#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
ARHGAP44	9912	broad.mit.edu	37	17	12888219	12888219	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:12888219T>G	ENST00000379672.5	+	20	2611	c.2311T>G	c.(2311-2313)Tct>Gct	p.S771A	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S771A|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S765A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	771	Interaction with BST2.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGAAAGCATGTCTACAGGTAA	0.532																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(2311-2313)Tct>Gct		Rho GTPase activating protein 44							40.0	40.0	40.0					17																	12888219		1915	4120	6035	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12888219T>G		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.2311T>G	17.37:g.12888219T>G	ENSP00000368994:p.Ser771Ala					ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S765A|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S771A	p.S771A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			20	2611	+			771					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.2311T>G	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.486526	0.63962	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T;T;T	0.23754	1.89;2.15;2.02;3.03	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.40040	0.1101	L	0.38175	1.15	0.46096	D	0.99886	P;D;D;P	0.67145	0.956;0.979;0.996;0.956	D;D;D;D	0.76071	0.931;0.982;0.987;0.931	T	0.21965	-1.0230	10	0.59425	D	0.04	.	12.8899	0.58066	0.0:0.0:0.0:1.0	.	765;229;427;771	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	A	771;427;765;229	ENSP00000368994:S771A;ENSP00000437542:S427A;ENSP00000342566:S765A;ENSP00000262444:S229A	ENSP00000262444:S229A	S	+	1	0	ARHGAP44	12828944	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.261000	0.65496	1.917000	0.55516	0.454000	0.30748	TCT		0.532	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		4	82	0	0	0	1	0	4	82				
NLRC3	197358	broad.mit.edu	37	16	3614464	3614464	+	RNA	SNP	G	G	A	rs547058160	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3614464G>A	ENST00000301749.7	-	0	879				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGGCGGACGAAGTGCCTCA	0.657													G|||	3	0.000599042	0.0	0.0014	5008	,	,		13730	0.002		0.0	False		,,,				2504	0.0					ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							35.0	42.0	40.0					16																	3614464		2031	4167	6198			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614464G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614464G>A						NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	879	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.657	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		20	67	0	0	0	1	0	20	67				
BRWD3	254065	broad.mit.edu	37	X	79932815	79932815	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:79932815G>A	ENST00000373275.4	-	41	4918	c.4702C>T	c.(4702-4704)Cgg>Tgg	p.R1568W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1568					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTCCTGTCCGGGGCTCTCTG	0.358																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4702-4704)Cgg>Tgg		bromodomain and WD repeat domain containing 3							43.0	41.0	41.0					X																	79932815		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79932815G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4702C>T	X.37:g.79932815G>A	ENSP00000362372:p.Arg1568Trp					BRWD3_ENST00000473691.1_5'UTR	p.R1568W	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	4918	-			1568					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4702C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851219	0.32699	.	.	ENSG00000165288	ENST00000373275	T	0.55760	0.5	4.22	1.3	0.21679	.	0.642862	0.14338	N	0.325889	T	0.33644	0.0870	L	0.29908	0.895	0.33725	D	0.617486	B	0.06786	0.001	B	0.04013	0.001	T	0.27571	-1.0070	9	.	.	.	-0.2419	5.1105	0.14806	0.0836:0.1416:0.6251:0.1496	.	1568	Q6RI45	BRWD3_HUMAN	W	1568	ENSP00000362372:R1568W	.	R	-	1	2	BRWD3	79819471	1.000000	0.71417	0.955000	0.39395	0.992000	0.81027	4.761000	0.62243	-0.035000	0.13691	-0.376000	0.06991	CGG		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		68	81	0	0	0	1	0	68	81				
PIP5K1B	8395	broad.mit.edu	37	9	71606159	71606159	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:71606159C>T	ENST00000265382.3	+	15	1911	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.L536F	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	536					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TGCTTCTGTGCTTGACGTCTA	0.433																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1606-1608)Ctt>Ttt		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							148.0	127.0	135.0					9																	71606159		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71606159C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1606C>T	9.37:g.71606159C>T	ENSP00000265382:p.Leu536Phe					PIP5K1B_ENST00000541509.1_Intron	p.536_536insF	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	15	1911	+			0					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1606C>T	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052196	0.19827	.	.	ENSG00000107242	ENST00000377290;ENST00000265382	T	0.32515	1.45	6.17	3.02	0.34903	.	.	.	.	.	T	0.15565	0.0375	N	0.05383	-0.06	0.30663	N	0.754162	B	0.11235	0.004	B	0.04013	0.001	T	0.10965	-1.0607	9	0.44086	T	0.13	.	7.9715	0.30130	0.0:0.6891:0.0:0.3108	.	536	O14986	PI51B_HUMAN	F	536	ENSP00000265382:L536F	ENSP00000265382:L536F	L	+	1	0	PIP5K1B	70795979	1.000000	0.71417	0.953000	0.39169	0.326000	0.28443	1.244000	0.32778	0.938000	0.37419	0.655000	0.94253	CTT		0.433	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		25	160	0	0	0	1	0	25	160				
XPNPEP2	7512	broad.mit.edu	37	X	128879233	128879233	+	Missense_Mutation	SNP	G	G	T	rs201743054		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:128879233G>T	ENST00000371106.3	+	4	481	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G97W	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	97						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCTTTACAGGGTCTGCAGG	0.493																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(289-291)Ggg>Tgg		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							330.0	200.0	244.0					X																	128879233		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128879233G>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.289G>T	X.37:g.128879233G>T	ENSP00000360147:p.Gly97Trp					XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G97W	p.G97W	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			4	481	+			97					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.289G>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471103	0.84533	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	D	0.89810	-2.57	5.67	5.67	0.87782	Creatinase (1);	0.000000	0.85682	D	0.000000	D	0.96965	0.9009	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98264	1.0500	10	0.87932	D	0	-21.8851	14.0531	0.64749	0.0:0.0:1.0:0.0	.	97;97	B4DV70;O43895	.;XPP2_HUMAN	W	97	ENSP00000360147:G97W	ENSP00000360146:G97W	G	+	1	0	XPNPEP2	128706914	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	8.345000	0.90057	2.391000	0.81399	0.600000	0.82982	GGG		0.493	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		3	78	1	0	0.004672	1	0.00479078	3	78				
CCDC64	92558	broad.mit.edu	37	12	120509568	120509568	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:120509568G>A	ENST00000397558.2	+	5	1052	c.1052G>A	c.(1051-1053)aGc>aAc	p.S351N	CCDC64_ENST00000446727.2_Missense_Mutation_p.S95N|CCDC64_ENST00000257583.4_5'UTR	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	351					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCGAGCAGAGCATGGAGGCT	0.612																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1051-1053)aGc>aAc		coiled-coil domain containing 64							26.0	29.0	28.0					12																	120509568		2175	4275	6450	SO:0001583	missense	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120509568G>A	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1052G>A	12.37:g.120509568G>A	ENSP00000380690:p.Ser351Asn					CCDC64_ENST00000257583.4_5'UTR|CCDC64_ENST00000446727.2_Missense_Mutation_p.S95N	p.S351N	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			5	1052	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		351					A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	c.1052G>A	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696454	0.68386	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000446727;ENST00000548673	T;T;T	0.33865	1.39;1.39;3.47	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.64567	1.98	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.72982	0.969;0.979	T	0.59899	-0.7367	10	0.62326	D	0.03	-7.3221	19.5632	0.95380	0.0:0.0:1.0:0.0	.	95;351	B4DNE7;Q6ZP65	.;BICR1_HUMAN	N	332;351;95;21	ENSP00000380690:S351N;ENSP00000399658:S95N;ENSP00000447477:S21N	ENSP00000349605:S332N	S	+	2	0	CCDC64	118993951	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.668000	0.91158	2.710000	0.92621	0.655000	0.94253	AGC		0.612	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		21	16	0	0	0	1	0	21	16				
RBM12B	389677	broad.mit.edu	37	8	94748635	94748635	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:94748635C>A	ENST00000399300.2	-	3	217	c.4G>T	c.(4-6)Gct>Tct	p.A2S	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.A2S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	2							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ATGACTACAGCCATGCTGAGC	0.433																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(4-6)Gct>Tct		RNA binding motif protein 12B							43.0	44.0	44.0					8																	94748635		1899	4054	5953	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748635C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.4G>T	8.37:g.94748635C>A	ENSP00000382239:p.Ala2Ser					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.A2S	p.A2S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	217	-	Breast(36;4.14e-07)		2					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.4G>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173073	0.57584	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.24151	2.94;2.98;2.22;2.22;2.2;1.87	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000017	T	0.34832	0.0911	N	0.11560	0.145	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.34976	-0.9807	10	0.46703	T	0.11	-19.3197	19.681	0.95964	0.0:1.0:0.0:0.0	.	2	Q8IXT5	RB12B_HUMAN	S	2	ENSP00000382239:A2S;ENSP00000427729:A2S;ENSP00000430474:A2S;ENSP00000428269:A2S;ENSP00000429807:A2S;ENSP00000430466:A2S	ENSP00000382239:A2S	A	-	1	0	RBM12B	94817811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.763000	0.68818	2.744000	0.94065	0.655000	0.94253	GCT		0.433	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		8	202	1	0	0.000157383	1	0.000165595	8	202				
GRIN2A	2903	broad.mit.edu	37	16	9934647	9934647	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:9934647T>G	ENST00000396573.2	-	8	1817	c.1508A>C	c.(1507-1509)cAa>cCa	p.Q503P	GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q503P|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q346P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q503P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	503					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GACTGCCCGTTGATAGACCAC	0.453																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1507-1509)cAa>cCa		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						75.0	60.0	65.0					16																	9934647		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934647T>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1508A>C	16.37:g.9934647T>G	ENSP00000379818:p.Gln503Pro					GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q346P|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q503P|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q503P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q503P	p.Q503P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			8	1817	-			503					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1508A>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.861695	0.32884	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.3	4.19	0.49359	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.353115	0.32028	N	0.006692	T	0.28995	0.0720	L	0.52905	1.665	0.44110	D	0.996887	B;B;B	0.18013	0.0;0.0;0.025	B;B;B	0.28709	0.001;0.002;0.093	T	0.05225	-1.0898	9	.	.	.	.	9.1934	0.37213	0.0:0.0903:0.0:0.9096	.	346;503;503	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	P	503;503;346;503;503	ENSP00000379818:Q503P;ENSP00000385872:Q503P;ENSP00000441572:Q346P;ENSP00000332549:Q503P;ENSP00000379820:Q503P	.	Q	-	2	0	GRIN2A	9842148	1.000000	0.71417	0.425000	0.26659	0.430000	0.31655	3.988000	0.56951	0.841000	0.35020	0.533000	0.62120	CAA		0.453	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			21	86	0	0	0	1	0	21	86				
FLNC	2318	broad.mit.edu	37	7	128481609	128481609	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:128481609G>A	ENST00000325888.8	+	13	2370	c.2109G>A	c.(2107-2109)aaG>aaA	p.K703K	FLNC_ENST00000346177.6_Silent_p.K703K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	703					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGACCTGAAGCTCTATGCCC	0.622																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2107-2109)aaG>aaA		filamin C, gamma							111.0	117.0	115.0					7																	128481609		2049	4197	6246	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481609G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2109G>A	7.37:g.128481609G>A						FLNC_ENST00000346177.6_Silent_p.K703K	p.K703K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			13	2370	+			703					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.2109G>A	CCDS43644.1																																																																																				0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			33	250	0	0	0	1	0	33	250				
HOOK3	84376	broad.mit.edu	37	8	42829299	42829299	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:42829299G>T	ENST00000307602.4	+	13	1483	c.1283G>T	c.(1282-1284)cGt>cTt	p.R428L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	428					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGAGCTTCGTTGTGTACAA	0.408			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1282-1284)cGt>cTt		hook microtubule-tethering protein 3							136.0	135.0	135.0					8																	42829299		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42829299G>T	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1283G>T	8.37:g.42829299G>T	ENSP00000305699:p.Arg428Leu						p.R428L	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		13	1483	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	428					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1283G>T	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649715	0.67358	.	.	ENSG00000168172	ENST00000307602	T	0.24350	1.86	5.76	5.76	0.90799	.	0.170106	0.46758	D	0.000267	T	0.38295	0.1035	L	0.58510	1.815	0.46542	D	0.999092	P	0.44241	0.829	P	0.48454	0.578	T	0.01630	-1.1308	10	0.26408	T	0.33	-11.0922	19.9571	0.97224	0.0:0.0:1.0:0.0	.	428	Q86VS8	HOOK3_HUMAN	L	428	ENSP00000305699:R428L	ENSP00000305699:R428L	R	+	2	0	HOOK3	42948456	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	5.470000	0.66756	2.721000	0.93114	0.655000	0.94253	CGT		0.408	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		10	278	1	0	4.68919e-08	1	5.11164e-08	10	278				
ARAP2	116984	broad.mit.edu	37	4	36179548	36179548	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:36179548A>G	ENST00000303965.4	-	9	2247	c.1758T>C	c.(1756-1758)gtT>gtC	p.V586V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	586					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTCAGGTGTAACAACAGCTT	0.393																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(1756-1758)gtT>gtC		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							141.0	137.0	139.0					4																	36179548		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36179548A>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1758T>C	4.37:g.36179548A>G							p.V586V	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			9	2247	-			586					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.1758T>C	CCDS3441.1																																																																																				0.393	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		57	167	0	0	0	1	0	57	167				
FBXO42	54455	broad.mit.edu	37	1	16577865	16577865	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:16577865C>T	ENST00000375592.3	-	10	1670	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGATCCTCGTCGGGGGGCCAA	0.483																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1453-1455)cGa>cAa		F-box protein 42							55.0	59.0	58.0					1																	16577865		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577865C>T	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1454G>A	1.37:g.16577865C>T	ENSP00000364742:p.Arg485Gln						p.R485Q	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1670	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	485					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1454G>A	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422896	0.62733	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.56103	3.7;0.48;0.48	5.51	5.51	0.81932	.	0.226096	0.38326	N	0.001739	T	0.28632	0.0709	N	0.08118	0	0.58432	D	0.999993	D	0.59767	0.986	B	0.35039	0.194	T	0.19910	-1.0291	10	0.13853	T	0.58	-9.7159	18.7669	0.91876	0.0:1.0:0.0:0.0	.	485	Q6P3S6	FBX42_HUMAN	Q	485;203;203	ENSP00000364742:R485Q;ENSP00000415663:R203Q;ENSP00000412416:R203Q	ENSP00000364742:R485Q	R	-	2	0	FBXO42	16450452	0.984000	0.35163	0.528000	0.27938	0.875000	0.50365	4.568000	0.60857	2.763000	0.94921	0.650000	0.86243	CGA		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			75	82	0	0	0	1	0	75	82				
OR2G2	81470	broad.mit.edu	37	1	247752473	247752473	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:247752473G>A	ENST00000320065.1	+	1	812	c.812G>A	c.(811-813)aGg>aAg	p.R271K	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	271						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(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGTAGATCCAGGGACCAGGGC	0.478																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(811-813)aGg>aAg		olfactory receptor, family 2, subfamily G, member 2							140.0	133.0	135.0					1																	247752473		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752473G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.812G>A	1.37:g.247752473G>A	ENSP00000326349:p.Arg271Lys					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R271K	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	812	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		271					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.812G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	6.550	0.469670	0.12461	.	.	ENSG00000177489	ENST00000320065	T	0.00091	8.74	4.29	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.626296	0.12731	N	0.443833	T	0.00073	0.0002	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02676	-1.1125	10	0.25106	T	0.35	.	3.4555	0.07514	0.5709:0.0:0.1042:0.3249	.	271	Q8NGZ5	OR2G2_HUMAN	K	271	ENSP00000326349:R271K	ENSP00000326349:R271K	R	+	2	0	OR2G2	245819096	0.000000	0.05858	0.674000	0.29902	0.808000	0.45660	-3.262000	0.00535	0.692000	0.31613	-0.356000	0.07607	AGG		0.478	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			205	143	0	0	0	1	0	205	143				
ZNF701	55762	broad.mit.edu	37	19	53086322	53086322	+	Missense_Mutation	SNP	G	G	A	rs186877176	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:53086322G>A	ENST00000540331.1	+	5	1433	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.R403H|ZNF701_ENST00000391785.3_Missense_Mutation_p.R337H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	403					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(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GTTTTCAGTCGCAAATCACAC	0.398													G|||	2	0.000399361	0.0	0.0029	5008	,	,		23562	0.0		0.0	False		,,,				2504	0.0				NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1207-1209)cGc>cAc		zinc finger protein 701							84.0	86.0	85.0					19																	53086322		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086322G>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1208G>A	19.37:g.53086322G>A	ENSP00000444339:p.Arg403His					CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R337H|ZNF701_ENST00000301093.2_Missense_Mutation_p.R403H	p.R403H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1433	+			337					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1208G>A	CCDS54311.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.090	0.774285	0.16051	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.07327	3.2;3.2;3.2	1.87	-3.75	0.04372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	N	0.04090	-0.28	0.09310	N	1	B;D	0.67145	0.172;0.996	B;P	0.53518	0.019;0.728	T	0.24012	-1.0172	9	0.32370	T	0.25	.	4.3018	0.10928	0.3412:0.0:0.5008:0.158	.	403;337	F5GZM6;Q9NV72	.;ZN701_HUMAN	H	337;403;403	ENSP00000375662:R337H;ENSP00000301093:R403H;ENSP00000444339:R403H	ENSP00000301093:R403H	R	+	2	0	ZNF701	57778134	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-7.247000	0.00041	-0.766000	0.04639	0.400000	0.26472	CGC		0.398	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		5	207	0	0	0	1	0	5	207				
OTUD7B	56957	broad.mit.edu	37	1	149919215	149919215	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:149919215G>A	ENST00000369135.4	-	11	1554	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	420	Catalytic.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GATGCAATTTGACCTCTAGGG	0.418																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1258-1260)gtC>gtT		OTU domain containing 7B							100.0	95.0	96.0					1																	149919215		1907	4121	6028	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149919215G>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1260C>T	1.37:g.149919215G>A							p.V420V	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		11	1554	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		420			Catalytic.		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	c.1260C>T	CCDS41389.1																																																																																				0.418	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		40	46	0	0	0	1	0	40	46				
GABRB1	2560	broad.mit.edu	37	4	47033952	47033952	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:47033952G>A	ENST00000295454.3	+	2	394	c.102G>A	c.(100-102)atG>atA	p.M34I	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	34					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGCAACATGTCATACGTGA	0.453																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(100-102)atG>atA		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						231.0	225.0	227.0					4																	47033952		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47033952G>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.102G>A	4.37:g.47033952G>A	ENSP00000295454:p.Met34Ile					GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	p.M34I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			2	394	+			34					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.102G>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465213	0.43839	.	.	ENSG00000163288	ENST00000513567;ENST00000295454	T;T	0.79845	-1.28;-1.31	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000002	T	0.72350	0.3449	N	0.14661	0.345	0.80722	D	1	P;B	0.35575	0.51;0.067	P;B	0.45794	0.493;0.029	T	0.68006	-0.5523	10	0.15952	T	0.53	-9.069	14.5119	0.67794	0.0:0.0:1.0:0.0	.	34;34	B4DJD0;P18505	.;GBRB1_HUMAN	I	1;34	ENSP00000426753:M1I;ENSP00000295454:M34I	ENSP00000295454:M34I	M	+	3	0	GABRB1	46728709	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	9.191000	0.94940	2.238000	0.73509	0.644000	0.83932	ATG		0.453	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			73	272	0	0	0	1	0	73	272				
TRBV27	28560	broad.mit.edu	37	7	142423410	142423410	+	RNA	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:142423410A>G	ENST00000390399.3	+	0	109									T cell receptor beta variable 27																		TGGAAGCCCAAGTGACCCAGA	0.498																																						ENST00000506718.1																			0																				75.0	74.0	74.0					7																	142423410		1899	4116	6015			0							g.chr7:142423410A>G	L36092		7q34	2012-02-07			ENSG00000211752	ENSG00000211752		"""T cell receptors / TRB locus"""	12208	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV14S1, TCRBV27S1			OTTHUMG00000158924		7.37:g.142423410A>G						TRBV27_ENST00000390399.3_RNA								0	418	+									RNA	SNP	ENST00000390399.3	37																																																																																						0.498	TRBV27-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352544.2	NG_001333		4	241	0	0	0	1	0	4	241				
LTF	4057	broad.mit.edu	37	3	46490455	46490455	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:46490455C>T	ENST00000231751.4	-	9	1406	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	LTF_ENST00000417439.1_Missense_Mutation_p.E371K|LTF_ENST00000426532.2_Missense_Mutation_p.E327K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	371	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		AGCTCCTGCTCGCCCACCGCA	0.662																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1111-1113)Gag>Aag		lactotransferrin	Pefloxacin(DB00487)						42.0	37.0	39.0					3																	46490455		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46490455C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1111G>A	3.37:g.46490455C>T	ENSP00000231751:p.Glu371Lys					LTF_ENST00000417439.1_Missense_Mutation_p.E371K|LTF_ENST00000426532.2_Missense_Mutation_p.E327K	p.E371K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	9	1406	-			371			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1111G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.107071	0.01813	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	4.85	-9.7	0.00521	.	9.959860	0.00945	N	0.002883	T	0.13756	0.0333	N	0.05510	-0.035	0.09310	N	1	B;B;B	0.29378	0.002;0.243;0.002	B;B;B	0.29785	0.001;0.107;0.001	T	0.11179	-1.0598	10	0.07644	T	0.81	-21.0074	4.4149	0.11452	0.0718:0.2593:0.3297:0.3392	.	371;358;371	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	K	371;327;371;358	ENSP00000231751:E371K;ENSP00000405719:E327K;ENSP00000405546:E371K;ENSP00000397427:E358K	ENSP00000231751:E371K	E	-	1	0	LTF	46465459	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.573000	0.05874	-4.329000	0.00056	-1.255000	0.01485	GAG		0.662	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		19	26	0	0	0	1	0	19	26				
CSMD3	114788	broad.mit.edu	37	8	113349859	113349859	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:113349859G>A	ENST00000297405.5	-	43	6998	c.6754C>T	c.(6754-6756)Cca>Tca	p.P2252S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2252	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTATCCTGGGAAACATTCA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6754-6756)Cca>Tca		CUB and Sushi multiple domains 3							106.0	107.0	107.0					8																	113349859		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113349859G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6754C>T	8.37:g.113349859G>A	ENSP00000297405:p.Pro2252Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148S	p.P2252S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			43	6998	-			2252			Sushi 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6754C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825250	0.90955	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.074335	0.53938	D	0.000044	T	0.77883	0.4197	M	0.62266	1.93	0.80722	D	1	P;B;D	0.89917	0.846;0.022;1.0	P;B;D	0.85130	0.557;0.098;0.997	T	0.75297	-0.3367	10	0.41790	T	0.15	.	19.4929	0.95059	0.0:0.0:1.0:0.0	.	2148;2252;2212	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2212;2252;1522;2148;2182	ENSP00000345799:P2212S;ENSP00000297405:P2252S;ENSP00000341558:P1522S;ENSP00000412263:P2148S;ENSP00000343124:P2182S	ENSP00000297405:P2252S	P	-	1	0	CSMD3	113419035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.801000	0.85960	2.835000	0.97688	0.650000	0.86243	CCA		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	347	0	0	0	1	0	7	347				
HSPA8	3312	broad.mit.edu	37	11	122928983	122928983	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:122928983T>C	ENST00000532636.1	-	8	1851	c.1732A>G	c.(1732-1734)Atc>Gtc	p.I578V	HSPA8_ENST00000526110.1_Missense_Mutation_p.I559V|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.I578V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.I578V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I432V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.I342V|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	578					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCCAGTTGATAATTTCATTA	0.393																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1732-1734)Atc>Gtc		heat shock 70kDa protein 8							91.0	96.0	94.0					11																	122928983		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928983T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1732A>G	11.37:g.122928983T>C	ENSP00000437125:p.Ile578Val					HSPA8_ENST00000227378.3_Missense_Mutation_p.I578V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I342V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.I559V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I432V|HSPA8_ENST00000532636.1_Missense_Mutation_p.I578V	p.I578V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	8	2008	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	578					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1732A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334910	0.60853	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	4.79	3.63	0.41609	.	0.120381	0.51477	D	0.000090	T	0.14399	0.0348	L	0.47716	1.5	0.54753	D	0.999988	B;B	0.15473	0.013;0.001	B;B	0.24269	0.052;0.052	T	0.03403	-1.1040	10	0.48119	T	0.1	-19.4615	11.782	0.52020	0.0:0.0:0.1474:0.8526	.	578;578	Q53GZ6;P11142	.;HSP7C_HUMAN	V	578;432;578;578;342;559;169;130	ENSP00000437125:I578V;ENSP00000437189:I432V;ENSP00000432083:I578V;ENSP00000227378:I578V;ENSP00000433316:I342V;ENSP00000433584:I559V;ENSP00000435908:I169V;ENSP00000435019:I130V	ENSP00000227378:I578V	I	-	1	0	HSPA8	122434193	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.045000	0.64220	0.760000	0.33108	0.459000	0.35465	ATC		0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			5	226	0	0	0	1	0	5	226				
DZIP3	9666	broad.mit.edu	37	3	108351853	108351853	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:108351853G>A	ENST00000361582.3	+	9	980	c.750G>A	c.(748-750)acG>acA	p.T250T	DZIP3_ENST00000463306.1_Silent_p.T250T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	250					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGAAGCAGACGATTTGTAGTT	0.274																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(748-750)acG>acA		DAZ interacting zinc finger protein 3							129.0	143.0	138.0					3																	108351853		2203	4292	6495	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108351853G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.750G>A	3.37:g.108351853G>A						DZIP3_ENST00000463306.1_Silent_p.T250T	p.T250T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			9	980	+			250					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.750G>A	CCDS2952.1																																																																																				0.274	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		5	482	0	0	0	1	0	5	482				
SLC9A7	84679	broad.mit.edu	37	X	46531996	46531996	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:46531996A>G	ENST00000328306.4	-	4	695	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	224					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCAATAATGAAGCATGAAACA	0.383																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(670-672)Ttc>Ctc		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							145.0	120.0	129.0					X																	46531996		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46531996A>G	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.670T>C	X.37:g.46531996A>G	ENSP00000330320:p.Phe224Leu						p.F224L	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			4	695	-			224					O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.670T>C	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708295	0.68615	.	.	ENSG00000065923	ENST00000328306	T	0.13196	2.61	6.02	6.02	0.97574	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	N	0.17474	0.49	0.80722	D	1	B	0.17852	0.024	B	0.26969	0.075	T	0.23868	-1.0176	10	0.23302	T	0.38	.	15.4565	0.75318	1.0:0.0:0.0:0.0	.	224	Q96T83	SL9A7_HUMAN	L	224	ENSP00000330320:F224L	ENSP00000330320:F224L	F	-	1	0	SLC9A7	46416940	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.849000	0.92178	2.034000	0.60081	0.486000	0.48141	TTC		0.383	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		77	101	0	0	0	1	0	77	101				
OR8B3	390271	broad.mit.edu	37	11	124266802	124266802	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:124266802T>A	ENST00000354597.3	-	1	462	c.446A>T	c.(445-447)tAc>tTc	p.Y149F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCCCATTATGTAAGCAGCAAA	0.473																																						ENST00000354597.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(445-447)tAc>tTc		olfactory receptor, family 8, subfamily B, member 3							29.0	25.0	26.0					11																	124266802		2200	4279	6479	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266802T>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.446A>T	11.37:g.124266802T>A	ENSP00000346611:p.Tyr149Phe						p.Y149F	NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	462	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	149					Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.446A>T	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	7.542	0.660826	0.14645	.	.	ENSG00000196661	ENST00000354597	T	0.37411	1.2	3.46	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000058	T	0.36138	0.0956	L	0.60957	1.885	0.30303	N	0.789274	B	0.30563	0.285	B	0.40477	0.33	T	0.38308	-0.9667	10	0.52906	T	0.07	.	4.8668	0.13613	0.0:0.4092:0.0:0.5908	.	149	Q8NGG8	OR8B3_HUMAN	F	149	ENSP00000346611:Y149F	ENSP00000346611:Y149F	Y	-	2	0	OR8B3	123772012	0.002000	0.14202	0.029000	0.17559	0.005000	0.04900	-0.267000	0.08619	0.706000	0.31912	0.443000	0.29094	TAC		0.473	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		9	46	0	0	0	1	0	9	46				
CHCHD7	79145	broad.mit.edu	37	8	57129008	57129008	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:57129008C>A	ENST00000355315.3	+	3	170	c.71C>A	c.(70-72)aCc>aAc	p.T24N	CHCHD7_ENST00000521831.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000518801.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000523975.1_Missense_Mutation_p.T36N|CHCHD7_ENST00000523061.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000517933.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000521524.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000519367.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000396723.5_Missense_Mutation_p.T33N|CHCHD7_ENST00000303759.3_Missense_Mutation_p.T49N	NM_001011670.1|NM_001011671.1	NP_001011670.1|NP_001011671.1	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	24	CHCH.					mitochondrion (GO:0005739)			CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GATGCTTCCACCAGATGTCTG	0.398			T	PLAG1	salivary adenoma																																	ENST00000523975.1				Dom	yes		8	8q11.2	79145	T	coiled-coil-helix-coiled-coil-helix domain containing 7			E	PLAG1		salivary adenoma	CHCHD7/PLAG1(12)	0				endometrium(1)	1						c.(106-108)aCc>aAc		coiled-coil-helix-coiled-coil-helix domain containing 7							93.0	93.0	93.0					8																	57129008		2203	4300	6503	SO:0001583	missense	79145							g.chr8:57129008C>A	AK095922	CCDS34895.1, CCDS34896.1, CCDS6166.2, CCDS55232.1, CCDS55233.1	8q11.23	2012-10-15			ENSG00000170791	ENSG00000170791		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	28314	protein-coding gene	gene with protein product	"""COX23 cytochrome c oxidase assembly homolog (S. cerevisiae)"""	611238				20922212, 22842048	Standard	XR_428340		Approved	MGC2217, COX23	uc003xsv.3	Q9BUK0	OTTHUMG00000074081	ENST00000355315.3:c.71C>A	8.37:g.57129008C>A	ENSP00000347469:p.Thr24Asn					CHCHD7_ENST00000519367.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000355315.3_Missense_Mutation_p.T24N|CHCHD7_ENST00000521524.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000303759.3_Missense_Mutation_p.T49N|CHCHD7_ENST00000396723.5_Missense_Mutation_p.T33N|CHCHD7_ENST00000523061.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000521831.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000518801.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000517933.1_Missense_Mutation_p.T24N	p.T36N			Q9BUK0	CHCH7_HUMAN	Epithelial(17;0.00159)|all cancers(17;0.0112)		4	255	+		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	24			CHCH.		A8K223|E9PBH3|J3KNE9|Q7Z588	Missense_Mutation	SNP	ENST00000355315.3	37	c.107C>A	CCDS34896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.30|14.30	2.494767|2.494767	0.44352|0.44352	.|.	.|.	ENSG00000170791|ENSG00000170791	ENST00000521831;ENST00000518801;ENST00000521524;ENST00000519367|ENST00000355315;ENST00000303759;ENST00000517636;ENST00000517933;ENST00000523975;ENST00000396723;ENST00000523061	.|T;T;T;T	.|0.16457	.|2.34;2.34;2.34;2.34	5.64|5.64	3.75|3.75	0.43078|0.43078	.|.	.|0.355260	.|0.29066	.|N	.|0.013258	T|T	0.10508|0.10508	0.0257|0.0257	.|.	.|.	.|.	0.31684|0.31684	N|N	0.642762|0.642762	B;B;B|B;B;B	0.24823|0.23806	0.112;0.112;0.112|0.002;0.091;0.019	B;B;B|B;B;B	0.27380|0.17433	0.019;0.079;0.019|0.007;0.018;0.012	T|T	0.09684|0.09684	-1.0663|-1.0663	7|9	0.87932|0.27785	D|T	0|0.31	.|.	7.5049|7.5049	0.27538|0.27538	0.1094:0.6544:0.1665:0.0698|0.1094:0.6544:0.1665:0.0698	.|.	48;39;51|24;33;36	E5RJ15;E9PBH3;Q9BUK0-3|Q9BUK0;E5RII1;Q9BUK0-2	.;.;.|CHCH7_HUMAN;.;.	T|N	39;51;51;39|24;49;24;24;36;33;24	.|ENSP00000347469:T24N;ENSP00000306425:T49N;ENSP00000428917:T36N;ENSP00000379949:T33N	ENSP00000428274:P51T|ENSP00000306425:T49N	P|T	+|+	1|2	0|0	CHCHD7|CHCHD7	57291562|57291562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	1.087000|1.087000	0.30865|0.30865	1.381000|1.381000	0.46364|0.46364	-0.137000|-0.137000	0.14449|0.14449	CCA|ACC		0.398	CHCHD7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378218.1	NM_024300		5	201	1	0	0.000602214	1	0.000622803	5	201				
FAM50B	26240	broad.mit.edu	37	6	3850197	3850197	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:3850197C>T	ENST00000380274.1	+	1	578	c.152C>T	c.(151-153)gCg>gTg	p.A51V	FAM50B_ENST00000380272.3_Missense_Mutation_p.A51V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	51						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGGTTCTCGGCGCATTACGAC	0.647																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(151-153)gCg>gTg		family with sequence similarity 50, member B							56.0	51.0	53.0					6																	3850197		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850197C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.152C>T	6.37:g.3850197C>T	ENSP00000369627:p.Ala51Val					FAM50B_ENST00000380272.3_Missense_Mutation_p.A51V	p.A51V			Q9Y247	FA50B_HUMAN			1	578	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	51					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.152C>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.701810	0.48307	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.16	3.29	0.37713	.	0.120892	0.53938	N	0.000043	T	0.32224	0.0822	L	0.60455	1.87	0.40709	D	0.982558	P	0.48294	0.908	B	0.40375	0.327	T	0.20405	-1.0276	9	0.49607	T	0.09	-18.0554	9.945	0.41602	0.0:0.8984:0.0:0.1016	.	51	Q9Y247	FA50B_HUMAN	V	51	.	ENSP00000369625:A51V	A	+	2	0	FAM50B	3795196	0.999000	0.42202	0.104000	0.21259	0.464000	0.32679	4.759000	0.62227	1.104000	0.41587	0.561000	0.74099	GCG		0.647	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		3	51	0	0	0	1	0	3	51				
OR51I1	390063	broad.mit.edu	37	11	5462403	5462403	+	Silent	SNP	T	T	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:5462403T>A	ENST00000380211.1	-	1	341	c.342A>T	c.(340-342)tcA>tcT	p.S114S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	114					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTATGCCTGACTCCATGA	0.458																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(340-342)tcA>tcT		olfactory receptor, family 51, subfamily I, member 1							135.0	113.0	120.0					11																	5462403		2201	4297	6498	SO:0001819	synonymous_variant	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462403T>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.342A>T	11.37:g.5462403T>A						HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	p.S114S	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	341	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	114					B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	c.342A>T	CCDS31382.1																																																																																				0.458	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		4	122	0	0	0	1	0	4	122				
CXCL6	6372	broad.mit.edu	37	4	74702739	74702739	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:74702739G>A	ENST00000226317.5	+	2	422	c.168G>A	c.(166-168)ctG>ctA	p.L56L	CXCL6_ENST00000515050.1_Silent_p.L56L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	56					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCGTTACGCTGAGAGTAAACC	0.532																																						ENST00000226317.5																			0				large_intestine(1)|lung(7)	8						c.(166-168)ctG>ctA		chemokine (C-X-C motif) ligand 6							111.0	128.0	122.0					4																	74702739		2203	4300	6503	SO:0001819	synonymous_variant	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702739G>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.168G>A	4.37:g.74702739G>A						CXCL6_ENST00000515050.1_Silent_p.L56L	p.L56L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	422	+	Breast(15;0.00102)		56					B2R4X3|Q4W5D4	Silent	SNP	ENST00000226317.5	37	c.168G>A	CCDS3560.1																																																																																				0.532	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		74	7	0	0	0	1	0	74	7				
HHIPL2	79802	broad.mit.edu	37	1	222721259	222721259	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:222721259G>T	ENST00000343410.6	-	1	186	c.128C>A	c.(127-129)cCc>cAc	p.P43H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	43					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGGCACTGGGGGTGTCCCTG	0.602																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(127-129)cCc>cAc		HHIP-like 2							33.0	37.0	36.0					1																	222721259		1918	4133	6051	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222721259G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.128C>A	1.37:g.222721259G>T	ENSP00000342118:p.Pro43His						p.P43H	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	186	-			43					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.128C>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224954	0.79576	.	.	ENSG00000143512	ENST00000343410	T	0.55413	0.52	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73914	-0.3832	10	0.87932	D	0	-22.8411	18.1545	0.89687	0.0:0.0:1.0:0.0	.	43	Q6UWX4	HIPL2_HUMAN	H	43	ENSP00000342118:P43H	ENSP00000342118:P43H	P	-	2	0	HHIPL2	220787882	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.424000	0.80242	2.250000	0.74265	0.655000	0.94253	CCC		0.602	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		14	70	1	0	9.31168e-06	1	9.97091e-06	14	70				
C2orf16	84226	broad.mit.edu	37	2	27804907	27804907	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:27804907G>A	ENST00000408964.2	+	1	5519	c.5468G>A	c.(5467-5469)cGc>cAc	p.R1823H	AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1823	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCATCGCAGTCCCTCT	0.552																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5467-5469)cGc>cAc		chromosome 2 open reading frame 16							93.0	95.0	95.0					2																	27804907		1914	4115	6029	SO:0001583	missense	84226							g.chr2:27804907G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5468G>A	2.37:g.27804907G>A	ENSP00000386190:p.Arg1823His						p.R1823H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5519	+	Acute lymphoblastic leukemia(172;0.155)		1823			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5468G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	g	12.61	1.988745	0.35131	.	.	ENSG00000221843	ENST00000408964	T	0.05139	3.49	2.93	-1.97	0.07503	.	.	.	.	.	T	0.02418	0.0074	N	0.04508	-0.205	0.09310	N	1	B	0.21688	0.059	B	0.10450	0.005	T	0.45731	-0.9241	9	0.27082	T	0.32	.	4.2797	0.10827	0.5715:0.0:0.2537:0.1748	.	1823	Q68DN1	CB016_HUMAN	H	1823	ENSP00000386190:R1823H	ENSP00000386190:R1823H	R	+	2	0	C2orf16	27658411	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-3.891000	0.00341	-0.499000	0.06623	0.462000	0.41574	CGC		0.552	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		106	145	0	0	0	1	0	106	145				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		4	155	0	0	0	1	0	4	155				
KMT2C	58508	broad.mit.edu	37	7	151935819	151935819	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:151935819A>G	ENST00000262189.6	-	15	2843	c.2625T>C	c.(2623-2625)ccT>ccC	p.P875P	KMT2C_ENST00000355193.2_Silent_p.P875P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	875					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGCACTGCCAGGAAGCTGCC	0.423																																						ENST00000355193.2																			0											c.(2623-2625)ccT>ccC		lysine (K)-specific methyltransferase 2C							34.0	37.0	36.0					7																	151935819		2180	4269	6449	SO:0001819	synonymous_variant	58508							g.chr7:151935819A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2625T>C	7.37:g.151935819A>G						KMT2C_ENST00000262189.6_Silent_p.P875P	p.P875P							15	2843	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.2625T>C	CCDS5931.1																																																																																				0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			13	279	0	0	0	1	0	13	279				
RRM2B	50484	broad.mit.edu	37	8	103226348	103226348	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:103226348G>C	ENST00000251810.3	-	7	966	c.723C>G	c.(721-723)taC>taG	p.Y241*	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Nonsense_Mutation_p.Y29*|RRM2B_ENST00000395912.2_Nonsense_Mutation_p.Y189*	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	241					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	TATTTACTAAGTATTGGAACA	0.378								Modulation of nucleotide pools																														ENST00000251810.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(721-723)taC>taG	Modulation of nucleotide pools	ribonucleotide reductase M2 B (TP53 inducible)							107.0	99.0	102.0					8																	103226348		2203	4300	6503	SO:0001587	stop_gained	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103226348G>C	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.723C>G	8.37:g.103226348G>C	ENSP00000251810:p.Tyr241*					RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Nonsense_Mutation_p.Y29*|RRM2B_ENST00000395912.2_Nonsense_Mutation_p.Y189*	p.Y241*	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		7	966	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		241					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Nonsense_Mutation	SNP	ENST00000251810.3	37	c.723C>G	CCDS34932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265790|5.265790	0.95399|0.95399	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000522368|ENST00000251810;ENST00000535248;ENST00000519317;ENST00000395912	.|.	.|.	.|.	5.48|5.48	4.57|4.57	0.56435|0.56435	.|.	.|0.055149	.|0.85682	.|D	.|0.000000	T|.	0.58250|.	0.2109|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.54370|.	-0.8304|.	4|.	.|0.28530	.|T	.|0.3	.|.	10.3085|10.3085	0.43695|0.43695	0.1814:0.0:0.8186:0.0|0.1814:0.0:0.8186:0.0	.|.	.|.	.|.	.|.	V|X	298|241;187;29;189	.|.	.|ENSP00000251810:Y241X	L|Y	-|-	1|3	0|2	RRM2B|RRM2B	103295524|103295524	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.978000|0.978000	0.69477|0.69477	3.769000|3.769000	0.55303|0.55303	1.365000|1.365000	0.46057|0.46057	0.591000|0.591000	0.81541|0.81541	CTT|TAC		0.378	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			32	193	0	0	0	1	0	32	193				
UVSSA	57654	broad.mit.edu	37	4	1343335	1343335	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:1343335G>A	ENST00000389851.4	+	3	569	c.122G>A	c.(121-123)cGc>cAc	p.R41H	UVSSA_ENST00000507531.1_Missense_Mutation_p.R41H|UVSSA_ENST00000511216.1_Missense_Mutation_p.R41H	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	41	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CAGCTGAGCCGCGCCTACCGC	0.632																																						ENST00000389851.4																			0											c.(121-123)cGc>cAc		UV-stimulated scaffold protein A							56.0	51.0	53.0					4																	1343335		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1343335G>A	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.122G>A	4.37:g.1343335G>A	ENSP00000374501:p.Arg41His					UVSSA_ENST00000511216.1_Missense_Mutation_p.R41H|UVSSA_ENST00000507531.1_Missense_Mutation_p.R41H	p.R41H	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			3	569	+			41					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.122G>A	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.663679	0.00772	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.22336	1.96;1.96;1.96	4.88	-0.51	0.11973	.	0.264234	0.42821	N	0.000644	T	0.02649	0.0080	N	0.00067	-2.295	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.48658	-0.9016	10	0.02654	T	1	.	9.0491	0.36365	0.704:0.0:0.296:0.0	.	41	Q2YD98	K1530_HUMAN	H	41	ENSP00000425130:R41H;ENSP00000374501:R41H;ENSP00000421741:R41H	ENSP00000374501:R41H	R	+	2	0	KIAA1530	1333335	0.936000	0.31750	0.003000	0.11579	0.007000	0.05969	2.370000	0.44240	-0.318000	0.08665	-0.793000	0.03317	CGC		0.632	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		15	55	0	0	0	1	0	15	55				
TYW1B	441250	broad.mit.edu	37	7	72040546	72040546	+	RNA	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:72040546G>C	ENST00000435769.2	-	0	2067				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TGGGATCAAAGCTTCTTTCAT	0.398																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							294.0	220.0	242.0					7																	72040546		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040546G>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040546G>C										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.398	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		4	216	0	0	0	1	0	4	216				
MUC17	140453	broad.mit.edu	37	7	100679419	100679419	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:100679419A>G	ENST00000306151.4	+	3	4786	c.4722A>G	c.(4720-4722)ccA>ccG	p.P1574P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1574	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCACTCCACTAACAAGTT	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4720-4722)ccA>ccG		mucin 17, cell surface associated							266.0	250.0	255.0					7																	100679419		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679419A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4722A>G	7.37:g.100679419A>G							p.P1574P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4786	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1574			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4722A>G	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	557	0	0	0	1	0	9	557				
KLF9	687	broad.mit.edu	37	9	73002695	73002695	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:73002695C>G	ENST00000377126.2	-	2	1992	c.732G>C	c.(730-732)ttG>ttC	p.L244F		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	244					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCACCTCACAAAGCGTTGG	0.587																																						ENST00000377126.2																			0				endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(730-732)ttG>ttC		Kruppel-like factor 9							47.0	48.0	48.0					9																	73002695		2203	4300	6503	SO:0001583	missense	687				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:73002695C>G	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	1123	protein-coding gene	gene with protein product		602902	"""basic transcription element binding protein 1"""	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.732G>C	9.37:g.73002695C>G	ENSP00000366330:p.Leu244Phe						p.L244F	NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN			2	1992	-			244					B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	c.732G>C	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293151	0.40594	.	.	ENSG00000119138	ENST00000377126	T	0.05580	3.42	5.47	4.51	0.55191	.	0.451330	0.18843	N	0.129606	T	0.05364	0.0142	N	0.22421	0.69	0.27482	N	0.952543	B	0.06786	0.001	B	0.04013	0.001	T	0.21042	-1.0257	10	0.35671	T	0.21	.	12.3601	0.55199	0.2792:0.7208:0.0:0.0	.	244	Q13886	KLF9_HUMAN	F	244	ENSP00000366330:L244F	ENSP00000366330:L244F	L	-	3	2	KLF9	72192515	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.358000	0.34102	2.545000	0.85829	0.655000	0.94253	TTG		0.587	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		22	126	0	0	0	1	0	22	126				
TTN	7273	broad.mit.edu	37	2	179536914	179536914	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:179536914C>A	ENST00000591111.1	-	151	34113	c.33889G>T	c.(33889-33891)Gta>Tta	p.V11297L	TTN_ENST00000589042.1_Missense_Mutation_p.V11671L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10370L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	11297	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			tctgcttctactacttctaat	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(35011-35013)Gta>Tta		titin							36.0	31.0	33.0					2																	179536914		1782	4006	5788	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179536914C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33889G>T	2.37:g.179536914C>A	ENSP00000465570:p.Val11297Leu					TTN_ENST00000591111.1_Missense_Mutation_p.V11297L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V10370L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	p.V11671L	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)		155	35235	-			11537			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.35011G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.29|12.29	1.894998|1.894998	0.33442|0.33442	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000448510|ENST00000342992	.|T	.|0.70045	.|-0.45	5.11|5.11	3.28|3.28	0.37604|0.37604	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	T|T	0.53722|0.53722	0.1814|0.1814	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.51132|0.51132	-0.8744|-0.8744	5|9	.|0.87932	.|D	.|0	.|.	9.4975|9.4975	0.38997|0.38997	0.0:0.7697:0.0:0.2303|0.0:0.7697:0.0:0.2303	.|.	.|11297	.|Q8WZ42	.|TITIN_HUMAN	I|L	28|10370	.|ENSP00000343764:V10370L	.|ENSP00000343764:V10370L	S|V	-|-	2|1	0|0	TTN|TTN	179245159|179245159	0.000000|0.000000	0.05858|0.05858	0.761000|0.761000	0.31378|0.31378	0.818000|0.818000	0.46254|0.46254	0.086000|0.086000	0.14935|0.14935	1.298000|1.298000	0.44778|0.44778	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	20	1	0	1	1	1	3	20				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			71	76	0	0	0	1	0	71	76				
MAP4	4134	broad.mit.edu	37	3	47908750	47908750	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:47908750G>A	ENST00000360240.6	-	15	3570	c.3052C>T	c.(3052-3054)Cct>Tct	p.P1018S	MAP4_ENST00000426837.2_Missense_Mutation_p.P2163S|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.P1018S|MAP4_ENST00000420772.2_Missense_Mutation_p.P711S|MAP4_ENST00000441748.2_Missense_Mutation_p.P132S|MAP4_ENST00000264724.11_Missense_Mutation_p.P753S	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	1018					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCACCTCCAGGGACATGCTTA	0.448																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(6487-6489)Cct>Tct		microtubule-associated protein 4							178.0	149.0	159.0					3																	47908750		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47908750G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.3052C>T	3.37:g.47908750G>A	ENSP00000353375:p.Pro1018Ser					MAP4_ENST00000395734.3_Missense_Mutation_p.P1018S|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.P1018S|MAP4_ENST00000420772.2_Missense_Mutation_p.P711S|MAP4_ENST00000441748.2_Missense_Mutation_p.P132S|MAP4_ENST00000264724.11_Missense_Mutation_p.P753S	p.P2163S			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	17	6574	-			1018					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.6487C>T	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542406	0.85917	.	.	ENSG00000047849	ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748	D;D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	5.18	5.18	0.71444	.	.	.	.	.	D	0.99315	0.9760	M	0.91510	3.215	0.45777	D	0.998665	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;1.0;0.997;0.999	D	0.99013	1.0815	9	0.87932	D	0	-9.0537	17.6972	0.88285	0.0:0.0:1.0:0.0	.	711;738;1018;1018;2163	F8W9U4;P27816-4;P27816-6;P27816;E7EVA0	.;.;.;MAP4_HUMAN;.	S	753;1018;2163;1018;711;346;132	ENSP00000264724:P753S;ENSP00000379083:P1018S;ENSP00000407602:P2163S;ENSP00000353375:P1018S;ENSP00000409731:P711S;ENSP00000334770:P346S;ENSP00000415130:P132S	ENSP00000264724:P753S	P	-	1	0	MAP4	47883754	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.476000	0.97823	2.413000	0.81919	0.563000	0.77884	CCT		0.448	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		125	146	0	0	0	1	0	125	146				
OR1N1	138883	broad.mit.edu	37	9	125289088	125289088	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:125289088G>A	ENST00000304880.2	-	1	484	c.485C>T	c.(484-486)gCt>gTt	p.A162V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGACAACCGAGCCATGAGGAA	0.512																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(484-486)gCt>gTt		olfactory receptor, family 1, subfamily N, member 1							99.0	83.0	88.0					9																	125289088		2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289088G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.485C>T	9.37:g.125289088G>A	ENSP00000306974:p.Ala162Val						p.A162V	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	484	-			162					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.485C>T	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198290	0.38806	.	.	ENSG00000171505	ENST00000304880	T	0.00069	8.77	3.75	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35466	U	0.003186	T	0.00109	0.0003	N	0.25890	0.77	0.09310	N	1	P	0.45044	0.849	B	0.40982	0.345	T	0.45175	-0.9279	10	0.35671	T	0.21	.	5.7874	0.18340	0.1037:0.0:0.7027:0.1935	.	162	Q8NGS0	OR1N1_HUMAN	V	162	ENSP00000306974:A162V	ENSP00000306974:A162V	A	-	2	0	OR1N1	124328909	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.119000	0.15626	1.979000	0.57680	0.545000	0.68477	GCT		0.512	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			16	96	0	0	0	1	0	16	96				
CHRDL1	91851	broad.mit.edu	37	X	109937508	109937508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:109937508C>A	ENST00000372045.1	-	8	771	c.640G>T	c.(640-642)Gga>Tga	p.G214*	CHRDL1_ENST00000218054.4_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.G221*			Q9BU40	CRDL1_HUMAN	chordin-like 1	214					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GACAGACCTCCAGCCTGTCGG	0.473																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(658-660)Gga>Tga		chordin-like 1							96.0	89.0	91.0					X																	109937508		2203	4300	6503	SO:0001587	stop_gained	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109937508C>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.640G>T	X.37:g.109937508C>A	ENSP00000361115:p.Gly214*					CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.G214*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.G221*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.G220*	p.G220*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			8	854	-			214					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Nonsense_Mutation	SNP	ENST00000372045.1	37	c.658G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.828755	0.96996	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	.	.	.	5.18	5.18	0.71444	.	0.240439	0.41605	D	0.000844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.0573	9.2949	0.37808	0.0:0.8333:0.0:0.1667	.	.	.	.	X	214;141;220;220;221;141;220	.	.	G	-	1	0	CHRDL1	109824164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.638000	0.46562	2.493000	0.84123	0.600000	0.82982	GGA		0.473	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		53	181	1	0	9.55421e-19	1	1.07042e-18	53	181				
SLCO4C1	353189	broad.mit.edu	37	5	101575025	101575025	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:101575025A>G	ENST00000310954.6	-	12	2230	c.1944T>C	c.(1942-1944)aaT>aaC	p.N648N		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTCCACAATCATTTATATCCC	0.343																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1942-1944)aaT>aaC		solute carrier organic anion transporter family, member 4C1							93.0	92.0	92.0					5																	101575025		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101575025A>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1944T>C	5.37:g.101575025A>G							p.N648N	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	12	2230	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	648						Silent	SNP	ENST00000310954.6	37	c.1944T>C	CCDS34205.1																																																																																				0.343	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		21	122	0	0	0	1	0	21	122				
LCE1C	353133	broad.mit.edu	37	1	152777784	152777784	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152777784C>T	ENST00000607093.1	-	1	170	c.171G>A	c.(169-171)ggG>ggA	p.G57G	LCE1C_ENST00000368768.1_Silent_p.G57G			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	57	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCTGCCCCCAGAGCTGG	0.667																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(169-171)ggG>ggA		late cornified envelope 1C							40.0	45.0	43.0					1																	152777784		2202	4299	6501	SO:0001819	synonymous_variant	353133				keratinization			g.chr1:152777784C>T		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.171G>A	1.37:g.152777784C>T						LCE1C_ENST00000607093.1_Silent_p.G57G	p.G57G	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	221	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		57			Gly-rich.			Silent	SNP	ENST00000607093.1	37	c.171G>A	CCDS1026.1																																																																																				0.667	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		82	82	0	0	0	1	0	82	82				
AHNAK	79026	broad.mit.edu	37	11	62297887	62297887	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:62297887C>T	ENST00000378024.4	-	5	4276	c.4002G>A	c.(4000-4002)ggG>ggA	p.G1334G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1334					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATTTTGGCCCCTTAAGAT	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4000-4002)ggG>ggA		AHNAK nucleoprotein							192.0	193.0	192.0					11																	62297887		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297887C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4002G>A	11.37:g.62297887C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G1334G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4276	-		Melanoma(852;0.155)	1334					A1A586	Silent	SNP	ENST00000378024.4	37	c.4002G>A	CCDS31584.1																																																																																				0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	535	0	0	0	1	0	5	535				
KIAA1024	23251	broad.mit.edu	37	15	79750572	79750572	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:79750572C>T	ENST00000305428.3	+	2	2158	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	695						integral component of membrane (GO:0016021)		p.R695W(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAGCCTGCGGGTCAAGGC	0.542																																						ENST00000305428.3																			1	Substitution - Missense(1)	p.R695W(1)	kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2083-2085)Cgg>Tgg		KIAA1024							140.0	137.0	138.0					15																	79750572		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750572C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2083C>T	15.37:g.79750572C>T	ENSP00000307461:p.Arg695Trp						p.R695W	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	2158	+			695					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2083C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528591	0.44969	.	.	ENSG00000169330	ENST00000305428	T	0.36878	1.23	5.68	4.73	0.59995	.	0.249259	0.41938	D	0.000791	T	0.42337	0.1198	M	0.67953	2.075	0.47905	D	0.999542	D	0.65815	0.995	P	0.45474	0.482	T	0.40794	-0.9544	9	.	.	.	.	16.028	0.80555	0.135:0.865:0.0:0.0	.	695	Q9UPX6	K1024_HUMAN	W	695	ENSP00000307461:R695W	.	R	+	1	2	KIAA1024	77537627	1.000000	0.71417	0.077000	0.20336	0.406000	0.30931	1.426000	0.34870	2.681000	0.91329	0.655000	0.94253	CGG		0.542	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		5	286	0	0	0	1	0	5	286				
GFI1	2672	broad.mit.edu	37	1	92941692	92941692	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:92941692C>T	ENST00000370332.1	-	7	1481	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GFI1_ENST00000294702.5_Missense_Mutation_p.R388H|GFI1_ENST00000427103.1_Missense_Mutation_p.R388H	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	388					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGTGTGTTTGCGGCTGTGGGT	0.622																																						ENST00000370332.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1162-1164)cGc>cAc		growth factor independent 1 transcription repressor							70.0	60.0	64.0					1																	92941692		2203	4300	6503	SO:0001583	missense	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92941692C>T	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.1163G>A	1.37:g.92941692C>T	ENSP00000359357:p.Arg388His					GFI1_ENST00000427103.1_Missense_Mutation_p.R388H|GFI1_ENST00000294702.5_Missense_Mutation_p.R388H	p.R388H	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	7	1481	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	388					Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	c.1163G>A	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790457	0.90367	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.25749	1.78;1.78;1.78	5.6	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57602	-0.7783	10	0.87932	D	0	-33.3767	14.2135	0.65779	0.0:0.9283:0.0:0.0717	.	388	Q99684	GFI1_HUMAN	H	388	ENSP00000359357:R388H;ENSP00000399719:R388H;ENSP00000294702:R388H	ENSP00000294702:R388H	R	-	2	0	GFI1	92714280	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.877000	0.69675	1.358000	0.45922	0.655000	0.94253	CGC		0.622	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		20	24	0	0	0	1	0	20	24				
ZAP70	7535	broad.mit.edu	37	2	98349621	98349621	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:98349621C>G	ENST00000264972.5	+	6	951	c.736C>G	c.(736-738)Ctc>Gtc	p.L246V	ZAP70_ENST00000442208.1_Missense_Mutation_p.L120V|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	246	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGGACGGGCTCATCTACTG	0.682																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(736-738)Ctc>Gtc		zeta-chain (TCR) associated protein kinase 70kDa							38.0	40.0	40.0					2																	98349621		2203	4299	6502	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98349621C>G	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.736C>G	2.37:g.98349621C>G	ENSP00000264972:p.Leu246Val					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.L120V	p.L246V	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			6	951	+			246			SH2 2.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.736C>G	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053587	0.75960	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	D;D	0.94457	-3.43;-3.43	5.34	5.34	0.76211	SH2 motif (2);	0.000000	0.44483	D	0.000447	D	0.95956	0.8683	M	0.92555	3.32	0.54753	D	0.999988	D;P	0.53745	0.962;0.87	P;B	0.46917	0.531;0.259	D	0.96276	0.9202	10	0.87932	D	0	.	11.9349	0.52868	0.1738:0.8262:0.0:0.0	.	120;246	P43403-3;P43403	.;ZAP70_HUMAN	V	246;120	ENSP00000264972:L246V;ENSP00000411141:L120V	ENSP00000264972:L246V	L	+	1	0	ZAP70	97716053	0.998000	0.40836	1.000000	0.80357	0.793000	0.44817	2.060000	0.41394	2.658000	0.90341	0.655000	0.94253	CTC		0.682	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			3	75	0	0	0	1	0	3	75				
TAX1BP1	8887	broad.mit.edu	37	7	27856589	27856589	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:27856589G>A	ENST00000396319.2	+	15	2105	c.2017G>A	c.(2017-2019)Gtt>Att	p.V673I	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V697I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V631I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V474I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V631I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	673					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GGAAGACAATGTTGTCTGCAG	0.453																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2017-2019)Gtt>Att		Tax1 (human T-cell leukemia virus type I) binding protein 1							81.0	82.0	82.0					7																	27856589		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856589G>A	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2017G>A	7.37:g.27856589G>A	ENSP00000379612:p.Val673Ile					TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V474I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V631I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V631I|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V697I	p.V673I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		15	2105	+			673					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.2017G>A	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970588	0.92919	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	T;T;T;T;T	0.54279	1.87;1.87;2.44;0.58;2.44	5.91	5.91	0.95273	.	0.000000	0.48286	D	0.000196	T	0.74107	0.3673	M	0.69823	2.125	0.49299	D	0.99977	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.99;0.997;0.998	T	0.74592	-0.3614	10	0.72032	D	0.01	-16.8094	20.2963	0.98556	0.0:0.0:1.0:0.0	.	474;673;631	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	I	631;631;697;474;673;210	ENSP00000444811:V631I;ENSP00000265393:V631I;ENSP00000386515:V697I;ENSP00000391907:V474I;ENSP00000379612:V673I	ENSP00000265393:V631I	V	+	1	0	TAX1BP1	27823114	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.539000	0.82063	2.813000	0.96785	0.655000	0.94253	GTT		0.453	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		31	264	0	0	0	1	0	31	264				
CLCN5	1184	broad.mit.edu	37	X	49851213	49851213	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:49851213C>T	ENST00000307367.2	+	8	1324	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	CLCN5_ENST00000376108.3_Missense_Mutation_p.R345W|CLCN5_ENST00000376091.3_Missense_Mutation_p.R415W|CLCN5_ENST00000376088.3_Missense_Mutation_p.R415W			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	345					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGCCTGGTGTCGGAAGCGAAA	0.522																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(1243-1245)Cgg>Tgg		chloride channel, voltage-sensitive 5							107.0	83.0	91.0					X																	49851213		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49851213C>T	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1033C>T	X.37:g.49851213C>T	ENSP00000304257:p.Arg345Trp					CLCN5_ENST00000376108.3_Missense_Mutation_p.R345W|CLCN5_ENST00000376091.3_Missense_Mutation_p.R415W|CLCN5_ENST00000307367.2_Missense_Mutation_p.R345W	p.R415W	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			11	1884	+	Ovarian(276;0.236)		345					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1243C>T	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131438	0.77549	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.7	5.7	0.88788	Chloride channel, core (2);	0.053343	0.85682	D	0.000000	D	0.98036	0.9353	H	0.95850	3.73	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.62382	0.901;0.653	D	0.99282	1.0896	10	0.87932	D	0	-1.0247	17.5228	0.87792	0.0:1.0:0.0:0.0	.	345;415	P51795;P51795-2	CLCN5_HUMAN;.	W	415;247;415;345;345	ENSP00000365256:R415W;ENSP00000365259:R415W;ENSP00000365276:R345W;ENSP00000304257:R345W	ENSP00000304257:R345W	R	+	1	2	CLCN5	49737953	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.440000	0.44855	2.408000	0.81797	0.436000	0.28706	CGG		0.522	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			68	81	0	0	0	1	0	68	81				
C14orf37	145407	broad.mit.edu	37	14	58605952	58605952	+	Missense_Mutation	SNP	G	G	A	rs199836120		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr14:58605952G>A	ENST00000267485.7	-	2	319	c.125C>T	c.(124-126)gCg>gTg	p.A42V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	42						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCCTTTTTCCGCATGAACATG	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		20214	0.001		0.0	False		,,,				2504	0.0					ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(124-126)gCg>gTg		chromosome 14 open reading frame 37							239.0	238.0	238.0					14																	58605952		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605952G>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.125C>T	14.37:g.58605952G>A	ENSP00000267485:p.Ala42Val					C14orf37_ENST00000334342.5_5'UTR	p.A42V	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	319	-			42					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.125C>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646575	0.47258	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.39406	1.08	4.33	-2.45	0.06481	.	0.819564	0.10767	N	0.636456	T	0.19604	0.0471	L	0.38531	1.155	0.19775	N	0.999952	B;P;B;B	0.45902	0.35;0.868;0.35;0.35	B;B;B;B	0.23852	0.029;0.049;0.029;0.029	T	0.12372	-1.0550	10	0.54805	T	0.06	-0.1835	3.9844	0.09509	0.2365:0.0:0.3674:0.3961	.	80;42;42;42	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	V	42;80	ENSP00000267485:A42V	ENSP00000267485:A42V	A	-	2	0	C14orf37	57675705	0.000000	0.05858	0.019000	0.16419	0.733000	0.41908	-0.117000	0.10708	-0.655000	0.05387	0.655000	0.94253	GCG		0.473	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		5	401	0	0	0	1	0	5	401				
CAPRIN2	65981	broad.mit.edu	37	12	30882096	30882096	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:30882096C>A	ENST00000395805.2	-	8	1815	c.1268G>T	c.(1267-1269)tGg>tTg	p.W423L	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.W423L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W423L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W90L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W423L|CAPRIN2_ENST00000538387.1_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGAAGCCTCCCAGGACTTAAA	0.468																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1267-1269)tGg>tTg		caprin family member 2							106.0	102.0	103.0					12																	30882096		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30882096C>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1268G>T	12.37:g.30882096C>A	ENSP00000379150:p.Trp423Leu					CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W423L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W423L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W90L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W423L	p.W423L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			8	2018	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		423						Missense_Mutation	SNP	ENST00000395805.2	37	c.1268G>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170764	0.57584	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.75704	2.38;-0.7;2.79;-0.63;-0.96;2.82;2.41	4.94	4.94	0.65067	.	0.156567	0.30142	N	0.010316	T	0.74764	0.3759	N	0.19112	0.55	0.38103	D	0.937333	B;D;B;B;B;B;B	0.89917	0.181;1.0;0.114;0.181;0.06;0.012;0.016	B;D;B;B;B;B;B	0.85130	0.122;0.997;0.057;0.122;0.018;0.016;0.007	T	0.73139	-0.4077	10	0.23891	T	0.37	-3.5658	12.6719	0.56872	0.1645:0.8355:0.0:0.0	.	423;149;423;423;423;423;423	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	L	169;423;423;423;90;423;149;342	ENSP00000415407:W169L;ENSP00000298892:W423L;ENSP00000379150:W423L;ENSP00000251071:W423L;ENSP00000309785:W90L;ENSP00000391479:W423L;ENSP00000438010:W342L	ENSP00000251071:W423L	W	-	2	0	CAPRIN2	30773363	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.859000	0.48364	2.443000	0.82685	0.655000	0.94253	TGG		0.468	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		58	181	1	0	1.27334e-21	1	1.43994e-21	58	181				
TGOLN2	10618	broad.mit.edu	37	2	85554507	85554507	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:85554507C>T	ENST00000409232.3	-	2	409	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000377386.3_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGTGGTCTGCGCCTCCGAAC	0.572																																						ENST00000377386.3																			0											c.(346-348)gcG>gcA		trans-golgi network protein 2							384.0	382.0	383.0					2																	85554507		1999	4165	6164	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554507C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.348G>A	2.37:g.85554507C>T						TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000409232.3_Silent_p.A116A	p.A116A			O43493	TGON2_HUMAN			2	810	-			116			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.348G>A	CCDS56126.1																																																																																				0.572	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		8	1409	0	0	0	1	0	8	1409				
GPATCH1	55094	broad.mit.edu	37	19	33581715	33581715	+	Nonsense_Mutation	SNP	C	C	T	rs144223467	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:33581715C>T	ENST00000170564.2	+	3	552	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	80					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGTGTCTTCACGACAGAACAG	0.388																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(238-240)Cga>Tga		G patch domain containing 1							119.0	103.0	108.0					19																	33581715		2203	4300	6503	SO:0001587	stop_gained	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33581715C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.238C>T	19.37:g.33581715C>T	ENSP00000170564:p.Arg80*						p.R80*	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			3	552	+	Esophageal squamous(110;0.137)		80					Q8IZV6|Q8N3B7|Q9NW94	Nonsense_Mutation	SNP	ENST00000170564.2	37	c.238C>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	40	8.005463	0.98605	.	.	ENSG00000076650	ENST00000170564	.	.	.	5.95	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1459	15.6427	0.77020	0.2673:0.7327:0.0:0.0	.	.	.	.	X	80	.	ENSP00000170564:R80X	R	+	1	2	GPATCH1	38273555	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.396000	0.52565	1.466000	0.48025	0.655000	0.94253	CGA		0.388	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		4	273	0	0	0	1	0	4	273				
MYH4	4622	broad.mit.edu	37	17	10356568	10356568	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10356568C>G	ENST00000255381.2	-	24	3122	c.3012G>C	c.(3010-3012)caG>caC	p.Q1004H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1004					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)			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						GGTGGGCCTCCTGGAGAGCCT	0.498																																						ENST00000255381.2																			0				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.(3010-3012)caG>caC		myosin, heavy chain 4, skeletal muscle							233.0	215.0	221.0					17																	10356568		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356568C>G		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.3012G>C	17.37:g.10356568C>G	ENSP00000255381:p.Gln1004His					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q1004H	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			24	3122	-			1004						Missense_Mutation	SNP	ENST00000255381.2	37	c.3012G>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717223	0.30413	.	.	ENSG00000141048	ENST00000255381	D	0.89415	-2.51	5.19	-5.65	0.02459	.	0.000000	0.36101	U	0.002783	D	0.90331	0.6975	H	0.94503	3.545	0.44843	D	0.997858	B	0.28128	0.201	B	0.25614	0.062	T	0.78760	-0.2078	10	0.87932	D	0	.	17.4903	0.87701	0.0:0.6973:0.0:0.3027	.	1004	Q9Y623	MYH4_HUMAN	H	1004	ENSP00000255381:Q1004H	ENSP00000255381:Q1004H	Q	-	3	2	MYH4	10297293	0.107000	0.21998	0.909000	0.35828	0.979000	0.70002	-0.499000	0.06413	-1.174000	0.02754	-0.469000	0.05056	CAG		0.498	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		7	534	0	0	0	1	0	7	534				
LRP1	4035	broad.mit.edu	37	12	57575037	57575037	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:57575037C>T	ENST00000243077.3	+	34	6091	c.5625C>T	c.(5623-5625)gcC>gcT	p.A1875A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1875	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGCACAGCCGGCTATAGCC	0.642																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5623-5625)gcC>gcT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						75.0	69.0	71.0					12																	57575037		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57575037C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5625C>T	12.37:g.57575037C>T							p.A1875A	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	34	6091	+			1875			EGF-like 8.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5625C>T	CCDS8932.1																																																																																				0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		47	88	0	0	0	1	0	47	88				
PTCD2	79810	broad.mit.edu	37	5	71616216	71616216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:71616216C>T	ENST00000380639.5	+	1	23	c.7C>T	c.(7-9)Cga>Tga	p.R3*	MRPS27_ENST00000513900.1_5'Flank|PTCD2_ENST00000536805.1_5'Flank|MRPS27_ENST00000515404.1_5'Flank|PTCD2_ENST00000543322.1_Nonsense_Mutation_p.R3*|MRPS27_ENST00000261413.5_5'Flank|MRPS27_ENST00000457646.4_5'Flank|PTCD2_ENST00000503868.1_Nonsense_Mutation_p.R3*|MRPS27_ENST00000522095.1_5'Flank	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	3					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TGGTATGGTCCGAGACAGTAT	0.612																																						ENST00000380639.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(7-9)Cga>Tga		pentatricopeptide repeat domain 2							50.0	58.0	55.0					5																	71616216		2194	4292	6486	SO:0001587	stop_gained	79810							g.chr5:71616216C>T	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.7C>T	5.37:g.71616216C>T	ENSP00000370013:p.Arg3*					PTCD2_ENST00000503868.1_Nonsense_Mutation_p.R3*|PTCD2_ENST00000543322.1_Nonsense_Mutation_p.R3*	p.R3*	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	1	23	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	3					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Nonsense_Mutation	SNP	ENST00000380639.5	37	c.7C>T	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	C	30	5.051027	0.93740	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	.	.	.	5.4	0.262	0.15597	.	1.084470	0.07128	N	0.845006	.	.	.	.	.	.	0.20821	N	0.999842	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2487	0.01978	0.155:0.441:0.1507:0.2534	.	.	.	.	X	3	.	ENSP00000308948:R3X	R	+	1	2	PTCD2	71651972	0.000000	0.05858	0.014000	0.15608	0.027000	0.11550	-0.072000	0.11486	0.109000	0.17891	0.561000	0.74099	CGA		0.612	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		4	106	0	0	0	1	0	4	106				
RS1	6247	broad.mit.edu	37	X	18660259	18660259	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:18660259C>T	ENST00000379984.3	-	6	580	c.540G>A	c.(538-540)tcG>tcA	p.S180S	CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	180	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGGTGCGGTCCGAGTTGCCAT	0.587																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(538-540)tcG>tcA		retinoschisin 1							80.0	70.0	73.0					X																	18660259		2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660259C>T	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.540G>A	X.37:g.18660259C>T						CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	p.S180S	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			6	580	-	Hepatocellular(33;0.183)		180			F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.540G>A	CCDS14187.1																																																																																				0.587	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			44	144	0	0	0	1	0	44	144				
ZNF676	163223	broad.mit.edu	37	19	22363970	22363970	+	Silent	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:22363970G>T	ENST00000397121.2	-	3	866	c.549C>A	c.(547-549)acC>acA	p.T183T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	183				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATAAGTAAGGGTTGAGGACC	0.348																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(547-549)acC>acA		zinc finger protein 676							53.0	56.0	55.0					19																	22363970		2010	4210	6220	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363970G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.549C>A	19.37:g.22363970G>T							p.T183T	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	866	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	183	TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).				A8MVX5	Silent	SNP	ENST00000397121.2	37	c.549C>A	CCDS42539.1																																																																																				0.348	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		23	148	1	0	2.98393e-07	1	3.22371e-07	23	148				
ULBP3	79465	broad.mit.edu	37	6	150387113	150387113	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:150387113G>T	ENST00000367339.2	-	2	302	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	ULBP3_ENST00000438272.2_Missense_Mutation_p.L92M			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	92	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		AGCATTTCCAGTTGTTTTCCC	0.507																																						ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(274-276)Ctg>Atg		UL16 binding protein 3							166.0	165.0	165.0					6																	150387113		2203	4300	6503	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150387113G>T	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.274C>A	6.37:g.150387113G>T	ENSP00000356308:p.Leu92Met					ULBP3_ENST00000438272.2_Missense_Mutation_p.L92M	p.L92M			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	2	302	-		Ovarian(120;0.12)	92			MHC class I alpha-1 like.		Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.274C>A	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	g	4.052	0.007282	0.07866	.	.	ENSG00000131019	ENST00000399812;ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.00717	5.79;5.79	3.49	-6.99	0.01605	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00210	0.0006	N	0.25647	0.755	0.09310	N	1	B;B	0.32781	0.384;0.384	B;B	0.39771	0.309;0.309	T	0.40534	-0.9558	9	0.45353	T	0.12	0.2791	1.763	0.02996	0.2716:0.2369:0.36:0.1314	.	92;92	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	M	43;92;92;92	ENSP00000356308:L92M;ENSP00000403562:L92M	ENSP00000253335:L92M	L	-	1	2	ULBP3	150428806	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.588000	0.02106	-3.569000	0.00139	-4.280000	0.00008	CTG		0.507	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			61	201	1	0	2.18419e-29	1	2.49328e-29	61	201				
FAM209B	388799	broad.mit.edu	37	20	55108405	55108405	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr20:55108405C>G	ENST00000371325.1	+	1	104	c.8C>G	c.(7-9)aCg>aGg	p.T3R		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	3						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											ACCATGTGGACGCTGAAATCG	0.562																																						ENST00000371325.1																			0											c.(7-9)aCg>aGg		family with sequence similarity 209, member B							89.0	84.0	86.0					20																	55108405		2203	4296	6499	SO:0001583	missense	388799					integral to membrane		g.chr20:55108405C>G	AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.8C>G	20.37:g.55108405C>G	ENSP00000360376:p.Thr3Arg						p.T3R	NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN			1	104	+			3					Q3KRB5	Missense_Mutation	SNP	ENST00000371325.1	37	c.8C>G	CCDS33494.1	.	.	.	.	.	.	.	.	.	.	C	7.278	0.608548	0.14002	.	.	ENSG00000213714	ENST00000371325	T	0.09073	3.02	2.82	-3.06	0.05379	.	0.785155	0.11046	N	0.605532	T	0.11965	0.0291	L	0.55481	1.735	0.09310	N	0.999996	D	0.59357	0.985	P	0.50934	0.654	T	0.12192	-1.0557	10	0.72032	D	0.01	-6.7223	7.6774	0.28494	0.0:0.3359:0.0:0.6641	.	3	Q5JX69	CT107_HUMAN	R	3	ENSP00000360376:T3R	ENSP00000360376:T3R	T	+	2	0	C20orf107	54541812	0.022000	0.18835	0.511000	0.27724	0.079000	0.17450	-1.087000	0.03383	-0.577000	0.05967	-0.501000	0.04562	ACG		0.562	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			24	147	0	0	0	1	0	24	147				
RMI1	80010	broad.mit.edu	37	9	86617400	86617400	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:86617400G>A	ENST00000325875.3	+	3	1831	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	500					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTAATGGCCAGCAAACCAAAG	0.363																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1498-1500)aGc>aAc		RecQ mediated genome instability 1							122.0	125.0	124.0					9																	86617400		2203	4300	6503	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86617400G>A	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1499G>A	9.37:g.86617400G>A	ENSP00000317039:p.Ser500Asn						p.S500N	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1831	+			500					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1499G>A	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	8.911	0.958680	0.18507	.	.	ENSG00000178966	ENST00000325875	T	0.32988	1.43	5.29	1.37	0.22104	.	0.579815	0.19807	N	0.105603	T	0.16938	0.0407	N	0.19112	0.55	0.22811	N	0.998705	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	9	.	.	.	-0.6371	9.7214	0.40306	0.3665:0.0:0.6335:0.0	.	500	Q9H9A7	RMI1_HUMAN	N	500	ENSP00000317039:S500N	.	S	+	2	0	RMI1	85807220	0.943000	0.32029	1.000000	0.80357	0.988000	0.76386	1.300000	0.33436	0.311000	0.23014	0.563000	0.77884	AGC		0.363	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		5	506	0	0	0	1	0	5	506				
SMPD1	6609	broad.mit.edu	37	11	6412705	6412705	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:6412705T>C	ENST00000342245.4	+	2	578	c.410T>C	c.(409-411)gTc>gCc	p.V137A	SMPD1_ENST00000299397.3_Missense_Mutation_p.V137A|SMPD1_ENST00000356761.2_Missense_Mutation_p.V137A|SMPD1_ENST00000527275.1_Missense_Mutation_p.V136A|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	135	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.		L -> P (in NPDB). {ECO:0000269|PubMed:12369017}.		cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CAATCCATTGTCCACCTCTTT	0.602																																						ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(409-411)gTc>gCc		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						79.0	64.0	69.0					11																	6412705		2201	4296	6497	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412705T>C	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.410T>C	11.37:g.6412705T>C	ENSP00000340409:p.Val137Ala					SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.V136A|SMPD1_ENST00000356761.2_Missense_Mutation_p.V137A|SMPD1_ENST00000299397.3_Missense_Mutation_p.V137A	p.V137A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	578	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	135		L -> P (in NPDB).	Saposin B-type.		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.410T>C	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	T	6.415	0.444654	0.12164	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63	5.11	5.11	0.69529	Saposin-like (2);Saposin B (2);	0.272259	0.30930	N	0.008593	D	0.95551	0.8554	L	0.50333	1.59	0.21473	N	0.999673	B;B;B	0.15719	0.0;0.014;0.001	B;B;B	0.19666	0.004;0.026;0.005	D	0.88189	0.2876	10	0.28530	T	0.3	-4.702	12.8539	0.57873	0.0:0.0:0.0:1.0	.	136;137;135	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	A	137;137;137;136	ENSP00000299397:V137A;ENSP00000349203:V137A;ENSP00000340409:V137A;ENSP00000435350:V136A	ENSP00000299397:V137A	V	+	2	0	SMPD1	6369281	0.928000	0.31464	0.735000	0.30896	0.123000	0.20343	4.212000	0.58514	1.929000	0.55896	0.528000	0.53228	GTC		0.602	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		11	37	0	0	0	1	0	11	37				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	p.R175H	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	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		113	5	0	0	0	1	0	113	5				
MYH8	4626	broad.mit.edu	37	17	10303745	10303745	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10303745C>A	ENST00000403437.2	-	27	3791	c.3697G>T	c.(3697-3699)Gac>Tac	p.D1233Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1233					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGCTGAGGTCATCAGTCTCC	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3697-3699)Gac>Tac		myosin, heavy chain 8, skeletal muscle, perinatal							196.0	178.0	184.0					17																	10303745		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10303745C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3697G>T	17.37:g.10303745C>A	ENSP00000384330:p.Asp1233Tyr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.D1233Y	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			27	3791	-			1233					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3697G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121438	0.56613	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81739	-1.53	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.43919	U	0.000515	D	0.93324	0.7872	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94902	0.8057	10	0.87932	D	0	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	1233	P13535	MYH8_HUMAN	Y	1233	ENSP00000384330:D1233Y	ENSP00000252173:D1233Y	D	-	1	0	MYH8	10244470	1.000000	0.71417	0.975000	0.42487	0.312000	0.27988	7.440000	0.80464	2.785000	0.95823	0.655000	0.94253	GAC		0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		83	227	1	0	6.64032e-35	1	7.65218e-35	83	227				
EPX	8288	broad.mit.edu	37	17	56274334	56274334	+	Missense_Mutation	SNP	G	G	A	rs191966823	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:56274334G>A	ENST00000225371.5	+	7	946	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	279					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AAGAACCAGCGTGACTGCATC	0.577													G|||	4	0.000798722	0.0	0.0058	5008	,	,		18722	0.0		0.0	False		,,,				2504	0.0					ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(835-837)cGt>cAt		eosinophil peroxidase							165.0	146.0	153.0					17																	56274334		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274334G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.836G>A	17.37:g.56274334G>A	ENSP00000225371:p.Arg279His						p.R279H	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	946	+			279					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.836G>A	CCDS11602.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.56	1.384645	0.25031	.	.	ENSG00000121053	ENST00000225371	T	0.70045	-0.45	4.86	-4.02	0.04034	.	1.094700	0.06817	N	0.791377	T	0.56262	0.1973	L	0.55017	1.72	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.49409	-0.8943	10	0.45353	T	0.12	-0.2585	6.4044	0.21656	0.5192:0.0:0.3567:0.1242	.	279	P11678	PERE_HUMAN	H	279	ENSP00000225371:R279H	ENSP00000225371:R279H	R	+	2	0	EPX	53629333	0.000000	0.05858	0.004000	0.12327	0.623000	0.37688	-0.164000	0.09983	-0.530000	0.06349	-1.762000	0.00668	CGT		0.577	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		41	309	0	0	0	1	0	41	309				
ALPK2	115701	broad.mit.edu	37	18	56202817	56202817	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56202817C>A	ENST00000361673.3	-	5	4815	c.4602G>T	c.(4600-4602)ttG>ttT	p.L1534F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1534						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						TGGGGGAAATCAATTCTGCTT	0.463																																						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.(4600-4602)ttG>ttT		alpha-kinase 2							110.0	108.0	108.0					18																	56202817		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202817C>A	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.4602G>T	18.37:g.56202817C>A	ENSP00000354991:p.Leu1534Phe					RP11-1151B14.4_ENST00000591360.1_RNA	p.L1534F	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	4815	-			1534					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.4602G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156684	0.21454	.	.	ENSG00000198796	ENST00000361673	T	0.45276	0.9	5.66	-11.3	0.00108	.	725.541000	0.00166	N	0.000000	T	0.23330	0.0564	L	0.33485	1.01	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.17349	-1.0372	10	0.59425	D	0.04	12.6011	0.8085	0.01089	0.3501:0.2836:0.1728:0.1934	.	1529;1534	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	F	1534	ENSP00000354991:L1534F	ENSP00000354991:L1534F	L	-	3	2	ALPK2	54353797	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-4.039000	0.00308	-1.845000	0.01176	-0.457000	0.05445	TTG		0.463	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		24	124	1	0	1.64293e-13	1	1.82381e-13	24	124				
TESPA1	9840	broad.mit.edu	37	12	55367280	55367280	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:55367280C>A	ENST00000449076.1	-	3	319	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.D63Y|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	63					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TGCAGCCAGTCTTCAATTTTA	0.458																																						ENST00000449076.1																			0											c.(187-189)Gac>Tac		thymocyte expressed, positive selection associated 1							100.0	99.0	99.0					12																	55367280		1904	4135	6039	SO:0001583	missense	9840							g.chr12:55367280C>A	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.187G>T	12.37:g.55367280C>A	ENSP00000400892:p.Asp63Tyr					TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.D63Y|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR	p.D63Y	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN			3	319	-			63					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.187G>T	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445893	0.43429	.	.	ENSG00000135426	ENST00000449076;ENST00000316577;ENST00000524668	T;T	0.47528	0.84;0.84	5.34	2.3	0.28687	.	.	.	.	.	T	0.37019	0.0988	L	0.29908	0.895	0.28768	N	0.900527	P	0.48016	0.904	P	0.46253	0.509	T	0.14587	-1.0467	9	0.29301	T	0.29	.	7.1901	0.25821	0.0:0.5805:0.3293:0.0902	.	63	A2RU30	K0748_HUMAN	Y	63	ENSP00000400892:D63Y;ENSP00000312679:D63Y	ENSP00000312679:D63Y	D	-	1	0	KIAA0748	53653547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.839000	0.27586	0.727000	0.32360	0.655000	0.94253	GAC		0.458	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		4	142	1	0	0.150653	1	0.151909	4	142				
MYO18A	399687	broad.mit.edu	37	17	27493471	27493471	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:27493471G>A	ENST00000527372.1	-	2	668	c.488C>T	c.(487-489)cCc>cTc	p.P163L	MYO18A_ENST00000533112.1_Missense_Mutation_p.P163L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P163L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P163L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	163	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGTGGCGAGGGGGCGGCAGA	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(487-489)cCc>cTc		myosin XVIIIA							24.0	30.0	28.0					17																	27493471		2037	4172	6209	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493471G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.488C>T	17.37:g.27493471G>A	ENSP00000437073:p.Pro163Leu					MYO18A_ENST00000354329.4_Missense_Mutation_p.P163L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P163L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P163L	p.P163L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	668	-			163					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.488C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455502	0.43634	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.88509	-2.26;-2.39;-2.28;-2.26	5.24	5.24	0.73138	.	0.255402	0.39475	N	0.001344	D	0.83142	0.5190	N	0.24115	0.695	0.58432	D	0.999999	P;P;P	0.48162	0.717;0.717;0.906	B;B;B	0.41571	0.347;0.347;0.36	T	0.82438	-0.0457	10	0.28530	T	0.3	.	19.012	0.92877	0.0:0.0:1.0:0.0	.	163;163;163	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	L	163	ENSP00000346291:P163L;ENSP00000435932:P163L;ENSP00000434228:P163L;ENSP00000437073:P163L	ENSP00000346291:P163L	P	-	2	0	MYO18A	24517597	1.000000	0.71417	0.949000	0.38748	0.064000	0.16182	7.208000	0.77907	2.724000	0.93272	0.563000	0.77884	CCC		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		6	55	0	0	0	1	0	6	55				
KIF2C	11004	broad.mit.edu	37	1	45223763	45223763	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:45223763A>G	ENST00000372224.4	+	13	1288	c.1175A>G	c.(1174-1176)aAg>aGg	p.K392R	KIF2C_ENST00000372218.4_Missense_Mutation_p.K351R|KIF2C_ENST00000372217.1_Missense_Mutation_p.K338R|KIF2C_ENST00000372222.3_Missense_Mutation_p.K279R|RP11-269F19.2_ENST00000440985.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	392	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGCTACCGGAAGTTGGGCCTG	0.522																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(1012-1014)aAg>aGg		kinesin family member 2C							138.0	130.0	133.0					1																	45223763		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45223763A>G	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1175A>G	1.37:g.45223763A>G	ENSP00000361298:p.Lys392Arg					KIF2C_ENST00000372224.4_Missense_Mutation_p.K392R|KIF2C_ENST00000372218.4_Missense_Mutation_p.K351R|KIF2C_ENST00000372222.3_Missense_Mutation_p.K279R	p.K338R			Q99661	KIF2C_HUMAN			12	1364	+	Acute lymphoblastic leukemia(166;0.155)		392			Kinesin-motor.		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.1013A>G	CCDS512.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555171	0.45487	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.9	0.649	0.17806	Kinesin, motor domain (4);	0.528659	0.22985	N	0.053272	T	0.09905	0.0243	L	0.32530	0.975	0.20703	N	0.999864	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.19666	0.021;0.009;0.026	T	0.22487	-1.0215	10	0.33940	T	0.23	.	2.1144	0.03710	0.4667:0.1234:0.2904:0.1195	.	351;338;392	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	R	392;351;279;338	ENSP00000361298:K392R;ENSP00000361292:K351R;ENSP00000361296:K279R;ENSP00000361291:K338R	ENSP00000361291:K338R	K	+	2	0	KIF2C	44996350	0.071000	0.21146	0.994000	0.49952	0.925000	0.55904	0.717000	0.25851	0.128000	0.18479	0.482000	0.46254	AAG		0.522	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		104	135	0	0	0	1	0	104	135				
SPANXC	64663	broad.mit.edu	37	X	140336553	140336553	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:140336553C>G	ENST00000358993.2	-	1	76	c.38G>C	c.(37-39)aGc>aCc	p.S13T		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	13						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					ACAGGGGACGCTCCTCTTCAC	0.507																																						ENST00000358993.2																			0				large_intestine(2)|lung(3)|pancreas(1)	6						c.(37-39)aGc>aCc		SPANX family, member C							88.0	119.0	109.0					X																	140336553		2197	4292	6489	SO:0001583	missense	64663					cytoplasm|nucleus		g.chrX:140336553C>G	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 3"""	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.38G>C	X.37:g.140336553C>G	ENSP00000351884:p.Ser13Thr						p.S13T	NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN			1	76	-	Acute lymphoblastic leukemia(192;7.65e-05)		13					Q32WL9|Q5JX88	Missense_Mutation	SNP	ENST00000358993.2	37	c.38G>C	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	c	9.374	1.071330	0.20147	.	.	ENSG00000198573	ENST00000358993	T	0.08102	3.13	.	.	.	.	.	.	.	.	T	0.18718	0.0449	M	0.63428	1.95	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.09250	-1.0683	7	0.56958	D	0.05	.	.	.	.	.	13	Q9NY87	SPNXC_HUMAN	T	13	ENSP00000351884:S13T	ENSP00000351884:S13T	S	-	2	0	SPANXC	140164219	0.172000	0.23043	0.001000	0.08648	0.001000	0.01503	-1.340000	0.02650	-0.728000	0.04882	-0.715000	0.03620	AGC		0.507	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	NM_022661		5	230	0	0	0	1	0	5	230				
THBS3	7059	broad.mit.edu	37	1	155166890	155166890	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:155166890G>A	ENST00000368378.3	-	21	2634	c.2614C>T	c.(2614-2616)Cgg>Tgg	p.R872W	RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R401W|THBS3_ENST00000457183.2_Missense_Mutation_p.R752W|THBS3_ENST00000541576.1_Missense_Mutation_p.R269W|RP11-263K19.4_ENST00000436772.1_RNA|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	872	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCTTGTCCCGCCAGCCCACA	0.622																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2614-2616)Cgg>Tgg		thrombospondin 3							90.0	80.0	83.0					1																	155166890		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155166890G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2614C>T	1.37:g.155166890G>A	ENSP00000357362:p.Arg872Trp					THBS3_ENST00000541990.1_Missense_Mutation_p.R401W|THBS3_ENST00000541576.1_Missense_Mutation_p.R269W|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000487250.1_Intron|THBS3_ENST00000457183.2_Missense_Mutation_p.R752W	p.R872W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		21	2634	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		872			TSP C-terminal.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2614C>T	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908421	0.72868	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.54	3.6	0.41247	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.374331	0.22104	N	0.064572	D	0.88633	0.6489	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.61658	0.892;0.849;0.849;0.849	D	0.89704	0.3907	10	0.87932	D	0	-10.671	9.8486	0.41043	0.0:0.0:0.627:0.373	.	752;872;872;872	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	W	872;269;752;401	ENSP00000357362:R872W;ENSP00000444792:R269W;ENSP00000392207:R752W;ENSP00000437353:R401W	ENSP00000357362:R872W	R	-	1	2	THBS3	153433514	0.998000	0.40836	0.996000	0.52242	0.963000	0.63663	2.659000	0.46741	1.237000	0.43756	0.591000	0.81541	CGG		0.622	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		4	133	0	0	0	1	0	4	133				
PRICKLE1	144165	broad.mit.edu	37	12	42854058	42854058	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:42854058G>A	ENST00000455697.1	-	8	2334	c.2049C>T	c.(2047-2049)tcC>tcT	p.S683S	PRICKLE1_ENST00000552240.1_Silent_p.S683S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Silent_p.S683S|PRICKLE1_ENST00000345127.3_Silent_p.S683S|PRICKLE1_ENST00000445766.2_Silent_p.S683S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	683					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGGCATTGTCGGAGCGGGACT	0.483																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2047-2049)tcC>tcT		prickle homolog 1 (Drosophila)							58.0	60.0	59.0					12																	42854058		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854058G>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2049C>T	12.37:g.42854058G>A						PRICKLE1_ENST00000548696.1_Silent_p.S683S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Silent_p.S683S|PRICKLE1_ENST00000445766.2_Silent_p.S683S|PRICKLE1_ENST00000345127.3_Silent_p.S683S	p.S683S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2334	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		683					Q14C83|Q71QF8|Q96N00	Silent	SNP	ENST00000455697.1	37	c.2049C>T	CCDS8742.1																																																																																				0.483	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			4	175	0	0	0	1	0	4	175				
PLA2R1	22925	broad.mit.edu	37	2	160862319	160862319	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:160862319A>T	ENST00000283243.7	-	11	1884	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.F560I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	560	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGGTAATAAAAGCCTGTTCA	0.363																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1678-1680)Ttt>Att		phospholipase A2 receptor 1, 180kDa							89.0	95.0	93.0					2																	160862319		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160862319A>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1678T>A	2.37:g.160862319A>T	ENSP00000283243:p.Phe560Ile					PLA2R1_ENST00000392771.1_Missense_Mutation_p.F560I	p.F560I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			11	1884	-			560			C-type lectin 3.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.1678T>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459221	0.84317	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.12147	2.71;2.71	5.06	5.06	0.68205	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	M	0.94142	3.5	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.63314	-0.6665	10	0.54805	T	0.06	.	15.1037	0.72303	1.0:0.0:0.0:0.0	.	560;560;560	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	I	560	ENSP00000283243:F560I;ENSP00000376524:F560I	ENSP00000283243:F560I	F	-	1	0	PLA2R1	160570565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.387000	0.73191	2.034000	0.60081	0.482000	0.46254	TTT		0.363	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			102	164	0	0	0	1	0	102	164				
LRP6	4040	broad.mit.edu	37	12	12279789	12279789	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:12279789G>A	ENST00000261349.4	-	20	4224	c.4148C>T	c.(4147-4149)aCc>aTc	p.T1383I	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.T1338I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1383					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CACAAAAATGGTGACAATTAC	0.408																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4147-4149)aCc>aTc		low density lipoprotein receptor-related protein 6							128.0	115.0	120.0					12																	12279789		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12279789G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4148C>T	12.37:g.12279789G>A	ENSP00000261349:p.Thr1383Ile					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.T1338I	p.T1383I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			20	4224	-		Prostate(47;0.0865)	1383					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4148C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933824	0.73442	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	T;T	0.40476	1.03;1.03	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	T	0.37972	0.1023	L	0.34521	1.04	0.80722	D	1	B;B	0.33238	0.403;0.026	B;B	0.36418	0.224;0.033	T	0.07809	-1.0753	10	0.21540	T	0.41	.	19.8402	0.96679	0.0:0.0:1.0:0.0	.	1338;1383	F5H7J9;O75581	.;LRP6_HUMAN	I	1383;1338	ENSP00000261349:T1383I;ENSP00000442472:T1338I	ENSP00000261349:T1383I	T	-	2	0	LRP6	12171056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.751000	0.94390	0.563000	0.77884	ACC		0.408	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			35	158	0	0	0	1	0	35	158				
NXPE4	54827	broad.mit.edu	37	11	114441697	114441697	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:114441697C>T	ENST00000375478.3	-	6	1778	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	NXPE4_ENST00000424261.2_Missense_Mutation_p.G249E	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	533						extracellular vesicular exosome (GO:0070062)											AATCTGATTTCCGACTACATG	0.313																																						ENST00000375478.3																			0											c.(1597-1599)gGa>gAa		neurexophilin and PC-esterase domain family, member 4							74.0	64.0	67.0					11																	114441697		1810	4077	5887	SO:0001583	missense	54827							g.chr11:114441697C>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1598G>A	11.37:g.114441697C>T	ENSP00000364627:p.Gly533Glu					NXPE4_ENST00000424261.2_Missense_Mutation_p.G249E	p.G533E	NM_001077639.1	NP_001071107.1					6	1778	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1598G>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	0.400	-0.919023	0.02396	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.20332	2.08;2.08	5.61	1.64	0.23874	.	0.553031	0.18226	N	0.147711	T	0.08758	0.0217	N	0.11698	0.16	0.09310	N	0.999992	B	0.14805	0.011	B	0.17979	0.02	T	0.40553	-0.9557	10	0.02654	T	1	.	8.1622	0.31204	0.0:0.6011:0.0:0.3989	.	533	Q6UWF7	FA55D_HUMAN	E	249;533	ENSP00000401503:G249E;ENSP00000364627:G533E	ENSP00000364627:G533E	G	-	2	0	FAM55D	113946907	0.000000	0.05858	0.086000	0.20670	0.020000	0.10135	-0.669000	0.05262	0.114000	0.18032	0.655000	0.94253	GGA		0.313	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		33	132	0	0	0	1	0	33	132				
GGT1	2678	broad.mit.edu	37	22	24985856	24985856	+	Intron	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr22:24985856T>C	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Missense_Mutation_p.N80S|FAM211B_ENST00000495297.1_5'UTR	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GTCGACCGGGTTGAGGAAGGC	0.627																																						ENST00000318753.8																			0											c.(238-240)aAc>aGc		family with sequence similarity 211, member B							64.0	68.0	67.0					22																	24985856		1980	4168	6148	SO:0001627	intron_variant	388886							g.chr22:24985856T>C	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+6080T>C	22.37:g.24985856T>C						GGT1_ENST00000248923.4_Intron|FAM211B_ENST00000495297.1_5'UTR	p.N80S	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			2	262	-			80					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.239A>G	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719022	0.48622	.	.	ENSG00000178026	ENST00000318753	T	0.55588	0.51	4.15	1.94	0.25998	.	0.000000	0.85682	U	0.000000	T	0.46908	0.1417	M	0.73962	2.25	0.37349	D	0.910712	P	0.40332	0.713	B	0.36464	0.225	T	0.50482	-0.8823	10	0.62326	D	0.03	.	6.4588	0.21944	0.0:0.0879:0.1569:0.7553	.	80	Q2VPJ9	LRC6X_HUMAN	S	80	ENSP00000320520:N80S	ENSP00000320520:N80S	N	-	2	0	C22orf36	23315856	1.000000	0.71417	0.057000	0.19452	0.463000	0.32649	3.327000	0.52045	0.215000	0.20761	0.448000	0.29417	AAC		0.627	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		20	24	0	0	0	1	0	20	24				
DOCK9	23348	broad.mit.edu	37	13	99532924	99532924	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:99532924G>A	ENST00000376460.1	-	26	2828	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y	DOCK9_ENST00000448493.2_Silent_p.Y928Y|DOCK9_ENST00000339416.2_Silent_p.Y917Y|DOCK9_ENST00000442173.1_Silent_p.Y916Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	917					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTATACGCGTACTTTGAAG	0.463																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2746-2748)taC>taT		dedicator of cytokinesis 9							100.0	93.0	95.0					13																	99532924		1962	4156	6118	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99532924G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2748C>T	13.37:g.99532924G>A						DOCK9_ENST00000339416.2_Silent_p.Y917Y|DOCK9_ENST00000448493.2_Silent_p.Y928Y|DOCK9_ENST00000442173.1_Silent_p.Y916Y	p.Y916Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			26	2828	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		917					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.2748C>T	CCDS45062.1																																																																																				0.463	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		21	33	0	0	0	1	0	21	33				
LRRC39	127495	broad.mit.edu	37	1	100621829	100621829	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:100621829G>A	ENST00000370137.1	-	7	756	c.558C>T	c.(556-558)aaC>aaT	p.N186N	LRRC39_ENST00000370138.1_Silent_p.N186N|LRRC39_ENST00000342895.3_Silent_p.N186N	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	186										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TAGTAAAATCGTTCATACTCA	0.383																																						ENST00000370138.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(556-558)aaC>aaT		leucine rich repeat containing 39							112.0	103.0	106.0					1																	100621829		2203	4300	6503	SO:0001819	synonymous_variant	127495							g.chr1:100621829G>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.558C>T	1.37:g.100621829G>A						LRRC39_ENST00000370137.1_Silent_p.N186N|LRRC39_ENST00000342895.3_Silent_p.N186N	p.N186N	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	7	756	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	186					B3KUD2|D3DT56|Q5VVK7	Silent	SNP	ENST00000370137.1	37	c.558C>T	CCDS766.1																																																																																				0.383	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		5	110	0	0	0	1	0	5	110				
FLG2	388698	broad.mit.edu	37	1	152324115	152324115	+	Silent	SNP	G	G	A	rs146074268	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152324115G>A	ENST00000388718.5	-	3	6219	c.6147C>T	c.(6145-6147)caC>caT	p.H2049H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2049					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCATGAGCGTGTCCTGAAT	0.532																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6145-6147)caC>caT		filaggrin family member 2		G		1,4405	2.1+/-5.4	0,1,2202	502.0	455.0	471.0		6147	-1.8	0.0	1	dbSNP_134	471	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG2	NM_001014342.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		2049/2392	152324115	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324115G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6147C>T	1.37:g.152324115G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H2049H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6219	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2049					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6147C>T	CCDS30861.1																																																																																				0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		15	969	0	0	0	1	0	15	969				
RPL23AP53	644128	broad.mit.edu	37	8	163476	163476	+	RNA	SNP	G	G	A	rs146807239	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:163476G>A	ENST00000606975.1	-	0	445									ribosomal protein L23a pseudogene 53																		AGTGGTCAGCGGAAACTTGAT	0.527													.|||	86	0.0171725	0.0628	0.0043	5008	,	,		16337	0.0		0.0	False		,,,				2504	0.0					ENST00000606975.1																			0																																																			0							g.chr8:163476G>A			8p23.3	2014-06-17			ENSG00000223508	ENSG00000223508			35921	pseudogene	pseudogene						19123937	Standard	NR_003572		Approved		uc010lrb.4				8.37:g.163476G>A														0	445	-									RNA	SNP	ENST00000606975.1	37																																																																																						0.527	RPL23AP53-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470409.1	NR_003572		4	160	0	0	0	1	0	4	160				
SPTBN1	6711	broad.mit.edu	37	2	54877008	54877008	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:54877008G>A	ENST00000356805.4	+	26	5740	c.5459G>A	c.(5458-5460)cGt>cAt	p.R1820H	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R1807H	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1820	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ATCTTTGGGCGTATACAGGAC	0.483																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(5419-5421)cGt>cAt		spectrin, beta, non-erythrocytic 1							89.0	87.0	88.0					2																	54877008		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54877008G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5459G>A	2.37:g.54877008G>A	ENSP00000349259:p.Arg1820His					SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1820H	p.R1807H	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		25	5805	+			1820			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.5420G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520903	0.96416	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.50001	0.76;0.76	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.76727	2.345	0.80722	D	1	B;B	0.32781	0.148;0.384	B;B	0.23852	0.019;0.049	T	0.52533	-0.8563	10	0.49607	T	0.09	.	20.2932	0.98544	0.0:0.0:1.0:0.0	.	1807;1820	Q01082-3;Q01082	.;SPTB2_HUMAN	H	1820;1807	ENSP00000349259:R1820H;ENSP00000334156:R1807H	ENSP00000334156:R1807H	R	+	2	0	SPTBN1	54730512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.756000	0.85195	2.803000	0.96430	0.555000	0.69702	CGT		0.483	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			4	141	0	0	0	1	0	4	141				
ZW10	9183	broad.mit.edu	37	11	113607355	113607355	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:113607355C>T	ENST00000200135.3	-	15	2350	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	736					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCCCCAATTTCTTGCAAGCTG	0.413																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(2206-2208)Gaa>Aaa		zw10 kinetochore protein							279.0	252.0	262.0					11																	113607355		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113607355C>T	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2206G>A	11.37:g.113607355C>T	ENSP00000200135:p.Glu736Lys						p.E736K	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	15	2350	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	736					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.2206G>A	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142754	0.94560	.	.	ENSG00000086827	ENST00000200135	T	0.52983	0.64	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.73598	2.24	0.80722	D	1	P	0.43314	0.803	P	0.48952	0.596	T	0.62416	-0.6859	10	0.56958	D	0.05	-19.1874	20.8599	0.99761	0.0:1.0:0.0:0.0	.	736	O43264	ZW10_HUMAN	K	736	ENSP00000200135:E736K	ENSP00000200135:E736K	E	-	1	0	ZW10	113112565	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.484000	0.81180	2.937000	0.99478	0.650000	0.86243	GAA		0.413	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		83	288	0	0	0	1	0	83	288				
HS6ST3	266722	broad.mit.edu	37	13	97485304	97485304	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:97485304A>G	ENST00000376705.2	+	2	1292	c.1268A>G	c.(1267-1269)aAg>aGg	p.K423R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	423					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CACCACACCAAGCAGCTAGAG	0.592																																						ENST00000376705.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(1267-1269)aAg>aGg		heparan sulfate 6-O-sulfotransferase 3							79.0	80.0	80.0					13																	97485304		2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97485304A>G	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1268A>G	13.37:g.97485304A>G	ENSP00000365895:p.Lys423Arg						p.K423R	NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN			2	1292	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		423					Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.1268A>G	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	A	4.933	0.173422	0.09391	.	.	ENSG00000185352	ENST00000376705	D	0.82255	-1.59	5.89	3.5	0.40072	.	0.114703	0.56097	D	0.000034	T	0.50667	0.1629	N	0.01048	-1.04	0.38315	D	0.943354	B	0.12013	0.005	B	0.08055	0.003	T	0.54248	-0.8322	10	0.02654	T	1	-26.6164	8.1227	0.30980	0.7858:0.0:0.2142:0.0	.	423	Q8IZP7	H6ST3_HUMAN	R	423	ENSP00000365895:K423R	ENSP00000365895:K423R	K	+	2	0	HS6ST3	96283305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.176000	0.65026	1.052000	0.40392	0.459000	0.35465	AAG		0.592	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		83	111	0	0	0	1	0	83	111				
VNN3	55350	broad.mit.edu	37	6	133045014	133045014	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:133045014G>T	ENST00000207771.3	-	7	1305	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000367927.5_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	412					nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ACGTTTCCAGGTCAGTGGTTT	0.408																																						ENST00000207771.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(1231-1233)gaC>gaA		vanin 3							38.0	38.0	38.0					6																	133045014		876	1991	2867	SO:0001583	missense	55350							g.chr6:133045014G>T	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.1233C>A	6.37:g.133045014G>T	ENSP00000440594:p.Asp411Glu					VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_3'UTR	p.D411E						OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	7	1305	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	ENST00000207771.3	37	c.1233C>A		.	.	.	.	.	.	.	.	.	.	G	2.540	-0.306538	0.05458	.	.	ENSG00000093134	ENST00000207771	D	0.87809	-2.3	4.86	0.97	0.19692	.	0.090614	0.45126	U	0.000388	T	0.56877	0.2015	.	.	.	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.50524	-0.8818	9	0.27785	T	0.31	-6.1318	4.2281	0.10590	0.1427:0.1258:0.6014:0.1302	.	412	Q9NY84	VNN3_HUMAN	E	411	ENSP00000440594:D411E	ENSP00000440594:D411E	D	-	3	2	VNN3	133086707	0.017000	0.18338	0.000000	0.03702	0.322000	0.28314	0.377000	0.20552	-0.046000	0.13446	0.591000	0.81541	GAC		0.408	VNN3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028290		7	56	1	0	8.12818e-05	1	8.62728e-05	7	56				
C8B	732	broad.mit.edu	37	1	57397487	57397487	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:57397487C>T	ENST00000371237.4	-	11	1683	c.1617G>A	c.(1615-1617)cgG>cgA	p.R539R	C8B_ENST00000543257.1_Silent_p.R487R|C8B_ENST00000535057.1_Silent_p.R477R	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	539					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTTACTCTTCCGATAGGAGA	0.502																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(1459-1461)cgG>cgA		complement component 8, beta polypeptide							75.0	66.0	69.0					1																	57397487		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57397487C>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1617G>A	1.37:g.57397487C>T						C8B_ENST00000535057.1_Silent_p.R477R|C8B_ENST00000371237.4_Silent_p.R539R	p.R487R	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			12	2027	-			539			MACPF.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.1461G>A	CCDS30730.1																																																																																				0.502	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			16	56	0	0	0	1	0	16	56				
ZNF423	23090	broad.mit.edu	37	16	49672488	49672488	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:49672488T>C	ENST00000561648.1	-	4	628	c.575A>G	c.(574-576)aAg>aGg	p.K192R	ZNF423_ENST00000262383.2_Missense_Mutation_p.K192R|ZNF423_ENST00000562520.1_Missense_Mutation_p.K132R|ZNF423_ENST00000535559.1_Missense_Mutation_p.K75R|ZNF423_ENST00000567169.1_Missense_Mutation_p.K75R|ZNF423_ENST00000562871.1_Missense_Mutation_p.K132R|ZNF423_ENST00000563137.2_Missense_Mutation_p.K132R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	192					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGATACTTCTTGTCGCCCGT	0.587																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(574-576)aAg>aGg		zinc finger protein 423							64.0	50.0	55.0					16																	49672488		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672488T>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.575A>G	16.37:g.49672488T>C	ENSP00000455426:p.Lys192Arg					ZNF423_ENST00000262383.2_Missense_Mutation_p.K192R|ZNF423_ENST00000563137.2_Missense_Mutation_p.K132R|ZNF423_ENST00000567169.1_Missense_Mutation_p.K75R|ZNF423_ENST00000562520.1_Missense_Mutation_p.K132R|ZNF423_ENST00000562871.1_Missense_Mutation_p.K132R|ZNF423_ENST00000535559.1_Missense_Mutation_p.K75R	p.K192R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	628	-		all_cancers(37;0.0155)	192					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.575A>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292889	0.60086	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.24908	1.83;1.83	5.0	5.0	0.66597	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	N	0.16567	0.415	0.43453	D	0.99564	D	0.76494	0.999	D	0.91635	0.999	T	0.12708	-1.0537	9	.	.	.	.	14.7223	0.69317	0.0:0.0:0.0:1.0	.	192	Q2M1K9	ZN423_HUMAN	R	192;75	ENSP00000262383:K192R;ENSP00000442321:K75R	.	K	-	2	0	ZNF423	48229989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.891000	0.54761	0.459000	0.35465	AAG		0.587	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	44	0	0	0	1	0	5	44				
PDE2A	5138	broad.mit.edu	37	11	72300242	72300242	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:72300242T>C	ENST00000334456.5	-	12	1161	c.916A>G	c.(916-918)Atc>Gtc	p.I306V	PDE2A_ENST00000444035.2_Missense_Mutation_p.I297V|PDE2A_ENST00000418754.2_Missense_Mutation_p.I191V|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000540345.1_Missense_Mutation_p.I297V|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.I299V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	306	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TTCAGCTGGATGGACTTCTTG	0.602																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(916-918)Atc>Gtc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						88.0	68.0	74.0					11																	72300242		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72300242T>C	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.916A>G	11.37:g.72300242T>C	ENSP00000334910:p.Ile306Val					PDE2A_ENST00000444035.2_Missense_Mutation_p.I297V|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Missense_Mutation_p.I191V|PDE2A_ENST00000540345.1_Missense_Mutation_p.I297V|PDE2A_ENST00000544570.1_Missense_Mutation_p.I299V	p.I306V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		12	1161	-			306			GAF 1.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.916A>G	CCDS8216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.33|13.33	2.204826|2.204826	0.38905|0.38905	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000538299|ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	.|T;T;T;T;T;T	.|0.64618	.|-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.46|5.46	5.46|5.46	0.80206|0.80206	.|GAF (2);	.|0.462530	.|0.19720	.|N	.|0.107610	T|T	0.52240|0.52240	0.1722|0.1722	L|L	0.28608|0.28608	0.87|0.87	0.43172|0.43172	D|D	0.994976|0.994976	.|B;B;B;B;B	.|0.22414	.|0.064;0.03;0.069;0.056;0.063	.|B;B;B;B;B	.|0.35607	.|0.206;0.046;0.031;0.03;0.07	T|T	0.42999|0.42999	-0.9418|-0.9418	5|10	.|0.07813	.|T	.|0.8	.|.	12.9074|12.9074	0.58160|0.58160	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|191;306;297;299;306	.|E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.|.;PDE2A_HUMAN;.;.;.	R|V	67|306;297;375;299;191;297;130	.|ENSP00000334910:I306V;ENSP00000411657:I297V;ENSP00000442256:I299V;ENSP00000410310:I191V;ENSP00000446399:I297V;ENSP00000439077:I130V	.|ENSP00000334910:I306V	H|I	-|-	2|1	0|0	PDE2A|PDE2A	71977890|71977890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.706000|4.706000	0.61845|0.61845	2.071000|2.071000	0.62044|0.62044	0.402000|0.402000	0.26972|0.26972	CAT|ATC		0.602	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		25	24	0	0	0	1	0	25	24				
GJA1	2697	broad.mit.edu	37	6	121769018	121769018	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:121769018A>G	ENST00000282561.3	+	2	1182	c.1025A>G	c.(1024-1026)cAg>cGg	p.Q342R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	342					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GATGATAACCAGAATTCTAAA	0.498																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(1024-1026)cAg>cGg		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						60.0	66.0	64.0					6																	121769018		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121769018A>G	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.1025A>G	6.37:g.121769018A>G	ENSP00000282561:p.Gln342Arg						p.Q342R	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	1182	+			342					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.1025A>G	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.150116	0.37923	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.81499	-1.5	4.75	4.75	0.60458	.	0.505748	0.14033	U	0.346012	T	0.59649	0.2209	N	0.24115	0.695	0.47407	D	0.999413	B	0.13145	0.007	B	0.18561	0.022	T	0.58595	-0.7609	10	0.46703	T	0.11	.	14.7045	0.69179	1.0:0.0:0.0:0.0	.	342	P17302	CXA1_HUMAN	R	326;342	ENSP00000282561:Q342R	ENSP00000282561:Q342R	Q	+	2	0	GJA1	121810717	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.921000	0.75805	2.121000	0.65114	0.397000	0.26171	CAG		0.498	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		91	68	0	0	0	1	0	91	68				
THOC6	79228	broad.mit.edu	37	16	3075924	3075924	+	Splice_Site	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3075924G>C	ENST00000326266.8	+	3	451		c.e3-1		HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000575576.1_Splice_Site|HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000253952.9_Splice_Site|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Splice_Site	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)						apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTCCCTGCAGCTTGTCCTCT	0.582																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.e3-1		THO complex 6 homolog (Drosophila)							92.0	100.0	98.0					16																	3075924		2198	4300	6498	SO:0001630	splice_region_variant	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3075924G>C	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.156-1G>C	16.37:g.3075924G>C						THOC6_ENST00000574549.1_Splice_Site|THOC6_ENST00000575576.1_Splice_Site|THOC6_ENST00000253952.9_Splice_Site		NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			3	451	+								B2RA85|Q8NBR1|Q9BTV9	Splice_Site	SNP	ENST00000326266.8	37		CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012631	0.35511	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.665	0.85250	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	THOC6	3015925	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	8.339000	0.90041	2.527000	0.85204	0.462000	0.41574	.		0.582	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339	Intron	5	254	0	0	0	1	0	5	254				
DENND3	22898	broad.mit.edu	37	8	142161887	142161887	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:142161887C>T	ENST00000262585.2	+	7	1063	c.785C>T	c.(784-786)aCg>aTg	p.T262M	DENND3_ENST00000519811.1_Missense_Mutation_p.T342M|DENND3_ENST00000424248.1_Missense_Mutation_p.T262M	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	262	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCCCCCACGTCCTTCCTG	0.547																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1024-1026)aCg>aTg		DENN/MADD domain containing 3							139.0	119.0	126.0					8																	142161887		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142161887C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.785C>T	8.37:g.142161887C>T	ENSP00000262585:p.Thr262Met					DENND3_ENST00000424248.1_Missense_Mutation_p.T262M|DENND3_ENST00000262585.2_Missense_Mutation_p.T262M	p.T342M			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1095	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		262					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1025C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919590	0.92249	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.71	5.71	0.89125	DENN (3);	0.046064	0.85682	D	0.000000	T	0.32406	0.0828	L	0.45285	1.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00370	-1.1783	10	0.38643	T	0.18	-21.765	19.8344	0.96650	0.0:1.0:0.0:0.0	.	342;262	E9PF32;A2RUS2	.;DEND3_HUMAN	M	262;262;342;264	ENSP00000262585:T262M;ENSP00000410594:T262M;ENSP00000428714:T342M;ENSP00000429780:T264M	ENSP00000262585:T262M	T	+	2	0	DENND3	142231069	1.000000	0.71417	0.932000	0.37286	0.957000	0.61999	7.422000	0.80217	2.691000	0.91804	0.563000	0.77884	ACG		0.547	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		86	111	0	0	0	1	0	86	111				
ZNF561	93134	broad.mit.edu	37	19	9721559	9721559	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:9721559T>C	ENST00000302851.3	-	6	1141	c.778A>G	c.(778-780)Aaa>Gaa	p.K260E	ZNF561_ENST00000354661.4_Missense_Mutation_p.K124E|ZNF561_ENST00000424629.1_Missense_Mutation_p.K191E|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GTGAAGGATTTCCCACATTTC	0.368																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(778-780)Aaa>Gaa		zinc finger protein 561							76.0	77.0	77.0					19																	9721559		2203	4300	6503	SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721559T>C	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.778A>G	19.37:g.9721559T>C	ENSP00000303915:p.Lys260Glu					ZNF561_ENST00000424629.1_Missense_Mutation_p.K191E|ZNF561_ENST00000354661.4_Missense_Mutation_p.K124E|ZNF561_ENST00000326044.5_3'UTR	p.K260E	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			6	1141	-			260					B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.778A>G	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012799	0.75161	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	T;T;T;T	0.21543	2.94;3.07;2.97;2.0	1.42	0.344	0.16006	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44117	0.1278	M	0.89095	3.005	0.27044	N	0.963948	P	0.52842	0.956	D	0.65010	0.931	T	0.26573	-1.0099	9	0.87932	D	0	.	4.6948	0.12799	0.0:0.2007:0.0:0.7993	.	260	Q8N587	ZN561_HUMAN	E	191;260;124;266	ENSP00000393074:K191E;ENSP00000303915:K260E;ENSP00000346687:K124E;ENSP00000392013:K266E	ENSP00000303915:K260E	K	-	1	0	ZNF561	9582559	0.022000	0.18835	0.010000	0.14722	0.722000	0.41435	0.858000	0.27845	0.051000	0.15978	0.248000	0.18094	AAA		0.368	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		57	163	0	0	0	1	0	57	163				
CA2	760	broad.mit.edu	37	8	86386583	86386583	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:86386583G>C	ENST00000285379.5	+	4	612	c.382G>C	c.(382-384)Ggg>Cgg	p.G128R		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	128					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CACCAAATATGGGGATTTTGG	0.398																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(382-384)Ggg>Cgg		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						173.0	183.0	180.0					8																	86386583		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86386583G>C	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.382G>C	8.37:g.86386583G>C	ENSP00000285379:p.Gly128Arg						p.G128R	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			4	612	+			128					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.382G>C	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.376137	0.01214	.	.	ENSG00000104267	ENST00000285379	T	0.66099	-0.19	5.67	4.8	0.61643	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.401215	0.28730	N	0.014332	T	0.50684	0.1630	L	0.31526	0.94	0.09310	N	1	B	0.31413	0.322	B	0.38020	0.263	T	0.43196	-0.9406	10	0.29301	T	0.29	-2.9248	8.6863	0.34240	0.0757:0.0:0.7742:0.1501	.	128	P00918	CAH2_HUMAN	R	128	ENSP00000285379:G128R	ENSP00000285379:G128R	G	+	1	0	CA2	86573835	0.000000	0.05858	0.150000	0.22450	0.203000	0.24098	0.252000	0.18278	1.394000	0.46624	0.650000	0.86243	GGG		0.398	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		5	425	0	0	0	1	0	5	425				
SV2B	9899	broad.mit.edu	37	15	91769716	91769716	+	Missense_Mutation	SNP	C	C	T	rs201612018		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:91769716C>T	ENST00000394232.1	+	2	693	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	SV2B_ENST00000330276.4_Missense_Mutation_p.R75W|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	75					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACAGCCTTCGGGGCCAGAC	0.587																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(223-225)Cgg>Tgg		synaptic vesicle glycoprotein 2B							81.0	73.0	76.0					15																	91769716		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769716C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.223C>T	15.37:g.91769716C>T	ENSP00000377779:p.Arg75Trp					SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.R75W|SV2B_ENST00000545111.2_Intron	p.R75W	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		2	693	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		75					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.223C>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660853	0.29515	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.34275	1.37;1.37	5.17	3.03	0.35002	.	0.494275	0.21813	N	0.068737	T	0.26666	0.0652	L	0.40543	1.245	0.09310	N	0.999998	B	0.28636	0.218	B	0.20955	0.032	T	0.23511	-1.0186	10	0.72032	D	0.01	-4.8829	9.0413	0.36319	0.2521:0.632:0.116:0.0	.	75	Q7L1I2	SV2B_HUMAN	W	75	ENSP00000377779:R75W;ENSP00000332818:R75W	ENSP00000332818:R75W	R	+	1	2	SV2B	89570720	1.000000	0.71417	0.128000	0.21923	0.061000	0.15899	1.513000	0.35823	1.147000	0.42369	0.563000	0.77884	CGG		0.587	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		27	26	0	0	0	1	0	27	26				
ENOX2	10495	broad.mit.edu	37	X	129843238	129843238	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:129843238C>T	ENST00000370927.1	-	1	49	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	ENOX2_ENST00000338144.3_Missense_Mutation_p.V10I|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Intron			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	10					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATTTCGTAGACCCACAGCCAT	0.423																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(28-30)Gtc>Atc		ecto-NOX disulfide-thiol exchanger 2							190.0	145.0	160.0					X																	129843238		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129843238C>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.28G>A	X.37:g.129843238C>T	ENSP00000359965:p.Val10Ile					ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000370927.1_Missense_Mutation_p.V10I	p.V10I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			4	445	-			10					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.28G>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	7.773	0.707794	0.15239	.	.	ENSG00000165675	ENST00000338144;ENST00000370927	.	.	.	2.92	-0.727	0.11166	.	2.052620	0.02905	N	0.135994	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09574	-1.0668	8	.	.	.	.	2.9361	0.05815	0.0:0.357:0.2328:0.4102	.	10	Q16206	ENOX2_HUMAN	I	10	.	.	V	-	1	0	ENOX2	129670919	0.006000	0.16342	0.023000	0.16930	0.063000	0.16089	-0.569000	0.05902	-0.291000	0.09012	-0.191000	0.12829	GTC		0.423	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		26	147	0	0	0	1	0	26	147				
ETV5	2119	broad.mit.edu	37	3	185798911	185798911	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:185798911A>G	ENST00000306376.5	-	6	532	c.286T>C	c.(286-288)Tcc>Ccc	p.S96P	ETV5_ENST00000434744.1_Missense_Mutation_p.S96P|ETV5_ENST00000537818.1_Missense_Mutation_p.S138P|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	96					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGCTCAGAGGAGGGGCTGTGC	0.522			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(286-288)Tcc>Ccc		ets variant 5							119.0	122.0	121.0					3																	185798911		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185798911A>G	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.286T>C	3.37:g.185798911A>G	ENSP00000306894:p.Ser96Pro					ETV5_ENST00000537818.1_Missense_Mutation_p.S138P|ETV5_ENST00000434744.1_Missense_Mutation_p.S96P	p.S96P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		6	532	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		96					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.286T>C	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919869	0.73098	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.04	5.04	0.67666	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.305463	0.32533	N	0.005965	T	0.51856	0.1699	M	0.70275	2.135	0.47905	D	0.999549	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.995	T	0.49194	-0.8965	10	0.30854	T	0.27	.	12.2934	0.54831	1.0:0.0:0.0:0.0	.	96;138	P41161;B7Z7D7	ETV5_HUMAN;.	P	96;96;138;96;96;96	ENSP00000306894:S96P;ENSP00000413755:S96P;ENSP00000441737:S138P;ENSP00000389707:S96P;ENSP00000412171:S96P;ENSP00000405157:S96P	ENSP00000306894:S96P	S	-	1	0	ETV5	187281605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.908000	0.63307	1.894000	0.54839	0.460000	0.39030	TCC		0.522	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		9	323	0	0	0	1	0	9	323				
CASK	8573	broad.mit.edu	37	X	41383253	41383253	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:41383253G>A	ENST00000378163.1	-	26	3029	c.2555C>T	c.(2554-2556)cCt>cTt	p.P852L	CASK-AS1_ENST00000451126.1_RNA|CASK_ENST00000318588.9_Missense_Mutation_p.P847L|CASK_ENST00000378166.4_Missense_Mutation_p.P847L|CASK_ENST00000442742.2_Missense_Mutation_p.P824L|CASK_ENST00000361962.4_Missense_Mutation_p.P835L|CASK_ENST00000378158.1_Missense_Mutation_p.P835L|CASK_ENST00000421587.2_Missense_Mutation_p.P823L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	852	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AACAACAAAAGGAGCAAACTC	0.353																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(2539-2541)cCt>cTt		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							110.0	94.0	99.0					X																	41383253		2202	4300	6502	SO:0001583	missense	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41383253G>A	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2555C>T	X.37:g.41383253G>A	ENSP00000367405:p.Pro852Leu					CASK_ENST00000378163.1_Missense_Mutation_p.P852L|CASK_ENST00000442742.2_Missense_Mutation_p.P824L|CASK_ENST00000378166.4_Missense_Mutation_p.P847L|CASK_ENST00000361962.4_Missense_Mutation_p.P835L|CASK_ENST00000378158.1_Missense_Mutation_p.P835L|CASK_ENST00000421587.2_Missense_Mutation_p.P823L	p.P847L			O14936	CSKP_HUMAN			26	2585	-			852			Guanylate kinase-like.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37	c.2540C>T		.	.	.	.	.	.	.	.	.	.	G	16.26	3.073204	0.55646	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.69	4.84	0.62591	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.52532	D	0.000070	T	0.80166	0.4573	H	0.95114	3.625	0.80722	D	1	D;B;D;D;D	0.89917	0.999;0.01;1.0;1.0;1.0	D;B;D;D;D	0.91635	0.959;0.004;0.999;0.995;0.988	D	0.85718	0.1323	10	0.87932	D	0	.	13.8199	0.63313	0.0752:0.0:0.9248:0.0	.	823;824;847;852;444	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	L	823;847;835;852;444;307;835;847;824	ENSP00000400526:P823L;ENSP00000322727:P847L;ENSP00000354641:P835L;ENSP00000367405:P852L;ENSP00000367421:P444L;ENSP00000367410:P307L;ENSP00000367400:P835L;ENSP00000367408:P847L;ENSP00000398007:P824L	ENSP00000322727:P847L	P	-	2	0	CASK	41268197	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	9.357000	0.97099	1.169000	0.42739	0.600000	0.82982	CCT		0.353	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		3	84	0	0	0	1	0	3	84				
PLCB3	5331	broad.mit.edu	37	11	64030204	64030204	+	Missense_Mutation	SNP	G	G	A	rs556404139	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:64030204G>A	ENST00000540288.1	+	19	2382	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	PLCB3_ENST00000325234.5_Missense_Mutation_p.R693H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R760H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	760	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GATACGCGGCGCAAGTACCGC	0.637													G|||	4	0.000798722	0.0	0.0	5008	,	,		18386	0.004		0.0	False		,,,				2504	0.0					ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(2278-2280)cGc>cAc		phospholipase C, beta 3 (phosphatidylinositol-specific)							152.0	133.0	139.0					11																	64030204		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64030204G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2279G>A	11.37:g.64030204G>A	ENSP00000443631:p.Arg760His					PLCB3_ENST00000279230.6_Missense_Mutation_p.R760H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R693H	p.R760H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			19	2382	+			760			C2.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.2279G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951247	0.92660	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.69175	-0.38;-0.38;-0.38	5.21	4.29	0.51040	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82428	-0.0462	10	0.42905	T	0.14	.	14.704	0.69174	0.0:0.1465:0.8535:0.0	.	693;760	G5E960;Q01970	.;PLCB3_HUMAN	H	760;760;693	ENSP00000279230:R760H;ENSP00000443631:R760H;ENSP00000324660:R693H	ENSP00000279230:R760H	R	+	2	0	PLCB3	63786780	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.946000	0.87746	1.186000	0.42985	0.591000	0.81541	CGC		0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			6	173	0	0	0	1	0	6	173				
ZC3H12B	340554	broad.mit.edu	37	X	64722740	64722740	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:64722740C>T	ENST00000338957.4	+	5	2229	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P710L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	721							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACGACCTCCCCTGTGCCGG	0.602																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2161-2163)cCc>cTc		zinc finger CCCH-type containing 12B							51.0	54.0	53.0					X																	64722740		2172	4253	6425	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722740C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2162C>T	X.37:g.64722740C>T	ENSP00000340839:p.Pro721Leu					ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P710L	p.P721L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	2229	+			710					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.2162C>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241177	0.39598	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.23147	1.92;1.92	5.79	5.79	0.91817	.	0.104891	0.64402	D	0.000002	T	0.45994	0.1370	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.21621	-1.0240	10	0.12430	T	0.62	-22.411	17.3706	0.87376	0.0:1.0:0.0:0.0	.	710	Q5HYM0	ZC12B_HUMAN	L	721;710;657	ENSP00000340839:P721L;ENSP00000408077:P710L	ENSP00000218172:P657L	P	+	2	0	ZC3H12B	64639465	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.539000	0.60657	2.426000	0.82243	0.506000	0.49869	CCC		0.602	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		47	49	0	0	0	1	0	47	49				
LIFR	3977	broad.mit.edu	37	5	38506633	38506633	+	Missense_Mutation	SNP	G	G	A	rs200967700		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:38506633G>A	ENST00000263409.4	-	8	1255	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R365C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	365	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTTGTAGCACGTGGGCCCACC	0.418			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1093-1095)Cgt>Tgt		leukemia inhibitory factor receptor alpha							105.0	101.0	102.0					5																	38506633		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38506633G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1093C>T	5.37:g.38506633G>A	ENSP00000263409:p.Arg365Cys					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R365C	p.R365C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			8	1255	-	all_lung(31;0.00021)		365			Fibronectin type-III 2.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1093C>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184077	0.38609	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58358	0.34;0.34	5.38	4.5	0.54988	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.289105	0.33916	N	0.004434	T	0.70237	0.3201	M	0.80847	2.515	0.36391	D	0.862506	D	0.89917	1.0	D	0.64410	0.925	T	0.78597	-0.2142	10	0.72032	D	0.01	-8.8133	12.6029	0.56506	0.0813:0.0:0.9187:0.0	.	365	P42702	LIFR_HUMAN	C	365	ENSP00000263409:R365C;ENSP00000398368:R365C	ENSP00000263409:R365C	R	-	1	0	LIFR	38542390	0.910000	0.30920	0.207000	0.23584	0.009000	0.06853	4.409000	0.59768	2.672000	0.90937	0.650000	0.86243	CGT		0.418	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		67	72	0	0	0	1	0	67	72				
SOS1	6654	broad.mit.edu	37	2	39283896	39283896	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:39283896G>A	ENST00000426016.1	-	5	543	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	SOS1_ENST00000402219.2_Missense_Mutation_p.R153W|SOS1_ENST00000395038.2_Missense_Mutation_p.R153W|SOS1_ENST00000428721.2_Missense_Mutation_p.R96W			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	153					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATAATGCCGTATATTTCTT	0.308									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(457-459)Cgg>Tgg		son of sevenless homolog 1 (Drosophila)							164.0	181.0	175.0					2																	39283896		2203	4299	6502	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39283896G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.457C>T	2.37:g.39283896G>A	ENSP00000387784:p.Arg153Trp					SOS1_ENST00000428721.2_Missense_Mutation_p.R96W|SOS1_ENST00000395038.2_Missense_Mutation_p.R153W|SOS1_ENST00000402219.2_Missense_Mutation_p.R153W	p.R153W			Q07889	SOS1_HUMAN			5	543	-		all_hematologic(82;0.21)	153					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.457C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262940	0.80358	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45	5.94	5.01	0.66863	Histone-fold (2);Histone core (1);	0.051321	0.64402	D	0.000001	T	0.80160	0.4572	M	0.76170	2.325	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.81525	-0.0893	10	0.87932	D	0	.	12.3872	0.55338	0.0:0.0:0.679:0.321	.	153	Q07889	SOS1_HUMAN	W	153;153;153;153;96;96	ENSP00000387784:R153W;ENSP00000384675:R153W;ENSP00000378479:R153W;ENSP00000399992:R96W;ENSP00000393899:R96W	ENSP00000263879:R153W	R	-	1	2	SOS1	39137400	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.794000	0.62482	2.812000	0.96745	0.557000	0.71058	CGG		0.308	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		5	557	0	0	0	1	0	5	557				
MRGPRX2	117194	broad.mit.edu	37	11	19076984	19076984	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:19076984C>T	ENST00000329773.2	-	2	1053	c.966G>A	c.(964-966)ccG>ccA	p.P322P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	322					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCGACATCTCCGGGGTGCCCT	0.557																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(964-966)ccG>ccA		MAS-related GPR, member X2							62.0	62.0	62.0					11																	19076984		2199	4293	6492	SO:0001819	synonymous_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19076984C>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.966G>A	11.37:g.19076984C>T							p.P322P	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	1053	-			322					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.966G>A	CCDS7847.1																																																																																				0.557	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		7	92	0	0	0	1	0	7	92				
PABPC5	140886	broad.mit.edu	37	X	90691183	90691183	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:90691183G>A	ENST00000312600.3	+	2	821	c.607G>A	c.(607-609)Gtt>Att	p.V203I	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.V39I	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	203	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V203I(2)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAATGTTTTCGTTAAAAACAT	0.448																																						ENST00000312600.3																			2	Substitution - Missense(2)	p.V203I(2)	central_nervous_system(2)	central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(607-609)Gtt>Att		poly(A) binding protein, cytoplasmic 5							41.0	42.0	42.0					X																	90691183		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691183G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.607G>A	X.37:g.90691183G>A	ENSP00000308012:p.Val203Ile					PABPC5_ENST00000373105.1_Missense_Mutation_p.V39I	p.V203I	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	821	+			203			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.607G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	4.678	0.126045	0.08931	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.27104	1.69;1.69	4.53	2.77	0.32553	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055265	0.64402	D	0.000001	T	0.14527	0.0351	L	0.35644	1.08	0.34867	D	0.743236	B	0.30634	0.288	B	0.25987	0.065	T	0.18840	-1.0324	10	0.12103	T	0.63	.	5.7808	0.18306	0.3337:0.0:0.6663:0.0	.	203	Q96DU9	PABP5_HUMAN	I	39;203;171	ENSP00000362197:V39I;ENSP00000308012:V203I	ENSP00000308012:V203I	V	+	1	0	PABPC5	90577839	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	5.886000	0.69743	0.641000	0.30601	0.600000	0.82982	GTT		0.448	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		6	127	0	0	0	1	0	6	127				
ACO1	48	broad.mit.edu	37	9	32420980	32420980	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:32420980T>C	ENST00000309951.6	+	8	1063	c.925T>C	c.(925-927)Ttt>Ctt	p.F309L	ACO1_ENST00000379923.1_Missense_Mutation_p.F309L|ACO1_ENST00000541043.1_Missense_Mutation_p.F210L	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	309					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AACTGCTGCCTTTTTCCCAGT	0.483																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(925-927)Ttt>Ctt		aconitase 1, soluble							203.0	190.0	194.0					9																	32420980		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32420980T>C	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.925T>C	9.37:g.32420980T>C	ENSP00000309477:p.Phe309Leu					ACO1_ENST00000309951.5_Missense_Mutation_p.F309L|ACO1_ENST00000541043.1_Missense_Mutation_p.F210L	p.F309L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	9	1131	+			309					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.925T>C	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736271	0.89482	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.38077	1.16;1.16;1.16	5.84	5.84	0.93424	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.042704	0.85682	D	0.000000	T	0.55878	0.1948	M	0.61387	1.9	0.80722	D	1	D;B	0.65815	0.995;0.076	D;B	0.63957	0.92;0.101	T	0.58086	-0.7698	10	0.66056	D	0.02	-7.1161	15.2058	0.73177	0.0:0.0:0.0:1.0	.	345;309	Q59FI0;P21399	.;ACOC_HUMAN	L	345;309;309;309;210	ENSP00000309477:F309L;ENSP00000369255:F309L;ENSP00000438733:F210L	ENSP00000309477:F309L	F	+	1	0	ACO1	32410980	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.243000	0.73865	0.482000	0.46254	TTT		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		5	748	0	0	0	1	0	5	748				
TTN	7273	broad.mit.edu	37	2	179563643	179563644	+	Splice_Site	INS	-	-	A	rs368277751		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:179563643_179563644insA	ENST00000591111.1	-	110	29956		c.e110-2		TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TTTTGGTAACTaaaaaaaaaaa	0.277																																						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.e112-2		titin																																				SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179563643_179563644insA	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.29732-2->T	2.37:g.179563654_179563654dupA						TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA		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)		112	30907	-								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	Splice_Site	INS	ENST00000591111.1	37																																																																																						0.277	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	3	5						3	5	---	---	---	---
UBA6-AS1	550112	broad.mit.edu	37	4	68632427	68632428	+	RNA	INS	-	-	TATA			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:68632427_68632428insTATA	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA					UBA6 antisense RNA 1 (head to head)																		acaTATATATActtattatttt	0.431																																						ENST00000500538.2																			0																																																			0							g.chr4:68632427_68632428insTATA			4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68632424_68632427dupTATA						RP11-453E17.1_ENST00000502758.1_RNA								0	1905	+									RNA	INS	ENST00000500538.2	37																																																																																						0.431	UBA6-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000362199.2			3	2						3	2	---	---	---	---
LINC01331	104310351	broad.mit.edu	37	5	73726286	73726286	+	lincRNA	DEL	A	A	-	rs138317759	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:73726286delA	ENST00000507781.1	-	0	422																											acagccacccaacgtgatgag	0.567													AA|AA|A|deletion	1519	0.303315	0.2874	0.379	5008	,	,		20006	0.253		0.2525	False		,,,				2504	0.3753					ENST00000507781.1																			0																																																			0							g.chr5:73726286delA																													5.37:g.73726286delA														0	422	-									RNA	DEL	ENST00000507781.1	37																																																																																						0.567	CTC-419K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000368999.1			2	4						2	4	---	---	---	---
MRPL42P4	346470	broad.mit.edu	37	7	47065866	47065869	+	RNA	DEL	ATCT	ATCT	-	rs369830900		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:47065866_47065869delATCT	ENST00000433337.1	-	0	237				AC004870.3_ENST00000412996.1_lincRNA																							TTTTTTGCTAATCTATTTTTCAGC	0.417																																						ENST00000433337.1																			0																																																			0							g.chr7:47065866_47065869delATCT																													7.37:g.47065866_47065869delATCT						AC004870.3_ENST00000412996.1_RNA								0	237	-									RNA	DEL	ENST00000433337.1	37																																																																																						0.417	AC004901.1-002	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000340265.2			5	8						5	8	---	---	---	---
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	DEL	G	G	-	rs201713470	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602delG																													9.37:g.41962602delG								NR_003670.1						0	902	-									RNA	DEL	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			9	405						9	405	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25455113	25455113	+	RNA	DEL	A	A	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:25455113delA	ENST00000424208.1	+	0	2384				SNORD115-22_ENST00000364456.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTGATGACTTAAAAATCATGC	0.493																																						ENST00000424208.1																			0																				436.0	434.0	434.0					15																	25455113		876	1989	2865			0							g.chr15:25455113delA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25455113delA						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-22_ENST00000364456.1_RNA		NR_003305.1						0	2384	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.493	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			27	796						27	796	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5320213	5320214	+	RNA	INS	-	-	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:5320213_5320214insA	ENST00000569895.1	+	0	304																											TGAAAGGTGGCAAAAAGGGAGT	0.366																																						ENST00000569895.1																			0																																																			0							g.chr16:5320213_5320214insA																													16.37:g.5320218_5320218dupA														0	304	+									RNA	INS	ENST00000569895.1	37																																																																																						0.366	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			7	35						7	35	---	---	---	---
PABPN1L	390748	broad.mit.edu	37	16	88932977	88932977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:88932977delG	ENST00000419291.2	-	1	49	c.38delC	c.(37-39)ccgfs	p.P13fs	PABPN1L_ENST00000378358.4_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000411789.2_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000427766.1_Frame_Shift_Del_p.P13fs	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	13						cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						GGCCTGAGTCGGGGGTGGGAA	0.692																																						ENST00000419291.2																			0				kidney(1)	1						c.(37-39)cgfs		poly(A) binding protein, nuclear 1-like (cytoplasmic)							14.0	17.0	16.0					16																	88932977		1830	4022	5852	SO:0001589	frameshift_variant	390748					cytoplasm	nucleotide binding|RNA binding	g.chr16:88932977delG		CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"""RNA binding motif (RRM) containing"""	37237	protein-coding gene	gene with protein product	"""embryonic poly(A) binding protein 2"""					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.38delC	16.37:g.88932977delG	ENSP00000408598:p.Pro13fs					PABPN1L_ENST00000378358.4_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000427766.1_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000411789.2_Frame_Shift_Del_p.P13fs	p.P13fs	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN			1	49	-			13					A1L3B3|A2VDI2	Frame_Shift_Del	DEL	ENST00000419291.2	37	c.38delC	CCDS45547.2																																																																																				0.692	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407502.1	NM_001080487		2	4						2	4	---	---	---	---
KIAA1328	57536	broad.mit.edu	37	18	34465544	34465545	+	Frame_Shift_Del	DEL	AG	AG	-	rs369548681		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:34465544_34465545delAG	ENST00000280020.5	+	5	379_380	c.357_358delAG	c.(355-360)acagagfs	p.E121fs	KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000591619.1_Frame_Shift_Del_p.E117fs|KIAA1328_ENST00000592521.1_Frame_Shift_Del_p.E121fs|KIAA1328_ENST00000543923.1_Frame_Shift_Del_p.E13fs	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	121										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AGGAAGTGACAGAGGAAAGACT	0.347																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(343-348)acagfs		KIAA1328				9,3527		2,5,1761						5.5	1.0			51	16,7824		3,10,3907	no	frameshift	KIAA1328	NM_020776.1		5,15,5668	A1A1,A1R,RR		0.2041,0.2545,0.2198				25,11351				SO:0001589	frameshift_variant	57536							g.chr18:34465544_34465545delAG	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.357_358delAG	18.37:g.34465546_34465547delAG	ENSP00000280020:p.Glu121fs					KIAA1328_ENST00000280020.5_Frame_Shift_Del_p.TE119fs|KIAA1328_ENST00000543923.1_Frame_Shift_Del_p.TE11fs|KIAA1328_ENST00000592521.1_Frame_Shift_Del_p.TE119fs|KIAA1328_ENST00000435985.2_5'UTR	p.TE115fs			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	5	1131_1132	+			119					Q05DL0|Q49AG6|Q9P2L8	Frame_Shift_Del	DEL	ENST00000280020.5	37	c.345_346delAG	CCDS45855.1																																																																																				0.347	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		9	7						9	7	---	---	---	---
MALT1	10892	broad.mit.edu	37	18	56367772	56367772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56367772delT	ENST00000348428.3	+	4	856	c.598delT	c.(598-600)ttcfs	p.F200fs	MALT1_ENST00000345724.3_Frame_Shift_Del_p.F200fs|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	200	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CACCTTTGAATTCAGCCAGTG	0.403			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(598-600)tcfs		mucosa associated lymphoid tissue lymphoma translocation gene 1							85.0	78.0	81.0					18																	56367772		2203	4300	6503	SO:0001589	frameshift_variant	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56367772delT		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.598delT	18.37:g.56367772delT	ENSP00000319279:p.Phe200fs					RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Frame_Shift_Del_p.F200fs	p.F200fs	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			4	856	+			200			Ig-like C2-type 1.		Q9NTB7|Q9ULX4	Frame_Shift_Del	DEL	ENST00000348428.3	37	c.598delT	CCDS11967.1																																																																																				0.403	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			23	96						23	96	---	---	---	---
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	lincRNA	INS	-	-	T	rs34195125		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347																																						ENST00000420186.2																			0																																																			0							g.chr21:28793489_28793490insT																													21.37:g.28793500_28793500dupT														0	202	-									RNA	INS	ENST00000420186.2	37																																																																																						0.347	AP001604.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171665.2			4	3						4	3	---	---	---	---
