#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
BRS3	680	broad.mit.edu	37	X	135574306	135574306	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:135574306C>T	ENST00000370648.3	+	3	1200	c.972C>T	c.(970-972)tgC>tgT	p.C324C		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	324					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCAATTCTTGCGTAAACCCCT	0.468																																						ENST00000370648.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23						c.(970-972)tgC>tgT		bombesin-like receptor 3							213.0	190.0	198.0					X																	135574306		2203	4300	6503	SO:0001819	synonymous_variant	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135574306C>T		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.972C>T	X.37:g.135574306C>T							p.C324C	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN			3	1200	+	Acute lymphoblastic leukemia(192;0.000127)		324						Silent	SNP	ENST00000370648.3	37	c.972C>T	CCDS14656.1																																																																																				0.468	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		7	178	0	0	0	1	0	7	178				
LLGL1	3996	broad.mit.edu	37	17	18145015	18145015	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:18145015C>T	ENST00000316843.4	+	18	2849	c.2753C>T	c.(2752-2754)aCg>aTg	p.T918M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	918					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TGCGTCTTTACGCGCCATGGC	0.652																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2752-2754)aCg>aTg		lethal giant larvae homolog 1 (Drosophila)							72.0	68.0	69.0					17																	18145015		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18145015C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2753C>T	17.37:g.18145015C>T	ENSP00000321537:p.Thr918Met						p.T918M	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			18	2849	+	all_neural(463;0.228)		918					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.2753C>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952596	0.53293	.	.	ENSG00000131899	ENST00000316843	T	0.12039	2.72	5.69	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	M	0.85777	2.775	0.58432	D	0.999997	D	0.71674	0.998	P	0.52514	0.701	T	0.45659	-0.9246	10	0.87932	D	0	-14.9222	16.7229	0.85414	0.0:0.8705:0.1295:0.0	.	918	Q15334	L2GL1_HUMAN	M	918	ENSP00000321537:T918M	ENSP00000321537:T918M	T	+	2	0	LLGL1	18085740	1.000000	0.71417	0.966000	0.40874	0.144000	0.21451	7.756000	0.85195	1.404000	0.46819	0.655000	0.94253	ACG		0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			4	110	0	0	0	1	0	4	110				
LY6G5C	80741	broad.mit.edu	37	6	31644773	31644773	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:31644773G>A	ENST00000383237.4	-	3	417	c.414C>T	c.(412-414)ttC>ttT	p.F138F	LY6G5C_ENST00000375860.2_Silent_p.F136F|LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375858.3_Silent_p.F135F			Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	138	UPAR/Ly6.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GGTCATTGCAGAAATCCAGGA	0.463																																						ENST00000375858.3																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						c.(403-405)ttC>ttT		lymphocyte antigen 6 complex, locus G5C							122.0	133.0	129.0					6																	31644773		1511	2709	4220	SO:0001819	synonymous_variant	80741					extracellular region		g.chr6:31644773G>A		CCDS34401.1, CCDS34401.2	6p21	2010-02-17	2002-07-29	2002-08-01	ENSG00000204428	ENSG00000204428			13932	protein-coding gene	gene with protein product		610434	"""chromosome 6 open reading frame 20"""	C6orf20		12079290	Standard	NM_025262		Approved	G5c, NG33	uc003nvu.2	Q5SRR4	OTTHUMG00000031228	ENST00000383237.4:c.414C>T	6.37:g.31644773G>A						LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000383237.4_Silent_p.F138F|LY6G5C_ENST00000375860.2_Silent_p.F136F	p.F135F	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN			3	413	-			138			UPAR/Ly6.		A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1	Silent	SNP	ENST00000383237.4	37	c.405C>T	CCDS34401.2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362581	0.41902	.	.	ENSG00000204428	ENST00000375863	.	.	.	3.54	2.62	0.31277	.	.	.	.	.	T	0.42607	0.1210	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33803	-0.9854	4	.	.	.	-4.9213	8.0457	0.30547	0.0:0.0:0.7583:0.2417	.	.	.	.	F	213	.	.	S	-	2	0	LY6G5C	31752752	1.000000	0.71417	0.991000	0.47740	0.888000	0.51559	2.270000	0.43355	1.006000	0.39211	0.313000	0.20887	TCT		0.463	LY6G5C-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076473.4			14	84	0	0	0	1	0	14	84				
ARFGEF2	10564	broad.mit.edu	37	20	47592595	47592595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:47592595G>A	ENST00000371917.4	+	14	1817	c.1817G>A	c.(1816-1818)gGc>gAc	p.G606D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	606					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GATGGGAAAGGCCTTGACATG	0.532																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1816-1818)gGc>gAc		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							108.0	85.0	93.0					20																	47592595		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47592595G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1817G>A	20.37:g.47592595G>A	ENSP00000360985:p.Gly606Asp						p.G606D	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		14	1817	+			606					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.1817G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630546	0.28978	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.22336	1.96	5.67	5.67	0.87782	Armadillo-type fold (1);	0.791014	0.12406	N	0.471758	T	0.17534	0.0421	N	0.22421	0.69	0.37574	D	0.919545	B	0.02656	0.0	B	0.04013	0.001	T	0.19224	-1.0312	10	0.10636	T	0.68	.	19.7692	0.96356	0.0:0.0:1.0:0.0	.	606	Q9Y6D5	BIG2_HUMAN	D	606	ENSP00000360985:G606D	ENSP00000360985:G606D	G	+	2	0	ARFGEF2	47026002	0.984000	0.35163	1.000000	0.80357	0.953000	0.61014	1.886000	0.39688	2.672000	0.90937	0.655000	0.94253	GGC		0.532	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		6	39	0	0	0	1	0	6	39				
SLC17A4	10050	broad.mit.edu	37	6	25779395	25779395	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:25779395G>A	ENST00000377905.4	+	12	1592	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	SLC17A4_ENST00000439485.2_Silent_p.E261E|SLC17A4_ENST00000397076.2_3'UTR	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	491					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCTAAAGAGCAGACATTCA	0.478																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1471-1473)gaG>gaA		solute carrier family 17, member 4							181.0	171.0	175.0					6																	25779395		2203	4300	6503	SO:0001819	synonymous_variant	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25779395G>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1473G>A	6.37:g.25779395G>A						SLC17A4_ENST00000439485.2_Silent_p.E261E|SLC17A4_ENST00000397076.2_3'UTR	p.E491E	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			12	1592	+			491					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	c.1473G>A	CCDS4564.1																																																																																				0.478	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			48	106	0	0	0	1	0	48	106				
FAM65C	140876	broad.mit.edu	37	20	49225174	49225174	+	Silent	SNP	C	C	T	rs144349290		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:49225174C>T	ENST00000327979.2	-	10	1185	c.774G>A	c.(772-774)acG>acA	p.T258T	FAM65C_ENST00000535356.1_Silent_p.T262T|FAM65C_ENST00000045083.2_Silent_p.T258T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	258										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTCATGCAGCGTGGGGATGA	0.657																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(772-774)acG>acA		family with sequence similarity 65, member C		T		0,4406		0,0,2203	132.0	117.0	122.0		774	-1.2	1.0	20	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM65C	NM_080829.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		258/947	49225174	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140876							g.chr20:49225174C>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.774G>A	20.37:g.49225174C>T						FAM65C_ENST00000535356.1_Silent_p.T262T|FAM65C_ENST00000045083.2_Silent_p.T258T	p.T258T			Q96MK2	FA65C_HUMAN			10	1185	-			258					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.774G>A	CCDS13431.2																																																																																				0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			10	156	0	0	0	1	0	10	156				
C2orf71	388939	broad.mit.edu	37	2	29287763	29287763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:29287763G>A	ENST00000331664.5	-	2	3838	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V	C2orf71_ENST00000602958.1_5'Flank	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1280					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGGCTGCGCCTCTGGCTG	0.657																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(3838-3840)gCg>gTg		chromosome 2 open reading frame 71							31.0	38.0	35.0					2																	29287763		2063	4201	6264	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29287763G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3839C>T	2.37:g.29287763G>A	ENSP00000332809:p.Ala1280Val						p.A1280V	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			2	3838	-			1280						Missense_Mutation	SNP	ENST00000331664.5	37	c.3839C>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	9.521	1.108231	0.20714	.	.	ENSG00000179270	ENST00000331664	T	0.19250	2.16	4.08	1.18	0.20946	.	1.617280	0.03453	N	0.210964	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.26121	-1.0112	10	0.45353	T	0.12	5.4767	4.5814	0.12260	0.1886:0.0:0.6379:0.1735	.	1280	A6NGG8	CB071_HUMAN	V	1280	ENSP00000332809:A1280V	ENSP00000332809:A1280V	A	-	2	0	C2orf71	29141267	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.785000	0.26830	0.109000	0.17891	-0.119000	0.15052	GCG		0.657	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		14	30	0	0	0	1	0	14	30				
CDH8	1006	broad.mit.edu	37	16	61760949	61760949	+	Intron	SNP	G	G	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr16:61760949G>C	ENST00000577390.1	-	9	2491				CDH8_ENST00000584337.1_Missense_Mutation_p.L529V|CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCAAATATGAGACAGTTGTAT	0.363																																						ENST00000584337.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1585-1587)Ctc>Gtc		cadherin 8, type 2							76.0	75.0	75.0					16																	61760949		2203	4297	6500	SO:0001627	intron_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61760949G>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1536+48C>G	16.37:g.61760949G>C						CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577390.1_Intron|CDH8_ENST00000577730.1_Intron	p.L529V			P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	9	2106	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	639			Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1585C>G	CCDS10802.1																																																																																				0.363	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		6	79	0	0	0	1	0	6	79				
NRXN3	9369	broad.mit.edu	37	14	79746731	79746731	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:79746731G>T	ENST00000557594.1	+	1	1050	c.97G>T	c.(97-99)Gta>Tta	p.V33L	NRXN3_ENST00000428277.2_Missense_Mutation_p.V33L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.V33L	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	33					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGTCAGCTCTGTATGGAGTTC	0.587																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(97-99)Gta>Tta		neurexin 3							211.0	191.0	198.0					14																	79746731		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79746731G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.97G>T	14.37:g.79746731G>T	ENSP00000451672:p.Val33Leu					NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.V33L|NRXN3_ENST00000557594.1_Missense_Mutation_p.V33L	p.V33L	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	1	976	+		Renal(4;0.00876)	33					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.97G>T		.	.	.	.	.	.	.	.	.	.	G	23.7	4.446115	0.84101	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35789	1.42;1.49;1.29	5.86	5.86	0.93980	.	.	.	.	.	T	0.28300	0.0699	L	0.27053	0.805	0.80722	D	1	B;B;B	0.29301	0.241;0.241;0.067	B;B;B	0.26517	0.07;0.07;0.032	T	0.04090	-1.0978	8	.	.	.	.	18.3577	0.90364	0.0:0.0:1.0:0.0	.	33;33;33	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	L	33	ENSP00000451672:V33L;ENSP00000281127:V33L;ENSP00000394426:V33L	.	V	+	1	0	NRXN3	78816484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.573000	0.67417	2.778000	0.95560	0.655000	0.94253	GTA		0.587	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		7	146	1	0	0.00198382	1	0.00206161	7	146				
SH3GL2	6456	broad.mit.edu	37	9	17747099	17747099	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:17747099C>T	ENST00000380607.4	+	2	201	c.81C>T	c.(79-81)acC>acT	p.T27T	SH3GL2_ENST00000537391.1_5'UTR	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	27	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CTGAAGGAACCAAGCTAGATG	0.363																																						ENST00000380607.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(79-81)acC>acT		SH3-domain GRB2-like 2							129.0	111.0	117.0					9																	17747099		2203	4300	6503	SO:0001819	synonymous_variant	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17747099C>T	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.81C>T	9.37:g.17747099C>T						SH3GL2_ENST00000537391.1_5'UTR	p.T27T	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	2	201	+			27			BAR.|Binds and tubulates liposomes (By similarity).		B2R618|Q9NQK5	Silent	SNP	ENST00000380607.4	37	c.81C>T	CCDS6483.1																																																																																				0.363	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		5	50	0	0	0	1	0	5	50				
ZHX1	11244	broad.mit.edu	37	8	124266694	124266694	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:124266694A>G	ENST00000522655.1	-	3	2033	c.1493T>C	c.(1492-1494)aTg>aCg	p.M498T	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.M498T|ZHX1_ENST00000395571.3_Missense_Mutation_p.M498T			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	498	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTTATTTTCATAAGTCTGAT	0.358																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1492-1494)aTg>aCg		zinc fingers and homeoboxes 1							112.0	120.0	118.0					8																	124266694		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266694A>G	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1493T>C	8.37:g.124266694A>G	ENSP00000428821:p.Met498Thr					ZHX1_ENST00000297857.2_Missense_Mutation_p.M498T|ZHX1_ENST00000522655.1_Missense_Mutation_p.M498T|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.M498T	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2110	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		498			Required for interaction with NFYA.		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.1493T>C	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.70|10.70	1.425151|1.425151	0.25639|0.25639	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	D;D;D|.	0.95554|.	-3.74;-3.74;-3.74|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.119837|.	0.85682|.	D|.	0.000000|.	T|.	0.71592|.	0.3358|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|.	0.43231|.	0.801|.	B|.	0.43225|.	0.412|.	T|.	0.70890|.	-0.4749|.	9|.	0.09590|.	T|.	0.72|.	-15.879|-15.879	15.571|15.571	0.76337|0.76337	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	498|.	Q9UKY1|.	ZHX1_HUMAN|.	T|R	498|183	ENSP00000297857:M498T;ENSP00000378938:M498T;ENSP00000428821:M498T|.	ENSP00000297857:M498T|.	M|X	-|-	2|1	0|0	ZHX1|ZHX1	124335875|124335875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.135000|9.135000	0.94478|0.94478	2.257000|2.257000	0.74773|0.74773	0.454000|0.454000	0.30748|0.30748	ATG|TGA		0.358	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			18	221	0	0	0	1	0	18	221				
SEPN1	57190	broad.mit.edu	37	1	26135530	26135530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:26135530G>A	ENST00000374315.1	+	5	697	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	SEPN1_ENST00000361547.2_Missense_Mutation_p.R254Q|SEPN1_ENST00000354177.4_Missense_Mutation_p.R220Q	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	254						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ATCATCCACCGGCTCCTGAGC	0.667																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(760-762)cGg>cAg		selenoprotein N, 1							66.0	72.0	70.0					1																	26135530		2059	4183	6242	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26135530G>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.659G>A	1.37:g.26135530G>A	ENSP00000363434:p.Arg220Gln					SEPN1_ENST00000374315.1_Missense_Mutation_p.R220Q|SEPN1_ENST00000354177.4_Missense_Mutation_p.R220Q	p.R254Q	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	6	816	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	254					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.761G>A	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906760	0.52333	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.87729	-2.29;-2.28;-2.28	5.84	2.95	0.34219	.	0.163419	0.53938	D	0.000051	T	0.77089	0.4079	L	0.29908	0.895	0.32526	N	0.535641	B;B	0.19073	0.032;0.033	B;B	0.10450	0.005;0.002	T	0.71104	-0.4689	10	0.19147	T	0.46	-24.227	9.9185	0.41450	0.3796:0.0:0.6204:0.0	.	220;254	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	Q	254;220;220	ENSP00000355141:R254Q;ENSP00000346109:R220Q;ENSP00000363434:R220Q	ENSP00000346109:R220Q	R	+	2	0	SEPN1	26008117	0.878000	0.30173	1.000000	0.80357	0.997000	0.91878	0.984000	0.29565	0.823000	0.34589	0.561000	0.74099	CGG		0.667	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		16	106	0	0	0	1	0	16	106				
ADAM30	11085	broad.mit.edu	37	1	120438457	120438457	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:120438457C>G	ENST00000369400.1	-	1	661	c.503G>C	c.(502-504)gGg>gCg	p.G168A		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	168					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)		AACCTGATTCCCAAACTGCTC	0.438																																						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.(502-504)gGg>gCg		ADAM metallopeptidase domain 30							86.0	86.0	86.0					1																	120438457		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438457C>G	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.503G>C	1.37:g.120438457C>G	ENSP00000358407:p.Gly168Ala						p.G168A	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	661	-	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)	168					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.503G>C	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	0.461	-0.888859	0.02511	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01106	5.33	4.67	-7.55	0.01327	.	3.718290	0.01303	N	0.010356	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.46843	-0.9162	10	0.33141	T	0.24	.	1.6146	0.02701	0.1981:0.2877:0.3301:0.1841	.	168	Q9UKF2	ADA30_HUMAN	A	168	ENSP00000358407:G168A	ENSP00000358407:G168A	G	-	2	0	ADAM30	120239980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.162000	0.01277	-1.285000	0.02387	0.563000	0.77884	GGG		0.438	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		36	49	0	0	0	1	0	36	49				
NOX5	79400	broad.mit.edu	37	15	69348973	69348973	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr15:69348973G>A	ENST00000388866.3	+	16	2276	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	NOX5_ENST00000530406.2_Silent_p.L717L|NOX5_ENST00000260364.5_Silent_p.L727L|NOX5_ENST00000448182.3_Silent_p.L699L|NOX5_ENST00000455873.3_Silent_p.L710L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	745					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCCAGCTCTGGCCAAGGTGC	0.537																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2179-2181)ctG>ctA		NADPH oxidase, EF-hand calcium binding domain 5							86.0	82.0	83.0					15																	69348973		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69348973G>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2235G>A	15.37:g.69348973G>A						NOX5_ENST00000455873.3_Silent_p.L710L|NOX5_ENST00000388866.3_Silent_p.L745L|NOX5_ENST00000448182.3_Silent_p.L699L|NOX5_ENST00000530406.2_Silent_p.L717L	p.L727L			Q96PH1	NOX5_HUMAN			17	2482	+			745					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.2181G>A	CCDS32276.2																																																																																				0.537	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		5	69	0	0	0	1	0	5	69				
TBC1D25	4943	broad.mit.edu	37	X	48418056	48418056	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:48418056C>T	ENST00000376771.4	+	6	1101	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	254	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGGCCGAGAGCGGATGGACTA	0.587																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(760-762)Cgg>Tgg		TBC1 domain family, member 25							71.0	66.0	68.0					X																	48418056		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418056C>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.760C>T	X.37:g.48418056C>T	ENSP00000365962:p.Arg254Trp					TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	p.R254W	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	1101	+			254			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.760C>T	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299280	0.60195	.	.	ENSG00000068354	ENST00000376771	T	0.05081	3.5	5.68	2.86	0.33363	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.27054	-1.0085	10	0.87932	D	0	-4.7493	12.396	0.55384	0.4381:0.5619:0.0:0.0	.	258;196;254	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	W	254	ENSP00000365962:R254W	ENSP00000365962:R254W	R	+	1	2	TBC1D25	48303000	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.025000	0.30090	0.164000	0.19529	0.529000	0.55759	CGG		0.587	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		24	35	0	0	0	1	0	24	35				
N4BP2L2	10443	broad.mit.edu	37	13	33017399	33017399	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:33017399C>T	ENST00000504114.1	-	6	1321	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S	N4BP2L2_ENST00000357505.6_Silent_p.S410S|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Silent_p.S425S			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGCTGCCACCGAAGTGAAGA	0.408																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1228-1230)tcG>tcA		NEDD4 binding protein 2-like 2							99.0	96.0	97.0					13																	33017399		1936	4134	6070	SO:0001819	synonymous_variant	10443							g.chr13:33017399C>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1230G>A	13.37:g.33017399C>T						N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000504114.1_Silent_p.S410S|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Silent_p.S425S	p.S410S	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1334	-		Lung SC(185;0.0262)	0					A3KME8	Silent	SNP	ENST00000504114.1	37	c.1230G>A																																																																																					0.408	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		24	86	0	0	0	1	0	24	86				
KMO	8564	broad.mit.edu	37	1	241749983	241749983	+	Silent	SNP	C	C	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:241749983C>G	ENST00000366559.4	+	11	1271	c.960C>G	c.(958-960)ggC>ggG	p.G320G	KMO_ENST00000366558.3_Silent_p.G320G|KMO_ENST00000366557.4_Silent_p.G320G	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			tgtttCAGGGCTTTGAAGACT	0.303																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(958-960)ggC>ggG		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							99.0	98.0	98.0					1																	241749983		2203	4300	6503	SO:0001819	synonymous_variant	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241749983C>G	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.960C>G	1.37:g.241749983C>G						KMO_ENST00000366558.3_Silent_p.G320G|KMO_ENST00000366557.4_Silent_p.G320G	p.G320G	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		11	1271	+	Ovarian(103;0.103)|all_lung(81;0.23)		320						Silent	SNP	ENST00000366559.4	37	c.960C>G	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825209	0.32237	.	.	ENSG00000117009	ENST00000366555	.	.	.	6.17	0.963	0.19649	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	.	4.5408	0.12056	0.3975:0.4027:0.1283:0.0714	.	.	.	.	V	6	.	.	L	+	1	0	KMO	239816606	0.644000	0.27277	0.996000	0.52242	0.981000	0.71138	-0.252000	0.08806	-0.062000	0.13088	0.655000	0.94253	CTT		0.303	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		3	87	0	0	0	1	0	3	87				
ITGA4	3676	broad.mit.edu	37	2	182339701	182339701	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:182339701G>C	ENST00000397033.2	+	3	764	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.E112Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	112					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CCCTAATGGAGAACCTTGTGG	0.403																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(334-336)Gaa>Caa		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						95.0	90.0	92.0					2																	182339701		1862	4100	5962	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182339701G>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.334G>C	2.37:g.182339701G>C	ENSP00000380227:p.Glu112Gln					ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.E112Q	p.E112Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		3	764	+			112					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.334G>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516620	0.44763	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.55052	0.54;0.54;0.54	5.28	5.28	0.74379	.	0.387872	0.28031	N	0.016866	T	0.44008	0.1273	L	0.33485	1.01	0.37421	D	0.91363	B;B	0.18310	0.005;0.027	B;B	0.19946	0.027;0.013	T	0.41360	-0.9513	10	0.34782	T	0.22	.	15.6124	0.76737	0.0:0.1377:0.8623:0.0	.	112;112	E7EP60;P13612	.;ITA4_HUMAN	Q	112	ENSP00000340149:E112Q;ENSP00000380227:E112Q;ENSP00000233573:E112Q	ENSP00000233573:E112Q	E	+	1	0	ITGA4	182047946	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.847000	0.69451	2.623000	0.88846	0.655000	0.94253	GAA		0.403	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			3	59	0	0	0	1	0	3	59				
ALOX12B	242	broad.mit.edu	37	17	7976179	7976179	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7976179G>A	ENST00000319144.4	-	15	2276	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	672	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGTCGTGTGAGATCTGGTTCA	0.607										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(2014-2016)atC>atT		arachidonate 12-lipoxygenase, 12R type							164.0	143.0	150.0					17																	7976179		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7976179G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.2016C>T	17.37:g.7976179G>A		Multiple Myeloma(8;0.094)					p.I672I	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			15	2276	-			672			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.2016C>T	CCDS11129.1																																																																																				0.607	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			5	75	0	0	0	1	0	5	75				
ALAS2	212	broad.mit.edu	37	X	55042060	55042060	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:55042060C>T	ENST00000330807.5	-	8	1256	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Silent_p.G360G|ALAS2_ENST00000335854.4_Silent_p.G336G	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	373					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATCACGCTCCCCAATCCCAG	0.527																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1117-1119)ggG>ggA		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						94.0	82.0	86.0					X																	55042060		2203	4300	6503	SO:0001819	synonymous_variant	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042060C>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1119G>A	X.37:g.55042060C>T						ALAS2_ENST00000335854.4_Silent_p.G336G|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Silent_p.G360G	p.G373G	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			8	1256	-			373					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	c.1119G>A	CCDS14366.1																																																																																				0.527	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		22	73	0	0	0	1	0	22	73				
HSD17B1	3292	broad.mit.edu	37	17	40705302	40705302	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:40705302C>T	ENST00000585807.1	+	2	3978	c.258C>T	c.(256-258)gaC>gaT	p.D86D	HSD17B1_ENST00000225929.5_Silent_p.D86D|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	86					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GCCGCGTGGACGTGCTGGGTG	0.642																																						ENST00000585807.1																			0				NS(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(256-258)gaC>gaT		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						28.0	32.0	31.0					17																	40705302		2203	4299	6502	SO:0001819	synonymous_variant	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40705302C>T		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.258C>T	17.37:g.40705302C>T						RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.D86D|RP11-400F19.6_ENST00000590513.1_RNA	p.D86D	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	2	3978	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	86					B3KXS1|Q2M2L8	Silent	SNP	ENST00000585807.1	37	c.258C>T	CCDS11428.1																																																																																				0.642	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		4	40	0	0	0	1	0	4	40				
AMBP	259	broad.mit.edu	37	9	116840418	116840418	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:116840418C>T	ENST00000265132.3	-	1	334	c.72G>A	c.(70-72)acG>acA	p.T24T		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	24					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(70-72)acG>acA		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						108.0	118.0	114.0					9																	116840418		2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116840418C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.72G>A	9.37:g.116840418C>T							p.T24T	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			1	334	-			24					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.72G>A	CCDS6800.1																																																																																				0.617	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		5	91	0	0	0	1	0	5	91				
TPP2	7174	broad.mit.edu	37	13	103287941	103287941	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:103287941G>A	ENST00000376065.4	+	12	1434	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	TPP2_ENST00000376052.3_Silent_p.L466L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	466	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTTAGGTCTGAAAGCTAATA	0.408																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(1396-1398)ctG>ctA		tripeptidyl peptidase II							105.0	102.0	103.0					13																	103287941		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103287941G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1398G>A	13.37:g.103287941G>A						TPP2_ENST00000376065.4_Silent_p.L466L	p.L466L			P29144	TPP2_HUMAN			12	1414	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		466					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.1398G>A	CCDS9502.1																																																																																				0.408	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			4	54	0	0	0	1	0	4	54				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170154	20170154	+	RNA	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr15:20170154A>G	ENST00000338912.5	-	0	117									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		GCCTTGCAGGAGATCCTCACT	0.572																																						ENST00000338912.5																			0																				80.0	77.0	78.0					15																	20170154		1929	4134	6063			0							g.chr15:20170154A>G	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170154A>G														0	117	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.572	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			25	30	0	0	0	1	0	25	30				
NEK1	4750	broad.mit.edu	37	4	170428878	170428878	+	Silent	SNP	G	G	A	rs375433061		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:170428878G>A	ENST00000439128.2	-	20	2455	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	NEK1_ENST00000507142.1_Silent_p.I633I|NEK1_ENST00000511633.1_Silent_p.I589I|NEK1_ENST00000512193.1_Silent_p.I536I|NEK1_ENST00000510533.1_Silent_p.I561I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	605					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGTGATTCGATTTTTTTGC	0.338																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1813-1815)atC>atT		NIMA-related kinase 1							125.0	115.0	118.0					4																	170428878		1833	4087	5920	SO:0001819	synonymous_variant	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170428878G>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1815C>T	4.37:g.170428878G>A						NEK1_ENST00000510533.1_Silent_p.I561I|NEK1_ENST00000512193.1_Silent_p.I536I|NEK1_ENST00000511633.1_Silent_p.I589I|NEK1_ENST00000507142.1_Silent_p.I633I	p.I605I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	20	2455	-		Prostate(90;0.00601)|Renal(120;0.0183)	605					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	ENST00000439128.2	37	c.1815C>T	CCDS47162.1																																																																																				0.338	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			7	45	0	0	0	1	0	7	45				
OR5V1	81696	broad.mit.edu	37	6	29323830	29323830	+	Missense_Mutation	SNP	G	G	A	rs150457685		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:29323830G>A	ENST00000377154.1	-	4	442	c.143C>T	c.(142-144)aCg>aTg	p.T48M	OR5V1_ENST00000543825.1_Missense_Mutation_p.T48M			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTCACAGTCGTCAAGATAAT	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		18339	0.0		0.001	False		,,,				2504	0.0				Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(142-144)aCg>aTg		olfactory receptor, family 5, subfamily V, member 1							138.0	140.0	139.0					6																	29323830		2203	4300	6503	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323830G>A		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.143C>T	6.37:g.29323830G>A	ENSP00000366359:p.Thr48Met					OR5V1_ENST00000543825.1_Missense_Mutation_p.T48M	p.T48M			Q9UGF6	OR5V1_HUMAN			4	442	-			48					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.143C>T	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	A	8.253	0.809510	0.16537	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.03124	4.04;4.04	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01320	0.0043	L	0.33792	1.035	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46386	-0.9195	9	0.66056	D	0.02	-18.7518	9.9169	0.41439	0.9169:0.0:0.0831:0.0	.	48	Q9UGF6	OR5V1_HUMAN	M	48	ENSP00000366359:T48M;ENSP00000443309:T48M	ENSP00000366356:T48M	T	-	2	0	OR5V1	29431809	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.425000	0.21346	0.814000	0.34374	-0.434000	0.05882	ACG		0.388	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			4	133	0	0	0	1	0	4	133				
IL12B	3593	broad.mit.edu	37	5	158753714	158753714	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:158753714A>G	ENST00000231228.2	-	2	532	c.77T>C	c.(76-78)cTg>cCg	p.L26P		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	26	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTTCTTCAGTTCCCATAT	0.502																																						ENST00000231228.2																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(76-78)cTg>cCg		interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)							77.0	81.0	80.0					5																	158753714		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158753714A>G	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.77T>C	5.37:g.158753714A>G	ENSP00000231228:p.Leu26Pro						p.L26P	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	532	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	26			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000231228.2	37	c.77T>C	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831971	0.71258	.	.	ENSG00000113302	ENST00000231228	T	0.25749	1.78	5.64	5.64	0.86602	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070966	0.56097	D	0.000023	T	0.54127	0.1839	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59161	-0.7506	10	0.54805	T	0.06	.	12.5557	0.56252	1.0:0.0:0.0:0.0	.	26	P29460	IL12B_HUMAN	P	26	ENSP00000231228:L26P	ENSP00000231228:L26P	L	-	2	0	IL12B	158686292	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.556000	0.60775	2.285000	0.76669	0.533000	0.62120	CTG		0.502	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		8	60	0	0	0	1	0	8	60				
ACO1	48	broad.mit.edu	37	9	32436370	32436370	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:32436370C>T	ENST00000309951.6	+	18	2360	c.2222C>T	c.(2221-2223)aCt>aTt	p.T741I	ACO1_ENST00000541043.1_Missense_Mutation_p.T642I|ACO1_ENST00000379923.1_Missense_Mutation_p.T741I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	741					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)		GCACCACAGACTATCCATCTG	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.(2221-2223)aCt>aTt		aconitase 1, soluble							158.0	149.0	152.0					9																	32436370		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.chr9:32436370C>T	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.2222C>T	9.37:g.32436370C>T	ENSP00000309477:p.Thr741Ile					ACO1_ENST00000541043.1_Missense_Mutation_p.T642I|ACO1_ENST00000309951.5_Missense_Mutation_p.T741I	p.T741I	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	19	2428	+			741					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.2222C>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209747	0.95069	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.40756	1.02;1.02;2.03	5.95	5.95	0.96441	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75110	-0.3433	10	0.87932	D	0	-5.5547	19.1646	0.93551	0.0:1.0:0.0:0.0	.	741	P21399	ACOC_HUMAN	I	741;741;642	ENSP00000309477:T741I;ENSP00000369255:T741I;ENSP00000438733:T642I	ENSP00000309477:T741I	T	+	2	0	ACO1	32426370	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	ACT		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		6	196	0	0	0	1	0	6	196				
MFSD8	256471	broad.mit.edu	37	4	128851943	128851943	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:128851943T>C	ENST00000296468.3	-	10	1020	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.Y253C|MFSD8_ENST00000541133.1_3'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	298					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AGTCCAGGCATACATATCCAT	0.318																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(892-894)tAt>tGt		major facilitator superfamily domain containing 8							102.0	106.0	105.0					4																	128851943		2203	4297	6500	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128851943T>C	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.893A>G	4.37:g.128851943T>C	ENSP00000296468:p.Tyr298Cys					MFSD8_ENST00000513559.1_Missense_Mutation_p.Y253C|MFSD8_ENST00000541133.1_3'UTR|MFSD8_ENST00000515130.1_5'UTR	p.Y298C	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			10	1020	-			298					B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.893A>G	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968265	0.34754	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	T;T	0.59502	0.26;0.26	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.211578	0.42548	D	0.000692	T	0.76912	0.4054	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.982;0.995	T	0.81357	-0.0969	10	0.87932	D	0	-12.5426	14.2647	0.66110	0.0:0.0:0.0:1.0	.	260;298	B7Z280;Q8NHS3	.;MFSD8_HUMAN	C	298;253	ENSP00000296468:Y298C;ENSP00000425000:Y253C	ENSP00000296468:Y298C	Y	-	2	0	MFSD8	129071393	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	4.060000	0.57477	1.956000	0.56807	0.383000	0.25322	TAT		0.318	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		8	151	0	0	0	1	0	8	151				
ACACB	32	broad.mit.edu	37	12	109644646	109644646	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:109644646C>T	ENST00000338432.7	+	20	3164	c.3045C>T	c.(3043-3045)ccC>ccT	p.P1015P	ACACB_ENST00000377854.5_Silent_p.P1015P|ACACB_ENST00000377848.3_Silent_p.P1015P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1015					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGCCAGAGCCCGTTTTTAGCA	0.527																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3043-3045)ccC>ccT		acetyl-CoA carboxylase beta	Biotin(DB00121)						113.0	105.0	108.0					12																	109644646		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109644646C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3045C>T	12.37:g.109644646C>T						ACACB_ENST00000377848.3_Silent_p.P1015P|ACACB_ENST00000377854.5_Silent_p.P1015P	p.P1015P			O00763	ACACB_HUMAN			20	3164	+			1015					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.3045C>T	CCDS31898.1																																																																																				0.527	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		11	51	0	0	0	1	0	11	51				
RASGRF2	5924	broad.mit.edu	37	5	80366346	80366346	+	Silent	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:80366346A>G	ENST00000265080.4	+	4	646	c.579A>G	c.(577-579)cgA>cgG	p.R193R	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	193					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AACGAATGCGACCTTACCAAA	0.423																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(577-579)cgA>cgG		Ras protein-specific guanine nucleotide-releasing factor 2							147.0	147.0	147.0					5																	80366346		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80366346A>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.579A>G	5.37:g.80366346A>G						RASGRF2_ENST00000502677.1_3'UTR	p.R193R	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	4	646	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	193					B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.579A>G	CCDS4052.1																																																																																				0.423	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		29	65	0	0	0	1	0	29	65				
FBN1	2200	broad.mit.edu	37	15	48760623	48760623	+	Missense_Mutation	SNP	C	C	T	rs201546777		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr15:48760623C>T	ENST00000316623.5	-	37	5023	c.4568G>A	c.(4567-4569)cGa>cAa	p.R1523Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1523	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGCCAACTCGAGTTGGGTT	0.438																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(4567-4569)cGa>cAa		fibrillin 1							109.0	95.0	100.0					15																	48760623		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48760623C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4568G>A	15.37:g.48760623C>T	ENSP00000325527:p.Arg1523Gln						p.R1523Q	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	37	5023	-		all_lung(180;0.00279)	1523			EGF-like 26; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4568G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512210	0.96402	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.94650	-3.48	5.64	5.64	0.86602	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.237173	0.42964	D	0.000629	D	0.87985	0.6316	N	0.16037	0.36	0.80722	D	1	P	0.45531	0.86	B	0.34452	0.183	D	0.87937	0.2714	10	0.34782	T	0.22	.	19.4873	0.95035	0.0:1.0:0.0:0.0	.	1523	P35555	FBN1_HUMAN	Q	1523;91;413	ENSP00000325527:R1523Q	ENSP00000325527:R1523Q	R	-	2	0	FBN1	46547915	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	CGA		0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			4	87	0	0	0	1	0	4	87				
FAM47B	170062	broad.mit.edu	37	X	34962576	34962576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:34962576G>A	ENST00000329357.5	+	1	1664	c.1628G>A	c.(1627-1629)cGt>cAt	p.R543H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	543										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTGCACAGCGTGGGAGGATA	0.498																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1627-1629)cGt>cAt		family with sequence similarity 47, member B							101.0	88.0	93.0					X																	34962576		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962576G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1628G>A	X.37:g.34962576G>A	ENSP00000328307:p.Arg543His						p.R543H	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1664	+			543					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1628G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	2.067	-0.414072	0.04766	.	.	ENSG00000189132	ENST00000329357	T	0.41758	0.99	0.602	-0.697	0.11284	.	.	.	.	.	T	0.26666	0.0652	L	0.35341	1.055	0.09310	N	1	B	0.15930	0.015	B	0.06405	0.002	T	0.18304	-1.0341	8	0.41790	T	0.15	.	.	.	.	.	543	Q8NA70	FA47B_HUMAN	H	543	ENSP00000328307:R543H	ENSP00000328307:R543H	R	+	2	0	FAM47B	34872497	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.440000	0.06888	-0.437000	0.07243	-0.857000	0.03018	CGT		0.498	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		6	70	0	0	0	1	0	6	70				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			37	68	0	0	0	1	0	37	68				
PTER	9317	broad.mit.edu	37	10	16528411	16528411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:16528411G>A	ENST00000378000.1	+	4	739	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	PTER_ENST00000298942.3_Missense_Mutation_p.G165S|PTER_ENST00000423462.2_Missense_Mutation_p.G165S|PTER_ENST00000535784.2_Missense_Mutation_p.G165S|PTER_ENST00000485788.1_3'UTR	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	165					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TATCAAGTGTGGCATTATTGG	0.448																																					Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(493-495)Ggc>Agc		phosphotriesterase related							111.0	108.0	109.0					10																	16528411		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16528411G>A	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.493G>A	10.37:g.16528411G>A	ENSP00000367239:p.Gly165Ser					PTER_ENST00000423462.2_Missense_Mutation_p.G165S|PTER_ENST00000535784.2_Missense_Mutation_p.G165S|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000298942.3_Missense_Mutation_p.G165S	p.G165S	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			4	739	+			165					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.493G>A	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794474	0.96952	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89677	0.3888	10	0.56958	D	0.05	-21.8226	20.6439	0.99570	0.0:0.0:1.0:0.0	.	165;165	Q96BW5-2;Q96BW5	.;PTER_HUMAN	S	165	ENSP00000439485:G165S;ENSP00000389535:G165S;ENSP00000367239:G165S;ENSP00000298942:G165S	ENSP00000298942:G165S	G	+	1	0	PTER	16568417	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GGC		0.448	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		19	108	0	0	0	1	0	19	108				
CEP78	84131	broad.mit.edu	37	9	80881577	80881577	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:80881577T>C	ENST00000424347.2	+	15	2306	c.2017T>C	c.(2017-2019)Tcc>Ccc	p.S673P	CEP78_ENST00000376598.2_Missense_Mutation_p.S689P|CEP78_ENST00000376597.4_Missense_Mutation_p.S690P|CEP78_ENST00000415759.2_Missense_Mutation_p.S674P|CEP78_ENST00000277082.5_Missense_Mutation_p.S673P			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	673					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGAGGAGTTGTCCAGAAATAG	0.433																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(2017-2019)Tcc>Ccc		centrosomal protein 78kDa							56.0	51.0	53.0					9																	80881577		1868	4112	5980	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80881577T>C	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.2017T>C	9.37:g.80881577T>C	ENSP00000411284:p.Ser673Pro					CEP78_ENST00000415759.2_Missense_Mutation_p.S674P|CEP78_ENST00000376597.4_Missense_Mutation_p.S690P|CEP78_ENST00000376598.2_Missense_Mutation_p.S689P|CEP78_ENST00000277082.5_Missense_Mutation_p.S673P	p.S673P			Q5JTW2	CEP78_HUMAN			15	2306	+			673					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.2017T>C		.	.	.	.	.	.	.	.	.	.	T	11.36	1.615410	0.28801	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.31510	1.52;1.7;1.49;1.51;1.5	6.17	2.55	0.30701	.	0.300991	0.29466	N	0.012072	T	0.27559	0.0677	M	0.65975	2.015	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.24977	-1.0145	10	0.44086	T	0.13	-1.2685	5.3406	0.15981	0.133:0.1697:0.0:0.6973	.	674;690;673	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	P	673;689;674;690;673;689	ENSP00000411284:S673P;ENSP00000399286:S674P;ENSP00000365782:S690P;ENSP00000277082:S673P;ENSP00000365783:S689P	ENSP00000277082:S673P	S	+	1	0	CEP78	80071397	0.178000	0.23122	0.017000	0.16124	0.653000	0.38743	0.447000	0.21710	0.194000	0.20326	0.533000	0.62120	TCC		0.433	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		2	12	0	0	0	1	0	2	12				
HSPG2	3339	broad.mit.edu	37	1	22162039	22162039	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:22162039T>C	ENST00000374695.3	-	76	10526	c.10447A>G	c.(10447-10449)Atc>Gtc	p.I3483V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3483	Ig-like C2-type 20.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTACCTTGGATAACCAGCTGG	0.562																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10447-10449)Atc>Gtc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						45.0	43.0	44.0					1																	22162039		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22162039T>C	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10447A>G	1.37:g.22162039T>C	ENSP00000363827:p.Ile3483Val						p.I3483V	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	76	10526	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3483			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10447A>G	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233809	0.22626	.	.	ENSG00000142798	ENST00000374695;ENST00000374676	T	0.08634	3.07	4.91	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33772	N	0.004564	T	0.02688	0.0081	N	0.01242	-0.935	0.20307	N	0.999915	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.002	T	0.44483	-0.9325	9	.	.	.	.	8.2016	0.31428	0.0:0.7579:0.1574:0.0848	.	1423;3483	Q59EG0;P98160	.;PGBM_HUMAN	V	3483;92	ENSP00000363827:I3483V	.	I	-	1	0	HSPG2	22034626	0.906000	0.30813	0.998000	0.56505	0.952000	0.60782	0.916000	0.28651	1.301000	0.44836	-0.186000	0.12905	ATC		0.562	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		9	29	0	0	0	1	0	9	29				
SLC25A24	29957	broad.mit.edu	37	1	108735257	108735257	+	Intron	SNP	C	C	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:108735257C>A	ENST00000565488.1	-	2	403				SLC25A24_ENST00000370041.4_De_novo_Start_InFrame	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24						ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GGATGTCTCCCTCGCAGCTCC	0.582																																						ENST00000370041.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16								solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24							142.0	137.0	139.0					1																	108735257		2180	4122	6302	SO:0001627	intron_variant	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108735257C>A	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.184-6681G>T	1.37:g.108735257C>A						SLC25A24_ENST00000565488.1_Intron		NM_213651.2	NP_998816.1	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	0	183	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)						B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Translation_Start_Site	SNP	ENST00000565488.1	37		CCDS41361.1																																																																																				0.582	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		6	273	1	0	0.000157383	1	0.000165175	6	273				
EIF3D	8664	broad.mit.edu	37	22	36907606	36907606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr22:36907606G>A	ENST00000216190.8	-	14	1947	c.1577C>T	c.(1576-1578)aCc>aTc	p.T526I	EIF3D_ENST00000478547.1_5'UTR|EIF3D_ENST00000541106.1_Missense_Mutation_p.T477I|EIF3D_ENST00000405442.1_Missense_Mutation_p.T526I	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AGAGCTGAAGGTGCCATCAGG	0.527											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(1576-1578)aCc>aTc		eukaryotic translation initiation factor 3, subunit D							93.0	73.0	80.0					22																	36907606		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36907606G>A	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1577C>T	22.37:g.36907606G>A	ENSP00000216190:p.Thr526Ile		OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	EIF3D_ENST00000462641.1_5'UTR|EIF3D_ENST00000405442.1_Missense_Mutation_p.T526I|EIF3D_ENST00000541106.1_Missense_Mutation_p.T477I	p.T526I	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN			14	1947	-			526						Missense_Mutation	SNP	ENST00000216190.8	37	c.1577C>T	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942570	0.92526	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.79375	0.4435	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.73380	0.926;0.98	T	0.79451	-0.1798	9	0.87932	D	0	-9.0027	20.4366	0.99092	0.0:0.0:1.0:0.0	.	477;526	B4DVY1;O15371	.;EIF3D_HUMAN	I	526;511;477;526	.	ENSP00000216190:T526I	T	-	2	0	EIF3D	35237552	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.967000	0.93402	2.837000	0.97791	0.591000	0.81541	ACC		0.527	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			3	19	0	0	0	1	0	3	19				
RGL2	5863	broad.mit.edu	37	6	33260297	33260297	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:33260297T>C	ENST00000497454.1	-	17	2527	c.2032A>G	c.(2032-2034)Agt>Ggt	p.S678G	WDR46_ENST00000374617.4_5'Flank|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	678	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTGATGACACTTGGAGCCTTG	0.522																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(2032-2034)Agt>Ggt		ral guanine nucleotide dissociation stimulator-like 2							121.0	110.0	114.0					6																	33260297		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33260297T>C		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2032A>G	6.37:g.33260297T>C	ENSP00000420211:p.Ser678Gly					RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	p.S678G	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			17	2527	-			678			Ras-associating.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.2032A>G	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.797183	0.31777	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.17854	2.25	5.11	5.11	0.69529	Ras-association (3);	0.055816	0.64402	D	0.000001	T	0.05502	0.0145	N	0.19112	0.55	0.80722	D	1	B	0.22541	0.071	B	0.25614	0.062	T	0.15235	-1.0444	10	0.44086	T	0.13	.	11.2242	0.48873	0.0:0.0:0.0:1.0	.	678	O15211	RGL2_HUMAN	G	678;542	ENSP00000420211:S678G	ENSP00000400083:S542G	S	-	1	0	RGL2	33368275	0.234000	0.23783	1.000000	0.80357	0.979000	0.70002	0.537000	0.23144	2.138000	0.66242	0.523000	0.50628	AGT		0.522	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			16	110	0	0	0	1	0	16	110				
NPBWR1	2831	broad.mit.edu	37	8	53852887	53852887	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:53852887C>T	ENST00000331251.3	+	1	1897	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	140					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGGTGTTGGCCACTGCGGAGT	0.662																																						ENST00000331251.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17						c.(418-420)gcC>gcT		neuropeptides B/W receptor 1							24.0	25.0	25.0					8																	53852887		2199	4291	6490	SO:0001819	synonymous_variant	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852887C>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.420C>T	8.37:g.53852887C>T							p.A140A	NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN			1	1897	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	140					Q6NTC7	Silent	SNP	ENST00000331251.3	37	c.420C>T	CCDS6151.1																																																																																				0.662	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		7	42	0	0	0	1	0	7	42				
ALOX12B	242	broad.mit.edu	37	17	7976156	7976156	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7976156T>C	ENST00000319144.4	-	15	2299	c.2039A>G	c.(2038-2040)aAc>aGc	p.N680S	ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	680	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AAGGCACTTGTTGCGCTGGCG	0.587										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(2038-2040)aAc>aGc		arachidonate 12-lipoxygenase, 12R type							167.0	148.0	154.0					17																	7976156		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7976156T>C	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.2039A>G	17.37:g.7976156T>C	ENSP00000315167:p.Asn680Ser	Multiple Myeloma(8;0.094)					p.N680S	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			15	2299	-			680			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.2039A>G	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868865	0.91587	.	.	ENSG00000179477	ENST00000319144	D	0.84944	-1.92	4.89	4.89	0.63831	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	H	0.95504	3.68	0.58432	D	0.999993	D	0.76494	0.999	D	0.70935	0.971	D	0.95592	0.8655	10	0.87932	D	0	-34.1543	13.5362	0.61648	0.0:0.0:0.0:1.0	.	680	O75342	LX12B_HUMAN	S	680	ENSP00000315167:N680S	ENSP00000315167:N680S	N	-	2	0	ALOX12B	7916881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.101000	0.76997	1.851000	0.53745	0.411000	0.27672	AAC		0.587	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			6	98	0	0	0	1	0	6	98				
ANKRD40	91369	broad.mit.edu	37	17	48773483	48773483	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:48773483G>C	ENST00000285243.6	-	5	1251	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E	RP11-294J22.6_ENST00000574246.1_RNA|Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	328										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGAAATCTTGGAGTCGAGCA	0.393																																						ENST00000285243.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(982-984)Caa>Gaa		ankyrin repeat domain 40							92.0	89.0	90.0					17																	48773483		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48773483G>C	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.982C>G	17.37:g.48773483G>C	ENSP00000285243:p.Gln328Glu						p.Q328E	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		5	1251	-			328					Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.982C>G	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287869	0.59976	.	.	ENSG00000154945	ENST00000285243	T	0.25250	1.81	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	L	0.47716	1.5	0.80722	D	1	B	0.32396	0.369	B	0.28638	0.092	T	0.07986	-1.0744	10	0.72032	D	0.01	-7.2185	19.0786	0.93173	0.0:0.0:1.0:0.0	.	328	Q6AI12	ANR40_HUMAN	E	328	ENSP00000285243:Q328E	ENSP00000285243:Q328E	Q	-	1	0	ANKRD40	46128482	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.685000	0.91246	2.576000	0.86940	0.591000	0.81541	CAA		0.393	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		17	68	0	0	0	1	0	17	68				
OR2G3	81469	broad.mit.edu	37	1	247769424	247769424	+	Silent	SNP	C	C	T	rs144392521		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:247769424C>T	ENST00000320002.2	+	1	569	c.537C>T	c.(535-537)tgC>tgT	p.C179C	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			ATTTTATTTGCGAAGTACCAG	0.453																																						ENST00000320002.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(535-537)tgC>tgT		olfactory receptor, family 2, subfamily G, member 3		C		3,4403	6.2+/-15.9	0,3,2200	175.0	159.0	164.0		537	1.1	0.5	1	dbSNP_134	164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2G3	NM_001001914.1		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		179/310	247769424	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769424C>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.537C>T	1.37:g.247769424C>T						RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	p.C179C	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	569	+	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)		179					B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.537C>T	CCDS31093.1																																																																																				0.453	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			15	75	0	0	0	1	0	15	75				
CMTM1	113540	broad.mit.edu	37	16	66612848	66612848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr16:66612848C>T	ENST00000457188.2	+	4	575	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	CMTM2_ENST00000379486.2_5'Flank|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000529506.1_Missense_Mutation_p.P53S|CMTM2_ENST00000268595.2_5'Flank|CMTM1_ENST00000336328.6_Missense_Mutation_p.P99S|CMTM1_ENST00000379500.2_Missense_Mutation_p.P269S|CMTM1_ENST00000332695.7_Missense_Mutation_p.P105S|RP11-403P17.2_ENST00000568430.1_RNA|CMTM1_ENST00000533953.1_Missense_Mutation_p.P221S|CMTM1_ENST00000531885.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Missense_Mutation_p.P98S|CMTM1_ENST00000528324.1_3'UTR|CMTM1_ENST00000328020.6_3'UTR	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	152					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GAAGCTTTCCCCCGCCAAGGA	0.602																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(805-807)Ccc>Tcc		CKLF-like MARVEL transmembrane domain containing 1							110.0	101.0	104.0					16																	66612848		2201	4300	6501	SO:0001583	missense	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66612848C>T	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.454C>T	16.37:g.66612848C>T	ENSP00000405729:p.Pro152Ser					CMTM1_ENST00000533953.1_Missense_Mutation_p.P221S|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CMTM1_ENST00000528324.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Missense_Mutation_p.P98S|CMTM1_ENST00000336328.6_Missense_Mutation_p.P99S|CMTM1_ENST00000457188.2_Missense_Mutation_p.P152S|CMTM1_ENST00000332695.7_Missense_Mutation_p.P105S	p.P269S	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	4	872	+		Ovarian(137;0.0563)	152					Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Missense_Mutation	SNP	ENST00000457188.2	37	c.805C>T	CCDS45503.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304362	0.40795	.	.	ENSG00000254788;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505	ENST00000527729;ENST00000332695;ENST00000336328;ENST00000457188;ENST00000533953;ENST00000379500	T;T;T;T;T	0.58506	0.45;0.48;1.76;0.33;1.8	2.51	-5.02	0.02982	.	2.515560	0.01625	N	0.023227	T	0.58764	0.2145	L	0.40543	1.245	0.09310	N	1	D;B;D;D	0.65815	0.99;0.002;0.995;0.982	P;B;D;P	0.63703	0.842;0.001;0.917;0.871	T	0.56505	-0.7968	10	0.40728	T	0.16	-0.0104	1.3588	0.02187	0.1458:0.255:0.3632:0.2361	.	269;105;99;152	Q6PEV5;Q8IZ96-5;Q8IZ96-6;Q8IZ96	.;.;.;CKLF1_HUMAN	S	98;105;99;152;221;269	ENSP00000331428:P105S;ENSP00000337119:P99S;ENSP00000405729:P152S;ENSP00000435786:P221S;ENSP00000368814:P269S	ENSP00000433998:P98S	P	+	1	0	CMTM1;CKLF-CMTM1	65170349	.	.	0.000000	0.03702	0.004000	0.04260	.	.	-1.212000	0.02620	-0.221000	0.12465	CCC		0.602	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		15	59	0	0	0	1	0	15	59				
SNAI2	6591	broad.mit.edu	37	8	49833789	49833789	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:49833789G>A	ENST00000396822.1	-	2	393	c.36C>T	c.(34-36)aaC>aaT	p.N12N	SNAI2_ENST00000020945.1_Silent_p.N12N			O43623	SNAI2_HUMAN	snail family zinc finger 2	12	SNAG domain. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTTTGGAGGCGTTGAAATGCT	0.532																																						ENST00000396822.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18						c.(34-36)aaC>aaT		snail family zinc finger 2							151.0	149.0	150.0					8																	49833789		2203	4300	6503	SO:0001819	synonymous_variant	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49833789G>A	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.36C>T	8.37:g.49833789G>A						SNAI2_ENST00000020945.1_Silent_p.N12N	p.N12N			O43623	SNAI2_HUMAN			2	393	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	12					B2R6P6|Q53FC1	Silent	SNP	ENST00000396822.1	37	c.36C>T	CCDS6146.1																																																																																				0.532	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		4	123	0	0	0	1	0	4	123				
FOLH1B	219595	broad.mit.edu	37	11	89395333	89395333	+	RNA	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395333A>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395333A>G										Q9HBA9	FOH1B_HUMAN			0	731	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.348	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	60	0	0	0	1	0	3	60				
TULP4	56995	broad.mit.edu	37	6	158914678	158914678	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:158914678C>T	ENST00000367097.3	+	10	3062	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	TULP4_ENST00000367094.2_Missense_Mutation_p.P569S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	569					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCACGGTTGCCCCTGCGCAA	0.642																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1705-1707)Ccc>Tcc		tubby like protein 4							48.0	52.0	51.0					6																	158914678		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158914678C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1705C>T	6.37:g.158914678C>T	ENSP00000356064:p.Pro569Ser					TULP4_ENST00000367094.2_Missense_Mutation_p.P569S	p.P569S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	10	3062	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	569					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1705C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279673	0.80692	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	D;D	0.84442	-1.85;-1.85	4.87	3.97	0.46021	Tubby, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81688	0.4875	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.994;0.997	T	0.81165	-0.1057	10	0.28530	T	0.3	-19.8359	14.8011	0.69916	0.0:0.8548:0.1452:0.0	.	569;569	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	S	569	ENSP00000356064:P569S;ENSP00000356061:P569S	ENSP00000356061:P569S	P	+	1	0	TULP4	158834666	1.000000	0.71417	0.979000	0.43373	0.847000	0.48162	7.263000	0.78421	0.997000	0.38969	0.563000	0.77884	CCC		0.642	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		4	75	0	0	0	1	0	4	75				
APOB	338	broad.mit.edu	37	2	21250764	21250764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:21250764G>A	ENST00000233242.1	-	14	2130	c.2003C>T	c.(2002-2004)cCt>cTt	p.P668L	APOB_ENST00000399256.4_Missense_Mutation_p.P668L	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	668	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTCTTTAGGAAGGTAGTT	0.418																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2002-2004)cCt>cTt		apolipoprotein B	Atorvastatin(DB01076)						113.0	118.0	116.0					2																	21250764		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21250764G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2003C>T	2.37:g.21250764G>A	ENSP00000233242:p.Pro668Leu					APOB_ENST00000399256.4_Missense_Mutation_p.P668L	p.P668L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			14	2130	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		668			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2003C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108217	0.94292	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.80909	-1.43;-1.43	5.85	5.85	0.93711	Vitellinogen, open beta-sheet, subdomain 1 (1);Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);	0.000000	0.85682	D	0.000000	D	0.91126	0.7206	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91154	0.4955	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	668	P04114	APOB_HUMAN	L	668	ENSP00000233242:P668L;ENSP00000382200:P668L	ENSP00000233242:P668L	P	-	2	0	APOB	21104269	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.002000	0.93572	2.941000	0.99782	0.655000	0.94253	CCT		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			17	62	0	0	0	1	0	17	62				
TMEM2	23670	broad.mit.edu	37	9	74359988	74359988	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:74359988A>G	ENST00000377044.4	-	4	1519	c.980T>C	c.(979-981)aTc>aCc	p.I327T	TMEM2_ENST00000377066.5_Missense_Mutation_p.I327T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	327					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GATCATCTGGATGGTTCCTTG	0.522																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(979-981)aTc>aCc		transmembrane protein 2							150.0	135.0	140.0					9																	74359988		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74359988A>G		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.980T>C	9.37:g.74359988A>G	ENSP00000366243:p.Ile327Thr					TMEM2_ENST00000377066.5_Missense_Mutation_p.I327T	p.I327T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1519	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	327					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.980T>C	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621348	0.28889	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.72615	-0.67;-0.6	6.03	4.83	0.62350	.	0.182929	0.56097	D	0.000026	T	0.54549	0.1865	L	0.34521	1.04	0.80722	D	1	B;B	0.21753	0.018;0.06	B;B	0.23574	0.021;0.047	T	0.50101	-0.8867	10	0.21540	T	0.41	.	6.0568	0.19816	0.5357:0.247:0.0:0.2173	.	327;327	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	T	327	ENSP00000366243:I327T;ENSP00000366266:I327T	ENSP00000366243:I327T	I	-	2	0	TMEM2	73549808	0.997000	0.39634	0.954000	0.39281	0.927000	0.56198	2.515000	0.45512	2.308000	0.77769	0.533000	0.62120	ATC		0.522	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		10	190	0	0	0	1	0	10	190				
ADAMTS16	170690	broad.mit.edu	37	5	5239326	5239326	+	Silent	SNP	C	C	T	rs202019608		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N739N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGTGTGTAACGGGAATAACT	0.512																																						ENST00000274181.7																			4	Substitution - coding silent(4)	p.N739N(4)	lung(4)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2215-2217)aaC>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 16		C		3,4121		0,3,2059	258.0	253.0	255.0		2217	0.4	0.6	5		255	2,8424		0,2,4211	no	coding-synonymous	ADAMTS16	NM_139056.2		0,5,6270	TT,TC,CC		0.0237,0.0727,0.0398		739/1225	5239326	5,12545	2062	4213	6275	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239326C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2217C>T	5.37:g.5239326C>T							p.N739N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			15	2355	+			739			Cys-rich.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2217C>T	CCDS43299.1																																																																																				0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		5	206	0	0	0	1	0	5	206				
ASB2	51676	broad.mit.edu	37	14	94404157	94404157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:94404157G>A	ENST00000315988.4	-	7	2002	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ASB2_ENST00000556337.1_5'Flank|ASB2_ENST00000555019.1_Missense_Mutation_p.A553V|RP11-131H24.4_ENST00000557646.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	505					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GATGGGCCCCGCCCAGCGGCT	0.597																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1657-1659)gCg>gTg		ankyrin repeat and SOCS box containing 2							57.0	50.0	53.0					14																	94404157		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94404157G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1514C>T	14.37:g.94404157G>A	ENSP00000320675:p.Ala505Val					ASB2_ENST00000315988.4_Missense_Mutation_p.A505V	p.A553V	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	9	2088	-		all_cancers(154;0.13)	505			SOCS box.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1658C>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198385	0.58126	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.69926	-0.44;-0.29;-0.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	L	0.28400	0.85	0.49915	D	0.999838	D;D;D	0.89917	0.995;1.0;0.995	P;D;P	0.80764	0.629;0.994;0.629	T	0.66854	-0.5818	10	0.16896	T	0.51	-0.0639	18.5726	0.91142	0.0:0.0:1.0:0.0	.	521;553;505	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	V	553;521;505;451;451	ENSP00000451575:A553V;ENSP00000320675:A505V;ENSP00000450940:A451V	ENSP00000320675:A505V	A	-	2	0	ASB2	93473910	1.000000	0.71417	0.985000	0.45067	0.933000	0.57130	9.869000	0.99810	2.387000	0.81309	0.462000	0.41574	GCG		0.597	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			6	23	0	0	0	1	0	6	23				
ANKMY2	57037	broad.mit.edu	37	7	16650366	16650366	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr7:16650366T>C	ENST00000306999.2	-	6	797	c.554A>G	c.(553-555)aAt>aGt	p.N185S		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	185						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGCAGAGGATTCTCATTTAC	0.378																																						ENST00000306999.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(553-555)aAt>aGt		ankyrin repeat and MYND domain containing 2							105.0	99.0	101.0					7																	16650366		2203	4300	6503	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16650366T>C	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.554A>G	7.37:g.16650366T>C	ENSP00000303570:p.Asn185Ser						p.N185S	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	6	797	-	Lung NSC(10;0.103)|all_lung(11;0.204)		185					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.554A>G	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500168	0.44455	.	.	ENSG00000106524	ENST00000306999	T	0.71579	-0.58	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.73598	2.24	0.58432	D	0.999994	P	0.36874	0.572	B	0.27076	0.076	T	0.68788	-0.5316	10	0.32370	T	0.25	-27.9268	16.0998	0.81163	0.0:0.0:0.0:1.0	.	185	Q8IV38	ANKY2_HUMAN	S	185	ENSP00000303570:N185S	ENSP00000303570:N185S	N	-	2	0	ANKMY2	16616891	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.916000	0.69981	2.199000	0.70637	0.533000	0.62120	AAT		0.378	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		12	70	0	0	0	1	0	12	70				
PLA2R1	22925	broad.mit.edu	37	2	160832717	160832717	+	Silent	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:160832717A>G	ENST00000283243.7	-	17	2663	c.2457T>C	c.(2455-2457)taT>taC	p.Y819Y	PLA2R1_ENST00000392771.1_Silent_p.Y819Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	819	C-type lectin 5. {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						CTGCATCCTGATAAAAGAGCC	0.383																																						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.(2455-2457)taT>taC		phospholipase A2 receptor 1, 180kDa							83.0	79.0	81.0					2																	160832717		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160832717A>G	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.2457T>C	2.37:g.160832717A>G						PLA2R1_ENST00000392771.1_Silent_p.Y819Y	p.Y819Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			17	2663	-			819			C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.2457T>C	CCDS33309.1																																																																																				0.383	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			11	24	0	0	0	1	0	11	24				
SCGN	10590	broad.mit.edu	37	6	25670302	25670302	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:25670302A>G	ENST00000377961.2	+	6	637	c.469A>G	c.(469-471)Atg>Gtg	p.M157V	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	157	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACTGGCACCATGGTAAGTAA	0.483																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(469-471)Atg>Gtg		secretagogin, EF-hand calcium binding protein							111.0	112.0	111.0					6																	25670302		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25670302A>G	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.469A>G	6.37:g.25670302A>G	ENSP00000367197:p.Met157Val					SCGN_ENST00000334979.6_3'UTR	p.M157V	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			6	637	+			157			EF-hand 4.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.469A>G	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816947	0.70912	.	.	ENSG00000079689	ENST00000377961	T	0.70045	-0.45	5.6	5.6	0.85130	EF-hand-like domain (1);	0.034385	0.85682	D	0.000000	T	0.64125	0.2570	M	0.81497	2.545	0.80722	D	1	P	0.46706	0.883	P	0.44518	0.452	T	0.71174	-0.4670	10	0.52906	T	0.07	.	14.7755	0.69729	1.0:0.0:0.0:0.0	.	157	O76038	SEGN_HUMAN	V	157	ENSP00000367197:M157V	ENSP00000367197:M157V	M	+	1	0	SCGN	25778281	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.631000	0.74277	2.116000	0.64780	0.460000	0.39030	ATG		0.483	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			4	115	0	0	0	1	0	4	115				
WAS	7454	broad.mit.edu	37	X	48545245	48545245	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:48545245A>T	ENST00000376701.4	+	7	710	c.635A>T	c.(634-636)tAc>tTc	p.Y212F	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	212					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGTTCACGATACCGTGGGCTC	0.572			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(634-636)tAc>tTc		Wiskott-Aldrich syndrome							91.0	71.0	78.0					X																	48545245		2203	4300	6503	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48545245A>T	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.635A>T	X.37:g.48545245A>T	ENSP00000365891:p.Tyr212Phe					WAS_ENST00000483750.1_3'UTR	p.Y212F	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			7	710	+		all_lung(315;1.27e-10)	212					Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.635A>T	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663697	0.29515	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.99737	-6.59;-6.51	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	L	0.35542	1.07	0.42333	D	0.992306	P	0.37276	0.589	B	0.35353	0.201	D	0.99946	1.1476	10	0.21014	T	0.42	-8.288	10.7559	0.46237	1.0:0.0:0.0:0.0	.	212	P42768	WASP_HUMAN	F	212	ENSP00000410537:Y212F;ENSP00000365891:Y212F	ENSP00000365891:Y212F	Y	+	2	0	WAS	48430189	0.999000	0.42202	0.997000	0.53966	0.768000	0.43524	4.179000	0.58290	1.430000	0.47334	0.231000	0.17811	TAC		0.572	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		5	44	0	0	0	1	0	5	44				
NUP155	9631	broad.mit.edu	37	5	37351324	37351324	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:37351324T>C	ENST00000231498.3	-	6	894	c.691A>G	c.(691-693)Aag>Gag	p.K231E	NUP155_ENST00000513532.1_Missense_Mutation_p.K231E|NUP155_ENST00000381843.2_Missense_Mutation_p.K172E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	231					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCCATCCTTTCCAGCCAAG	0.353																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(691-693)Aag>Gag		nucleoporin 155kDa							86.0	87.0	87.0					5																	37351324		2203	4299	6502	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37351324T>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.691A>G	5.37:g.37351324T>C	ENSP00000231498:p.Lys231Glu					NUP155_ENST00000513532.1_Missense_Mutation_p.K231E|NUP155_ENST00000381843.2_Missense_Mutation_p.K172E	p.K231E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	894	-	all_lung(31;0.000137)		231					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.691A>G	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285759	0.80803	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.41065	1.01;1.01;1.01	5.83	5.83	0.93111	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	L	0.51914	1.62	0.80722	D	1	P;B	0.37370	0.592;0.437	B;P	0.44447	0.349;0.45	T	0.23476	-1.0187	10	0.07813	T	0.8	-2.757	16.2041	0.82108	0.0:0.0:0.0:1.0	.	231;231	E9PF10;O75694	.;NU155_HUMAN	E	231;172;193;231	ENSP00000231498:K231E;ENSP00000371265:K172E;ENSP00000422019:K231E	ENSP00000231498:K231E	K	-	1	0	NUP155	37387081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.541000	0.82084	2.219000	0.72066	0.533000	0.62120	AAG		0.353	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		11	71	0	0	0	1	0	11	71				
TRPC5	7224	broad.mit.edu	37	X	111024435	111024435	+	Splice_Site	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:111024435C>T	ENST00000262839.2	-	9	3019		c.e9-1			NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5						axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGCGTTCCTATAATTGAA	0.403																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e9-1		transient receptor potential cation channel, subfamily C, member 5							184.0	149.0	161.0					X																	111024435		2203	4300	6503	SO:0001630	splice_region_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111024435C>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2101-1G>A	X.37:g.111024435C>T								NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			9	3019	-								B2RP53|O75233|Q5JXY8|Q9Y514	Splice_Site	SNP	ENST00000262839.2	37		CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545791	0.86022	.	.	ENSG00000072315	ENST00000262839	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7641	0.91865	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPC5	110911091	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	7.068000	0.76748	2.378000	0.81104	0.550000	0.68814	.		0.403	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471	Intron	25	104	0	0	0	1	0	25	104				
SBNO1	55206	broad.mit.edu	37	12	123834923	123834923	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:123834923G>A	ENST00000602398.1	-	2	193	c.66C>T	c.(64-66)gaC>gaT	p.D22D	SBNO1_ENST00000267176.4_Silent_p.D22D|SBNO1_ENST00000420886.2_Silent_p.D22D|SBNO1_ENST00000602750.1_Silent_p.D22D|Y_RNA_ENST00000384460.1_RNA			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	22					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TATCAAAGAGGTCATTCGGAC	0.418																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(64-66)gaC>gaT		strawberry notch homolog 1 (Drosophila)							215.0	213.0	214.0					12																	123834923		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123834923G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.66C>T	12.37:g.123834923G>A						SBNO1_ENST00000267176.4_Silent_p.D22D|SBNO1_ENST00000602750.1_Silent_p.D22D|SBNO1_ENST00000602398.1_Silent_p.D22D	p.D22D	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	1	65	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		22					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.66C>T	CCDS53844.1																																																																																				0.418	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		11	378	0	0	0	1	0	11	378				
PALMD	54873	broad.mit.edu	37	1	100133315	100133315	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:100133315A>G	ENST00000263174.4	+	3	619	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	PALMD_ENST00000605497.1_Missense_Mutation_p.I82V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	82					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAACAAAGTATCCTCAGGTA	0.433																																						ENST00000263174.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(244-246)Atc>Gtc		palmdelphin							175.0	160.0	165.0					1																	100133315		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100133315A>G	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.244A>G	1.37:g.100133315A>G	ENSP00000263174:p.Ile82Val					PALMD_ENST00000605497.1_Missense_Mutation_p.I82V	p.I82V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	3	619	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	82					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.244A>G	CCDS758.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959730	0.74016	.	.	ENSG00000099260	ENST00000263174	T	0.26518	1.73	5.75	5.75	0.90469	.	0.049066	0.85682	D	0.000000	T	0.32882	0.0844	M	0.62723	1.935	0.39645	D	0.970371	D	0.55800	0.973	P	0.57101	0.813	T	0.07712	-1.0758	10	0.51188	T	0.08	-10.5191	15.0245	0.71659	1.0:0.0:0.0:0.0	.	82	Q9NP74	PALMD_HUMAN	V	82	ENSP00000263174:I82V	ENSP00000263174:I82V	I	+	1	0	PALMD	99905903	1.000000	0.71417	0.992000	0.48379	0.953000	0.61014	5.496000	0.66918	2.197000	0.70478	0.533000	0.62120	ATC		0.433	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		12	139	0	0	0	1	0	12	139				
DUPD1	338599	broad.mit.edu	37	10	76803652	76803652	+	Silent	SNP	G	G	A	rs183707898		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:76803652G>A	ENST00000338487.5	-	2	323	c.324C>T	c.(322-324)taC>taT	p.Y108Y		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	108	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCACGCCGTGGTACTGGATGT	0.647																																						ENST00000338487.5																			0				breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(322-324)taC>taT		dual specificity phosphatase and pro isomerase domain containing 1							98.0	89.0	92.0					10																	76803652		2203	4300	6503	SO:0001819	synonymous_variant	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76803652G>A		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.324C>T	10.37:g.76803652G>A							p.Y108Y	NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN			2	323	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		108			Tyrosine-protein phosphatase.		B2RP93	Silent	SNP	ENST00000338487.5	37	c.324C>T	CCDS31223.1																																																																																				0.647	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		17	106	0	0	0	1	0	17	106				
NPR1	4881	broad.mit.edu	37	1	153659546	153659546	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:153659546A>G	ENST00000368680.3	+	12	2390	c.1918A>G	c.(1918-1920)Acc>Gcc	p.T640A		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	640	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTACTCACTCACCAATGACAT	0.562																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1918-1920)Acc>Gcc		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						162.0	129.0	140.0					1																	153659546		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153659546A>G	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1918A>G	1.37:g.153659546A>G	ENSP00000357669:p.Thr640Ala						p.T640A	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		12	2390	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		640			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1918A>G	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517611	0.44763	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.59224	0.28	4.29	4.29	0.51040	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067165	0.64402	D	0.000018	T	0.08846	0.0219	N	0.00134	-2.025	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.07790	-1.0754	10	0.32370	T	0.25	.	11.7121	0.51630	1.0:0.0:0.0:0.0	.	119;640	B7Z4Y7;P16066	.;ANPRA_HUMAN	A	640;119	ENSP00000357669:T640A	ENSP00000357669:T640A	T	+	1	0	NPR1	151926170	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.241000	0.78201	1.930000	0.55929	0.374000	0.22700	ACC		0.562	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		5	106	0	0	0	1	0	5	106				
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652																																						ENST00000355349.3																			1	Substitution - coding silent(1)	p.L1361L(1)	lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4081-4083)ctT>ctG		myosin, heavy chain 7, cardiac muscle, beta							77.0	71.0	73.0					14																	23887505		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887505A>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4083T>G	14.37:g.23887505A>C							p.L1361L	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4245	-	all_cancers(95;2.54e-05)		1361					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4083T>G	CCDS9601.1																																																																																				0.652	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	104	0	0	0	1	0	3	104				
PHACTR4	65979	broad.mit.edu	37	1	28793239	28793239	+	Silent	SNP	T	T	C	rs34628351		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:28793239T>C	ENST00000373839.3	+	6	1044	c.783T>C	c.(781-783)ccT>ccC	p.P261P	PHACTR4_ENST00000373836.3_Silent_p.P271P|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	261	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTATCCCTCCCCCTAAAC	0.517																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(781-783)ccT>ccC		phosphatase and actin regulator 4							82.0	84.0	84.0					1																	28793239		1929	4139	6068	SO:0001819	synonymous_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28793239T>C	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.783T>C	1.37:g.28793239T>C						PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.P271P	p.P261P	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	6	1044	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	261			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	ENST00000373839.3	37	c.783T>C	CCDS41293.1																																																																																				0.517	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		3	150	0	0	0	1	0	3	150				
FBXL17	64839	broad.mit.edu	37	5	107197443	107197443	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:107197443T>C	ENST00000542267.1	-	9	2490	c.2084A>G	c.(2083-2085)aAc>aGc	p.N695S	FBXL17_ENST00000359660.5_Missense_Mutation_p.N297S	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	695										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGCAGACATGTTGGGGGTCCA	0.582																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(2083-2085)aAc>aGc		F-box and leucine-rich repeat protein 17							114.0	86.0	95.0					5																	107197443		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107197443T>C	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.2084A>G	5.37:g.107197443T>C	ENSP00000437464:p.Asn695Ser					FBXL17_ENST00000359660.5_Missense_Mutation_p.N297S	p.N695S	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	9	2490	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	695					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.2084A>G	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698741	0.48307	.	.	ENSG00000145743	ENST00000359660;ENST00000542267	T;T	0.12774	2.84;2.65	5.59	3.14	0.36123	.	16.014100	0.00166	N	0.000000	T	0.07773	0.0195	N	0.08118	0	0.28686	N	0.904836	B	0.25772	0.134	B	0.19391	0.025	T	0.34976	-0.9807	10	0.13853	T	0.58	.	5.973	0.19363	0.1231:0.138:0.0:0.7388	.	695	Q9UF56	FXL17_HUMAN	S	297;695	ENSP00000352683:N297S;ENSP00000437464:N695S	ENSP00000352683:N297S	N	-	2	0	FBXL17	107225342	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	1.956000	0.40382	0.388000	0.25054	0.477000	0.44152	AAC		0.582	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	77	0	0	0	1	0	5	77				
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1426*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAATACGTCGCCTTTTCTTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Substitution - Nonsense(1)|Unknown(1)	p.R1426*(1)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4276-4278)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						236.0	201.0	213.0					X																	76909629		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909629G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4276C>T	X.37:g.76909629G>A	ENSP00000362441:p.Arg1426*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	p.R1426*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4490	-			1426					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4276C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	44	11.200502	0.99530	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	3.6	0.41247	.	0.079753	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8333	13.0038	0.58692	0.0:0.0:0.397:0.603	.	.	.	.	X	1426;1388	.	ENSP00000362441:R1426X	R	-	1	2	ATRX	76796285	0.991000	0.36638	0.982000	0.44146	0.683000	0.39861	1.747000	0.38298	0.544000	0.28883	0.502000	0.49764	CGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		12	97	0	0	0	1	0	12	97				
TENM1	10178	broad.mit.edu	37	X	123785903	123785903	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:123785903C>T	ENST00000371130.3	-	8	1503	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q	TENM1_ENST00000422452.2_Silent_p.Q480Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	480					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GAGGGGAGTGCTGTGTATCAT	0.433																																						ENST00000422452.2																			0											c.(1438-1440)caG>caA		teneurin transmembrane protein 1							143.0	126.0	132.0					X																	123785903		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123785903C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1440G>A	X.37:g.123785903C>T						TENM1_ENST00000371130.3_Silent_p.Q480Q	p.Q480Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					8	1503	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.1440G>A	CCDS14609.1																																																																																				0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	56	0	0	0	1	0	4	56				
RXRA	6256	broad.mit.edu	37	9	137300950	137300950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:137300950G>A	ENST00000481739.1	+	4	647	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	RXRA_ENST00000540193.1_Missense_Mutation_p.G102S|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	199					camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCTGGCCATGGGCATGAAGCG	0.657																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(304-306)Ggc>Agc		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						72.0	65.0	67.0					9																	137300950		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137300950G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.595G>A	9.37:g.137300950G>A	ENSP00000419692:p.Gly199Ser					RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.G199S	p.G102S			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	3	1227	+			199			Modulating (By similarity).		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.304G>A	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421347	0.96111	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.99567	-6.18;-6.18	4.74	4.74	0.60224	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96920	0.9673	10	0.87932	D	0	.	18.0816	0.89443	0.0:0.0:1.0:0.0	.	199	P19793	RXRA_HUMAN	S	199;102	ENSP00000419692:G199S;ENSP00000442123:G102S	ENSP00000419692:G199S	G	+	1	0	RXRA	136440771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.316000	0.96319	2.336000	0.79503	0.561000	0.74099	GGC		0.657	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		5	64	0	0	0	1	0	5	64				
CEACAM5	1048	broad.mit.edu	37	19	42213763	42213763	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr19:42213763C>T	ENST00000221992.6	+	2	343	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	CEA_ENST00000598976.1_Missense_Mutation_p.R77C|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R77C|CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R77C	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	77	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGATGGCAACCGTCAAATTAT	0.488																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(229-231)Cgt>Tgt		carcinoembryonic antigen-related cell adhesion molecule 5							156.0	159.0	158.0					19																	42213763		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213763C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.229C>T	19.37:g.42213763C>T	ENSP00000221992:p.Arg77Cys					CEACAM5_ENST00000398599.4_Missense_Mutation_p.R77C|CEA_ENST00000598976.1_Missense_Mutation_p.R77C|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R77C	p.R77C	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	343	+			77			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.229C>T	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	11.76|11.76	1.733709|1.733709	0.30684|0.30684	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.66815	.|-0.23;-0.23	2.56|2.56	-5.12|-5.12	0.02893|0.02893	.|Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.68686|0.68686	0.3028|0.3028	L|L	0.56396|0.56396	1.775|1.775	0.09310|0.09310	N|N	1|1	.|B;D;D	.|0.65815	.|0.257;0.971;0.995	.|B;P;D	.|0.71184	.|0.339;0.816;0.972	T|T	0.60188|0.60188	-0.7312|-0.7312	5|9	.|0.66056	.|D	.|0.02	.|.	0.3286|0.3286	0.00315|0.00315	0.3098:0.1761:0.2812:0.2329|0.3098:0.1761:0.2812:0.2329	.|.	.|77;77;77	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	L|C	73|77	.|ENSP00000221992:R77C;ENSP00000385072:R77C	.|ENSP00000221992:R77C	P|R	+|+	2|1	0|0	CEACAM5|CEACAM5	46905603|46905603	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.734000|-3.734000	0.00380|0.00380	-1.597000|-1.597000	0.01609|0.01609	0.305000|0.305000	0.20034|0.20034	CCG|CGT		0.488	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		49	128	0	0	0	1	0	49	128				
H2BFWT	158983	broad.mit.edu	37	X	103267993	103267993	+	Missense_Mutation	SNP	G	G	T	rs200852468		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:103267993G>T	ENST00000217926.5	-	1	266	c.240C>A	c.(238-240)agC>agA	p.S80R	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	80						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGGTGGCGAAGCTGTCCCCGC	0.612																																						ENST00000217926.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(238-240)agC>agA		H2B histone family, member W, testis-specific							50.0	46.0	47.0					X																	103267993		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267993G>T	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.240C>A	X.37:g.103267993G>T	ENSP00000354723:p.Ser80Arg						p.S80R	NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN			1	266	-			80					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.240C>A	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.502145	0.44455	.	.	ENSG00000123569	ENST00000217926	T	0.68765	-0.35	2.63	-3.65	0.04502	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.71392	0.3334	L	0.56769	1.78	0.40150	D	0.976933	D	0.59767	0.986	P	0.60473	0.875	T	0.71755	-0.4497	9	0.87932	D	0	.	10.7036	0.45942	0.7845:0.0:0.2155:0.0	.	80	Q7Z2G1	H2BWT_HUMAN	R	80	ENSP00000354723:S80R	ENSP00000354723:S80R	S	-	3	2	H2BFWT	103154649	1.000000	0.71417	0.000000	0.03702	0.020000	0.10135	1.032000	0.30178	-1.337000	0.02236	-0.881000	0.02953	AGC		0.612	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		3	40	1	0	0.115264	1	0.116362	3	40				
TPP2	7174	broad.mit.edu	37	13	103287990	103287990	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:103287990G>C	ENST00000376065.4	+	12	1483	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	TPP2_ENST00000376052.3_Missense_Mutation_p.E483Q	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	483	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGCTCTAGAAAACACTGC	0.353																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(1447-1449)Gaa>Caa		tripeptidyl peptidase II							119.0	119.0	119.0					13																	103287990		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103287990G>C	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1447G>C	13.37:g.103287990G>C	ENSP00000365233:p.Glu483Gln					TPP2_ENST00000376065.4_Missense_Mutation_p.E483Q	p.E483Q			P29144	TPP2_HUMAN			12	1463	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		483					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.1447G>C	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199138	0.79015	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.43688	0.94;0.94	5.83	4.99	0.66335	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	L	0.41124	1.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57768	-0.7754	10	0.49607	T	0.09	.	16.4339	0.83864	0.0:0.0:0.8676:0.1323	.	483	P29144	TPP2_HUMAN	Q	483	ENSP00000365233:E483Q;ENSP00000365220:E483Q	ENSP00000365220:E483Q	E	+	1	0	TPP2	102085991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	1.462000	0.47948	0.563000	0.77884	GAA		0.353	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			9	88	0	0	0	1	0	9	88				
TMPRSS11E	28983	broad.mit.edu	37	4	69343128	69343128	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:69343128C>A	ENST00000305363.4	+	8	813	c.749C>A	c.(748-750)aCa>aAa	p.T250K		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	250	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T250I(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGGAGTAACAATAAAACCT	0.368																																						ENST00000305363.4																			2	Substitution - Missense(2)	p.T250I(2)	lung(2)	endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(748-750)aCa>aAa		transmembrane protease, serine 11E							141.0	154.0	150.0					4																	69343128		2203	4296	6499	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69343128C>A	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.749C>A	4.37:g.69343128C>A	ENSP00000307519:p.Thr250Lys						p.T250K	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			8	813	+			250			Peptidase S1.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.749C>A	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427841	0.25726	.	.	ENSG00000087128	ENST00000305363	T	0.60040	0.22	5.38	2.61	0.31194	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.126886	0.35466	N	0.003198	T	0.48857	0.1523	L	0.42008	1.315	0.22601	N	0.99894	D	0.55800	0.973	P	0.48598	0.583	T	0.43410	-0.9393	10	0.08599	T	0.76	.	9.4843	0.38919	0.2882:0.5727:0.1391:0.0	.	250	Q9UL52	TM11E_HUMAN	K	250	ENSP00000307519:T250K	ENSP00000307519:T250K	T	+	2	0	TMPRSS11E	69025723	0.019000	0.18553	0.163000	0.22734	0.079000	0.17450	0.608000	0.24223	0.206000	0.20587	-0.283000	0.09986	ACA		0.368	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		33	202	1	0	3.90053e-15	1	4.17632e-15	33	202				
BANF2	140836	broad.mit.edu	37	20	17716423	17716423	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:17716423C>T	ENST00000246090.5	+	4	502	c.240C>T	c.(238-240)caC>caT	p.H80H	BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000377805.3_Silent_p.H80H|BANF2_ENST00000545418.2_Silent_p.H87H	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	80						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						AGACTTCTCACTGCCTCAAGG	0.542																																						ENST00000246090.5																			0				large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						c.(238-240)caC>caT		barrier to autointegration factor 2							170.0	141.0	151.0					20																	17716423		2203	4300	6503	SO:0001819	synonymous_variant	140836					cytoplasm|nucleus	DNA binding	g.chr20:17716423C>T	BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 179"""	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.240C>T	20.37:g.17716423C>T						BANF2_ENST00000545418.2_Silent_p.H87H|BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000377805.3_Silent_p.H80H	p.H80H	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN			4	502	+			80					D3DW25|F5H3F6|Q7Z4M6	Silent	SNP	ENST00000246090.5	37	c.240C>T	CCDS13129.1																																																																																				0.542	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102261.2	NM_178477		16	89	0	0	0	1	0	16	89				
MYOM2	9172	broad.mit.edu	37	8	2048769	2048769	+	Silent	SNP	C	C	T	rs558634230		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:2048769C>T	ENST00000262113.4	+	20	2685	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	MYOM2_ENST00000523438.1_Silent_p.F273F	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	848	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGGATATTTCGTGGACTTCA	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18763	0.0		0.0	False		,,,				2504	0.0					ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2542-2544)ttC>ttT		myomesin 2							96.0	91.0	93.0					8																	2048769		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2048769C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2544C>T	8.37:g.2048769C>T						MYOM2_ENST00000523438.1_Silent_p.F273F	p.F848F	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	20	2685	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	848			Fibronectin type-III 5.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.2544C>T	CCDS5957.1																																																																																				0.542	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		9	60	0	0	0	1	0	9	60				
GNL1	2794	broad.mit.edu	37	6	30514076	30514076	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:30514076G>A	ENST00000376621.3	-	12	2567	c.1597C>T	c.(1597-1599)Cat>Tat	p.H533Y		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	533					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCTCTGGATGGGACTCCCAG	0.547																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1597-1599)Cat>Tat		guanine nucleotide binding protein-like 1							22.0	21.0	21.0					6																	30514076		2203	4300	6503	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30514076G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1597C>T	6.37:g.30514076G>A	ENSP00000365806:p.His533Tyr						p.H533Y	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			12	2567	-			533					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.1597C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684009	0.88639	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.48522	0.81	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.75777	2.31	0.58432	D	0.999999	D;D;P	0.76494	0.999;0.996;0.66	D;P;B	0.64410	0.925;0.731;0.252	T	0.51576	-0.8688	10	0.13470	T	0.59	0.0159	18.7765	0.91913	0.0:0.0:1.0:0.0	.	531;330;533	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	Y	533;355;330	ENSP00000365806:H533Y	ENSP00000365806:H533Y	H	-	1	0	GNL1	30622055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.503000	0.73699	2.739000	0.93911	0.561000	0.74099	CAT		0.547	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			5	11	0	0	0	1	0	5	11				
IGJ	3512	broad.mit.edu	37	4	71522083	71522083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:71522083T>C	ENST00000254801.4	-	4	612	c.443A>G	c.(442-444)gAa>gGa	p.E148G	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Missense_Mutation_p.E164G	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	148					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAAGGCTGTTTCCACCATTTT	0.448																																						ENST00000254801.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(442-444)gAa>gGa		immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides							152.0	127.0	135.0					4																	71522083		2203	4300	6503	SO:0001583	missense	3512				immune response	extracellular region	antigen binding	g.chr4:71522083T>C	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.443A>G	4.37:g.71522083T>C	ENSP00000254801:p.Glu148Gly					ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Missense_Mutation_p.E164G	p.E148G	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	Lung(101;0.235)		4	612	-			148						Missense_Mutation	SNP	ENST00000254801.4	37	c.443A>G	CCDS3545.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975415	0.34848	.	.	ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000543780;ENST00000510614	.	.	.	6.17	0.505	0.16953	.	1.403200	0.04289	N	0.345133	T	0.25269	0.0614	N	0.19112	0.55	0.09310	N	1	P	0.35272	0.493	B	0.31101	0.124	T	0.33929	-0.9849	9	0.56958	D	0.05	.	9.8488	0.41043	0.0:0.0668:0.3594:0.5738	.	148	P01591	IGJ_HUMAN	G	148;148;164;157	.	ENSP00000254801:E148G	E	-	2	0	IGJ	71740947	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.560000	0.23500	0.181000	0.19994	0.533000	0.62120	GAA		0.448	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		12	70	0	0	0	1	0	12	70				
P2RX2	22953	broad.mit.edu	37	12	133196268	133196268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:133196268G>A	ENST00000389110.3	+	3	350	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.G105S|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.G105S	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	105					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGCCCAGGGGGGCAGCGTGTT	0.756																																						ENST00000389110.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.(313-315)Ggc>Agc		purinergic receptor P2X, ligand-gated ion channel, 2							12.0	15.0	14.0					12																	133196268		2184	4269	6453	SO:0001583	missense	0				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133196268G>A	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.313G>A	12.37:g.133196268G>A	ENSP00000373762:p.Gly105Ser					P2RX2_ENST00000348800.5_Missense_Mutation_p.G105S|P2RX2_ENST00000343948.4_Missense_Mutation_p.G105S|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Intron	p.G105S	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	3	350	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	105					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.313G>A	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286994	0.80803	.	.	ENSG00000187848	ENST00000389110;ENST00000343948;ENST00000348800	T;T;T	0.03920	3.76;3.76;3.76	4.03	4.03	0.46877	.	0.218880	0.46758	N	0.000267	T	0.11836	0.0288	L	0.51914	1.62	0.58432	D	0.999999	P;P;P;P	0.51653	0.711;0.947;0.91;0.663	B;P;P;B	0.53313	0.408;0.701;0.723;0.35	T	0.02526	-1.1146	10	0.59425	D	0.04	-29.8562	15.9438	0.79779	0.0:0.0:1.0:0.0	.	105;105;105;105	Q32MC3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.;.;P2RX2_HUMAN;.	S	105	ENSP00000373762:G105S;ENSP00000343339:G105S;ENSP00000345095:G105S	ENSP00000343339:G105S	G	+	1	0	P2RX2	131706341	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	5.283000	0.65621	2.072000	0.62099	0.511000	0.50034	GGC		0.756	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			6	23	0	0	0	1	0	6	23				
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7578413C>G	ENST00000269305.4	-	5	706	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(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	CM070299	TP53	M		c.(517-519)Gtg>Ctg	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578413		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.chr17:7578413C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>C	17.37:g.7578413C>G	ENSP00000269305:p.Val173Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173L	p.V173L	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	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.517G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680628	0.88542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	44	0	0	0	1	0	42	44				
HIVEP2	3097	broad.mit.edu	37	6	143089533	143089533	+	Silent	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:143089533T>C	ENST00000367604.1	-	5	5967	c.5328A>G	c.(5326-5328)aaA>aaG	p.K1776K	HIVEP2_ENST00000367603.2_Silent_p.K1776K|HIVEP2_ENST00000012134.2_Silent_p.K1776K			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTTCAAATATTTTAATTCGGA	0.363																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5326-5328)aaA>aaG		human immunodeficiency virus type I enhancer binding protein 2							195.0	180.0	185.0					6																	143089533		1849	4083	5932	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143089533T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5328A>G	6.37:g.143089533T>C						HIVEP2_ENST00000012134.2_Silent_p.K1776K|HIVEP2_ENST00000367604.1_Silent_p.K1776K	p.K1776K	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	6	6070	-			1776					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.5328A>G	CCDS43510.1																																																																																				0.363	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			5	185	0	0	0	1	0	5	185				
DAD1	1603	broad.mit.edu	37	14	23058038	23058038	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:23058038A>C	ENST00000250498.4	-	1	137	c.26T>G	c.(25-27)aTt>aGt	p.I9S	DAD1_ENST00000543337.1_Missense_Mutation_p.I9S|DAD1_ENST00000538631.1_Missense_Mutation_p.I9S	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	9					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		GAACCGCGAAATGACAGACAC	0.572																																						ENST00000250498.4																			0				large_intestine(2)|ovary(2)|prostate(1)	5						c.(25-27)aTt>aGt		defender against cell death 1							79.0	75.0	76.0					14																	23058038		2203	4300	6503	SO:0001583	missense	1603				anti-apoptosis|apoptosis|post-translational protein modification	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr14:23058038A>C	AK223129	CCDS9571.1	14q11.2	2013-03-06			ENSG00000129562	ENSG00000129562			2664	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 2 homolog (S. cerevisiae)"", ""oligosaccharyltransferase subunit 2 (non-catalytic)"""	600243					Standard	NM_001344		Approved	OST2	uc001wgl.2	P61803	OTTHUMG00000028685	ENST00000250498.4:c.26T>G	14.37:g.23058038A>C	ENSP00000250498:p.Ile9Ser					DAD1_ENST00000538631.1_Missense_Mutation_p.I9S|DAD1_ENST00000543337.1_Missense_Mutation_p.I9S	p.I9S	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN		GBM - Glioblastoma multiforme(265;0.0156)	1	137	-	all_cancers(95;5.49e-05)		9					D3DS25|O08552|O70364|P46966|P46968|Q6FGA3|Q96GB7	Missense_Mutation	SNP	ENST00000250498.4	37	c.26T>G	CCDS9571.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997015	0.74818	.	.	ENSG00000129562	ENST00000250498;ENST00000538631;ENST00000543337	T;T;T	0.46819	0.86;0.86;0.86	5.49	5.49	0.81192	.	0.213853	0.48286	D	0.000181	T	0.48059	0.1479	M	0.67700	2.07	0.80722	D	1	B	0.27882	0.192	B	0.26202	0.067	T	0.51332	-0.8719	10	0.72032	D	0.01	-8.3161	13.5936	0.61975	1.0:0.0:0.0:0.0	.	9	P61803	DAD1_HUMAN	S	9	ENSP00000250498:I9S;ENSP00000440242:I9S;ENSP00000440821:I9S	ENSP00000250498:I9S	I	-	2	0	DAD1	22127878	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	6.884000	0.75600	2.304000	0.77564	0.528000	0.53228	ATT		0.572	DAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071617.2	NM_001344		30	65	0	0	0	1	0	30	65				
TRPM6	140803	broad.mit.edu	37	9	77435241	77435241	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:77435241C>T	ENST00000360774.1	-	9	1350	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Silent_p.E371E|TRPM6_ENST00000451710.3_Silent_p.E371E|TRPM6_ENST00000449912.2_Silent_p.E366E|TRPM6_ENST00000361255.3_Silent_p.E366E|TRPM6_ENST00000376871.3_Silent_p.E371E|TRPM6_ENST00000376872.3_Silent_p.E371E	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	371					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAACCATACACTCCATTAGAA	0.363																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1111-1113)gaG>gaA		transient receptor potential cation channel, subfamily M, member 6							140.0	127.0	132.0					9																	77435241		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77435241C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1113G>A	9.37:g.77435241C>T						TRPM6_ENST00000361255.3_Silent_p.E366E|TRPM6_ENST00000360774.1_Silent_p.E371E|TRPM6_ENST00000376864.4_Silent_p.E371E|TRPM6_ENST00000376871.3_Silent_p.E371E|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376872.3_Silent_p.E371E|TRPM6_ENST00000449912.2_Silent_p.E366E	p.E371E			Q9BX84	TRPM6_HUMAN			9	1350	-			371					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.1113G>A	CCDS6647.1																																																																																				0.363	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		20	72	0	0	0	1	0	20	72				
GPR116	221395	broad.mit.edu	37	6	46847698	46847698	+	Missense_Mutation	SNP	A	A	G	rs372211867		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:46847698A>G	ENST00000283296.7	-	9	1181	c.893T>C	c.(892-894)tTg>tCg	p.L298S	GPR116_ENST00000265417.7_Missense_Mutation_p.L298S|GPR116_ENST00000362015.4_Missense_Mutation_p.L298S|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	298	Ig-like 1.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGGAGGACAAAACTTCCTT	0.423																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(892-894)tTg>tCg		G protein-coupled receptor 116		A	SER/LEU,SER/LEU	0,4406		0,0,2203	174.0	148.0	157.0		893,893	-2.9	0.0	6		157	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GPR116	NM_001098518.1,NM_015234.4	145,145	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	298/1347,298/1347	46847698	1,13005	2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46847698A>G	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.893T>C	6.37:g.46847698A>G	ENSP00000283296:p.Leu298Ser					GPR116_ENST00000362015.4_Missense_Mutation_p.L298S|GPR116_ENST00000265417.7_Missense_Mutation_p.L298S|GPR116_ENST00000456426.2_Intron	p.L298S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		9	1181	-			298			Ig-like 1.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.893T>C	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	A	9.458	1.092241	0.20471	0.0	1.16E-4	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000265417	T;T;T	0.65549	-0.16;-0.16;-0.16	6.08	-2.88	0.05682	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.482540	0.04241	N	0.336978	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P;P	0.40534	0.72;0.72	B;B	0.40602	0.334;0.334	T	0.20273	-1.0280	10	0.51188	T	0.08	0.693	4.0392	0.09743	0.3266:0.0:0.3398:0.3336	.	298;298	A8K0D8;Q8IZF2	.;GP116_HUMAN	S	298	ENSP00000283296:L298S;ENSP00000354563:L298S;ENSP00000265417:L298S	ENSP00000265417:L298S	L	-	2	0	GPR116	46955657	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.342000	0.07801	-0.272000	0.09259	0.482000	0.46254	TTG		0.423	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		16	100	0	0	0	1	0	16	100				
SVIL	6840	broad.mit.edu	37	10	29811448	29811448	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:29811448C>G	ENST00000355867.4	-	16	4032	c.3280G>C	c.(3280-3282)Gag>Cag	p.E1094Q	SVIL_ENST00000535393.1_5'UTR|SVIL_ENST00000375400.3_Missense_Mutation_p.E668Q|SVIL_ENST00000375398.2_Missense_Mutation_p.E1094Q	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1094					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGAGCTTCTCCTGTGGCTGT	0.557																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(3280-3282)Gag>Cag		supervillin							75.0	74.0	74.0					10																	29811448		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29811448C>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3280G>C	10.37:g.29811448C>G	ENSP00000348128:p.Glu1094Gln					SVIL_ENST00000355867.4_Missense_Mutation_p.E1094Q|SVIL_ENST00000535393.1_5'UTR|SVIL_ENST00000375400.3_Missense_Mutation_p.E668Q	p.E1094Q			O95425	SVIL_HUMAN			18	3729	-		Breast(68;0.103)	1094					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3280G>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818608	0.90790	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535994	T;T;T	0.13089	2.62;2.63;2.63	5.74	5.74	0.90152	.	0.344683	0.30752	N	0.008951	T	0.36826	0.0981	M	0.69823	2.125	0.80722	D	1	D;D	0.67145	0.995;0.996	P;P	0.62014	0.897;0.826	T	0.01516	-1.1335	10	0.45353	T	0.12	-28.961	19.9357	0.97140	0.0:1.0:0.0:0.0	.	668;1094	O95425-2;O95425	.;SVIL_HUMAN	Q	668;1094;1094;48	ENSP00000364549:E668Q;ENSP00000364547:E1094Q;ENSP00000348128:E1094Q	ENSP00000348128:E1094Q	E	-	1	0	SVIL	29851454	0.999000	0.42202	0.670000	0.29842	0.101000	0.19017	5.267000	0.65530	2.715000	0.92844	0.655000	0.94253	GAG		0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			9	72	0	0	0	1	0	9	72				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	7	0	0	0	1	0	3	7				
ARMC6	93436	broad.mit.edu	37	19	19162910	19162910	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr19:19162910C>T	ENST00000535612.1	+	5	1191	c.759C>T	c.(757-759)gaC>gaT	p.D253D	ARMC6_ENST00000392335.2_Silent_p.D228D|ARMC6_ENST00000546344.1_Silent_p.D160D|ARMC6_ENST00000269932.6_Silent_p.D228D|ARMC6_ENST00000392336.3_Silent_p.D253D	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	253					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCTTCGATGACGACATCCGTG	0.572																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(757-759)gaC>gaT		armadillo repeat containing 6							94.0	52.0	67.0					19																	19162910		2203	4300	6503	SO:0001819	synonymous_variant	93436						protein binding	g.chr19:19162910C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.759C>T	19.37:g.19162910C>T						ARMC6_ENST00000269932.6_Silent_p.D228D|ARMC6_ENST00000546344.1_Silent_p.D160D|ARMC6_ENST00000392335.2_Silent_p.D228D|ARMC6_ENST00000392336.3_Silent_p.D253D	p.D253D	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	1191	+			253					B4DI98|O94999|Q9BTH5	Silent	SNP	ENST00000535612.1	37	c.759C>T	CCDS56089.1																																																																																				0.572	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		12	36	0	0	0	1	0	12	36				
TTC5	91875	broad.mit.edu	37	14	20763631	20763631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:20763631G>A	ENST00000258821.3	-	8	954	c.898C>T	c.(898-900)Cat>Tat	p.H300Y		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	300					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GGGCCTAGATGGGCTGGGCGC	0.547																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(898-900)Cat>Tat		tetratricopeptide repeat domain 5							52.0	46.0	48.0					14																	20763631		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20763631G>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.898C>T	14.37:g.20763631G>A	ENSP00000258821:p.His300Tyr						p.H300Y	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	8	954	-	all_cancers(95;0.00092)		300					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.898C>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.719605|2.719605	0.48728|0.48728	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000258821|ENST00000423949	T|.	0.33865|.	1.39|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.593958|.	0.18317|.	N|.	0.144939|.	T|T	0.38719|0.38719	0.1051|0.1051	N|N	0.19112|0.19112	0.55|0.55	0.23089|0.23089	N|N	0.998317|0.998317	B|.	0.24618|.	0.107|.	B|.	0.32980|.	0.156|.	T|T	0.30090|0.30090	-0.9990|-0.9990	10|5	0.66056|.	D|.	0.02|.	.|.	18.4138|18.4138	0.90561|0.90561	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	300|.	Q8N0Z6|.	TTC5_HUMAN|.	Y|L	300|244	ENSP00000258821:H300Y|.	ENSP00000258821:H300Y|.	H|P	-|-	1|2	0|0	TTC5|TTC5	19833471|19833471	0.999000|0.999000	0.42202|0.42202	0.876000|0.876000	0.34364|0.34364	0.992000|0.992000	0.81027|0.81027	3.420000|3.420000	0.52735|0.52735	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	CAT|CCA		0.547	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		3	61	0	0	0	1	0	3	61				
TTC12	54970	broad.mit.edu	37	11	113233185	113233185	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr11:113233185G>A	ENST00000529221.1	+	19	1782	c.1677G>A	c.(1675-1677)ttG>ttA	p.L559L	TTC12_ENST00000483239.2_Silent_p.L565L|TTC12_ENST00000393020.1_Silent_p.L559L|TTC12_ENST00000314756.3_Silent_p.L559L	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	559										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGGAGGCCTTGCGAGCAGGAG	0.423																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1675-1677)ttG>ttA		tetratricopeptide repeat domain 12							97.0	102.0	100.0					11																	113233185		2201	4296	6497	SO:0001819	synonymous_variant	54970						binding	g.chr11:113233185G>A	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1677G>A	11.37:g.113233185G>A						TTC12_ENST00000529221.1_Silent_p.L559L|TTC12_ENST00000483239.2_Silent_p.L565L|TTC12_ENST00000314756.3_Silent_p.L559L	p.L559L			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	19	2082	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	559					Q8N5H9|Q9NWY3	Silent	SNP	ENST00000529221.1	37	c.1677G>A	CCDS8360.2																																																																																				0.423	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		14	87	0	0	0	1	0	14	87				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	37	0	0	0	1	0	3	37				
PRKCH	5583	broad.mit.edu	37	14	62014584	62014584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:62014584C>T	ENST00000332981.5	+	13	2270	c.1885C>T	c.(1885-1887)Ccg>Tcg	p.P629S	RP11-47I22.4_ENST00000556347.1_Silent_p.N133N|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.1_ENST00000556543.1_RNA|PRKCH_ENST00000555082.1_Missense_Mutation_p.P468S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	629	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCAAATAGAACCGCCTTTCAG	0.522																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1885-1887)Ccg>Tcg		protein kinase C, eta							156.0	152.0	153.0					14																	62014584		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:62014584C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1885C>T	14.37:g.62014584C>T	ENSP00000329127:p.Pro629Ser					PRKCH_ENST00000555082.1_Missense_Mutation_p.P468S|RP11-47I22.4_ENST00000556347.1_Silent_p.N133N|PRKCH_ENST00000556245.1_3'UTR	p.P629S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	13	2270	+			629			AGC-kinase C-terminal.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1885C>T	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904064	0.92035	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.62232	0.04;0.04	5.99	5.99	0.97316	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000002	D	0.86138	0.5861	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88786	0.3274	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	629	P24723	KPCL_HUMAN	S	629;468	ENSP00000329127:P629S;ENSP00000450981:P468S	ENSP00000329127:P629S	P	+	1	0	PRKCH	61084337	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	5.905000	0.69893	2.840000	0.97914	0.655000	0.94253	CCG		0.522	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		50	130	0	0	0	1	0	50	130				
HLA-DRB6	3128	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGAAAATAGGATTGGGAGAGTA	0.475																																						ENST00000411500.1																			0																																																			0							g.chr6:32522379_32522380insC	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522379_32522380insC								NR_001298.1						0	740	-									RNA	INS	ENST00000411500.1	37																																																																																						0.475	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		5	10						5	10	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71445338	71445338	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:71445338delG	ENST00000304743.2	+	6	2730	c.2284delG	c.(2284-2286)gggfs	p.G762fs	PCNX_ENST00000439984.3_Frame_Shift_Del_p.G762fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.G762fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	762						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTCCTGAAGGGGAAGAGCA	0.418																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(2284-2286)ggfs		pecanex homolog (Drosophila)							78.0	77.0	77.0					14																	71445338		2203	4300	6503	SO:0001589	frameshift_variant	22990					integral to membrane		g.chr14:71445338delG	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2284delG	14.37:g.71445338delG	ENSP00000304192:p.Gly762fs					PCNX_ENST00000439984.3_Frame_Shift_Del_p.G762fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.G762fs	p.G762fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2730	+			762					B2RTR6|O94897|Q96AI7|Q9Y2J9	Frame_Shift_Del	DEL	ENST00000304743.2	37	c.2284delG	CCDS9806.1																																																																																				0.418	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		22	182						22	182	---	---	---	---
RP11-51L5.5	0	broad.mit.edu	37	17	60368374	60368374	+	RNA	DEL	A	A	-	rs201390339	byFrequency	TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:60368374delA	ENST00000602493.1	-	0	273																											AGTAACAATTAAAAAAAAACT	0.289													|||unknown(NO_COVERAGE)	1859	0.371206	0.1218	0.5086	5008	,	,		14481	0.6528		0.3549	False		,,,				2504	0.3374					ENST00000602493.1																			0																																																			0							g.chr17:60368374delA																													17.37:g.60368374delA														0	273	-									RNA	DEL	ENST00000602493.1	37																																																																																						0.289	RP11-51L5.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467668.1			6	4						6	4	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50377586	50377586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:50377586delG	ENST00000289292.7	-	4	1770	c.1487delC	c.(1486-1488)ccafs	p.P496fs	SHROOM4_ENST00000376020.2_Frame_Shift_Del_p.P496fs|SHROOM4_ENST00000460112.3_Frame_Shift_Del_p.P380fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	496					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCTCCATGTGGGGGACTGCT	0.527																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1486-1488)cafs		shroom family member 4							103.0	88.0	93.0					X																	50377586		2203	4300	6503	SO:0001589	frameshift_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377586delG	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1487delC	X.37:g.50377586delG	ENSP00000289292:p.Pro496fs					SHROOM4_ENST00000289292.7_Frame_Shift_Del_p.P496fs|SHROOM4_ENST00000460112.3_Frame_Shift_Del_p.P380fs	p.P496fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1512	-	Ovarian(276;0.236)		496					A7E2X9|D6RFW0|Q96LA0	Frame_Shift_Del	DEL	ENST00000289292.7	37	c.1487delC	CCDS35277.1																																																																																				0.527	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		18	100						18	100	---	---	---	---
