#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
ADAM30	11085	broad.mit.edu	37	1	120438863	120438863	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr1:120438863G>A	ENST00000369400.1	-	1	255	c.97C>T	c.(97-99)Cac>Tac	p.H33Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	33					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTTCAGGGTGAAAAATTACA	0.512																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(97-99)Cac>Tac		ADAM metallopeptidase domain 30							58.0	58.0	58.0					1																	120438863		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438863G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.97C>T	1.37:g.120438863G>A	ENSP00000358407:p.His33Tyr						p.H33Y	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	255	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	33					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.97C>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359884	0.24598	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01165	5.24	4.6	2.5	0.30297	.	0.571105	0.14533	N	0.313714	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	P	0.48834	0.916	B	0.41412	0.356	T	0.54146	-0.8337	10	0.41790	T	0.15	.	7.0697	0.25171	0.0:0.266:0.5609:0.173	.	33	Q9UKF2	ADA30_HUMAN	Y	33	ENSP00000358407:H33Y	ENSP00000358407:H33Y	H	-	1	0	ADAM30	120240386	0.076000	0.21285	0.146000	0.22360	0.061000	0.15899	2.711000	0.47177	1.041000	0.40125	0.455000	0.32223	CAC		0.512	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		42	18	0	0	0	0.104719	0	42	18				
C3orf20	84077	broad.mit.edu	37	3	14731559	14731559	+	Silent	SNP	C	C	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr3:14731559C>T	ENST00000253697.3	+	5	1133	c.681C>T	c.(679-681)taC>taT	p.Y227Y	C3orf20_ENST00000412910.1_Silent_p.Y105Y|C3orf20_ENST00000435614.1_Silent_p.Y105Y	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	227						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGCTGATCTACCACTCTTCCA	0.468																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(679-681)taC>taT		chromosome 3 open reading frame 20							102.0	100.0	101.0					3																	14731559		2203	4300	6503	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14731559C>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.681C>T	3.37:g.14731559C>T						C3orf20_ENST00000435614.1_Silent_p.Y105Y|C3orf20_ENST00000412910.1_Silent_p.Y105Y	p.Y227Y	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			5	1133	+			227					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.681C>T	CCDS33706.1																																																																																				0.468	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		11	61	0	0	0	0.080935	0	11	61				
WBP11P1	441818	broad.mit.edu	37	18	30092371	30092371	+	RNA	SNP	C	C	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr18:30092371C>T	ENST00000567636.1	+	0	746					NR_003558.1				WW domain binding protein 11 pseudogene 1																		CTTCTTGGGACGTGGTGTTCC	0.557																																						ENST00000567636.1																			0																																																			441818							g.chr18:30092371C>T	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092371C>T								NR_003558.1						0	746	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.557	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			21	38	0	0	0	0.062417	0	21	38				
PRDM7	11105	broad.mit.edu	37	16	90161168	90161168	+	5'Flank	SNP	T	T	G	rs8055740|rs371109645	byFrequency	TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr16:90161168T>G	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTCCTGTCCTCCGAGTCGAG	0.622													.|||	781	0.15595	0.2186	0.1527	5008	,	,		2545	0.003		0.2684	False		,,,				2504	0.1155					ENST00000564451.1																			0																																																	SO:0001631	upstream_gene_variant	197331							g.chr16:90161168T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161168T>G	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	894	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.622	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			3	12	0	0	0	0.021553	0	3	12				
HYAL4	23553	broad.mit.edu	37	7	123516948	123516948	+	Silent	SNP	C	C	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr7:123516948C>T	ENST00000223026.4	+	5	1823	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	HYAL4_ENST00000476325.1_Silent_p.P395P	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	395					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGAACGCGCCCAGTTACCTTC	0.512																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1183-1185)ccC>ccT		hyaluronoglucosaminidase 4							138.0	127.0	131.0					7																	123516948		2203	4300	6503	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123516948C>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1185C>T	7.37:g.123516948C>T						HYAL4_ENST00000476325.1_Silent_p.P395P	p.P395P	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			5	1823	+			395					D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.1185C>T	CCDS5789.1																																																																																				0.512	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		57	82	0	0	0	0.139131	0	57	82				
NGLY1	55768	broad.mit.edu	37	3	25761622	25761622	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr3:25761622C>A	ENST00000280700.5	-	11	1832	c.1672G>T	c.(1672-1674)Ggg>Tgg	p.G558W	NGLY1_ENST00000396649.3_Intron|NGLY1_ENST00000417874.2_Missense_Mutation_p.G516W|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.G540W	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	558	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CCAACTGACCCACACTCAAAC	0.398																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1618-1620)Ggg>Tgg		N-glycanase 1							95.0	91.0	92.0					3																	25761622		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25761622C>A	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1672G>T	3.37:g.25761622C>A	ENSP00000280700:p.Gly558Trp					NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.G558W|NGLY1_ENST00000396649.3_Intron|NGLY1_ENST00000417874.2_Missense_Mutation_p.G516W|NGLY1_ENST00000422724.2_3'UTR	p.G540W	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			11	1725	-			558			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1618G>T	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782415	0.70222	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.79	5.79	0.91817	Peptide N glycanase, PAW domain (2);Galactose-binding domain-like (1);	0.470727	0.24267	N	0.040031	T	0.49389	0.1554	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.989;0.999;0.999	P;D;P	0.63488	0.791;0.915;0.813	T	0.46317	-0.9200	10	0.87932	D	0	-11.7942	13.6908	0.62544	0.0:0.9205:0.0:0.0795	.	516;540;558	B4DJE9;Q96IV0-2;Q96IV0	.;.;NGLY1_HUMAN	W	540;558;537;516	ENSP00000387430:G540W;ENSP00000280700:G558W;ENSP00000307980:G537W;ENSP00000389888:G516W	ENSP00000280700:G558W	G	-	1	0	NGLY1	25736626	1.000000	0.71417	0.999000	0.59377	0.691000	0.40173	3.686000	0.54685	2.750000	0.94351	0.563000	0.77884	GGG		0.398	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			17	121	1	0	4.75885e-15	0.033300	5.71062e-15	17	121				
AKAP2	11217	broad.mit.edu	37	9	112899854	112899854	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr9:112899854T>C	ENST00000259318.7	+	2	1544	c.1337T>C	c.(1336-1338)gTg>gCg	p.V446A	AKAP2_ENST00000510514.5_Missense_Mutation_p.V677A|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V677A|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.V677A|AKAP2_ENST00000555236.1_Missense_Mutation_p.V677A|AKAP2_ENST00000434623.2_Missense_Mutation_p.V535A|AKAP2_ENST00000374525.1_Missense_Mutation_p.V535A	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	446										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GTCCTCACTGTGGTCAAGGAT	0.527																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2029-2031)gTg>gCg									104.0	103.0	104.0					9																	112899854		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899854T>C	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1337T>C	9.37:g.112899854T>C	ENSP00000259318:p.Val446Ala					PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V677A|AKAP2_ENST00000434623.2_Missense_Mutation_p.V535A|AKAP2_ENST00000374525.1_Missense_Mutation_p.V535A|AKAP2_ENST00000259318.7_Missense_Mutation_p.V446A|AKAP2_ENST00000555236.1_Missense_Mutation_p.V677A|AKAP2_ENST00000510514.5_Missense_Mutation_p.V677A	p.V677A	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2210	+			446					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2030T>C	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477929	0.63849	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.58358	1.68;1.69;1.68;1.69;0.93;0.35;0.34;0.97	5.86	4.73	0.59995	.	0.117488	0.56097	N	0.000027	T	0.54287	0.1849	L	0.29908	0.895	0.42876	D	0.994155	D;D;P;D;D;B;B;B	0.67145	0.986;0.996;0.893;0.992;0.986;0.021;0.021;0.007	P;P;B;P;P;B;B;B	0.57776	0.668;0.827;0.446;0.719;0.528;0.009;0.009;0.004	T	0.57376	-0.7822	10	0.66056	D	0.02	-22.4039	10.9007	0.47049	0.0:0.073:0.0:0.927	.	446;535;529;535;536;677;677;495	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	A	677;677;677;677;535;535;495;446	ENSP00000363654:V677A;ENSP00000305861:V677A;ENSP00000451476:V677A;ENSP00000421522:V677A;ENSP00000404782:V535A;ENSP00000363649:V535A;ENSP00000419268:V495A;ENSP00000259318:V446A	ENSP00000259318:V446A	V	+	2	0	PALM2-AKAP2;AKAP2	111939675	1.000000	0.71417	0.992000	0.48379	0.885000	0.51271	5.727000	0.68523	1.044000	0.40200	0.533000	0.62120	GTG		0.527	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		12	198	0	0	0	0.080935	0	12	198				
DOPEY2	9980	broad.mit.edu	37	21	37653832	37653832	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr21:37653832T>C	ENST00000399151.3	+	32	6168	c.6083T>C	c.(6082-6084)aTg>aCg	p.M2028T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2028					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGAAAGCCATGCTGTTAAAG	0.393																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(6082-6084)aTg>aCg		dopey family member 2							88.0	88.0	88.0					21																	37653832		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37653832T>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6083T>C	21.37:g.37653832T>C	ENSP00000382104:p.Met2028Thr						p.M2028T	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			32	6168	+			2028					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.6083T>C	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050420	0.75960	.	.	ENSG00000142197	ENST00000399151	T	0.40225	1.04	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.989	T	0.64149	-0.6475	10	0.24483	T	0.36	-26.7126	15.3177	0.74095	0.0:0.0:0.0:1.0	.	2021;2028	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	T	2028	ENSP00000382104:M2028T	ENSP00000382104:M2028T	M	+	2	0	DOPEY2	36575702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.579000	0.82511	2.020000	0.59435	0.533000	0.62120	ATG		0.393	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		40	67	0	0	0	0.086207	0	40	67				
SMARCA5	8467	broad.mit.edu	37	4	144457701	144457701	+	Silent	SNP	A	A	G			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr4:144457701A>G	ENST00000283131.3	+	11	1827	c.1365A>G	c.(1363-1365)aaA>aaG	p.K455K		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	455					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AGTTGAGAAAATGTTGTAATC	0.373																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1363-1365)aaA>aaG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							114.0	108.0	110.0					4																	144457701		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144457701A>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1365A>G	4.37:g.144457701A>G							p.K455K	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			11	1827	+	all_hematologic(180;0.158)		455						Silent	SNP	ENST00000283131.3	37	c.1365A>G	CCDS3761.1																																																																																				0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			8	108	0	0	0	0.047766	0	8	108				
FERMT1	55612	broad.mit.edu	37	20	6060186	6060186	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr20:6060186G>A	ENST00000217289.4	-	14	2545	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.S329L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	586	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCTGTTATATGAAACTCCCAG	0.363																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1756-1758)tCa>tTa		fermitin family member 1							121.0	116.0	118.0					20																	6060186		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6060186G>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1757C>T	20.37:g.6060186G>A	ENSP00000217289:p.Ser586Leu					FERMT1_ENST00000536936.1_Missense_Mutation_p.S329L|FERMT1_ENST00000478194.1_5'UTR	p.S586L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			14	2545	-			586			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1757C>T	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281547	0.59758	.	.	ENSG00000101311	ENST00000217289;ENST00000536936	T;T	0.78126	-1.15;-1.15	5.44	5.44	0.79542	Pleckstrin homology-type (1);	0.057971	0.64402	D	0.000001	T	0.79845	0.4516	M	0.75447	2.3	0.80722	D	1	B	0.27068	0.167	B	0.26094	0.066	T	0.79120	-0.1934	10	0.87932	D	0	-46.2934	19.2496	0.93919	0.0:0.0:1.0:0.0	.	586	Q9BQL6	FERM1_HUMAN	L	586;329	ENSP00000217289:S586L;ENSP00000441063:S329L	ENSP00000217289:S586L	S	-	2	0	FERMT1	6008186	1.000000	0.71417	0.929000	0.37066	0.332000	0.28634	9.813000	0.99286	2.554000	0.86153	0.462000	0.41574	TCA		0.363	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		7	152	0	0	0	0.038147	0	7	152				
GLDC	2731	broad.mit.edu	37	9	6592871	6592871	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr9:6592871G>A	ENST00000321612.6	-	10	1531	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	461					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TCAAAAAGCCGAAAATTGATC	0.403																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1381-1383)Cgg>Tgg		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						62.0	64.0	64.0					9																	6592871		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6592871G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1381C>T	9.37:g.6592871G>A	ENSP00000370737:p.Arg461Trp						p.R461W	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	10	1531	-		Acute lymphoblastic leukemia(23;0.161)	461					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1381C>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571083	0.65765	.	.	ENSG00000178445	ENST00000321612	D	0.95918	-3.85	5.74	4.82	0.62117	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98331	1.0533	10	0.87932	D	0	-21.0009	13.3474	0.60582	0.0:0.0:0.5939:0.4061	.	461	P23378	GCSP_HUMAN	W	461	ENSP00000370737:R461W	ENSP00000370737:R461W	R	-	1	2	GLDC	6582871	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	4.304000	0.59104	1.383000	0.46405	0.563000	0.77884	CGG		0.403	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		5	104	0	0	0	0.014758	0	5	104				
LOC101927905	101927905	broad.mit.edu	37	12	8388326	8388326	+	lincRNA	SNP	G	G	C	rs113732517	byFrequency	TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr12:8388326G>C	ENST00000304751.9	+	0	316				FAM86FP_ENST00000427893.2_RNA																							CGAGCCTCCCGAGGGCTGCAC	0.577																																						ENST00000304751.9																			0																																																			101927905							g.chr12:8388326G>C																													12.37:g.8388326G>C						FAM86FP_ENST00000427893.2_RNA								0	316	+									RNA	SNP	ENST00000304751.9	37																																																																																						0.577	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			8	34	0	0	0	0.047766	0	8	34				
TSGA13	114960	broad.mit.edu	37	7	130357610	130357610	+	Missense_Mutation	SNP	G	G	A	rs199718973		TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr7:130357610G>A	ENST00000456951.1	-	7	1345	c.494C>T	c.(493-495)tCg>tTg	p.S165L	TSGA13_ENST00000356588.3_Missense_Mutation_p.S165L			Q96PP4	TSG13_HUMAN	testis specific, 13	165										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGGATCATCCGACAGTATCAA	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22491	0.0		0.0	False		,,,				2504	0.0					ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(493-495)tCg>tTg		testis specific, 13		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	191.0	179.0	183.0		494	-4.0	0.0	7		183	0,8600		0,0,4300	no	missense	TSGA13	NM_052933.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	165/276	130357610	1,13005	2203	4300	6503	SO:0001583	missense	114960							g.chr7:130357610G>A	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.494C>T	7.37:g.130357610G>A	ENSP00000406047:p.Ser165Leu					TSGA13_ENST00000356588.3_Missense_Mutation_p.S165L	p.S165L			Q96PP4	TSG13_HUMAN			7	1345	-	Melanoma(18;0.0435)		165					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.494C>T	CCDS5824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	4.893	0.165967	0.09339	2.27E-4	0.0	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.52	-4.03	0.04021	.	1.564820	0.04084	N	0.310093	T	0.11965	0.0291	N	0.02247	-0.625	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24584	-1.0156	9	0.07325	T	0.83	2.2619	5.5701	0.17192	0.5012:0.2464:0.2525:0.0	.	165	Q96PP4	TSG13_HUMAN	L	165	.	ENSP00000348996:S165L	S	-	2	0	TSGA13	130008150	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.150000	0.10189	-0.457000	0.07033	-1.788000	0.00630	TCG		0.433	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		45	74	0	0	0	0.139131	0	45	74				
RP11-24M17.5	0	broad.mit.edu	37	15	76074504	76074504	+	RNA	SNP	C	C	T	rs146281026	byFrequency	TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr15:76074504C>T	ENST00000395215.3	+	0	683				RN7SL319P_ENST00000480656.2_RNA																							TGAACGCACACGTGACACAGG	0.572													.|||	95	0.0189696	0.0121	0.0159	5008	,	,		16950	0.0635		0.001	False		,,,				2504	0.0031					ENST00000395215.3																			0																																																			0							g.chr15:76074504C>T																													15.37:g.76074504C>T														0	683	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.572	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	29	0	0	0	0.115264	0	3	29				
SUCLA2	8803	broad.mit.edu	37	13	48528324	48528324	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr13:48528324G>A	ENST00000378654.3	-	8	1114	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	SUCLA2_ENST00000543413.1_Missense_Mutation_p.T295I|SUCLA2_ENST00000544100.1_Missense_Mutation_p.T219I|SUCLA2_ENST00000534875.1_Missense_Mutation_p.T295I	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	353					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTGATGGACTGTAGCACCACC	0.358																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(1057-1059)aCa>aTa		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						64.0	65.0	65.0					13																	48528324		2203	4300	6503	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48528324G>A	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.1058C>T	13.37:g.48528324G>A	ENSP00000367923:p.Thr353Ile					SUCLA2_ENST00000543413.1_Missense_Mutation_p.T295I|SUCLA2_ENST00000544100.1_Missense_Mutation_p.T219I|SUCLA2_ENST00000534875.1_Missense_Mutation_p.T295I	p.T353I	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	8	1114	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	353					B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.1058C>T	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.112079	0.77210	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.48	5.48	0.80851	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94420	0.7640	10	0.87932	D	0	-23.1428	18.692	0.91586	0.0:0.0:1.0:0.0	.	353	Q9P2R7	SUCB1_HUMAN	I	353;331;283;219;295;295;181;283	ENSP00000367923:T353I;ENSP00000443412:T219I;ENSP00000438182:T295I;ENSP00000441056:T295I;ENSP00000392771:T283I	ENSP00000367909:T283I	T	-	2	0	SUCLA2	47426325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.503000	0.81632	2.736000	0.93811	0.555000	0.69702	ACA		0.358	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			7	124	0	0	0	0.029380	0	7	124				
RP11-423O2.5	0	broad.mit.edu	37	1	142803702	142803702	+	lincRNA	SNP	A	A	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr1:142803702A>T	ENST00000423385.1	-	0	1263																											ccatcataacatctgtgttcc	0.338																																						ENST00000423385.1																			0																																																			0							g.chr1:142803702A>T																													1.37:g.142803702A>T														0	1263	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.338	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	33	0	0	0	0.009096	0	4	33				
POU6F2	11281	broad.mit.edu	37	7	39500263	39500263	+	Missense_Mutation	SNP	A	A	G	rs200235640	byFrequency	TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr7:39500263A>G	ENST00000403058.1	+	10	1674	c.1520A>G	c.(1519-1521)cAg>cGg	p.Q507R	POU6F2_ENST00000518318.2_Missense_Mutation_p.Q507R|POU6F2_ENST00000559001.1_Missense_Mutation_p.Q452R	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	507	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q507L(1)|p.Q507R(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGGTGGGACAGGCTCTCAGT	0.602													A|||	214	0.0427316	0.0182	0.0331	5008	,	,		15334	0.0873		0.0596	False		,,,				2504	0.0194					ENST00000518318.2																			2	Substitution - Missense(2)	p.Q507L(1)|p.Q507R(1)	kidney(1)|endometrium(1)	NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1519-1521)cAg>cGg		POU class 6 homeobox 2							33.0	29.0	30.0					7																	39500263		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39500263A>G	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1520A>G	7.37:g.39500263A>G	ENSP00000384004:p.Gln507Arg					POU6F2_ENST00000403058.1_Missense_Mutation_p.Q507R|POU6F2_ENST00000559001.1_Missense_Mutation_p.Q452R	p.Q507R			P78424	PO6F2_HUMAN			9	1562	+			507			POU-specific.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.1520A>G	CCDS34620.2	559	0.25595238095238093	81	0.16463414634146342	87	0.24033149171270718	198	0.34615384615384615	193	0.2546174142480211	A	16.42	3.119102	0.56505	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.83250	-1.7;-1.7	5.48	5.48	0.80851	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.47190	1.495	0.52501	D	0.999958	D	0.64830	0.994	D	0.76575	0.988	T	0.00009	-1.2469	10	0.72032	D	0.01	.	15.5731	0.76354	1.0:0.0:0.0:0.0	.	507	P78424	PO6F2_HUMAN	R	507	ENSP00000384004:Q507R;ENSP00000430514:Q507R	ENSP00000384004:Q507R	Q	+	2	0	POU6F2	39466788	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.249000	0.95470	2.080000	0.62538	0.418000	0.28097	CAG		0.602	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		5	13	0	0	0	0.014758	0	5	13				
NUP62CL	54830	broad.mit.edu	37	X	106397335	106397335	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chrX:106397335A>C	ENST00000372466.4	-	5	587	c.336T>G	c.(334-336)aaT>aaG	p.N112K	NUP62CL_ENST00000372461.3_Intron	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	112					protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			lung(4)	4						CCATCTCACCATTCTCAATCA	0.378																																						ENST00000372466.4																			0				lung(4)	4						c.(334-336)aaT>aaG		nucleoporin 62kDa C-terminal like							100.0	86.0	91.0					X																	106397335		2203	4300	6503	SO:0001583	missense	54830				protein transport	nuclear pore	structural constituent of nuclear pore	g.chrX:106397335A>C	AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.336T>G	X.37:g.106397335A>C	ENSP00000361544:p.Asn112Lys					NUP62CL_ENST00000372461.3_Intron	p.N112K	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN			5	587	-			112					D3DUX4|Q8WVL6|Q9NXP2	Missense_Mutation	SNP	ENST00000372466.4	37	c.336T>G	CCDS14527.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.58|13.58	2.280545|2.280545	0.40294|0.40294	.|.	.|.	ENSG00000198088|ENSG00000198088	ENST00000372466;ENST00000372465;ENST00000421752|ENST00000432145	D;D|.	0.81908|.	-1.55;-1.55|.	5.81|5.81	3.34|3.34	0.38264|0.38264	Nucleoporin, NSP1-like, C-terminal (2);|.	0.085375|.	0.85682|.	D|.	0.000000|.	T|T	0.78444|0.78444	0.4284|0.4284	M|M	0.92784|0.92784	3.345|3.345	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|T	0.77851|0.77851	-0.2434|-0.2434	10|5	0.59425|.	D|.	0.04|.	-14.7723|-14.7723	8.1594|8.1594	0.31190|0.31190	0.8307:0.0:0.1693:0.0|0.8307:0.0:0.1693:0.0	.|.	112|.	Q9H1M0|.	N62CL_HUMAN|.	K|G	112|44	ENSP00000361544:N112K;ENSP00000405906:N112K|.	ENSP00000361543:N112K|.	N|W	-|-	3|1	2|0	NUP62CL|NUP62CL	106283991|106283991	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.162000|0.162000	0.22319|0.22319	2.384000|2.384000	0.44362|0.44362	0.282000|0.282000	0.22254|0.22254	0.425000|0.425000	0.28330|0.28330	AAT|TGG		0.378	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681		11	79	0	0	0	0.080935	0	11	79				
TRPM4	54795	broad.mit.edu	37	19	49669420	49669420	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr19:49669420C>A	ENST00000252826.5	+	3	341	c.215C>A	c.(214-216)aCc>aAc	p.T72N	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.T72N	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	72					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GAGAAGCCCACCGATGCCTAC	0.716																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(214-216)aCc>aAc		transient receptor potential cation channel, subfamily M, member 4							32.0	28.0	29.0					19																	49669420		2200	4298	6498	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49669420C>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.215C>A	19.37:g.49669420C>A	ENSP00000252826:p.Thr72Asn					TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.T72N	p.T72N	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	3	341	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	72					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.215C>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904245	0.92035	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.70164	-0.46;-0.46	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	D	0.84745	0.5540	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87718	0.2571	10	0.72032	D	0.01	-19.7125	17.4481	0.87584	0.0:1.0:0.0:0.0	.	72;72	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	N	72	ENSP00000252826:T72N;ENSP00000407492:T72N	ENSP00000252826:T72N	T	+	2	0	TRPM4	54361232	1.000000	0.71417	0.949000	0.38748	0.841000	0.47740	5.467000	0.66737	2.493000	0.84123	0.561000	0.74099	ACC		0.716	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		9	4	1	0	0.000274275	0.047766	0.00030856	9	4				
SCUBE2	57758	broad.mit.edu	37	11	9077430	9077430	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr11:9077430T>A	ENST00000309263.3	-	10	1189	c.1117A>T	c.(1117-1119)Acc>Tcc	p.T373S	SCUBE2_ENST00000450649.2_Missense_Mutation_p.T373S|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T373S|SCUBE2_ENST00000457346.2_Missense_Mutation_p.T373S|RP11-467K18.2_ENST00000521394.2_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	373	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGGTCACAGGTCCTATCCAAA	0.502																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1117-1119)Acc>Tcc		signal peptide, CUB domain, EGF-like 2							225.0	193.0	204.0					11																	9077430		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9077430T>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1117A>T	11.37:g.9077430T>A	ENSP00000310658:p.Thr373Ser					SCUBE2_ENST00000450649.2_Missense_Mutation_p.T373S|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.T373S|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T373S	p.T373S			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	10	1191	-			373			EGF-like 8; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1117A>T		.	.	.	.	.	.	.	.	.	.	T	17.91	3.505328	0.64410	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91	5.86	5.86	0.93980	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.044686	0.85682	D	0.000000	D	0.91099	0.7198	N	0.20610	0.595	0.54753	D	0.999981	D;P;P	0.58268	0.982;0.929;0.854	D;P;P	0.63597	0.916;0.702;0.803	D	0.89785	0.3964	10	0.30078	T	0.28	.	12.0759	0.53643	0.0:0.0684:0.0:0.9316	.	373;373;373	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	S	373	ENSP00000390481:T373S;ENSP00000310658:T373S;ENSP00000415187:T373S;ENSP00000429969:T373S	ENSP00000310658:T373S	T	-	1	0	SCUBE2	9034006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.977000	0.70492	2.237000	0.73441	0.460000	0.39030	ACC		0.502	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		16	217	0	0	0	0.146539	0	16	217				
GAN	8139	broad.mit.edu	37	16	81391531	81391531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr16:81391531C>A	ENST00000568107.2	+	5	1130	c.968C>A	c.(967-969)tCa>tAa	p.S323*		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	323					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GGAGTTCTCTCAGCAGGTACC	0.448																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(967-969)tCa>tAa		gigaxonin							104.0	88.0	93.0					16																	81391531		2202	4300	6502	SO:0001587	stop_gained	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81391531C>A	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.968C>A	16.37:g.81391531C>A	ENSP00000476795:p.Ser323*						p.S323*	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			5	1130	+		Colorectal(91;0.153)	323						Nonsense_Mutation	SNP	ENST00000568107.2	37	c.968C>A	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	40	8.059063	0.98632	.	.	ENSG00000127688	ENST00000248272	.	.	.	5.74	5.74	0.90152	.	0.461885	0.24732	N	0.036048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	.	.	.	X	323	.	ENSP00000248272:S323X	S	+	2	0	GAN	79949032	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.435000	0.80391	2.707000	0.92482	0.557000	0.71058	TCA		0.448	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			42	73	1	0	3.76604e-16	0.117977	4.67508e-16	42	73				
CCKBR	887	broad.mit.edu	37	11	6292569	6292569	+	Silent	SNP	C	C	T	rs138218747	byFrequency	TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr11:6292569C>T	ENST00000334619.2	+	5	1333	c.1140C>T	c.(1138-1140)taC>taT	p.Y380Y	CCKBR_ENST00000525462.1_Silent_p.Y449Y|CCKBR_ENST00000532715.1_Silent_p.Y296Y	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	380					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCTGAGCTACGCCTCGGCCT	0.622													T|||	2	0.000399361	0.0015	0.0	5008	,	,		17965	0.0		0.0	False		,,,				2504	0.0					ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1345-1347)taC>taT		cholecystokinin B receptor	Pentagastrin(DB00183)	T		8,4394	825.1+/-416.5	0,8,2193	141.0	116.0	124.0		1140	-3.4	0.5	11	dbSNP_134	124	0,8592		0,0,4296	no	coding-synonymous	CCKBR	NM_176875.2		0,8,6489	TT,TC,CC		0.0,0.1817,0.0616		380/448	6292569	8,12986	2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292569C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1140C>T	11.37:g.6292569C>T						CCKBR_ENST00000532715.1_Silent_p.Y296Y|CCKBR_ENST00000334619.2_Silent_p.Y380Y	p.Y449Y			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	1350	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	380					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.1347C>T	CCDS7761.1																																																																																				0.622	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		46	132	0	0	0	0.124865	0	46	132				
DCAF12L2	340578	broad.mit.edu	37	X	125299313	125299313	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chrX:125299313C>T	ENST00000360028.2	-	1	621	c.595G>A	c.(595-597)Gca>Aca	p.A199T	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A199T			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	199										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGGCGACTGCGAAGATCCAG	0.652																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(595-597)Gca>Aca		DDB1 and CUL4 associated factor 12-like 2							44.0	48.0	46.0					X																	125299313		2203	4299	6502	SO:0001583	missense	340578							g.chrX:125299313C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.595G>A	X.37:g.125299313C>T	ENSP00000353128:p.Ala199Thr					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A199T	p.A199T	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	675	-			199					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.595G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	6.953	0.545741	0.13312	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.61510	0.1;0.1	3.87	-0.26	0.12967	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.234300	0.06285	N	0.698082	T	0.50120	0.1597	M	0.62723	1.935	0.26532	N	0.974234	B	0.24043	0.096	B	0.16722	0.016	T	0.41448	-0.9508	10	0.51188	T	0.08	.	3.4144	0.07371	0.5076:0.2593:0.0:0.233	.	199	Q5VW00	DC122_HUMAN	T	199	ENSP00000441489:A199T;ENSP00000353128:A199T	ENSP00000353128:A199T	A	-	1	0	DCAF12L2	125126994	0.958000	0.32768	0.323000	0.25347	0.070000	0.16714	1.070000	0.30653	-0.196000	0.10366	-0.330000	0.08379	GCA		0.652	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		40	35	0	0	0	0.117977	0	40	35				
TMC3	342125	broad.mit.edu	37	15	81637115	81637115	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr15:81637115C>T	ENST00000359440.5	-	13	1645	c.1510G>A	c.(1510-1512)Gtt>Att	p.V504I	TMC3_ENST00000558726.1_Missense_Mutation_p.V505I|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACCTGACCAACGTATGTCTCC	0.478																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1513-1515)Gtt>Att		transmembrane channel-like 3							83.0	81.0	82.0					15																	81637115		1973	4149	6122	SO:0001583	missense	342125					integral to membrane		g.chr15:81637115C>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1510G>A	15.37:g.81637115C>T	ENSP00000352413:p.Val504Ile					RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.V504I	p.V505I			Q7Z5M5	TMC3_HUMAN			13	1648	-			504						Missense_Mutation	SNP	ENST00000359440.5	37	c.1513G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354015	0.82243	.	.	ENSG00000188869	ENST00000359440	T	0.67865	-0.29	4.37	4.37	0.52481	.	0.142711	0.46758	D	0.000261	T	0.70413	0.3221	L	0.58101	1.795	0.58432	D	0.99999	P;P	0.51537	0.733;0.946	B;P	0.50490	0.292;0.642	T	0.72567	-0.4254	10	0.44086	T	0.13	-25.8454	15.3008	0.73949	0.0:1.0:0.0:0.0	.	504;504	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	I	504	ENSP00000352413:V504I	ENSP00000352413:V504I	V	-	1	0	TMC3	79424170	1.000000	0.71417	0.930000	0.37139	0.803000	0.45373	6.585000	0.74062	2.244000	0.73946	0.655000	0.94253	GTT		0.478	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		5	66	0	0	0	0.014758	0	5	66				
AHSA1	10598	broad.mit.edu	37	14	77935516	77935516	+	Missense_Mutation	SNP	G	G	T	rs200120741	byFrequency	TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr14:77935516G>T	ENST00000216479.3	+	9	1101	c.941G>T	c.(940-942)cGg>cTg	p.R314L	SNORA46_ENST00000391069.1_RNA|AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	314					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGGAAGAGCGGACGCGACAG	0.577																																						ENST00000216479.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8						c.(940-942)cGg>cTg		AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)							173.0	160.0	164.0					14																	77935516		2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77935516G>T	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.941G>T	14.37:g.77935516G>T	ENSP00000216479:p.Arg314Leu					AHSA1_ENST00000555457.1_3'UTR	p.R314L	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	9	1101	+			314					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.941G>T	CCDS9863.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443833	0.63067	.	.	ENSG00000100591	ENST00000555133;ENST00000216479;ENST00000557476	T	0.44881	0.91	5.46	4.58	0.56647	START-like domain (1);	0.052426	0.85682	D	0.000000	T	0.59945	0.2231	M	0.79011	2.435	0.80722	D	1	D	0.58970	0.984	P	0.59703	0.862	T	0.61078	-0.7135	10	0.31617	T	0.26	-15.1909	14.346	0.66665	0.0709:0.0:0.9291:0.0	.	314	O95433	AHSA1_HUMAN	L	179;314;96	ENSP00000451474:R96L	ENSP00000216479:R314L	R	+	2	0	AHSA1	77005269	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.985000	0.49362	1.547000	0.49401	0.591000	0.81541	CGG		0.577	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		58	221	1	0	1.44317e-28	0.139131	1.8555e-28	58	221				
PJA2	9867	broad.mit.edu	37	5	108698654	108698654	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr5:108698654A>C	ENST00000361189.2	-	6	1778	c.1539T>G	c.(1537-1539)agT>agG	p.S513R	PJA2_ENST00000361557.3_Missense_Mutation_p.S513R	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	513					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TTCCCTCATCACTGCTGCTTT	0.408																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1537-1539)agT>agG		praja ring finger 2, E3 ubiquitin protein ligase							182.0	180.0	181.0					5																	108698654		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108698654A>C	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1539T>G	5.37:g.108698654A>C	ENSP00000354775:p.Ser513Arg					PJA2_ENST00000361557.3_Missense_Mutation_p.S513R	p.S513R	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	6	1778	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	513					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1539T>G	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752627	0.69533	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.06687	3.27;3.27	5.15	0.172	0.15031	.	0.065021	0.64402	D	0.000005	T	0.20088	0.0483	M	0.64404	1.975	0.41749	D	0.98965	D	0.89917	1.0	D	0.77557	0.99	T	0.00320	-1.1820	10	0.49607	T	0.09	-19.0396	8.9562	0.35818	0.6141:0.0:0.3859:0.0	.	513	O43164	PJA2_HUMAN	R	513	ENSP00000354775:S513R;ENSP00000355284:S513R	ENSP00000354775:S513R	S	-	3	2	PJA2	108726553	0.998000	0.40836	0.998000	0.56505	0.992000	0.81027	0.582000	0.23834	-0.094000	0.12374	0.383000	0.25322	AGT		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		32	120	0	0	0	0.059317	0	32	120				
SLC24A2	25769	broad.mit.edu	37	9	19520958	19520960	+	In_Frame_Del	DEL	CGG	CGG	-	rs575461406		TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr9:19520958_19520960delCGG	ENST00000341998.2	-	9	1729_1731	c.1668_1670delCCG	c.(1666-1671)gcccgg>gcg	p.R557del	SLC24A2_ENST00000286344.3_In_Frame_Del_p.R540del	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	557					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TAACCCCTTCCGGGCCACTATGA	0.507																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1666-1671)gcg>gc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2																																				SO:0001651	inframe_deletion	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19520958_19520960delCGG	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1668_1670delCCG	9.37:g.19520958_19520960delCGG	ENSP00000344801:p.Arg557del					SLC24A2_ENST00000286344.3_In_Frame_Del_p.AR539del	p.AR556del	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	9	1729_1731	-			556					B7ZLL8|Q9NTN5|Q9NZQ4	In_Frame_Del	DEL	ENST00000341998.2	37	c.1668_1670delCCG	CCDS6493.1																																																																																				0.507	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		10	101						10	101	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62708660	62708662	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr12:62708660_62708662delTGT	ENST00000280377.5	+	4	496_498	c.438_440delTGT	c.(436-441)aatgtt>aat	p.V148del	USP15_ENST00000312635.6_In_Frame_Del_p.V148del|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_In_Frame_Del_p.V148del|USP15_ENST00000353364.3_In_Frame_Del_p.V148del	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	148					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACATGAATAATGTTGTAACTCGA	0.315																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(436-441)aat>aa		ubiquitin specific peptidase 15																																				SO:0001651	inframe_deletion	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62708660_62708662delTGT	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.438_440delTGT	12.37:g.62708663_62708665delTGT	ENSP00000280377:p.Val148del					USP15_ENST00000393654.3_In_Frame_Del_p.NV146del|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_In_Frame_Del_p.NV146del|USP15_ENST00000353364.3_In_Frame_Del_p.NV146del	p.NV146del	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	4	496_498	+			146					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	In_Frame_Del	DEL	ENST00000280377.5	37	c.438_440delTGT	CCDS58251.1																																																																																				0.315	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		134	246						134	246	---	---	---	---
