L	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	546	-			72					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.233A>T	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861739	0.91433	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.97365	3.99	0.80722	D	1	D;P	0.67145	0.996;0.946	D;P	0.63033	0.91;0.473	D	0.95850	0.8874	10	0.87932	D	0	.	15.3905	0.74739	0.0:0.0:0.0:1.0	.	78;72	B7Z5Z2;P62070	.;RRAS2_HUMAN	L	37;78;72;53	ENSP00000437547:Q37L;ENSP00000441722:Q78L;ENSP00000256196:Q72L;ENSP00000435453:Q53L	ENSP00000256196:Q72L	Q	-	2	0	RRAS2	14272966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.702000	0.84576	2.127000	0.65507	0.402000	0.26972	CAA		0.393	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		37	38	0	0	0	1	0	37	38				
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	rs201835225	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15988	0.0		0.001	False		,,,				2504	0.001				Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			1	Substitution - Missense(1)	p.R569W(1)	prostate(1)	NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1705-1707)Cgg>Tgg		solute carrier family 5 (sodium/iodide cotransporter), member 5		C	TRP/ARG	0,4406		0,0,2203	116.0	112.0	113.0		1705	1.2	0.0	19		113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A5	NM_000453.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	569/644	18001748	1,13005	2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001748C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1705C>T	19.37:g.18001748C>T	ENSP00000222248:p.Arg569Trp						p.R569W	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			14	2052	+			569					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1705C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066877	0.36470	0.0	1.16E-4	ENSG00000105641	ENST00000222248	D	0.87029	-2.2	4.71	1.18	0.20946	.	22.923100	0.00166	N	0.000010	D	0.85026	0.5603	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.42653	0.394	T	0.70561	-0.4838	10	0.54805	T	0.06	.	5.1415	0.14961	0.5241:0.3652:0.0:0.1107	.	569	Q92911	SC5A5_HUMAN	W	569	ENSP00000222248:R569W	ENSP00000222248:R569W	R	+	1	2	SLC5A5	17862748	0.002000	0.14202	0.002000	0.10522	0.663000	0.39108	0.255000	0.18333	0.148000	0.19059	0.491000	0.48974	CGG		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			44	92	0	0	0	1	0	44	92				
RNF24	11237	broad.mit.edu	37	20	3914726	3914726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr20:3914726G>A	ENST00000336095.6	-	6	682	c.431C>T	c.(430-432)gCa>gTa	p.A144V	RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.2_Missense_Mutation_p.A165V	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	144						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						AATGTTCTCTGCCCCAGGAAG	0.562																																						ENST00000336095.5																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(430-432)gCa>gTa		ring finger protein 24							83.0	81.0	82.0					20																	3914726		2203	4300	6503	SO:0001583	missense	11237					Golgi membrane|integral to membrane	zinc ion binding	g.chr20:3914726G>A	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.431C>T	20.37:g.3914726G>A	ENSP00000336753:p.Ala144Val					RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.1_Missense_Mutation_p.A165V	p.A144V	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN			6	682	-			144					D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	c.431C>T	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789592	0.31685	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.24723	1.87;1.87;1.84;1.84	5.57	5.57	0.84162	.	0.306242	0.34828	N	0.003644	T	0.20373	0.0490	N	0.24115	0.695	0.41888	D	0.990354	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.02705	-1.1121	10	0.37606	T	0.19	-8.9734	17.019	0.86428	0.0:0.0:1.0:0.0	.	165;144	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	V	144;144;165;165	ENSP00000336753:A144V;ENSP00000351166:A144V;ENSP00000444711:A165V;ENSP00000388550:A165V	ENSP00000336753:A144V	A	-	2	0	RNF24	3862726	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.460000	0.66691	2.605000	0.88082	0.591000	0.81541	GCA		0.562	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2			55	88	0	0	0	1	0	55	88				
SKIL	6498	broad.mit.edu	37	3	170102443	170102443	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:170102443A>G	ENST00000458537.3	+	3	2028	c.1319A>G	c.(1318-1320)aAg>aGg	p.K440R	SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000259119.4_Missense_Mutation_p.K440R|SKIL_ENST00000413427.2_Intron	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	440					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGTCAGAGAAGGCTCACAGT	0.398																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(1318-1320)aAg>aGg		SKI-like oncogene							153.0	146.0	148.0					3																	170102443		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170102443A>G	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1319A>G	3.37:g.170102443A>G	ENSP00000415243:p.Lys440Arg					SKIL_ENST00000259119.4_Missense_Mutation_p.K440R|SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000413427.2_Intron	p.K440R	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	2028	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		440					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.1319A>G	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420056	0.42918	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000458537	D;D;D	0.91843	-2.92;-2.91;-2.92	5.84	4.65	0.58169	.	0.434976	0.28414	N	0.015424	D	0.91171	0.7219	L	0.53249	1.67	0.38195	D	0.940022	D	0.60575	0.988	P	0.50049	0.629	D	0.89195	0.3553	10	0.18276	T	0.48	-15.9959	13.3411	0.60545	0.8683:0.1317:0.0:0.0	.	440	P12757	SKIL_HUMAN	R	440;420;440	ENSP00000259119:K440R;ENSP00000406520:K420R;ENSP00000415243:K440R	ENSP00000259119:K440R	K	+	2	0	SKIL	171585137	0.997000	0.39634	0.988000	0.46212	0.702000	0.40608	3.620000	0.54203	1.107000	0.41642	0.528000	0.53228	AAG		0.398	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		52	426	0	0	0	1	0	52	426				
COL14A1	7373	broad.mit.edu	37	8	121228628	121228628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:121228628G>A	ENST00000297848.3	+	14	1906	c.1636G>A	c.(1636-1638)Gtt>Att	p.V546I	COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCTCCAATGTTGGCTCTAA	0.353																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1636-1638)Gtt>Att		collagen, type XIV, alpha 1							113.0	104.0	107.0					8																	121228628		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121228628G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1636G>A	8.37:g.121228628G>A	ENSP00000297848:p.Val546Ile					COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I	p.V546I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		14	1906	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		546			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1636G>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.638253|1.638253	0.29157|0.29157	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.29|5.29	-2.27|-2.27	0.06846|0.06846	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.595348	.|0.17949	.|N	.|0.156594	T|T	0.35189|0.35189	0.0923|0.0923	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12013	.|0.005;0.002	.|B;B	.|0.18263	.|0.021;0.017	T|T	0.08680|0.08680	-1.0710|-1.0710	5|10	.|0.22109	.|T	.|0.4	.|.	13.1445|13.1445	0.59452|0.59452	0.4941:0.0:0.5059:0.0|0.4941:0.0:0.5059:0.0	.|.	.|546;546	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	Y|I	302|546;546;451;359	.|ENSP00000311809:V546I;ENSP00000297848:V546I;ENSP00000247781:V451I;ENSP00000409461:V359I	.|ENSP00000247781:V451I	C|V	+|+	2|1	0|0	COL14A1|COL14A1	121297809|121297809	0.032000|0.032000	0.19561|0.19561	0.442000|0.442000	0.26870|0.26870	0.839000|0.839000	0.47603|0.47603	-0.042000|-0.042000	0.12063|0.12063	-1.082000|-1.082000	0.03101|0.03101	-0.797000|-0.797000	0.03246|0.03246	TGT|GTT		0.353	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		57	80	0	0	0	1	0	57	80				
FOXP4	116113	broad.mit.edu	37	6	41557787	41557787	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:41557787G>A	ENST00000307972.4	+	10	1248	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	FOXP4_ENST00000373057.3_Silent_p.P410P|FOXP4_ENST00000373063.3_Silent_p.P399P|FOXP4_ENST00000373060.1_Silent_p.P412P|FOXP4_ENST00000409208.1_Silent_p.P400P			Q8IVH2	FOXP4_HUMAN	forkhead box P4	412					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCACCCCCCGACCTCGGCCG	0.672																																						ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1234-1236)ccG>ccA		forkhead box P4							35.0	38.0	37.0					6																	41557787		2203	4300	6503	SO:0001819	synonymous_variant	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41557787G>A	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1236G>A	6.37:g.41557787G>A						FOXP4_ENST00000307972.4_Silent_p.P412P|FOXP4_ENST00000373057.3_Silent_p.P410P|FOXP4_ENST00000373063.3_Silent_p.P399P|FOXP4_ENST00000409208.1_Silent_p.P400P	p.P412P	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			11	1694	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		412					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Silent	SNP	ENST00000307972.4	37	c.1236G>A	CCDS34447.1																																																																																				0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		4	48	0	0	0	1	0	4	48				
RASA3	22821	broad.mit.edu	37	13	114758033	114758033	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr13:114758033C>G	ENST00000334062.7	-	22	2294	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	RASA3_ENST00000389544.4_Missense_Mutation_p.D693H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	725					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CGGTCCCCATCAATGTCCAGC	0.483																																						ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2173-2175)Gat>Cat		RAS p21 protein activator 3							103.0	77.0	85.0					13																	114758033		2202	4299	6501	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114758033C>G		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2173G>C	13.37:g.114758033C>G	ENSP00000335029:p.Asp725His					RASA3_ENST00000389544.4_Missense_Mutation_p.D693H	p.D725H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		22	2294	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	725					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.2173G>C	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450054	0.63290	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.92048	-2.86;-2.96	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95588	0.8652	9	.	.	.	.	18.4236	0.90600	0.0:1.0:0.0:0.0	.	725	Q14644	RASA3_HUMAN	H	725;693	ENSP00000335029:D725H;ENSP00000374195:D693H	.	D	-	1	0	RASA3	113776135	1.000000	0.71417	0.093000	0.20910	0.377000	0.30045	6.879000	0.75572	2.353000	0.79882	0.655000	0.94253	GAT		0.483	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		17	29	0	0	0	1	0	17	29				
APLF	200558	broad.mit.edu	37	2	68772422	68772422	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:68772422C>G	ENST00000303795.4	+	8	1435	c.1264C>G	c.(1264-1266)Ccc>Gcc	p.P422A	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	422					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GCCTGAATGTCCCTATGGACC	0.423																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(1264-1266)Ccc>Gcc		aprataxin and PNKP like factor							159.0	150.0	153.0					2																	68772422		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68772422C>G	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1264C>G	2.37:g.68772422C>G	ENSP00000307004:p.Pro422Ala					APLF_ENST00000471727.1_3'UTR	p.P422A	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			8	1435	+			422					A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.1264C>G	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.356044	0.82243	.	.	ENSG00000169621	ENST00000303795	T	0.30714	1.52	5.41	5.41	0.78517	Zinc finger, C2H2, APLF-like (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.79011	2.435	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.62964	-0.6742	10	0.72032	D	0.01	.	17.9645	0.89096	0.0:1.0:0.0:0.0	.	422	Q8IW19	APLF_HUMAN	A	422	ENSP00000307004:P422A	ENSP00000307004:P422A	P	+	1	0	APLF	68625926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.334000	0.65923	2.533000	0.85409	0.555000	0.69702	CCC		0.423	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		38	95	0	0	0	1	0	38	95				
TKTL2	84076	broad.mit.edu	37	4	164393621	164393621	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:164393621C>G	ENST00000280605.3	-	1	1426	c.1266G>C	c.(1264-1266)ggG>ggC	p.G422G		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	422						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGTGGATACCCCACAGTGGG	0.478																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1264-1266)ggG>ggC		transketolase-like 2							47.0	49.0	48.0					4																	164393621		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393621C>G	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1266G>C	4.37:g.164393621C>G							p.G422G	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	1426	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	422					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.1266G>C	CCDS3805.1																																																																																				0.478	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		36	21	0	0	0	1	0	36	21				
KMT2D	8085	broad.mit.edu	37	12	49420628	49420628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:49420628C>T	ENST00000301067.7	-	48	15120	c.15121G>A	c.(15121-15123)Ggg>Agg	p.G5041R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5041					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCAGTGGCCCCGTCACCCTCC	0.607																																						ENST00000301067.7																			0											c.(15121-15123)Ggg>Agg		lysine (K)-specific methyltransferase 2D							63.0	69.0	67.0					12																	49420628		2143	4228	6371	SO:0001583	missense	8085							g.chr12:49420628C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15121G>A	12.37:g.49420628C>T	ENSP00000301067:p.Gly5041Arg						p.G5041R	NM_003482.3	NP_003473.3					48	15120	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15121G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662709	0.47572	.	.	ENSG00000167548	ENST00000301067	T	0.81163	-1.46	4.86	4.86	0.63082	.	0.000000	0.39210	N	0.001425	D	0.90321	0.6972	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91862	0.5500	10	0.87932	D	0	.	17.1536	0.86784	0.0:1.0:0.0:0.0	.	5041	O14686	MLL2_HUMAN	R	5041	ENSP00000301067:G5041R	ENSP00000301067:G5041R	G	-	1	0	MLL2	47706895	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.818000	0.86416	2.425000	0.82216	0.655000	0.94253	GGG		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			31	89	0	0	0	1	0	31	89				
DNAH5	1767	broad.mit.edu	37	5	13876803	13876803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:13876803G>T	ENST00000265104.4	-	22	3490	c.3386C>A	c.(3385-3387)tCc>tAc	p.S1129Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1129	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTTGGTGGAGTTGATAAT	0.383									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3385-3387)tCc>tAc		dynein, axonemal, heavy chain 5							124.0	126.0	125.0					5																	13876803		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13876803G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3386C>A	5.37:g.13876803G>T	ENSP00000265104:p.Ser1129Tyr					CTB-51A17.1_ENST00000503244.1_RNA	p.S1129Y	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			22	3490	-	Lung NSC(4;0.00476)		1129			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3386C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288864	0.80914	.	.	ENSG00000039139	ENST00000265104	T	0.25085	1.82	5.6	5.6	0.85130	.	0.056146	0.64402	D	0.000001	T	0.52108	0.1714	M	0.88570	2.965	0.80722	D	1	P	0.40834	0.73	P	0.49528	0.614	T	0.58188	-0.7680	10	0.72032	D	0.01	.	19.9855	0.97347	0.0:0.0:1.0:0.0	.	1129	Q8TE73	DYH5_HUMAN	Y	1129	ENSP00000265104:S1129Y	ENSP00000265104:S1129Y	S	-	2	0	DNAH5	13929803	1.000000	0.71417	0.997000	0.53966	0.821000	0.46438	9.094000	0.94168	2.806000	0.96561	0.655000	0.94253	TCC		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		38	66	1	0	1.57019e-19	1	1.78828e-19	38	66				
SIGLEC16	400709	broad.mit.edu	37	19	50475259	50475259	+	RNA	SNP	G	G	C	rs12463036	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:50475259G>C	ENST00000602139.1	+	0	1205							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						TGGGGTCCTGGAGCTGCCTCG	0.672													G|||	976	0.194888	0.1717	0.1571	5008	,	,		14776	0.3304		0.1789	False		,,,				2504	0.1299					ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50475259G>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50475259G>C														0	1205	+									RNA	SNP	ENST00000602139.1	37			482	0.2206959706959707	97	0.19715447154471544	65	0.17955801104972377	184	0.32167832167832167	136	0.17941952506596306	G	13.09	2.132987	0.37630	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-0.398	0.12418	.	0.405610	0.21602	N	0.071927	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24048	-1.0171	5	0.46703	T	0.11	.	4.0219	0.09670	0.0:0.2653:0.464:0.2708	rs12463036	.	.	.	Q	422;394	.	ENSP00000396157:E422Q	E	+	1	0	SIGLEC16	55167071	0.240000	0.23847	0.127000	0.21898	0.104000	0.19210	0.323000	0.19593	-0.015000	0.14150	0.407000	0.27541	GAG		0.672	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		2	5	0	0	0	1	0	2	5				
IGHMBP2	3508	broad.mit.edu	37	11	68696742	68696742	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:68696742C>T	ENST00000255078.3	+	8	1263	c.1152C>T	c.(1150-1152)agC>agT	p.S384S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	384	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCGAGGCGAGCTGCTGGATCC	0.622																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1150-1152)agC>agT		immunoglobulin mu binding protein 2							103.0	93.0	97.0					11																	68696742		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68696742C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1152C>T	11.37:g.68696742C>T							p.S384S	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		8	1263	+			384			Leu-rich.		A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.1152C>T	CCDS8187.1																																																																																				0.622	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		41	100	0	0	0	1	0	41	100				
TMEM133	83935	broad.mit.edu	37	11	100863058	100863058	+	Missense_Mutation	SNP	G	G	T	rs375608903		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:100863058G>T	ENST00000303130.2	+	1	248	c.19G>T	c.(19-21)Gta>Tta	p.V7L		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	7						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		ACATCACTGCGTAGGACCCGG	0.428																																						ENST00000303130.2																			0				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5						c.(19-21)Gta>Tta		transmembrane protein 133							67.0	62.0	64.0					11																	100863058		2203	4299	6502	SO:0001583	missense	83935					integral to membrane		g.chr11:100863058G>T	AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.19G>T	11.37:g.100863058G>T	ENSP00000303999:p.Val7Leu						p.V7L	NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0675)	1	248	+		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)	7						Missense_Mutation	SNP	ENST00000303130.2	37	c.19G>T	CCDS8309.1	.	.	.	.	.	.	.	.	.	.	g	3.135	-0.177622	0.06380	.	.	ENSG00000170647	ENST00000303130	.	.	.	2.99	-4.82	0.03171	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	B	0.28291	0.206	B	0.32864	0.154	T	0.35475	-0.9787	8	0.87932	D	0	.	10.486	0.44722	0.681:0.0:0.319:0.0	.	7	Q9H2Q1	TM133_HUMAN	L	7	.	ENSP00000303999:V7L	V	+	1	0	TMEM133	100368268	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.364000	0.07583	-1.340000	0.02227	-2.852000	0.00102	GTA		0.428	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		33	53	1	0	9.65021e-13	1	1.07662e-12	33	53				
PHACTR3	116154	broad.mit.edu	37	20	58349395	58349395	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr20:58349395G>C	ENST00000371015.1	+	7	1491	c.1024G>C	c.(1024-1026)Gct>Cct	p.A342P	PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	342						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAGGGAGGAGGCTTGGAGCTT	0.512																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(1024-1026)Gct>Cct		phosphatase and actin regulator 3							112.0	109.0	110.0					20																	58349395		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58349395G>C	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1024G>C	20.37:g.58349395G>C	ENSP00000360054:p.Ala342Pro					PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P	p.A342P	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		7	1491	+	all_lung(29;0.00344)		342					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.1024G>C	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412138	0.25465	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.33216	1.84;1.85;1.42;1.85;1.85;1.85;1.42	5.06	4.04	0.47022	.	0.633975	0.17272	N	0.180350	T	0.23451	0.0567	L	0.36672	1.1	0.27162	N	0.961131	P;B;B	0.47604	0.898;0.008;0.015	P;B;B	0.45071	0.468;0.004;0.011	T	0.05582	-1.0876	10	0.21540	T	0.41	-14.0234	5.8878	0.18892	0.094:0.0:0.6195:0.2865	.	231;342;339	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	P	339;342;231;301;301;301;231	ENSP00000353002:A339P;ENSP00000360054:A342P;ENSP00000379001:A231P;ENSP00000442483:A301P;ENSP00000347866:A301P;ENSP00000378998:A301P;ENSP00000354555:A231P	ENSP00000347866:A301P	A	+	1	0	PHACTR3	57782790	0.806000	0.28996	0.999000	0.59377	0.289000	0.27227	1.473000	0.35387	2.335000	0.79485	0.655000	0.94253	GCT		0.512	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		37	70	0	0	0	1	0	37	70				
MAP3K1	4214	broad.mit.edu	37	5	56167806	56167806	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:56167806A>T	ENST00000399503.3	+	7	1371	c.1371A>T	c.(1369-1371)acA>acT	p.T457T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	457					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAAGTCTTACAGTGTGTGAAG	0.428																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1369-1371)acA>acT		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							125.0	128.0	127.0					5																	56167806		1938	4147	6085	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56167806A>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1371A>T	5.37:g.56167806A>T							p.T457T	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	7	1371	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	457						Silent	SNP	ENST00000399503.3	37	c.1371A>T	CCDS43318.1																																																																																				0.428	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		34	29	0	0	0	1	0	34	29				
TCFL5	10732	broad.mit.edu	37	20	61488812	61488812	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr20:61488812C>T	ENST00000335351.3	-	4	1265	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	TCFL5_ENST00000217162.5_Silent_p.Q343Q	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	391					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGGGCCCACTCTGGGCCTGCT	0.572																																						ENST00000335351.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(1171-1173)caG>caA		transcription factor-like 5 (basic helix-loop-helix)							151.0	139.0	143.0					20																	61488812		2203	4300	6503	SO:0001819	synonymous_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488812C>T	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1173G>A	20.37:g.61488812C>T						TCFL5_ENST00000217162.5_Silent_p.Q343Q	p.Q391Q	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			4	1265	-	Breast(26;5.68e-08)		391					O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	37	c.1173G>A	CCDS13506.1																																																																																				0.572	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		137	40	0	0	0	1	0	137	40				
BCORL1	63035	broad.mit.edu	37	X	129146962	129146962	+	Missense_Mutation	SNP	C	C	T	rs141901231	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chrX:129146962C>T	ENST00000218147.7	+	4	411	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	BCORL1_ENST00000303743.5_Missense_Mutation_p.R72W|BCORL1_ENST00000540052.1_Missense_Mutation_p.R72W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R72W			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGA	0.567																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(214-216)Cgg>Tgg		BCL6 corepressor-like 1		C	TRP/ARG	1,3822		0,1,0,1629,563	65.0	66.0	66.0		214	5.3	1.0	X	dbSNP_134	66	5,6698		0,2,3,2425,1846	yes	missense	BCORL1	NM_021946.4	101	0,3,3,4054,2409	TT,TC,T,CC,C		0.0746,0.0262,0.057	probably-damaging	72/1712	129146962	6,10520	2193	4276	6469	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129146962C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.214C>T	X.37:g.129146962C>T	ENSP00000218147:p.Arg72Trp					BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Missense_Mutation_p.R72W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R72W|BCORL1_ENST00000303743.5_Missense_Mutation_p.R72W	p.R72W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	258	+			72					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.214C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206510	0.58343	2.62E-4	7.46E-4	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.48522	0.82;1.18;0.81;0.82	5.28	5.28	0.74379	.	0.000000	0.32416	N	0.006137	T	0.47284	0.1437	N	0.14661	0.345	0.38786	D	0.954881	D	0.76494	0.999	P	0.54590	0.756	T	0.58267	-0.7666	10	0.66056	D	0.02	-15.5075	18.0728	0.89415	0.0:1.0:0.0:0.0	.	72	Q5H9F3	BCORL_HUMAN	W	72	ENSP00000218147:R72W;ENSP00000307541:R72W;ENSP00000352253:R72W;ENSP00000437775:R72W	ENSP00000218147:R72W	R	+	1	2	BCORL1	128974643	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.080000	0.64437	2.203000	0.70933	0.529000	0.55759	CGG		0.567	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		6	99	0	0	0	1	0	6	99				
MKRN3	7681	broad.mit.edu	37	15	23811475	23811475	+	Silent	SNP	C	C	T	rs200863828		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:23811475C>T	ENST00000314520.3	+	1	1022	c.546C>T	c.(544-546)gcC>gcT	p.A182A	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	182					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTTTGAAGCCGAGAGAGACA	0.617																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(544-546)gcC>gcT		makorin ring finger protein 3							30.0	34.0	33.0					15																	23811475		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811475C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.546C>T	15.37:g.23811475C>T						MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.A182A	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1022	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	182						Silent	SNP	ENST00000314520.3	37	c.546C>T	CCDS10013.1																																																																																				0.617	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		23	30	0	0	0	1	0	23	30				
ALDH1L1	10840	broad.mit.edu	37	3	125856801	125856801	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:125856801A>T	ENST00000393434.2	-	10	1428	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	360	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCTCCACCAGCCTGGAGGA	0.567																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1078-1080)cTg>cAg		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						77.0	70.0	72.0					3																	125856801		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125856801A>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1079T>A	3.37:g.125856801A>T	ENSP00000377083:p.Leu360Gln					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q	p.L360Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	10	1428	-			360			Acyl carrier.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1079T>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907387	0.72868	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.4	4.4	0.53042	Acyl carrier protein-like (3);Phosphopantetheine-binding (1);	0.083564	0.49305	D	0.000155	T	0.77363	0.4119	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	T	0.81514	-0.0898	10	0.87932	D	0	.	11.9047	0.52703	1.0:0.0:0.0:0.0	.	259;412;360	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	Q	370;360;259;360;360	ENSP00000273450:L370Q;ENSP00000420293:L360Q;ENSP00000395881:L259Q;ENSP00000377083:L360Q;ENSP00000377081:L360Q	ENSP00000273450:L370Q	L	-	2	0	ALDH1L1	127339491	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	8.228000	0.89789	1.970000	0.57323	0.528000	0.53228	CTG		0.567	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		34	24	0	0	0	1	0	34	24				
SUGT1	10910	broad.mit.edu	37	13	53233376	53233376	+	Missense_Mutation	SNP	A	A	G	rs12875900		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr13:53233376A>G	ENST00000343788.6	+	5	402	c.320A>G	c.(319-321)aAa>aGa	p.K107R	SUGT1_ENST00000310528.8_Missense_Mutation_p.K107R|SUGT1_ENST00000535397.1_Missense_Mutation_p.K51R|SUGT1_ENST00000483074.1_3'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	107					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GAAGGACAAAAATTAGATAGT	0.249																																						ENST00000535397.1																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(151-153)aAa>aGa		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							15.0	17.0	17.0					13																	53233376		2136	4183	6319	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53233376A>G	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.320A>G	13.37:g.53233376A>G	ENSP00000367208:p.Lys107Arg					SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.7_Missense_Mutation_p.K107R|SUGT1_ENST00000343788.6_Missense_Mutation_p.K107R	p.K51R			Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	6	525	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	107					A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.152A>G	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	A	8.658	0.899935	0.17686	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T;T	0.75260	1.45;-0.92;1.45	3.99	3.99	0.46301	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.221627	0.46758	D	0.000263	T	0.69405	0.3107	M	0.72894	2.215	0.32657	N	0.518629	B;B;B	0.21520	0.016;0.057;0.028	B;B;B	0.22152	0.032;0.038;0.032	T	0.71083	-0.4695	10	0.34782	T	0.22	-4.9213	7.901	0.29734	0.8157:0.0:0.0:0.1843	.	51;107;107	F5H5A9;Q9Y2Z0;Q9Y2Z0-2	.;SUGT1_HUMAN;.	R	107;51;107	ENSP00000367208:K107R;ENSP00000443521:K51R;ENSP00000308067:K107R	ENSP00000308067:K107R	K	+	2	0	SUGT1	52131377	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	1.332000	0.33805	1.580000	0.49851	0.379000	0.24179	AAA		0.249	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			17	23	0	0	0	1	0	17	23				
LOC440040	440040	broad.mit.edu	37	11	49598207	49598207	+	RNA	SNP	T	T	C	rs71479502|rs3750925	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:49598207T>C	ENST00000527477.1	+	0	811																											TCCTCTTCCTTCTGCTCCAAG	0.502													T|||	2233	0.445887	0.1853	0.5922	5008	,	,		18293	0.5526		0.5517	False		,,,				2504	0.4755					ENST00000527477.1																			0																																																			440040							g.chr11:49598207T>C																													11.37:g.49598207T>C														0	811	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.502	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			3	30	0	0	0	1	0	3	30				
MCAM	4162	broad.mit.edu	37	11	119181165	119181165	+	Missense_Mutation	SNP	G	G	A	rs528808258		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:119181165G>A	ENST00000264036.4	-	15	1819	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	602					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTTACGAGACGGGGGTAGCGT	0.587																																						ENST00000264036.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1804-1806)cCg>cTg		melanoma cell adhesion molecule							103.0	106.0	105.0					11																	119181165		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119181165G>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1805C>T	11.37:g.119181165G>A	ENSP00000264036:p.Pro602Leu					MCAM_ENST00000392814.1_3'UTR	p.P602L	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	15	1819	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	602					O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1805C>T	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250904	0.39797	.	.	ENSG00000076706	ENST00000264036	T	0.54279	0.58	5.28	4.16	0.48862	.	.	.	.	.	T	0.34774	0.0909	N	0.24115	0.695	0.80722	D	1	B	0.19817	0.039	B	0.08055	0.003	T	0.25572	-1.0128	9	0.49607	T	0.09	-29.061	6.8537	0.24028	0.0992:0.0:0.6777:0.2231	.	602	P43121	MUC18_HUMAN	L	602	ENSP00000264036:P602L	ENSP00000264036:P602L	P	-	2	0	MCAM	118686375	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.883000	0.48554	2.461000	0.83175	0.563000	0.77884	CCG		0.587	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			58	99	0	0	0	1	0	58	99				
TRBV6-9	28598	broad.mit.edu	37	7	142104314	142104314	+	RNA	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr7:142104314A>T	ENST00000390379.1	-	0	150									T cell receptor beta variable 6-9																		TACCAGGACAAGTATCCATGG	0.512																																						ENST00000390379.1																			0																				169.0	158.0	161.0					7																	142104314		2011	4179	6190			28598							g.chr7:142104314A>T	X61447		7q34	2012-02-07			ENSG00000211732			"""T cell receptors / TRB locus"""	12234	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV69, TCRBV13S4, TCRBV6S9			OTTHUMG00000158905		7.37:g.142104314A>T														0	150	-									RNA	SNP	ENST00000390379.1	37																																																																																						0.512	TRBV6-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352517.1	NG_001333		84	100	0	0	0	1	0	84	100				
WSCD2	9671	broad.mit.edu	37	12	108634152	108634152	+	Silent	SNP	C	C	T	rs368092771		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:108634152C>T	ENST00000332082.4	+	9	1994	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	WSCD2_ENST00000261400.3_Silent_p.S392S|WSCD2_ENST00000549903.1_Silent_p.S392S|WSCD2_ENST00000547525.1_Silent_p.S392S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	392						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTGGCGCAGCGGACGGACCA	0.607																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1174-1176)agC>agT		WSC domain containing 2		C		0,4118		0,0,2059	122.0	130.0	127.0		1176	1.0	1.0	12		127	2,8416		0,2,4207	no	coding-synonymous	WSCD2	NM_014653.2		0,2,6266	TT,TC,CC		0.0238,0.0,0.016		392/566	108634152	2,12534	2059	4209	6268	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108634152C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1176C>T	12.37:g.108634152C>T						WSCD2_ENST00000549903.1_Silent_p.S392S|WSCD2_ENST00000547525.1_Silent_p.S392S|WSCD2_ENST00000261400.3_Silent_p.S392S	p.S392S			Q2TBF2	WSCD2_HUMAN			9	1994	+			392					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.1176C>T	CCDS41828.1																																																																																				0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		148	54	0	0	0	1	0	148	54				
NXF3	56000	broad.mit.edu	37	X	102337236	102337236	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chrX:102337236A>C	ENST00000395065.3	-	9	938	c.837T>G	c.(835-837)tgT>tgG	p.C279W	NXF3_ENST00000425463.2_Missense_Mutation_p.C190W|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	279					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTCTGTCCGCACACTTCTCTC	0.532																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(835-837)tgT>tgG		nuclear RNA export factor 3							438.0	294.0	343.0					X																	102337236		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337236A>C	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.837T>G	X.37:g.102337236A>C	ENSP00000378504:p.Cys279Trp					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.C190W	p.C279W	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			9	938	-			279					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.837T>G	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.010|0.010	-1.768869|-1.768869	0.00645|0.00645	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	T|T;T	0.42131|0.39997	0.98|1.07;1.05	3.4|3.4	-6.22|-6.22	0.02058|0.02058	.|.	0.657428|0.657428	0.17954|0.17954	N|N	0.156407|0.156407	T|T	0.14270|0.14270	0.0345|0.0345	N|N	0.04148|0.04148	-0.265|-0.265	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20780	.|0.048;0.02;0.0	.|B;B;B	.|0.20384	.|0.029;0.004;0.001	T|T	0.08166|0.08166	-1.0735|-1.0735	8|10	0.26408|0.32370	T|T	0.33|0.25	0.2628|0.2628	5.6711|5.6711	0.17723|0.17723	0.256:0.3128:0.4312:0.0|0.256:0.3128:0.4312:0.0	.|.	.|279;175;279	.|B4DYI1;E9PEY7;Q9H4D5	.|.;.;NXF3_HUMAN	G|W	156|279;190	ENSP00000404017:C156G|ENSP00000378504:C279W;ENSP00000404347:C190W	ENSP00000404017:C156G|ENSP00000378504:C279W	C|C	-|-	1|3	0|2	NXF3|NXF3	102223892|102223892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.199000|-0.199000	0.09491|0.09491	-1.605000|-1.605000	0.01593|0.01593	0.486000|0.486000	0.48141|0.48141	TGC|TGT		0.532	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		8	109	0	0	0	1	0	8	109				
PEX5L	51555	broad.mit.edu	37	3	179592166	179592166	+	Missense_Mutation	SNP	G	G	C	rs139208096		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:179592166G>C	ENST00000467460.1	-	7	1005	c.675C>G	c.(673-675)agC>agG	p.S225R	PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	225					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTTGAGGGCGCTTTTTCCAC	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(673-675)agC>agG		peroxisomal biogenesis factor 5-like							121.0	117.0	118.0					3																	179592166		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179592166G>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.675C>G	3.37:g.179592166G>C	ENSP00000419975:p.Ser225Arg					PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R|PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R	p.S225R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		7	1005	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		225					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.675C>G	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701581	0.30142	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640	D;D;D;D;D;D;D;D;D	0.88277	-2.35;-2.36;-2.33;-2.29;-2.32;-2.34;-2.34;-2.29;-2.34	5.55	-5.44	0.02624	.	0.284411	0.38272	N	0.001759	T	0.77611	0.4156	L	0.29908	0.895	0.34105	D	0.662318	B;B;B;P;P;P	0.42620	0.307;0.307;0.451;0.785;0.785;0.678	B;B;B;B;B;B	0.37508	0.091;0.091;0.097;0.252;0.252;0.128	T	0.75545	-0.3280	10	0.66056	D	0.02	-10.18	11.6215	0.51121	0.2745:0.1055:0.6199:0.0	.	166;201;117;223;190;225	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	R	225;223;190;223;117;33;182;113;166;117;201;33;33	ENSP00000419975:S225R;ENSP00000263962:S223R;ENSP00000418440:S190R;ENSP00000376420:S117R;ENSP00000418665:S33R;ENSP00000420555:S182R;ENSP00000418054:S166R;ENSP00000417270:S117R;ENSP00000419348:S201R	ENSP00000263962:S223R	S	-	3	2	PEX5L	181074860	0.297000	0.24408	0.962000	0.40283	0.965000	0.64279	-0.573000	0.05874	-0.600000	0.05790	-0.312000	0.09012	AGC		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		43	165	0	0	0	1	0	43	165				
MAST1	22983	broad.mit.edu	37	19	12975624	12975624	+	Splice_Site	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:12975624C>T	ENST00000251472.4	+	13	1407	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCCTGCAGGCGGCGACTGTG	0.537																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.e13-1		microtubule associated serine/threonine kinase 1							66.0	66.0	66.0					19																	12975624		2203	4300	6503	SO:0001630	splice_region_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975624C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1367-1C>T	19.37:g.12975624C>T							p.G456_splice	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			13	1407	+			456			Protein kinase.			Splice_Site	SNP	ENST00000251472.4	37	c.1366_splice	CCDS32921.1																																																																																				0.537	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	Silent	21	45	0	0	0	1	0	21	45				
CDR2L	30850	broad.mit.edu	37	17	72998278	72998278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:72998278C>T	ENST00000337231.5	+	4	873	c.461C>T	c.(460-462)aCc>aTc	p.T154I		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	154												all_lung(278;0.226)					CGCAGGCGTACCATCCACACC	0.647																																						ENST00000337231.5																			0											c.(460-462)aCc>aTc		cerebellar degeneration-related protein 2-like							67.0	47.0	54.0					17																	72998278		2203	4299	6502	SO:0001583	missense	30850							g.chr17:72998278C>T		CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"""paraneoplastic antigen"""						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.461C>T	17.37:g.72998278C>T	ENSP00000336587:p.Thr154Ile						p.T154I	NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN			4	873	+	all_lung(278;0.226)		154					B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	37	c.461C>T	CCDS11710.2	.	.	.	.	.	.	.	.	.	.	C	32	5.183390	0.94885	.	.	ENSG00000109089	ENST00000337231	T	0.47869	0.83	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.60439	-0.7263	10	0.23891	T	0.37	-28.6558	19.155	0.93506	0.0:1.0:0.0:0.0	.	154	Q86X02	CDR2L_HUMAN	I	154	ENSP00000336587:T154I	ENSP00000336587:T154I	T	+	2	0	CDR2L	70509873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.516000	0.81772	2.609000	0.88269	0.563000	0.77884	ACC		0.647	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603		4	13	0	0	0	1	0	4	13				
FAM135B	51059	broad.mit.edu	37	8	139277978	139277978	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:139277978A>G	ENST00000395297.1	-	4	435	c.265T>C	c.(265-267)Ttc>Ctc	p.F89L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	89										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAACTCGGAAGACCACAGCA	0.488										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(265-267)Ttc>Ctc		family with sequence similarity 135, member B							103.0	102.0	102.0					8																	139277978		1934	4155	6089	SO:0001583	missense	51059							g.chr8:139277978A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.265T>C	8.37:g.139277978A>G	ENSP00000378710:p.Phe89Leu	HNSCC(54;0.14)					p.F89L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	435	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		89					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.265T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517075	0.85495	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.38560	1.13	5.92	5.92	0.95590	.	0.000000	0.64402	U	0.000001	T	0.67249	0.2873	M	0.84948	2.725	0.46437	D	0.999044	D	0.76494	0.999	D	0.80764	0.994	T	0.72839	-0.4171	10	0.87932	D	0	-18.9373	12.7549	0.57328	1.0:0.0:0.0:0.0	.	89	Q49AJ0	F135B_HUMAN	L	89	ENSP00000378710:F89L	ENSP00000160713:F89L	F	-	1	0	FAM135B	139347160	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	7.428000	0.80296	2.266000	0.75297	0.533000	0.62120	TTC		0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		19	47	0	0	0	1	0	19	47				
AGBL5	60509	broad.mit.edu	37	2	27276859	27276859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:27276859C>A	ENST00000360131.4	+	4	642	c.483C>A	c.(481-483)taC>taA	p.Y161*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	161					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCTCCTACAGTGACTGCC	0.552																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(481-483)taC>taA		ATP/GTP binding protein-like 5							185.0	178.0	180.0					2																	27276859		2203	4300	6503	SO:0001587	stop_gained	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276859C>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.483C>A	2.37:g.27276859C>A	ENSP00000353249:p.Tyr161*					AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA	p.Y161*	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			4	642	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		161					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Nonsense_Mutation	SNP	ENST00000360131.4	37	c.483C>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	30	5.050303	0.93740	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	.	.	.	5.78	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.9875	13.9114	0.63869	0.0:0.9256:0.0:0.0744	.	.	.	.	X	161	.	.	Y	+	3	2	AGBL5	27130363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.639000	0.54339	1.454000	0.47793	0.561000	0.74099	TAC		0.552	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		87	138	1	0	1.02218e-41	1	1.19741e-41	87	138				
SAP130	79595	broad.mit.edu	37	2	128775458	128775458	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:128775458G>A	ENST00000259235.3	-	3	351	c.222C>T	c.(220-222)gtC>gtT	p.V74V	SAP130_ENST00000357702.5_Silent_p.V74V|SAP130_ENST00000259234.6_Silent_p.V48V	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	74					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCCTGGCACTGACTTCAGAAT	0.498																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(220-222)gtC>gtT		Sin3A-associated protein, 130kDa							85.0	74.0	78.0					2																	128775458		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128775458G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.222C>T	2.37:g.128775458G>A						SAP130_ENST00000259234.6_Silent_p.V48V|SAP130_ENST00000259235.3_Silent_p.V74V	p.V74V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	3	353	-	Colorectal(110;0.1)		74					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.222C>T	CCDS2153.1																																																																																				0.498	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		31	52	0	0	0	1	0	31	52				
LIPC	3990	broad.mit.edu	37	15	58834054	58834054	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:58834054T>C	ENST00000356113.6	+	5	959	c.344T>C	c.(343-345)gTg>gCg	p.V115A	LIPC_ENST00000299022.5_Missense_Mutation_p.V115A|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000414170.3_Missense_Mutation_p.V115A			P11150	LIPC_HUMAN	lipase, hepatic	115					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCCCAGCCAGTGAACGTGGGG	0.652																																						ENST00000414170.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(343-345)gTg>gCg		lipase, hepatic							37.0	39.0	38.0					15																	58834054		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58834054T>C		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.344T>C	15.37:g.58834054T>C	ENSP00000348425:p.Val115Ala					LIPC_ENST00000299022.5_Missense_Mutation_p.V115A|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000356113.6_Missense_Mutation_p.V115A	p.V115A			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	4	631	+		Colorectal(260;0.215)	115					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.344T>C	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	T	5.495	0.276321	0.10403	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022	D;D;D	0.90844	-2.74;-2.74;-2.74	4.6	4.6	0.57074	Lipase, N-terminal (1);	0.321128	0.30109	N	0.010392	D	0.83418	0.5250	L	0.45051	1.395	0.45056	D	0.998076	B	0.19935	0.04	B	0.22386	0.039	T	0.73726	-0.3892	10	0.02654	T	1	.	9.527	0.39171	0.0:0.0835:0.0:0.9165	.	115	P11150	LIPC_HUMAN	A	115	ENSP00000348425:V115A;ENSP00000395569:V115A;ENSP00000299022:V115A	ENSP00000299022:V115A	V	+	2	0	LIPC	56621346	0.997000	0.39634	0.909000	0.35828	0.876000	0.50452	4.078000	0.57606	1.923000	0.55706	0.379000	0.24179	GTG		0.652	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			14	11	0	0	0	1	0	14	11				
MYH4	4622	broad.mit.edu	37	17	10369589	10369589	+	Splice_Site	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:10369589C>A	ENST00000255381.2	-	4	459		c.e4+1		RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGGTGCTCACGTAGATCATC	0.433																																						ENST00000255381.2																			1	Unknown(1)	p.?(1)	kidney(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.e4+1		myosin, heavy chain 4, skeletal muscle							246.0	200.0	215.0					17																	10369589		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369589C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.348+1G>T	17.37:g.10369589C>A						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA		NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			4	459	-									Splice_Site	SNP	ENST00000255381.2	37		CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552854	0.65425	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4991	0.90875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2;MYH4	10310314	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.547000	0.82146	2.666000	0.90696	0.650000	0.86243	.		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Intron	55	99	1	0	4.88482e-21	1	5.60218e-21	55	99				
PAFAH2	5051	broad.mit.edu	37	1	26301058	26301058	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:26301058T>G	ENST00000374282.3	-	9	1021	c.842A>C	c.(841-843)aAt>aCt	p.N281T	PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	281					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTCAGTATTGATAAAGAA	0.468																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(841-843)aAt>aCt		platelet-activating factor acetylhydrolase 2, 40kDa							107.0	99.0	102.0					1																	26301058		2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26301058T>G	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.842A>C	1.37:g.26301058T>G	ENSP00000363400:p.Asn281Thr					PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T	p.N281T	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	9	1021	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	281					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.842A>C	CCDS270.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465439	0.84425	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.40756	1.02;1.02	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	T	0.59891	0.2227	L	0.59436	1.845	0.49582	D	0.9998	D	0.76494	0.999	D	0.85130	0.997	T	0.56056	-0.8042	10	0.30078	T	0.28	-16.3354	15.0208	0.71630	0.0:0.0:0.0:1.0	.	281	Q99487	PAFA2_HUMAN	T	281	ENSP00000363400:N281T;ENSP00000363402:N281T	ENSP00000363400:N281T	N	-	2	0	PAFAH2	26173645	1.000000	0.71417	0.919000	0.36401	0.918000	0.54935	6.245000	0.72398	2.192000	0.70111	0.529000	0.55759	AAT		0.468	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		24	28	0	0	0	1	0	24	28				
FBXO31	79791	broad.mit.edu	37	16	87376494	87376494	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:87376494C>A	ENST00000311635.7	-	5	733	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	241					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCTGCCTCCCGCCGGACATC	0.557																																						ENST00000311635.7																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(721-723)Ggg>Tgg		F-box protein 31							82.0	63.0	70.0					16																	87376494		2198	4299	6497	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87376494C>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.721G>T	16.37:g.87376494C>A	ENSP00000310841:p.Gly241Trp						p.G241W	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	5	733	-			241					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.721G>T	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130243	0.77549	.	.	ENSG00000103264	ENST00000311635	T	0.68765	-0.35	5.1	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76828	-0.2815	10	0.87932	D	0	-15.1586	14.861	0.70382	0.1448:0.8552:0.0:0.0	.	241;133	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	W	241	ENSP00000310841:G241W	ENSP00000310841:G241W	G	-	1	0	FBXO31	85933995	1.000000	0.71417	0.790000	0.31976	0.992000	0.81027	7.617000	0.83032	1.120000	0.41904	0.655000	0.94253	GGG		0.557	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		10	5	1	0	2.17888e-05	1	2.27602e-05	10	5				
SLC7A2	6542	broad.mit.edu	37	8	17407860	17407860	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:17407860T>C	ENST00000494857.1	+	6	967	c.749T>C	c.(748-750)aTg>aCg	p.M250T	SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000470360.1_Missense_Mutation_p.M290T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	250					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGGCTTTATGCCTTATGGC	0.448																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(868-870)aTg>aCg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						215.0	171.0	186.0					8																	17407860		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17407860T>C	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.749T>C	8.37:g.17407860T>C	ENSP00000419140:p.Met250Thr					SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T|SLC7A2_ENST00000494857.1_Missense_Mutation_p.M250T	p.M290T			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	7	986	+			250					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.869T>C	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520629	0.64747	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.62	5.62	0.85841	Amino acid permease domain (1);	0.153604	0.64402	D	0.000001	D	0.91710	0.7379	L	0.49350	1.555	0.58432	D	0.999992	B;P;P	0.48764	0.313;0.563;0.915	B;B;P	0.58266	0.124;0.205;0.836	D	0.92253	0.5810	10	0.62326	D	0.03	.	16.1326	0.81454	0.0:0.0:0.0:1.0	.	290;290;250	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	T	250;250;290;290;290	ENSP00000419140:M250T;ENSP00000430464:M250T;ENSP00000419873:M290T;ENSP00000004531:M290T;ENSP00000381164:M290T	ENSP00000004531:M290T	M	+	2	0	SLC7A2	17452238	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	ATG		0.448	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		31	10	0	0	0	1	0	31	10				
CLEC16A	23274	broad.mit.edu	37	16	11097000	11097000	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:11097000C>T	ENST00000409790.1	+	11	1371	c.1141C>T	c.(1141-1143)Cac>Tac	p.H381Y	CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GATGAACAAGCACAAGGGCAA	0.537																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1141-1143)Cac>Tac		C-type lectin domain family 16, member A							56.0	57.0	56.0					16																	11097000		1889	4127	6016	SO:0001583	missense	23274							g.chr16:11097000C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1141C>T	16.37:g.11097000C>T	ENSP00000387122:p.His381Tyr					CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y	p.H381Y	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			11	1371	+			381						Missense_Mutation	SNP	ENST00000409790.1	37	c.1141C>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495464	0.44352	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.45668	0.89	5.62	5.62	0.85841	.	0.203156	0.53938	D	0.000052	T	0.29028	0.0721	N	0.08118	0	0.80722	D	1	B;P	0.34757	0.393;0.467	B;B	0.34652	0.133;0.187	T	0.24048	-1.0171	10	0.62326	D	0.03	-24.8933	18.6399	0.91392	0.0:1.0:0.0:0.0	.	381;379	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	Y	381;381;379	ENSP00000387122:H381Y	ENSP00000386495:H379Y	H	+	1	0	CLEC16A	11004501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.939000	0.63526	2.662000	0.90505	0.655000	0.94253	CAC		0.537	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		15	35	0	0	0	1	0	15	35				
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATGACAAGATCGTTGGGGGCT	0.557													c|||	4427	0.883986	0.7814	0.9452	5008	,	,		10861	0.8641		0.9642	False		,,,				2504	0.9172					ENST00000603901.1																			0																				103.0	70.0	80.0					7																	142479940		692	1590	2282			154754							g.chr7:142479940C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479940C>T								NR_001296.3						0	72	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.557	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	60	0	0	0	1	0	4	60				
PCDHGA4	56111	broad.mit.edu	37	5	140735600	140735600	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:140735600C>A	ENST00000571252.1	+	1	833	c.833C>A	c.(832-834)aCg>aAg	p.T278K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACGTGACGTATTCTTTC	0.458																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(832-834)aCg>aAg									47.0	49.0	48.0					5																	140735600		1956	4146	6102	SO:0001583	missense	56111							g.chr5:140735600C>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.833C>A	5.37:g.140735600C>A	ENSP00000458570:p.Thr278Lys					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.T278K	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	833	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.833C>A	CCDS58979.1																																																																																				0.458	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		4	32	1	0	0.014758	1	0.0148485	4	32				
CCDC39	339829	broad.mit.edu	37	3	180397180	180397180	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:180397180G>C	ENST00000442201.2	-	0	108				CCDC39-AS1_ENST00000495357.1_RNA|CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTGCAAACGGATAGAGAAGA	0.582																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45								coiled-coil domain containing 39							118.0	114.0	115.0					3																	180397180		1966	4169	6135			339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180397180G>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.-12C>G	3.37:g.180397180G>C						CCDC39_ENST00000273654.4_Intron		NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		0	108	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)							B4E2H1	Translation_Start_Site	SNP	ENST00000442201.2	37		CCDS46964.1																																																																																				0.582	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		45	450	0	0	0	1	0	45	450				
RECQL	5965	broad.mit.edu	37	12	21630754	21630754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:21630754G>A	ENST00000444129.2	-	7	1318	c.850C>T	c.(850-852)Cca>Tca	p.P284S	RECQL_ENST00000421138.2_Missense_Mutation_p.P284S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	284					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATAGATTTGGCCTATTAAAA	0.328								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(850-852)Cca>Tca	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							47.0	47.0	47.0					12																	21630754		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21630754G>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.850C>T	12.37:g.21630754G>A	ENSP00000416739:p.Pro284Ser					RECQL_ENST00000421138.2_Missense_Mutation_p.P284S	p.P284S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			7	1318	-			284					A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.850C>T	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034575	0.35893	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.79033	-1.23;-1.23	4.7	3.82	0.43975	DEAD-like helicase (1);	0.154659	0.64402	N	0.000015	T	0.78336	0.4267	M	0.66297	2.02	0.43734	D	0.996225	D	0.56287	0.975	P	0.46685	0.524	T	0.80341	-0.1423	10	0.51188	T	0.08	-2.0634	13.5427	0.61684	0.0756:0.0:0.9244:0.0	.	284	P46063	RECQ1_HUMAN	S	284	ENSP00000416739:P284S;ENSP00000395449:P284S	ENSP00000395449:P284S	P	-	1	0	RECQL	21522021	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	3.965000	0.56788	1.348000	0.45733	-0.127000	0.14921	CCA		0.328	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		24	73	0	0	0	1	0	24	73				
NAV3	89795	broad.mit.edu	37	12	78225481	78225481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:78225481C>A	ENST00000397909.2	+	1	413	c.240C>A	c.(238-240)agC>agA	p.S80R	NAV3_ENST00000266692.7_Missense_Mutation_p.S80R|NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000228327.6_Missense_Mutation_p.S80R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	80	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S80R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGACAGCAAGGTTAGTT	0.413										HNSCC(70;0.22)																												ENST00000397909.2																			1	Substitution - Missense(1)	p.S80R(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(238-240)agC>agA		neuron navigator 3							61.0	57.0	58.0					12																	78225481		1873	4111	5984	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225481C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.240C>A	12.37:g.78225481C>A	ENSP00000381007:p.Ser80Arg	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000266692.7_Missense_Mutation_p.S80R|NAV3_ENST00000228327.6_Missense_Mutation_p.S80R	p.S80R			Q8IVL0	NAV3_HUMAN			1	413	+			80			CH.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.240C>A		.	.	.	.	.	.	.	.	.	.	C	16.59	3.164390	0.57476	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.25	3.28	0.37604	Calponin homology domain (4);	15.647800	0.02051	U	0.050060	T	0.58793	0.2147	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.991	T	0.56318	-0.7999	10	0.18276	T	0.48	-1.9813	9.8288	0.40928	0.0:0.8152:0.0:0.1848	.	80;80	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	R	80	ENSP00000446628:S80R;ENSP00000446132:S80R;ENSP00000381007:S80R;ENSP00000228327:S80R;ENSP00000266692:S80R	ENSP00000228327:S80R	S	+	3	2	NAV3	76749612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.034000	0.30204	0.610000	0.30035	0.655000	0.94253	AGC		0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		61	24	1	0	3.36121e-32	1	3.90949e-32	61	24				
CNTNAP4	85445	broad.mit.edu	37	16	76555134	76555134	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:76555134T>C	ENST00000476707.1	+	15	2611	c.2472T>C	c.(2470-2472)ttT>ttC	p.F824F	CNTNAP4_ENST00000307431.8_Silent_p.F820F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.F748F|CNTNAP4_ENST00000377504.4_Silent_p.F772F			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	821	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTCTTTTTTAAGACAACAG	0.408																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2458-2460)ttT>ttC		contactin associated protein-like 4							232.0	220.0	224.0					16																	76555134		1817	4069	5886	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76555134T>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2472T>C	16.37:g.76555134T>C						CNTNAP4_ENST00000478060.1_Silent_p.F748F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.F772F|CNTNAP4_ENST00000476707.1_Silent_p.F824F	p.F820F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			17	2845	+			821			Laminin G-like 3.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2460T>C																																																																																					0.408	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		79	249	0	0	0	1	0	79	249				
ANK2	287	broad.mit.edu	37	4	114277023	114277023	+	Missense_Mutation	SNP	G	G	A	rs372545180		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:114277023G>A	ENST00000357077.4	+	38	7302	c.7249G>A	c.(7249-7251)Gat>Aat	p.D2417N	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2417					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCTAGCCGAGATAGCGAAGT	0.498																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7249-7251)Gat>Aat		ankyrin 2, neuronal							60.0	61.0	61.0					4																	114277023		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277023G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7249G>A	4.37:g.114277023G>A	ENSP00000349588:p.Asp2417Asn					ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	p.D2417N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7302	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2384					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7249G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906065	0.72868	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.70399	-0.47;-0.48	6.06	5.22	0.72569	.	0.203180	0.33553	N	0.004783	T	0.73265	0.3565	L	0.49350	1.555	0.80722	D	1	B;D	0.63046	0.006;0.992	B;P	0.54270	0.011;0.747	T	0.72846	-0.4169	9	.	.	.	.	11.4858	0.50352	0.1369:0.0:0.8631:0.0	.	2384;2417	Q01484;Q01484-4	ANK2_HUMAN;.	N	2417;2384	ENSP00000349588:D2417N;ENSP00000264366:D2384N	.	D	+	1	0	ANK2	114496472	1.000000	0.71417	0.022000	0.16811	0.968000	0.65278	5.208000	0.65203	1.574000	0.49760	0.655000	0.94253	GAT		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		26	17	0	0	0	1	0	26	17				
GLIS3	169792	broad.mit.edu	37	9	4117821	4117821	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:4117821T>C	ENST00000324333.10	-	3	1385	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	398					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATCAGCAGTTTATAGCGGGCG	0.567																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1192-1194)Aaa>Gaa		GLIS family zinc finger 3							164.0	155.0	158.0					9																	4117821		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4117821T>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1192A>G	9.37:g.4117821T>C	ENSP00000325494:p.Lys398Glu					GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E	p.K398E	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1385	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	398					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1192A>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517452	0.85495	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	D;T	0.91237	-2.81;2.47	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000040	D	0.91260	0.7245	N	0.17082	0.46	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.997;1.0;1.0;0.998;0.997	D	0.92826	0.6276	10	0.62326	D	0.03	.	15.9595	0.79918	0.0:0.0:0.0:1.0	.	61;66;66;553;398	Q1PHK4;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	E	398;553	ENSP00000325494:K398E;ENSP00000371398:K553E	ENSP00000325494:K398E	K	-	1	0	GLIS3	4107821	1.000000	0.71417	0.914000	0.36105	0.869000	0.49853	8.013000	0.88655	2.178000	0.69098	0.533000	0.62120	AAA		0.567	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		70	31	0	0	0	1	0	70	31				
SCAI	286205	broad.mit.edu	37	9	127715225	127715225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:127715225C>T	ENST00000336505.6	-	18	1740	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	561					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.R584Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGATAATTTCGTGTTTCCTG	0.358																																						ENST00000336505.5																			1	Substitution - Missense(1)	p.R584Q(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(1681-1683)cGa>cAa		suppressor of cancer cell invasion							167.0	149.0	155.0					9																	127715225		1865	4104	5969	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127715225C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1682G>A	9.37:g.127715225C>T	ENSP00000336756:p.Arg561Gln					SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q	p.R561Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			18	1740	-			561					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1682G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066828	0.36470	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.41065	1.01;1.01	5.17	5.17	0.71159	.	0.134343	0.47852	D	0.000206	T	0.40119	0.1104	N	0.04203	-0.255	0.43047	D	0.994642	P;D	0.69078	0.934;0.997	P;D	0.69479	0.614;0.964	T	0.37709	-0.9694	10	0.13108	T	0.6	-7.4375	18.0219	0.89257	0.0:1.0:0.0:0.0	.	561;584	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	561;584	ENSP00000336756:R561Q;ENSP00000362650:R584Q	ENSP00000336756:R561Q	R	-	2	0	SCAI	126755046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.206000	0.72154	2.560000	0.86352	0.655000	0.94253	CGA		0.358	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		43	43	0	0	0	1	0	43	43				
LTBP1	4052	broad.mit.edu	37	2	33614263	33614282	+	Frame_Shift_Del	DEL	AGCTGTGTAACATCCCCGTG	AGCTGTGTAACATCCCCGTG	-	rs146752637|rs376436106|rs369478116		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG	ENST00000404816.2	+	32	5077_5096	c.4724_4743delAGCTGTGTAACATCCCCGTG	c.(4723-4743)cagctgtgtaacatccccgtgfs	p.QLCNIPV1575fs	LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs|LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs|LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1575	TB 4.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCC	0.564																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4723-4743)cfs		latent transforming growth factor beta binding protein 1																																				SO:0001589	frameshift_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4724_4743delAGCTGTGTAACATCCCCGTG	2.37:g.33614263_33614282delAGCTGTGTAACATCCCCGTG	ENSP00000386043:p.Gln1575fs					LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs|LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs	p.QLCNIPV1575fs			Q14766	LTBP1_HUMAN			32	5077_5096	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1575			TB 4.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Frame_Shift_Del	DEL	ENST00000404816.2	37	c.4724_4743delAGCTGTGTAACATCCCCGTG	CCDS33177.2																																																																																				0.564	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		23	102						23	102	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(67-72)atc>a		polyhomeotic homolog 3 (Drosophila)				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del	p.TI23del			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	136_138	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		11	855						11	855	---	---	---	---
UGT2B7	7364	broad.mit.edu	37	4	69962284	69962290	+	Frame_Shift_Del	DEL	TTTTGCT	TTTTGCT	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:69962284_69962290delTTTTGCT	ENST00000508661.1	+	1	73_79	c.46_52delTTTTGCT	c.(46-54)ttttgctttfs	p.FCF16fs	UGT2B7_ENST00000305231.7_Frame_Shift_Del_p.FCF16fs|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAACTGAGCTTTTGCTTTAGCTCTGG	0.42																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(46-54)ttfs		UDP glucuronosyltransferase 2 family, polypeptide B7																																				SO:0001589	frameshift_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962284_69962290delTTTTGCT	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.46_52delTTTTGCT	4.37:g.69962284_69962290delTTTTGCT	ENSP00000427659:p.Phe16fs					UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Frame_Shift_Del_p.FCF16fs	p.FCF16fs	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	92_98	+			16					B2R810|Q6GTW0	Frame_Shift_Del	DEL	ENST00000508661.1	37	c.46_52delTTTTGCT																																																																																					0.420	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		105	196						105	196	---	---	---	---
CTD-2296D1.4	0	broad.mit.edu	37	5	7373015	7373015	+	RNA	DEL	T	T	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:7373015delT	ENST00000513219.1	-	0	172				CTD-2296D1.5_ENST00000500616.2_lincRNA																							CTGATTGGTCTTCATCCAACA	0.458																																						ENST00000513219.1																			0																																																			0							g.chr5:7373015delT																													5.37:g.7373015delT														0	172	-									RNA	DEL	ENST00000513219.1	37																																																																																						0.458	CTD-2296D1.4-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000366353.1			2	4						2	4	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			7	9						7	9	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)del		cyclin T1				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del						p.H521del	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1783_1785	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		7	528						7	528	---	---	---	---
CALB2	794	broad.mit.edu	37	16	71423757	71423757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:71423757delC	ENST00000302628.4	+	11	882	c.805delC	c.(805-807)cccfs	p.P270fs	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	270	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CTGCAGCGAGCCCCCCATGTA	0.587																																						ENST00000302628.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(805-807)ccfs		calbindin 2							69.0	69.0	69.0					16																	71423757		2198	4300	6498	SO:0001589	frameshift_variant	794						calcium ion binding	g.chr16:71423757delC	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.805delC	16.37:g.71423757delC	ENSP00000307508:p.Pro270fs					CALB2_ENST00000349553.5_3'UTR	p.P270fs	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN			11	882	+		Ovarian(137;0.125)	270			EF-hand 6.		A8K4Y1|Q53HD2|Q96BK4	Frame_Shift_Del	DEL	ENST00000302628.4	37	c.805delC	CCDS10899.1																																																																																				0.587	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		50	135						50	135	---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12735473	12735473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:12735473delG	ENST00000343325.4	+	3	302	c.140delG	c.(139-141)tggfs	p.W47fs	ZNF791_ENST00000446165.1_Intron|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs|ZNF791_ENST00000540038.1_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGGGAAAAATGGGAAGACCCG	0.318																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(139-141)tgfs		zinc finger protein 791							58.0	54.0	55.0					19																	12735473		2203	4300	6503	SO:0001589	frameshift_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12735473delG	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.140delG	19.37:g.12735473delG	ENSP00000342974:p.Trp47fs					ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs	p.W47fs	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			3	302	+			47			KRAB.		B7Z586|Q8NC99	Frame_Shift_Del	DEL	ENST00000343325.4	37	c.140delG	CCDS12273.1																																																																																				0.318	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		26	15						26	15	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		11	21						11	21	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33614263	33614282	+	Frame_Shift_Del	DEL	AGCTGTGTAACATCCCCGTG	AGCTGTGTAACATCCCCGTG	-	rs146752637|rs376436106|rs369478116		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG	ENST00000404816.2	+	32	5077_5096	c.4724_4743delAGCTGTGTAACATCCCCGTG	c.(4723-4743)cagctgtgtaacatccccgtgfs	p.QLCNIPV1575fs	LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs|LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs|LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1575	TB 4.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCC	0.564																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4723-4743)cfs		latent transforming growth factor beta binding protein 1																																				SO:0001589	frameshift_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4724_4743delAGCTGTGTAACATCCCCGTG	2.37:g.33614263_33614282delAGCTGTGTAACATCCCCGTG	ENSP00000386043:p.Gln1575fs					LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs|LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs	p.QLCNIPV1575fs			Q14766	LTBP1_HUMAN			32	5077_5096	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1575			TB 4.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Frame_Shift_Del	DEL	ENST00000404816.2	37	c.4724_4743delAGCTGTGTAACATCCCCGTG	CCDS33177.2																																																																																				0.564	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		23	102						23	102	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160143939	160143940	+	Frame_Shift_Ins	INS	-	-	A	rs202139466	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:160143939_160143940insA	ENST00000357388.3	+	17	3007_3008	c.2556_2557insA	c.(2557-2559)aaafs	p.K853fs	SMC4_ENST00000344722.5_Frame_Shift_Ins_p.K853fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.K853fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.K828fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.K853fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	853					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2554-2559)gaaaaafs		structural maintenance of chromosomes 4																																				SO:0001589	frameshift_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160143939_160143940insA	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2564dupA	3.37:g.160143947_160143947dupA	ENSP00000349961:p.Lys853fs					SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs	p.EK852fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		17	3007_3008	+			852					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Ins	INS	ENST00000357388.3	37	c.2556_2557insA	CCDS3189.1																																																																																				0.322	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			7	901						7	901	---	---	---	---
UGT2B7	7364	broad.mit.edu	37	4	69962284	69962290	+	Frame_Shift_Del	DEL	TTTTGCT	TTTTGCT	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:69962284_69962290delTTTTGCT	ENST00000508661.1	+	1	73_79	c.46_52delTTTTGCT	c.(46-54)ttttgctttfs	p.FCF16fs	UGT2B7_ENST00000305231.7_Frame_Shift_Del_p.FCF16fs|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAACTGAGCTTTTGCTTTAGCTCTGG	0.42																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(46-54)ttfs		UDP glucuronosyltransferase 2 family, polypeptide B7																																				SO:0001589	frameshift_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962284_69962290delTTTTGCT	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.46_52delTTTTGCT	4.37:g.69962284_69962290delTTTTGCT	ENSP00000427659:p.Phe16fs					UGT2B7_ENST00000508661.1_Frame_Shift_Del_p.FCF16fs|UGT2B7_ENST00000509763.1_Intron	p.FCF16fs	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	92_98	+			16					B2R810|Q6GTW0	Frame_Shift_Del	DEL	ENST00000508661.1	37	c.46_52delTTTTGCT																																																																																					0.420	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		105	196						105	196	---	---	---	---
CTD-2296D1.4	0	broad.mit.edu	37	5	7373015	7373015	+	RNA	DEL	T	T	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:7373015delT	ENST00000513219.1	-	0	172				CTD-2296D1.5_ENST00000500616.2_lincRNA																							CTGATTGGTCTTCATCCAACA	0.458																																						ENST00000513219.1																			0																																																			0							g.chr5:7373015delT																													5.37:g.7373015delT														0	172	-									RNA	DEL	ENST00000513219.1	37																																																																																						0.458	CTD-2296D1.4-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000366353.1			2	4						2	4	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494017	65494018	+	In_Frame_Ins	INS	-	-	GCA			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:65494017_65494018insGCA	ENST00000321870.1	+	1	1204_1205	c.670_671insGCA	c.(670-672)ggc>gGCAgc	p.224_225insS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	224	Gly-rich.|Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						tagcggcagcggcggcagcagc	0.723																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(670-672)cgg>GCAcgg		basic helix-loop-helix family, member e22				53,2131		7,39,1046						1.7	0.5		dbSNP_126	4	233,4535		21,191,2172	no	coding	BHLHE22	NM_152414.4		28,230,3218	A1A1,A1R,RR		4.8867,2.4267,4.1139				286,6666				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494017_65494018insGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		Exception_encountered	8.37:g.65494017_65494018insGCA	ENSP00000318799:p.Gly224_Gly225insSer					RP11-21C4.1_ENST00000517909.1_RNA	p.223_224insA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1204_1205	+			223			Gly-rich.|Ser-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.670_671insGCA	CCDS6179.1																																																																																				0.723	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		4	5						4	5	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		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)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-309)ggt>gg		keratin associated protein 5-2																																				SO:0001651	inframe_deletion	440021					keratin filament		g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del					KRTAP5-AS1_ENST00000424148.1_RNA	p.GSKGGCGSCGG93del	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	322_351	-		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)	93			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		9	110						9	110	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		3	6						3	6	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			100216544							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	9						4	9	---	---	---	---
CALB2	794	broad.mit.edu	37	16	71423757	71423757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:71423757delC	ENST00000302628.4	+	11	882	c.805delC	c.(805-807)cccfs	p.P270fs	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	270	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CTGCAGCGAGCCCCCCATGTA	0.587																																						ENST00000302628.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(805-807)ccfs		calbindin 2							69.0	69.0	69.0					16																	71423757		2198	4300	6498	SO:0001589	frameshift_variant	794						calcium ion binding	g.chr16:71423757delC	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.805delC	16.37:g.71423757delC	ENSP00000307508:p.Pro270fs					CALB2_ENST00000349553.5_3'UTR	p.P270fs	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN			11	882	+		Ovarian(137;0.125)	270			EF-hand 6.		A8K4Y1|Q53HD2|Q96BK4	Frame_Shift_Del	DEL	ENST00000302628.4	37	c.805delC	CCDS10899.1																																																																																				0.587	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		50	135						50	135	---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12735473	12735473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:12735473delG	ENST00000343325.4	+	3	302	c.140delG	c.(139-141)tggfs	p.W47fs	ZNF791_ENST00000446165.1_Intron|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs|ZNF791_ENST00000540038.1_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGGGAAAAATGGGAAGACCCG	0.318																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(139-141)tgfs		zinc finger protein 791							58.0	54.0	55.0					19																	12735473		2203	4300	6503	SO:0001589	frameshift_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12735473delG	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.140delG	19.37:g.12735473delG	ENSP00000342974:p.Trp47fs					ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_5'UTR	p.W47fs	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			3	302	+			47			KRAB.		B7Z586|Q8NC99	Frame_Shift_Del	DEL	ENST00000343325.4	37	c.140delG	CCDS12273.1																																																																																				0.318	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		26	15						26	15	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs67182670|rs535773989	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591																																						ENST00000263205.7																			4	Insertion - In frame(4)	p.Q250_Q251insQ(4)	ovary(2)|large_intestine(2)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(751-753)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20920814_20920816delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.751_753delCAG	22.37:g.20920823_20920825delCAG	ENSP00000263205:p.Gln262del					MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del	p.Q262del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	820_822	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	262	Missing (in Ref. 3; BAB85034).	Missing.	Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.751_753delCAG	CCDS33602.1																																																																																				0.591	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		10	58						10	58	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	128						8	128	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		11	21						11	21	---	---	---	---
