#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
ANK2	287	broad.mit.edu	37	4	114290838	114290838	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:114290838C>T	ENST00000357077.4	+	43	11540	c.11487C>T	c.(11485-11487)ccC>ccT	p.P3829P	ANK2_ENST00000510275.2_Silent_p.P396P|ANK2_ENST00000506722.1_Silent_p.P1735P|ANK2_ENST00000264366.6_Silent_p.P3796P|ANK2_ENST00000394537.3_Silent_p.P1744P|ANK2_ENST00000509550.1_Silent_p.P920P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3829					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACAAGAACCCGAAGAGCCCT	0.572																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(11485-11487)ccC>ccT		ankyrin 2, neuronal							67.0	64.0	65.0					4																	114290838		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114290838C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11487C>T	4.37:g.114290838C>T						ANK2_ENST00000264366.6_Silent_p.P3796P|ANK2_ENST00000506722.1_Silent_p.P1735P|ANK2_ENST00000509550.1_Silent_p.P920P|ANK2_ENST00000394537.3_Silent_p.P1744P|ANK2_ENST00000510275.2_Silent_p.P396P	p.P3829P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	43	11540	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3796					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.11487C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	4.537	0.099761	0.08681	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.55	-9.42	0.00610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.409	0.04420	0.3011:0.0893:0.1504:0.4592	.	.	.	.	X	746	.	.	R	+	1	2	ANK2	114510287	0.001000	0.12720	0.056000	0.19401	0.004000	0.04260	-2.408000	0.01042	-2.096000	0.00852	-1.889000	0.00537	CGA		0.572	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		4	36	0	0	0	0.184627	0	4	36				
PCDH18	54510	broad.mit.edu	37	4	138449742	138449742	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:138449742T>A	ENST00000344876.4	-	3	3016	c.2630A>T	c.(2629-2631)gAc>gTc	p.D877V	PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	877					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCCTCACTGTCACCACGGCC	0.423																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2629-2631)gAc>gTc		protocadherin 18							206.0	222.0	217.0					4																	138449742		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449742T>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2630A>T	4.37:g.138449742T>A	ENSP00000355082:p.Asp877Val					PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V	p.D877V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			3	3016	-	all_hematologic(180;0.24)		877					A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2630A>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.729456	0.89390	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.64438	-0.02;-0.0;-0.1;0.77;0.76	5.56	5.56	0.83823	.	0.000000	0.45126	D	0.000394	T	0.76772	0.4034	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.69078	0.997;0.988;0.997;0.988	D;P;D;P	0.67900	0.911;0.676;0.954;0.676	T	0.79659	-0.1711	10	0.87932	D	0	.	15.7229	0.77728	0.0:0.0:0.0:1.0	.	57;656;876;877	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	V	877;876;656;88;57	ENSP00000355082:D877V;ENSP00000390688:D876V;ENSP00000425903:D656V;ENSP00000424269:D88V;ENSP00000425647:D57V	ENSP00000355082:D877V	D	-	2	0	PCDH18	138669192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.108000	0.64289	0.533000	0.62120	GAC		0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		79	288	0	0	0	0.870114	0	79	288				
RBL2	5934	broad.mit.edu	37	16	53485706	53485706	+	Silent	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr16:53485706T>C	ENST00000262133.6	+	5	866	c.729T>C	c.(727-729)tgT>tgC	p.C243C	RBL2_ENST00000544545.1_Silent_p.C27C|RP11-44F14.5_ENST00000565073.1_RNA|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	243					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTTCAGTGTTCTAATCGTA	0.378																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(727-729)tgT>tgC		retinoblastoma-like 2 (p130)							191.0	172.0	179.0					16																	53485706		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53485706T>C	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.729T>C	16.37:g.53485706T>C						RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C27C	p.C243C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			5	866	+			243					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.729T>C	CCDS10748.1																																																																																				0.378	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		25	97	0	0	0	0.654019	0	25	97				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	50	0	0	0	0.150653	0	4	50				
TRIM36	55521	broad.mit.edu	37	5	114466299	114466299	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:114466299C>T	ENST00000282369.3	-	9	1943	c.1822G>A	c.(1822-1824)Gtt>Att	p.V608I	TRIM36_ENST00000513154.1_Missense_Mutation_p.V596I|TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	608	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A607fs*27(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTTGGACTAACTGCATCCCGG	0.393																																						ENST00000513154.1																			2	Deletion - Frameshift(2)	p.A607fs*27(2)	breast(2)	breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1786-1788)Gtt>Att		tripartite motif containing 36							88.0	89.0	88.0					5																	114466299		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114466299C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1822G>A	5.37:g.114466299C>T	ENSP00000282369:p.Val608Ile					TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I|TRIM36_ENST00000282369.3_Missense_Mutation_p.V608I	p.V596I			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	9	2112	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	608			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1786G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015880	0.19355	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.60171	0.21;0.21;0.21	5.55	2.43	0.29744	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.380665	0.32386	N	0.006176	T	0.28333	0.0700	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.004	T	0.07404	-1.0774	10	0.25751	T	0.34	.	2.1223	0.03729	0.2411:0.3989:0.0:0.36	.	596;608	E9PFI8;Q9NQ86	.;TRI36_HUMAN	I	608;596;453	ENSP00000282369:V608I;ENSP00000423934:V596I;ENSP00000424259:V453I	ENSP00000282369:V608I	V	-	1	0	TRIM36	114494198	0.998000	0.40836	0.993000	0.49108	0.966000	0.64601	4.570000	0.60872	1.332000	0.45431	-0.251000	0.11542	GTT		0.393	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		22	81	0	0	0	0.706142	0	22	81				
LYAR	55646	broad.mit.edu	37	4	4281393	4281393	+	Silent	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:4281393A>T	ENST00000343470.4	-	5	561	c.321T>A	c.(319-321)gtT>gtA	p.V107V	LYAR_ENST00000452476.1_Silent_p.V107V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	107						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTTCCTGGGAACGTTGTCAA	0.418																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(319-321)gtT>gtA		Ly1 antibody reactive							62.0	67.0	65.0					4																	4281393		2203	4300	6503	SO:0001819	synonymous_variant	55646					nucleolus	metal ion binding|protein binding	g.chr4:4281393A>T	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.321T>A	4.37:g.4281393A>T						LYAR_ENST00000452476.1_Silent_p.V107V	p.V107V	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	561	-			107					D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	c.321T>A	CCDS3374.1																																																																																				0.418	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		11	45	0	0	0	0.435327	0	11	45				
NDST4	64579	broad.mit.edu	37	4	115997743	115997743	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:115997743T>G	ENST00000264363.2	-	2	1128	c.450A>C	c.(448-450)ttA>ttC	p.L150F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	150	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATTTTTCTAAAAGCTCTC	0.343																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(448-450)ttA>ttC		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							58.0	63.0	61.0					4																	115997743		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997743T>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.450A>C	4.37:g.115997743T>G	ENSP00000264363:p.Leu150Phe						p.L150F	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1128	-		Ovarian(17;0.156)	150			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.450A>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157746	0.57368	.	.	ENSG00000138653	ENST00000264363	T	0.57595	0.39	5.04	-4.13	0.03904	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.87328	2.875	0.50813	D	0.999899	P	0.40000	0.698	P	0.48524	0.58	T	0.71520	-0.4568	10	0.59425	D	0.04	.	16.2473	0.82450	0.0:0.7226:0.0:0.2774	.	150	Q9H3R1	NDST4_HUMAN	F	150	ENSP00000264363:L150F	ENSP00000264363:L150F	L	-	3	2	NDST4	116217192	0.867000	0.29959	0.946000	0.38457	0.992000	0.81027	0.025000	0.13577	-0.948000	0.03668	-0.347000	0.07816	TTA		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		5	74	0	0	0	0.184627	0	5	74				
SLMO2	51012	broad.mit.edu	37	20	57613627	57613627	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:57613627C>G	ENST00000355937.4	-	2	273	c.95G>C	c.(94-96)aGt>aCt	p.S32T	SLMO2_ENST00000371033.5_Missense_Mutation_p.S32T	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	32	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			TCCAACCACACTTGGGTTCAT	0.453																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(94-96)aGt>aCt		slowmo homolog 2 (Drosophila)							123.0	119.0	120.0					20																	57613627		1929	4128	6057	SO:0001583	missense	51012							g.chr20:57613627C>G	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.95G>C	20.37:g.57613627C>G	ENSP00000348206:p.Ser32Thr					SLMO2_ENST00000371033.5_Missense_Mutation_p.S32T	p.S32T	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	273	-	all_lung(29;0.00711)		32			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	37	c.95G>C	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370895	0.61624	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.18016	2.24;2.24	5.36	4.42	0.53409	PRELI/MSF1 (2);	0.084915	0.85682	D	0.000000	T	0.23492	0.0568	M	0.77486	2.375	0.58432	D	0.999997	P;B	0.39717	0.684;0.122	B;B	0.38378	0.272;0.099	T	0.04268	-1.0964	10	0.35671	T	0.21	-9.2693	13.5156	0.61539	0.0:0.9245:0.0:0.0755	.	32;32	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	T	32	ENSP00000348206:S32T;ENSP00000360072:S32T	ENSP00000348206:S32T	S	-	2	0	SLMO2	57047022	0.994000	0.37717	0.782000	0.31804	0.988000	0.76386	3.741000	0.55090	1.399000	0.46721	0.655000	0.94253	AGT		0.453	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		4	199	0	0	0	0.150653	0	4	199				
TEP1	7011	broad.mit.edu	37	14	20845843	20845843	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:20845843G>A	ENST00000262715.5	-	40	5831	c.5791C>T	c.(5791-5793)Ctc>Ttc	p.L1931F	TEP1_ENST00000545983.1_Missense_Mutation_p.L269F|TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1931					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCACAGAGAGGGCAGGAGAG	0.547																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5791-5793)Ctc>Ttc		telomerase-associated protein 1							80.0	89.0	86.0					14																	20845843		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20845843G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5791C>T	14.37:g.20845843G>A	ENSP00000262715:p.Leu1931Phe					TEP1_ENST00000545983.1_Missense_Mutation_p.L269F|TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F	p.L1931F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	40	5831	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1931					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5791C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739748	0.69304	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.71341	0.63;-0.56;1.26	4.69	3.77	0.43336	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.265718	0.29884	N	0.010956	T	0.75451	0.3851	L	0.52364	1.645	0.39833	D	0.973006	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.946;0.998;0.999;0.996	T	0.70011	-0.4989	10	0.13470	T	0.59	-16.045	10.4552	0.44546	0.095:0.0:0.905:0.0	.	269;1823;1274;1931	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	F	1931;1931;1823;269	ENSP00000262715:L1931F;ENSP00000452574:L1823F;ENSP00000438849:L269F	ENSP00000262715:L1931F	L	-	1	0	TEP1	19915683	1.000000	0.71417	0.996000	0.52242	0.723000	0.41478	3.902000	0.56310	2.442000	0.82660	0.563000	0.77884	CTC		0.547	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		3	94	0	0	0	0.150653	0	3	94				
GSN	2934	broad.mit.edu	37	9	124064268	124064268	+	Nonsense_Mutation	SNP	G	G	T	rs143781307		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:124064268G>T	ENST00000373818.4	+	2	241	c.172G>T	c.(172-174)Gag>Tag	p.E58*	GSN_ENST00000373823.3_Nonsense_Mutation_p.E7*|GSN_ENST00000394353.2_Nonsense_Mutation_p.E18*|GSN_ENST00000449733.1_Nonsense_Mutation_p.E7*|GSN_ENST00000341272.2_Nonsense_Mutation_p.E7*|GSN_ENST00000412819.1_Nonsense_Mutation_p.E7*|GSN_ENST00000436847.1_Nonsense_Mutation_p.E18*|GSN_ENST00000373808.2_Nonsense_Mutation_p.E7*|GSN_ENST00000545652.1_Nonsense_Mutation_p.E15*	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	58	Actin-severing. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGAACACCCCGAGTTCCTCAA	0.622																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(19-21)Gag>Tag		gelsolin							111.0	104.0	106.0					9																	124064268		2203	4300	6503	SO:0001587	stop_gained	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124064268G>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.172G>T	9.37:g.124064268G>T	ENSP00000362924:p.Glu58*					GSN_ENST00000449733.1_Nonsense_Mutation_p.E7*|GSN_ENST00000373808.2_Nonsense_Mutation_p.E7*|GSN_ENST00000436847.1_Nonsense_Mutation_p.E18*|GSN_ENST00000545652.1_Nonsense_Mutation_p.E15*|GSN_ENST00000341272.2_Nonsense_Mutation_p.E7*|GSN_ENST00000394353.2_Nonsense_Mutation_p.E18*|GSN_ENST00000412819.1_Nonsense_Mutation_p.E7*|GSN_ENST00000373818.4_Nonsense_Mutation_p.E58*	p.E7*			P06396	GELS_HUMAN			10	924	+			58					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Nonsense_Mutation	SNP	ENST00000373818.4	37	c.19G>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	37	5.991296	0.97179	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	.	.	.	5.24	5.24	0.73138	.	0.140589	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-32.583	17.8184	0.88642	0.0:0.0:1.0:0.0	.	.	.	.	X	7;7;18;18;18;7;7;7;7;7;7;15;58	.	ENSP00000340888:E7X	E	+	1	0	GSN	123104089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.897000	0.87356	2.424000	0.82194	0.557000	0.71058	GAG		0.622	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		3	94	1	0	0.115264	0.115264	0.119106	3	94				
CSNK1G3	1456	broad.mit.edu	37	5	122926136	122926136	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:122926136A>G	ENST00000361991.2	+	8	904	c.874A>G	c.(874-876)Agg>Ggg	p.R292G	CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTATGTAAGAAGGCTAGATTT	0.259																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(874-876)Agg>Ggg		casein kinase 1, gamma 3							58.0	64.0	62.0					5																	122926136		2201	4284	6485	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122926136A>G	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.874A>G	5.37:g.122926136A>G	ENSP00000354942:p.Arg292Gly					CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G	p.R292G	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	9	1593	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	292			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.874A>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584716	0.65992	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.08670	0.0215	N	0.11870	0.19	0.54753	D	0.999984	B;P;B;P;P;P	0.49253	0.018;0.921;0.018;0.556;0.921;0.556	B;P;B;P;P;P	0.56612	0.043;0.802;0.043;0.584;0.802;0.584	T	0.52426	-0.8577	10	0.19590	T	0.45	.	15.0453	0.71822	1.0:0.0:0.0:0.0	.	217;293;180;292;292;292	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	G	292;292;292;180;217;292;293;292;292	ENSP00000378807:R292G;ENSP00000378806:R292G;ENSP00000334735:R292G;ENSP00000421385:R180G;ENSP00000421998:R217G;ENSP00000429412:R292G;ENSP00000423838:R293G;ENSP00000354942:R292G;ENSP00000353904:R292G	ENSP00000334735:R292G	R	+	1	2	CSNK1G3	122954035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.581000	0.36558	2.181000	0.69327	0.533000	0.62120	AGG		0.259	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		3	69	0	0	0	0.150653	0	3	69				
GPRC5A	9052	broad.mit.edu	37	12	13061954	13061954	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:13061954G>A	ENST00000014914.5	+	2	1661	c.771G>A	c.(769-771)ctG>ctA	p.L257L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	257					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGTGTTCCTGTTGGCTTATG	0.532																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(769-771)ctG>ctA		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						102.0	81.0	88.0					12																	13061954		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061954G>A	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.771G>A	12.37:g.13061954G>A						GPRC5A_ENST00000542056.1_Intron	p.L257L	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1661	+		Prostate(47;0.141)	257					B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.771G>A	CCDS8657.1																																																																																				0.532	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			11	30	0	0	0	0.411799	0	11	30				
GAS2L2	246176	broad.mit.edu	37	17	34079565	34079565	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:34079565G>A	ENST00000254466.6	-	1	332	c.305C>T	c.(304-306)gCc>gTc	p.A102V	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A102V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	102	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGCTGGGCGGCCCCATTGCA	0.622																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(304-306)gCc>gTc		growth arrest-specific 2 like 2							93.0	96.0	95.0					17																	34079565		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079565G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.305C>T	17.37:g.34079565G>A	ENSP00000254466:p.Ala102Val					GAS2L2_ENST00000587565.1_Missense_Mutation_p.A102V	p.A102V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	332	-		Ovarian(249;0.17)	102			CH.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.305C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781053	0.70222	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	T	0.18338	2.22	5.46	5.46	0.80206	Calponin homology domain (5);	0.217802	0.38272	N	0.001755	T	0.20981	0.0505	L	0.61218	1.895	0.35078	D	0.763118	P	0.37061	0.58	B	0.38655	0.278	T	0.16600	-1.0397	10	0.42905	T	0.14	-12.0011	11.8293	0.52285	0.0789:0.0:0.9211:0.0	.	102	Q8NHY3	GA2L2_HUMAN	V	102	ENSP00000254466:A102V	ENSP00000254466:A102V	A	-	2	0	GAS2L2	31103678	0.122000	0.22280	0.985000	0.45067	0.833000	0.47200	3.031000	0.49728	2.847000	0.97988	0.591000	0.81541	GCC		0.622	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		4	103	0	0	0	0.150653	0	4	103				
CSTF3	1479	broad.mit.edu	37	11	33117876	33117876	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:33117876T>C	ENST00000323959.4	-	15	1490	c.1351A>G	c.(1351-1353)Att>Gtt	p.I451V	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	451					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AGATAGTCAATATAGGCCAGG	0.338																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1351-1353)Att>Gtt		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							69.0	75.0	73.0					11																	33117876		2202	4295	6497	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33117876T>C	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1351A>G	11.37:g.33117876T>C	ENSP00000315791:p.Ile451Val					TCP11L1_ENST00000324357.9_Intron	p.I451V	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			15	1490	-			451					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1351A>G	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637443	0.47049	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.37584	1.19	5.91	5.91	0.95273	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.37466	1.105	0.80722	D	1	B	0.16802	0.019	B	0.22152	0.038	T	0.05370	-1.0889	10	0.45353	T	0.12	.	16.3432	0.83101	0.0:0.0:0.0:1.0	.	451	Q12996	CSTF3_HUMAN	V	451;384	ENSP00000315791:I451V	ENSP00000315791:I451V	I	-	1	0	CSTF3	33074452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.073000	0.71245	2.263000	0.75096	0.377000	0.23210	ATT		0.338	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		29	66	0	0	0	0.812448	0	29	66				
SOX12	6666	broad.mit.edu	37	20	306756	306756	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:306756C>G	ENST00000342665.2	+	1	518	c.188C>G	c.(187-189)cCc>cGc	p.P63R	RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.P63R	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	63					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|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 transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACCAGTGGCCCGACATGCAC	0.662																																						ENST00000342665.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(187-189)cCc>cGc		SRY (sex determining region Y)-box 12							37.0	32.0	33.0					20																	306756		2203	4300	6503	SO:0001583	missense	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:306756C>G	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.188C>G	20.37:g.306756C>G	ENSP00000347646:p.Pro63Arg					SOX12_ENST00000544632.1_Missense_Mutation_p.P63R|RP5-1103G7.4_ENST00000442637.1_RNA	p.P63R	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	518	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	63					Q5D038|Q9NUD4	Missense_Mutation	SNP	ENST00000342665.2	37	c.188C>G	CCDS12995.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818960	0.50633	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.99674	-6.36;-6.36	3.63	3.63	0.41609	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.52532	U	0.000078	D	0.99837	0.9926	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96585	0.9433	10	0.87932	D	0	.	12.8184	0.57679	0.0:1.0:0.0:0.0	.	63	O15370	SOX12_HUMAN	R	63	ENSP00000441671:P63R;ENSP00000347646:P63R	ENSP00000347646:P63R	P	+	2	0	SOX12	254756	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	6.920000	0.75799	1.858000	0.53909	0.313000	0.20887	CCC		0.662	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		7	20	0	0	0	0.361761	0	7	20				
SLIT1	6585	broad.mit.edu	37	10	98764485	98764485	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:98764485G>A	ENST00000266058.4	-	33	3920	c.3675C>T	c.(3673-3675)taC>taT	p.Y1225Y	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.Y1225Y	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1225	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGCCTGGGTCGTAGCTGACAC	0.607																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3673-3675)taC>taT		slit homolog 1 (Drosophila)							245.0	178.0	201.0					10																	98764485		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98764485G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3675C>T	10.37:g.98764485G>A						ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.Y1225Y	p.Y1225Y	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	33	3920	-		Colorectal(252;0.162)	1225			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.3675C>T	CCDS7453.1																																																																																				0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		3	59	0	0	0	0.184627	0	3	59				
GPR128	84873	broad.mit.edu	37	3	100348538	100348538	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr3:100348538G>T	ENST00000273352.3	+	2	480	c.212G>T	c.(211-213)gGa>gTa	p.G71V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	71					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGTGGAAAGGACTGAGATGT	0.388																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(211-213)gGa>gTa		G protein-coupled receptor 128							128.0	133.0	132.0					3																	100348538		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100348538G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.212G>T	3.37:g.100348538G>T	ENSP00000273352:p.Gly71Val						p.G71V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			2	480	+			71					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.212G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788271	0.70337	.	.	ENSG00000144820	ENST00000273352	T	0.72835	-0.69	5.11	5.11	0.69529	.	0.000000	0.51477	D	0.000100	D	0.82472	0.5044	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83883	0.0280	10	0.72032	D	0.01	.	13.9068	0.63841	0.0:0.0:1.0:0.0	.	71	Q96K78	GP128_HUMAN	V	71	ENSP00000273352:G71V	ENSP00000273352:G71V	G	+	2	0	GPR128	101831228	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	4.049000	0.57397	2.664000	0.90586	0.655000	0.94253	GGA		0.388	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	105	1	0	5.9392e-07	0.217242	6.81908e-07	4	105				
NMS	129521	broad.mit.edu	37	2	101087006	101087006	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:101087006T>C	ENST00000376865.1	+	1	63	c.56T>C	c.(55-57)aTg>aCg	p.M19T		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	19					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCTTCTGCATGCTACAGATT	0.537																																						ENST00000376865.1																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(55-57)aTg>aCg		neuromedin S							340.0	293.0	309.0					2																	101087006		2203	4300	6503	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101087006T>C	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.56T>C	2.37:g.101087006T>C	ENSP00000366061:p.Met19Thr						p.M19T	NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN			1	63	+			19						Missense_Mutation	SNP	ENST00000376865.1	37	c.56T>C	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	T	2.473	-0.321513	0.05386	.	.	ENSG00000204640	ENST00000376865	T	0.48201	0.82	4.32	-1.35	0.09114	.	1.237840	0.05634	N	0.582224	T	0.33556	0.0867	L	0.38175	1.15	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.17379	-1.0371	10	0.18276	T	0.48	0.0017	6.2987	0.21101	0.0:0.0972:0.5115:0.3913	.	19	Q5H8A3	NMS_HUMAN	T	19	ENSP00000366061:M19T	ENSP00000366061:M19T	M	+	2	0	NMS	100453438	0.000000	0.05858	0.005000	0.12908	0.872000	0.50106	0.175000	0.16762	-0.297000	0.08934	0.528000	0.53228	ATG		0.537	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		12	145	0	0	0	0.411799	0	12	145				
BGLT3	103344929	broad.mit.edu	37	11	5264445	5264445	+	RNA	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:5264445A>T	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							GAAGGAGATCAGCACCTTCTT	0.498																																						ENST00000454892.1																			0																																																			0							g.chr11:5264445A>T																													11.37:g.5264445A>T								NR_001589.1						0	51	-									RNA	SNP	ENST00000564523.1	37																																																																																						0.498	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000422245.1			10	24	0	0	0	0.387290	0	10	24				
CSMD3	114788	broad.mit.edu	37	8	113317094	113317094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr8:113317094G>A	ENST00000297405.5	-	52	8366	c.8122C>T	c.(8122-8124)Cga>Tga	p.R2708*	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2638*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2668*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2708	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCACAATTCGCCATCTTCCA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8122-8124)Cga>Tga		CUB and Sushi multiple domains 3							88.0	75.0	80.0					8																	113317094		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113317094G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8122C>T	8.37:g.113317094G>A	ENSP00000297405:p.Arg2708*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2668*|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2638*	p.R2708*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			52	8366	-			2708			Sushi 16.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.8122C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	49	15.614899	0.99839	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	.	.	.	5.18	-0.995	0.10222	.	0.083430	0.44902	D	0.000413	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	17.7529	0.88440	0.0:0.0:0.2774:0.7226	.	.	.	.	X	2668;2708;1978;2638	.	ENSP00000297405:R2708X	R	-	1	2	CSMD3	113386270	0.989000	0.36119	0.998000	0.56505	0.999000	0.98932	0.137000	0.15995	-0.089000	0.12484	0.655000	0.94253	CGA		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	44	0	0	0	0.387290	0	8	44				
PAIP2	51247	broad.mit.edu	37	5	138700332	138700332	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:138700332G>T	ENST00000394795.2	+	3	1209	c.218G>T	c.(217-219)tGg>tTg	p.W73L	PAIP2_ENST00000511381.1_3'UTR|CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	73	PABPC1-interacting motif-1 (PAM1).				memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGCATGAATGGTTTATTCCA	0.388																																						ENST00000394795.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(217-219)tGg>tTg		poly(A) binding protein interacting protein 2							112.0	100.0	104.0					5																	138700332		2203	4300	6503	SO:0001583	missense	51247				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity	g.chr5:138700332G>T	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.218G>T	5.37:g.138700332G>T	ENSP00000378275:p.Trp73Leu					PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L	p.W73L			Q9BPZ3	PAIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	1209	+			73			PABPC1-interacting motif-1 (PAM1).		B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Missense_Mutation	SNP	ENST00000394795.2	37	c.218G>T	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722402	0.89298	.	.	ENSG00000120727	ENST00000507755;ENST00000265192;ENST00000394795;ENST00000510080	.	.	.	5.79	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	M	0.65975	2.015	0.51767	D	0.999934	D	0.57571	0.98	P	0.59424	0.857	T	0.76421	-0.2965	9	0.56958	D	0.05	.	14.3689	0.66826	0.0714:0.0:0.9285:0.0	.	73	Q9BPZ3	PAIP2_HUMAN	L	73	.	ENSP00000265192:W73L	W	+	2	0	PAIP2	138728231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.408000	0.90221	1.449000	0.47699	0.655000	0.94253	TGG		0.388	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480		3	56	1	0	0.115264	0.115264	0.119106	3	56				
MYCBPAP	84073	broad.mit.edu	37	17	48601102	48601102	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:48601102C>T	ENST00000323776.5	+	12	1883	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACGCGGTCTCCCTGACCCAG	0.522																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(1720-1722)tCc>tTc		MYCBP associated protein							66.0	66.0	66.0					17																	48601102		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48601102C>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1721C>T	17.37:g.48601102C>T	ENSP00000323184:p.Ser574Phe					MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F	p.S574F	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		12	1883	+	Breast(11;1.23e-18)		537						Missense_Mutation	SNP	ENST00000323776.5	37	c.1721C>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938495	0.52972	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.45668	0.89;0.89	5.74	5.74	0.90152	.	0.170536	0.51477	D	0.000097	T	0.62575	0.2439	M	0.73962	2.25	0.41917	D	0.990496	D	0.76494	0.999	D	0.67548	0.952	T	0.66131	-0.6000	10	0.87932	D	0	-25.1144	13.1473	0.59470	0.0:0.9271:0.0:0.0729	.	537	Q8TBZ2	MYBPP_HUMAN	F	574;537	ENSP00000323184:S574F;ENSP00000397209:S537F	ENSP00000323184:S574F	S	+	2	0	MYCBPAP	45956101	1.000000	0.71417	0.998000	0.56505	0.183000	0.23260	4.367000	0.59498	2.717000	0.92951	0.655000	0.94253	TCC		0.522	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		19	45	0	0	0	0.539581	0	19	45				
TRAF2	7186	broad.mit.edu	37	9	139793320	139793320	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793320G>T	ENST00000247668.2	+	2	180	c.128G>T	c.(127-129)aGg>aTg	p.R43M	TRAF2_ENST00000359662.3_Missense_Mutation_p.R43M|TRAF2_ENST00000536468.1_Missense_Mutation_p.R43M	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTCCTCCGCAGGCCCTTCCAG	0.667																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(127-129)aGg>aTg		TNF receptor-associated factor 2							34.0	34.0	34.0					9																	139793320		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139793320G>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.128G>T	9.37:g.139793320G>T	ENSP00000247668:p.Arg43Met					TRAF2_ENST00000536468.1_Missense_Mutation_p.R43M|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43M	p.R43M			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	2	173	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	43					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.128G>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965357	0.74131	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645;ENST00000414589	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	4.49	4.49	0.54785	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	M	0.78637	2.42	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;0.999;1.0;0.994	D;D;D;D	0.79784	0.987;0.976;0.993;0.957	D	0.94171	0.7423	10	0.66056	D	0.02	-39.3385	17.5267	0.87802	0.0:0.0:1.0:0.0	.	43;43;43;43	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	M	43;43;43;67;43;43;43;43	ENSP00000405860:R43M;ENSP00000446414:R43M;ENSP00000406524:R43M;ENSP00000247668:R43M;ENSP00000352685:R43M;ENSP00000397653:R43M	ENSP00000247668:R43M	R	+	2	0	TRAF2	138913141	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	3.230000	0.51286	2.205000	0.71048	0.491000	0.48974	AGG		0.667	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		8	14	1	0	0.000157383	0.278610	0.000174246	8	14				
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48746131	48746131	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:48746131G>C	ENST00000341698.2	-	4	429	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V|TMEM189_ENST00000557021.1_Missense_Mutation_p.L144V|TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			AGCGGCAGCAGTGTCACCAGG	0.627																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(430-432)Ctg>Gtg		transmembrane protein 189							175.0	149.0	158.0					20																	48746131		2203	4300	6503	SO:0001583	missense	387521							g.chr20:48746131G>C	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.430C>G	20.37:g.48746131G>C	ENSP00000344166:p.Leu144Val					TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.L144V|TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V	p.L144V	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		4	590	-									Missense_Mutation	SNP	ENST00000341698.2	37	c.430C>G	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784414	0.31593	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.52526	0.66;0.66;0.9;0.9	5.26	3.31	0.37934	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	.	.	.	.	T	0.27663	0.0680	N	0.13140	0.3	0.20638	N	0.99987	B;B;B;B	0.14438	0.005;0.01;0.01;0.002	B;B;B;B	0.29267	0.032;0.1;0.1;0.009	T	0.32481	-0.9905	9	0.08381	T	0.77	-5.0339	6.7916	0.23703	0.218:0.1344:0.6476:0.0	.	69;141;144;144	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	V	144;144;141;69;144	ENSP00000344166:L144V;ENSP00000450635:L144V;ENSP00000360713:L141V;ENSP00000360715:L144V	ENSP00000360713:L141V	L	-	1	2	TMEM189-UBE2V1;TMEM189	48179538	0.688000	0.27680	0.943000	0.38184	0.991000	0.79684	0.945000	0.29056	1.210000	0.43336	0.491000	0.48974	CTG		0.627	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			20	61	0	0	0	0.624587	0	20	61				
SERPINE2	5270	broad.mit.edu	37	2	224849663	224849663	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:224849663C>T	ENST00000258405.4	-	5	932	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SERPINE2_ENST00000447280.2_Silent_p.S242S|SERPINE2_ENST00000409840.3_Silent_p.S230S|SERPINE2_ENST00000409304.1_Silent_p.S230S	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	230					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGGCACTTGTCGACCCTAAAG	0.498																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(688-690)tcG>tcA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							110.0	112.0	111.0					2																	224849663		2203	4300	6503	SO:0001819	synonymous_variant	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224849663C>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.690G>A	2.37:g.224849663C>T						SERPINE2_ENST00000409304.1_Silent_p.S230S|SERPINE2_ENST00000447280.2_Silent_p.S242S|SERPINE2_ENST00000258405.4_Silent_p.S230S	p.S230S			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1350	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	230					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	c.690G>A	CCDS2460.1																																																																																				0.498	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		3	54	0	0	0	0.115264	0	3	54				
PHLDB1	23187	broad.mit.edu	37	11	118498113	118498113	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:118498113T>C	ENST00000361417.2	+	7	985	c.574T>C	c.(574-576)Tct>Cct	p.S192P	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	192										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGGTGAGCTCTATTGAGAA	0.572																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(574-576)Tct>Cct		pleckstrin homology-like domain, family B, member 1							68.0	62.0	64.0					11																	118498113		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118498113T>C		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.574T>C	11.37:g.118498113T>C	ENSP00000354498:p.Ser192Pro					PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P	p.S192P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	985	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	192					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.574T>C	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.913858	0.72983	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.36699	1.24;1.24	5.94	5.94	0.96194	.	0.284702	0.33938	N	0.004401	T	0.57489	0.2057	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	T	0.57248	-0.7844	10	0.52906	T	0.07	-20.0667	16.0685	0.80907	0.0:0.0:0.0:1.0	.	191;192;192	B4DIX4;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	P	192;191;192;192	ENSP00000354498:S192P;ENSP00000348359:S192P	ENSP00000348359:S192P	S	+	1	0	PHLDB1	118003323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.542000	0.82095	2.272000	0.75746	0.460000	0.39030	TCT		0.572	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		17	49	0	0	0	0.539581	0	17	49				
ZSCAN1	284312	broad.mit.edu	37	19	58565071	58565071	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:58565071G>T	ENST00000282326.1	+	6	1126	c.879G>T	c.(877-879)caG>caT	p.Q293H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	293					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCTTCCAGTGTGCCGACT	0.642																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(877-879)caG>caT		zinc finger and SCAN domain containing 1							66.0	61.0	63.0					19																	58565071		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565071G>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.879G>T	19.37:g.58565071G>T	ENSP00000282326:p.Gln293His						p.Q293H	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1126	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	293					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.879G>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	8.156	0.788381	0.16258	.	.	ENSG00000152467	ENST00000282326	T	0.29142	1.58	1.14	-0.0355	0.13892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10895	0.0266	N	0.08118	0	0.80722	D	1	P	0.42078	0.77	B	0.32090	0.14	T	0.11348	-1.0591	9	0.54805	T	0.06	.	4.9546	0.14033	0.2698:0.0:0.7302:0.0	.	293	Q8NBB4	ZSCA1_HUMAN	H	293	ENSP00000282326:Q293H	ENSP00000282326:Q293H	Q	+	3	2	ZSCAN1	63256883	0.025000	0.19082	0.008000	0.14137	0.048000	0.14542	-0.109000	0.10840	0.010000	0.14839	0.491000	0.48974	CAG		0.642	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		20	43	1	0	3.01185e-09	0.667858	3.52329e-09	20	43				
PCDHB2	56133	broad.mit.edu	37	5	140475283	140475283	+	Silent	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:140475283G>T	ENST00000194155.4	+	1	1057	c.909G>T	c.(907-909)ctG>ctT	p.L303L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGAGAACTGCTTTTAAGAC	0.398																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(907-909)ctG>ctT									85.0	88.0	87.0					5																	140475283		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475283G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.909G>T	5.37:g.140475283G>T							p.L303L	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1057	+			303			Cadherin 3.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.909G>T	CCDS4244.1																																																																																				0.398	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		25	51	1	0	5.35356e-11	0.639603	6.38309e-11	25	51				
WFS1	7466	broad.mit.edu	37	4	6302431	6302431	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:6302431G>A	ENST00000226760.1	+	8	1079	c.909G>A	c.(907-909)ctG>ctA	p.L303L	WFS1_ENST00000503569.1_Silent_p.L303L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	303					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGAGTACCTGATTGACATGG	0.582																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(907-909)ctG>ctA		Wolfram syndrome 1 (wolframin)							236.0	182.0	200.0					4																	6302431		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302431G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.909G>A	4.37:g.6302431G>A						WFS1_ENST00000503569.1_Silent_p.L303L	p.L303L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1079	+			303					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.909G>A	CCDS3386.1																																																																																				0.582	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			23	48	0	0	0	0.729181	0	23	48				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	47	0	0	0	0.335167	0	6	47				
TP53BP2	7159	broad.mit.edu	37	1	223986246	223986246	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:223986246G>A	ENST00000343537.7	-	12	1910	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000391878.2_Missense_Mutation_p.S411L|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	534					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AACAACTGTTGACAACTGCTG	0.478																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1231-1233)tCa>tTa		tumor protein p53 binding protein, 2							115.0	119.0	118.0					1																	223986246		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986246G>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1619C>T	1.37:g.223986246G>A	ENSP00000341957:p.Ser540Leu					TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S540L	p.S411L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2000	-			534					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1232C>T	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549677	0.45383	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.48201	0.82;0.99	5.88	5.88	0.94601	.	0.226122	0.45361	D	0.000365	T	0.40372	0.1114	N	0.22421	0.69	0.80722	D	1	B;B	0.20671	0.047;0.003	B;B	0.19148	0.024;0.007	T	0.19844	-1.0293	10	0.66056	D	0.02	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	540;534	B4DG66;Q13625	.;ASPP2_HUMAN	L	411;540	ENSP00000375750:S411L;ENSP00000341957:S540L	ENSP00000341957:S540L	S	-	2	0	TP53BP2	222052869	0.996000	0.38824	0.847000	0.33407	0.135000	0.20990	6.764000	0.74960	2.782000	0.95742	0.655000	0.94253	TCA		0.478	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		4	108	0	0	0	0.150653	0	4	108				
FOXQ1	94234	broad.mit.edu	37	6	1313422	1313422	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:1313422G>A	ENST00000296839.2	+	1	748	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	161					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCAGCTACACGGGCTGGCGCA	0.652																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(481-483)acG>acA		forkhead box Q1							39.0	42.0	41.0					6																	1313422		2200	4291	6491	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313422G>A	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.483G>A	6.37:g.1313422G>A							p.T161T	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	748	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	161					Q9NS06	Silent	SNP	ENST00000296839.2	37	c.483G>A	CCDS4471.1																																																																																				0.652	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		3	55	0	0	0	0.184627	0	3	55				
SETX	23064	broad.mit.edu	37	9	135203782	135203782	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:135203782T>C	ENST00000224140.5	-	10	3385	c.3203A>G	c.(3202-3204)gAg>gGg	p.E1068G	SETX_ENST00000372169.2_Missense_Mutation_p.E1068G|SETX_ENST00000393220.1_Missense_Mutation_p.E1068G	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1068					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAAGAGTCTCTGTCTTTTC	0.373																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3202-3204)gAg>gGg		senataxin							122.0	124.0	123.0					9																	135203782		2202	4300	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203782T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3203A>G	9.37:g.135203782T>C	ENSP00000224140:p.Glu1068Gly					SETX_ENST00000224140.5_Missense_Mutation_p.E1068G|SETX_ENST00000393220.1_Missense_Mutation_p.E1068G	p.E1068G			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3385	-		Myeloproliferative disorder(178;0.204)	1068					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.3203A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	1.255	-0.617413	0.03663	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87103	-2.11;-2.21;-1.82	5.06	-10.1	0.00402	.	35.900700	0.00166	N	0.000000	T	0.65460	0.2693	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.61946	-0.6958	10	0.22109	T	0.4	.	4.5769	0.12238	0.1682:0.2329:0.4534:0.1456	.	1068;1068;1068	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	G	1068	ENSP00000224140:E1068G;ENSP00000361242:E1068G;ENSP00000376913:E1068G	ENSP00000224140:E1068G	E	-	2	0	SETX	134193603	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.302000	0.00520	-3.046000	0.00261	0.533000	0.62120	GAG		0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	115	0	0	0	0.115264	0	3	115				
EMC1	23065	broad.mit.edu	37	1	19557342	19557342	+	Missense_Mutation	SNP	C	C	T	rs374969388		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:19557342C>T	ENST00000477853.1	-	17	2102	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	EMC1_ENST00000375208.3_Missense_Mutation_p.R665Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.R686Q	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	687						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCCTACCTTTCGAAGCCGATA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18265	0.001		0.0	False		,,,				2504	0.0					ENST00000477853.1																			0											c.(2059-2061)cGa>cAa		ER membrane protein complex subunit 1		C	GLN/ARG	0,4406		0,0,2203	201.0	196.0	198.0		2060	4.4	1.0	1		198	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0090	NM_015047.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	687/994	19557342	1,13005	2203	4300	6503	SO:0001583	missense	23065							g.chr1:19557342C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2060G>A	1.37:g.19557342C>T	ENSP00000420608:p.Arg687Gln					EMC1_ENST00000375208.3_Missense_Mutation_p.R665Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.R686Q	p.R687Q	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					17	2102	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.2060G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203216	0.58234	0.0	1.16E-4	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.21361	2.02;2.01;2.01	5.27	4.36	0.52297	.	0.131711	0.51477	D	0.000083	T	0.09862	0.0242	N	0.25426	0.745	0.80722	D	1	B;B;P;P	0.48230	0.034;0.164;0.907;0.85	B;B;B;B	0.34038	0.027;0.045;0.174;0.084	T	0.19257	-1.0311	10	0.13853	T	0.58	-3.4762	7.76	0.28946	0.0:0.7529:0.0:0.247	.	665;686;686;687	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	Q	687;686;665	ENSP00000420608:R687Q;ENSP00000364345:R686Q;ENSP00000364354:R665Q	ENSP00000364345:R686Q	R	-	2	0	KIAA0090	19429929	0.998000	0.40836	1.000000	0.80357	0.861000	0.49209	3.574000	0.53863	1.351000	0.45789	0.561000	0.74099	CGA		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		66	175	0	0	0	0.870114	0	66	175				
HUS1	3364	broad.mit.edu	37	7	48018175	48018175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:48018175C>A	ENST00000258774.5	-	3	219	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	HUS1_ENST00000432325.1_Nonsense_Mutation_p.E45*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	66					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ATTTGAAATTCGTTGAAGAAG	0.438								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(196-198)Gaa>Taa	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							63.0	63.0	63.0					7																	48018175		2203	4300	6503	SO:0001587	stop_gained	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48018175C>A	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.196G>T	7.37:g.48018175C>A	ENSP00000258774:p.Glu66*					HUS1_ENST00000432325.1_Nonsense_Mutation_p.E45*	p.E66*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN			3	219	-		Breast(660;0.00139)	66					B4DFI9	Nonsense_Mutation	SNP	ENST00000258774.5	37	c.196G>T	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	37	6.036592	0.97226	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	.	.	.	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.6824	11.8896	0.52622	0.0:0.9157:0.0:0.0843	.	.	.	.	X	66;45;45;45	.	ENSP00000258774:E66X	E	-	1	0	HUS1	47984700	1.000000	0.71417	0.122000	0.21767	0.940000	0.58332	5.743000	0.68655	1.312000	0.45043	0.655000	0.94253	GAA		0.438	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		19	35	1	0	5.26018e-13	0.608945	6.39473e-13	19	35				
KRT84	3890	broad.mit.edu	37	12	52774883	52774883	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:52774883A>G	ENST00000257951.3	-	6	1250	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	395	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCGTGCTCAATCTCTGCCTT	0.562																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(1183-1185)aTt>aCt		keratin 84							236.0	208.0	217.0					12																	52774883		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52774883A>G	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1184T>C	12.37:g.52774883A>G	ENSP00000257951:p.Ile395Thr					RP3-416H24.4_ENST00000547174.1_RNA	p.I395T	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1250	-	all_hematologic(5;0.12)		395			Coil 2.|Rod.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.1184T>C	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	a	14.37	2.515090	0.44763	.	.	ENSG00000161849	ENST00000257951	D	0.91068	-2.78	5.54	3.05	0.35203	Filament (1);	0.470122	0.18319	N	0.144875	D	0.88753	0.6522	M	0.77406	2.37	0.27017	N	0.964553	B	0.18166	0.026	B	0.18871	0.023	T	0.82715	-0.0320	10	0.62326	D	0.03	.	7.3466	0.26666	0.8018:0.0:0.07:0.1282	.	395	Q9NSB2	KRT84_HUMAN	T	395	ENSP00000257951:I395T	ENSP00000257951:I395T	I	-	2	0	KRT84	51061150	0.975000	0.34042	0.520000	0.27837	0.899000	0.52679	3.818000	0.55678	0.941000	0.37499	-0.253000	0.11424	ATT		0.562	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		8	196	0	0	0	0.335167	0	8	196				
CREG2	200407	broad.mit.edu	37	2	102003787	102003787	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:102003787C>G	ENST00000324768.5	-	1	270	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	CREG2_ENST00000495455.1_5'Flank	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	45						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TCGTCCACCTCGTTGGTGACG	0.687																																						ENST00000324768.4																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(133-135)Gag>Cag		cellular repressor of E1A-stimulated genes 2							13.0	11.0	12.0					2																	102003787		2163	4254	6417	SO:0001583	missense	200407					extracellular region	FMN binding	g.chr2:102003787C>G	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.133G>C	2.37:g.102003787C>G	ENSP00000315203:p.Glu45Gln						p.E45Q	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN			1	270	-			45					Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	c.133G>C	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874792	0.91664	.	.	ENSG00000175874	ENST00000324768	T	0.51325	0.71	4.06	4.06	0.47325	.	0.198942	0.43919	D	0.000518	T	0.60314	0.2259	L	0.53249	1.67	0.42742	D	0.993748	D	0.71674	0.998	P	0.60682	0.878	T	0.64592	-0.6371	10	0.52906	T	0.07	.	15.9821	0.80116	0.0:1.0:0.0:0.0	.	45	Q8IUH2	CREG2_HUMAN	Q	45	ENSP00000315203:E45Q	ENSP00000315203:E45Q	E	-	1	0	CREG2	101370219	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.128000	0.57951	2.089000	0.63090	0.484000	0.47621	GAG		0.687	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		2	3	0	0	0	0.150653	0	2	3				
GALNT10	55568	broad.mit.edu	37	5	153795366	153795366	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:153795366G>C	ENST00000297107.6	+	11	1664	c.1527G>C	c.(1525-1527)gaG>gaC	p.E509D	SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	509	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCTGGAGAGAGGACATCCGGC	0.488																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1525-1527)gaG>gaC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							119.0	118.0	118.0					5																	153795366		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153795366G>C	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1527G>C	5.37:g.153795366G>C	ENSP00000297107:p.Glu509Asp					GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D|SAP30L-AS1_ENST00000524264.1_RNA	p.E509D	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		11	1664	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	509			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1527G>C	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854922	0.71719	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.27256	1.68;1.68;1.68	5.6	1.29	0.21616	Ricin B-related lectin (1);Ricin B lectin (3);	0.362716	0.32488	N	0.006029	T	0.39759	0.1090	L	0.56769	1.78	0.41376	D	0.987526	D;B;P	0.71674	0.998;0.175;0.497	D;B;B	0.85130	0.997;0.224;0.256	T	0.09378	-1.0677	10	0.30854	T	0.27	.	8.3438	0.32261	0.5506:0.0:0.4494:0.0	.	447;180;509	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	D	509;447;182	ENSP00000297107:E509D;ENSP00000366889:E447D;ENSP00000366885:E182D	ENSP00000297107:E509D	E	+	3	2	GALNT10	153775559	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.393000	0.20817	0.322000	0.23283	-0.140000	0.14226	GAG		0.488	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		48	150	0	0	0	0.870114	0	48	150				
SYNGAP1	8831	broad.mit.edu	37	6	33411229	33411229	+	Missense_Mutation	SNP	G	G	A	rs557096495		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:33411229G>A	ENST00000418600.2	+	15	3001	c.2900G>A	c.(2899-2901)cGa>cAa	p.R967Q	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R967Q|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R908Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	967					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.R967Q(1)|p.R952Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						caccaccaccGAGGTGGAGAG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16211	0.0		0.001	False		,,,				2504	0.0					ENST00000418600.2																			2	Substitution - Missense(2)	p.R967Q(1)|p.R952Q(1)	lung(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2899-2901)cGa>cAa		synaptic Ras GTPase activating protein 1							86.0	97.0	93.0					6																	33411229		2202	4300	6502	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411229G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2900G>A	6.37:g.33411229G>A	ENSP00000403636:p.Arg967Gln					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R908Q|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R967Q|SYNGAP1_ENST00000496374.1_3'UTR	p.R967Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	3001	+			967					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.2900G>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436019	0.25813	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.15952	2.38;2.47;2.46	4.37	4.37	0.52481	.	1.776860	0.03080	N	0.158376	T	0.06735	0.0172	N	0.08118	0	0.47905	D	0.999548	D;D;D	0.64830	0.994;0.977;0.992	P;P;P	0.49922	0.626;0.492;0.492	T	0.38329	-0.9666	10	0.11182	T	0.66	.	12.2845	0.54786	0.0:0.0:1.0:0.0	.	967;967;967	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	Q	967;967;953;908	ENSP00000293748:R967Q;ENSP00000403636:R967Q;ENSP00000412475:R908Q	ENSP00000293748:R967Q	R	+	2	0	SYNGAP1	33519207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.152000	0.58111	2.275000	0.75901	0.491000	0.48974	CGA		0.662	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		19	128	0	0	0	0.539581	0	19	128				
TRAF2	7186	broad.mit.edu	37	9	139793321	139793321	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793321G>T	ENST00000247668.2	+	2	181	c.129G>T	c.(127-129)agG>agT	p.R43S	TRAF2_ENST00000359662.3_Missense_Mutation_p.R43S|TRAF2_ENST00000536468.1_Missense_Mutation_p.R43S	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TCCTCCGCAGGCCCTTCCAGG	0.662																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(127-129)agG>agT		TNF receptor-associated factor 2							34.0	33.0	33.0					9																	139793321		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139793321G>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.129G>T	9.37:g.139793321G>T	ENSP00000247668:p.Arg43Ser					TRAF2_ENST00000536468.1_Missense_Mutation_p.R43S|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43S	p.R43S			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	2	174	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	43					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.129G>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548125	0.65311	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645;ENST00000414589	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.49	-0.181	0.13291	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	L	0.52573	1.65	0.53688	D	0.999977	D;P;D;P	0.69078	0.991;0.944;0.997;0.772	D;P;D;P	0.71184	0.931;0.81;0.972;0.602	T	0.81075	-0.1097	10	0.25106	T	0.35	-39.3385	8.8342	0.35102	0.5332:0.0:0.4668:0.0	.	43;43;43;43	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	S	43;43;43;67;43;43;43;43	ENSP00000405860:R43S;ENSP00000446414:R43S;ENSP00000406524:R43S;ENSP00000247668:R43S;ENSP00000352685:R43S;ENSP00000397653:R43S	ENSP00000247668:R43S	R	+	3	2	TRAF2	138913142	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	0.654000	0.24918	0.113000	0.18004	0.491000	0.48974	AGG		0.662	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		7	14	1	0	0.00198382	0.248553	0.00212063	7	14				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	43	0	0	0	0.115264	0	3	43				
SYNE3	161176	broad.mit.edu	37	14	95932575	95932575	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:95932575C>T	ENST00000334258.5	-	3	334	c.320G>A	c.(319-321)cGc>cAc	p.R107H	SYNE3_ENST00000557275.1_Missense_Mutation_p.R107H|SYNE3_ENST00000553340.1_Missense_Mutation_p.R107H	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	107					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCACTCGATGCGGCTGTGGGC	0.622																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(319-321)cGc>cAc		spectrin repeat containing, nuclear envelope family member 3							37.0	41.0	40.0					14																	95932575		2202	4297	6499	SO:0001583	missense	161176							g.chr14:95932575C>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.320G>A	14.37:g.95932575C>T	ENSP00000334308:p.Arg107His					SYNE3_ENST00000557275.1_Missense_Mutation_p.R107H|SYNE3_ENST00000553340.1_Missense_Mutation_p.R107H	p.R107H	NM_152592.3	NP_689805.3					3	334	-								A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.320G>A	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.514843	0.85389	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.36340	1.26;1.26;1.26	4.12	4.12	0.48240	.	0.154975	0.26719	N	0.022848	T	0.56247	0.1972	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.973;0.964	T	0.54576	-0.8273	10	0.25106	T	0.35	-15.142	16.4126	0.83723	0.0:1.0:0.0:0.0	.	107;107;107	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	H	107	ENSP00000334308:R107H;ENSP00000450562:R107H;ENSP00000450774:R107H	ENSP00000334308:R107H	R	-	2	0	C14orf49	95002328	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.292000	0.78731	1.828000	0.53243	0.298000	0.19748	CGC		0.622	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		3	87	0	0	0	0.150653	0	3	87				
AOC1	26	broad.mit.edu	37	7	150554545	150554545	+	Silent	SNP	C	C	T	rs546583289		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:150554545C>T	ENST00000493429.1	+	4	1571	c.987C>T	c.(985-987)cgC>cgT	p.R329R	AOC1_ENST00000360937.4_Silent_p.R329R|AOC1_ENST00000467291.1_Silent_p.R329R|AOC1_ENST00000416793.2_Silent_p.R329R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	329					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TCCGGCTGCGCTCCTCCTCCG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14050	0.001		0.0	False		,,,				2504	0.0					ENST00000493429.1																			0											c.(985-987)cgC>cgT		amine oxidase, copper containing 1							25.0	27.0	26.0					7																	150554545		2202	4296	6498	SO:0001819	synonymous_variant	26							g.chr7:150554545C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.987C>T	7.37:g.150554545C>T						AOC1_ENST00000416793.2_Silent_p.R329R|AOC1_ENST00000467291.1_Silent_p.R329R|AOC1_ENST00000360937.4_Silent_p.R329R	p.R329R							4	1571	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.987C>T	CCDS43679.1																																																																																				0.662	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		16	36	0	0	0	0.520397	0	16	36				
RNF220	55182	broad.mit.edu	37	1	45111052	45111052	+	Intron	SNP	G	G	A	rs368735304		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:45111052G>A	ENST00000355387.2	+	12	1816				RNF220_ENST00000361799.2_Intron|TMEM53_ENST00000372244.3_Missense_Mutation_p.P49L|RNF220_ENST00000480686.1_Intron|TMEM53_ENST00000372243.3_Missense_Mutation_p.R90W|RNF220_ENST00000443020.2_Intron|RNF220_ENST00000372247.2_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.R180W			Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R180W(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CAGTCTGGCCGGAGTGTGAGT	0.592																																						ENST00000372242.3																			1	Substitution - Missense(1)	p.R180W(1)	large_intestine(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(538-540)Cgg>Tgg		transmembrane protein 53		G		0,4406		0,0,2203	71.0	62.0	65.0			1.1	0.9	1		65	1,8599	1.2+/-3.3	0,1,4299	no	intron	RNF220	NM_018150.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			45111052	1,13005	2203	4300	6503	SO:0001627	intron_variant	79639					integral to membrane		g.chr1:45111052G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1367-30G>A	1.37:g.45111052G>A						RNF220_ENST00000355387.2_Intron|RNF220_ENST00000443020.2_Intron|RNF220_ENST00000480686.1_Intron|RNF220_ENST00000372247.2_Intron|TMEM53_ENST00000372243.3_Missense_Mutation_p.R90W|RNF220_ENST00000361799.2_Intron|TMEM53_ENST00000372244.3_Missense_Mutation_p.P49L	p.R180W			Q6P2H8	TMM53_HUMAN			4	605	-	Acute lymphoblastic leukemia(166;0.155)		0					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.538C>T	CCDS510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.919|1.919	-0.448899|-0.448899	0.04572|0.04572	0.0|0.0	1.16E-4|1.16E-4	ENSG00000126106|ENSG00000126106	ENST00000372244|ENST00000372243;ENST00000372242	.|.	.|.	.|.	4.91|4.91	1.07|1.07	0.20283|0.20283	.|.	.|.	.|.	.|.	.|.	T|T	0.25195|0.25195	0.0612|0.0612	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.29792|0.29792	-1.0000|-1.0000	5|7	0.87932|0.66056	D|D	0|0.02	.|.	0.4565|0.4565	0.00509|0.00509	0.4103:0.182:0.2308:0.1769|0.4103:0.182:0.2308:0.1769	.|.	.|90	.|Q5TDE6	.|.	L|W	49|90;180	.|.	ENSP00000361318:P49L|ENSP00000361316:R180W	P|R	-|-	2|1	0|2	TMEM53|TMEM53	44883639|44883639	0.000000|0.000000	0.05858|0.05858	0.935000|0.935000	0.37517|0.37517	0.522000|0.522000	0.34438|0.34438	0.043000|0.043000	0.13971|0.13971	0.714000|0.714000	0.32081|0.32081	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		4	31	0	0	0	0.150653	0	4	31				
KCNT1	57582	broad.mit.edu	37	9	138656961	138656961	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:138656961G>A	ENST00000263604.3	+	12	1063	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	KCNT1_ENST00000487664.1_Missense_Mutation_p.V329M|KCNT1_ENST00000298480.5_Missense_Mutation_p.V374M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V335M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V355M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V341M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V374M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V355M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	355					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGAAGCACGTGGTCCTGTG	0.612																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1120-1122)Gtg>Atg		potassium channel, subfamily T, member 1							197.0	173.0	181.0					9																	138656961		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138656961G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1063G>A	9.37:g.138656961G>A	ENSP00000263604:p.Val355Met					KCNT1_ENST00000263604.3_Missense_Mutation_p.V355M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V341M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V355M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V329M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V335M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V374M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V355M	p.V374M			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	12	1194	+		Myeloproliferative disorder(178;0.0821)	374					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1120G>A		.	.	.	.	.	.	.	.	.	.	G	25.2	4.613223	0.87359	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	4.35	4.35	0.52113	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000003	T	0.55497	0.1924	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	0.981;1.0;0.999;1.0	P;D;D;D	0.68353	0.841;0.957;0.944;0.957	T	0.65998	-0.6032	10	0.87932	D	0	-34.9174	16.0187	0.80464	0.0:0.0:1.0:0.0	.	341;374;329;355	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	329;374;374;335;341;355;355;355	ENSP00000417851:V329M;ENSP00000298480:V374M;ENSP00000360822:V374M;ENSP00000263604:V355M	ENSP00000263604:V355M	V	+	1	0	KCNT1	137796782	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.285000	0.95894	2.241000	0.73720	0.462000	0.41574	GTG		0.612	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		4	93	0	0	0	0.217242	0	4	93				
TMEM143	55260	broad.mit.edu	37	19	48848545	48848545	+	Missense_Mutation	SNP	G	G	A	rs561229332		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:48848545G>A	ENST00000293261.3	-	4	752	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	TMEM143_ENST00000541566.1_Missense_Mutation_p.R36C|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Missense_Mutation_p.R111C	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	146					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTAGACAGACGCTGGGGATCC	0.582																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(436-438)Cgt>Tgt		transmembrane protein 143							130.0	128.0	129.0					19																	48848545		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48848545G>A	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.436C>T	19.37:g.48848545G>A	ENSP00000293261:p.Arg146Cys					TMEM143_ENST00000541566.1_Missense_Mutation_p.R36C|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000435956.3_Missense_Mutation_p.R111C|TMEM143_ENST00000377431.2_Intron	p.R146C	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	4	752	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	146					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.436C>T	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872207	0.51695	.	.	ENSG00000161558	ENST00000293261;ENST00000435956;ENST00000541566	T;T;T	0.54071	0.67;0.59;0.62	4.33	4.33	0.51752	.	0.303860	0.24200	N	0.040626	T	0.59142	0.2172	L	0.32530	0.975	0.80722	D	1	B;D	0.89917	0.146;1.0	B;D	0.73708	0.018;0.981	T	0.59423	-0.7457	10	0.49607	T	0.09	-7.086	11.2841	0.49212	0.0:0.0:0.8172:0.1827	.	111;146	B4DMT0;Q96AN5	.;TM143_HUMAN	C	146;111;36	ENSP00000293261:R146C;ENSP00000397038:R111C;ENSP00000444275:R36C	ENSP00000293261:R146C	R	-	1	0	TMEM143	53540357	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	2.398000	0.44486	2.135000	0.66039	0.305000	0.20034	CGT		0.582	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		8	200	0	0	0	0.387290	0	8	200				
OC90	729330	broad.mit.edu	37	8	133053851	133053851	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr8:133053851G>C	ENST00000443356.2	-	5	351	c.265C>G	c.(265-267)Ctc>Gtc	p.L89V	OC90_ENST00000262283.5_Missense_Mutation_p.L285V|OC90_ENST00000603859.1_Missense_Mutation_p.L89V|OC90_ENST00000254627.3_Missense_Mutation_p.L89V			Q02509	OC90_HUMAN	otoconin 90	89	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CGGGGGCAGAGACCAGCCACA	0.527																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(853-855)Ctc>Gtc		otoconin 90							43.0	45.0	45.0					8																	133053851		2021	4181	6202	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053851G>C	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.265C>G	8.37:g.133053851G>C	ENSP00000390050:p.Leu89Val					OC90_ENST00000254627.3_Missense_Mutation_p.L89V|OC90_ENST00000443356.2_Missense_Mutation_p.L89V|OC90_ENST00000603859.1_Missense_Mutation_p.L89V	p.L285V			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	952	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		89					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.853C>G		.	.	.	.	.	.	.	.	.	.	G	16.87	3.242352	0.58995	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26518	1.73;1.73;1.73	5.88	5.0	0.66597	Phospholipase A2 (3);	0.206931	0.42053	D	0.000776	T	0.36082	0.0954	L	0.52011	1.625	0.26106	N	0.980754	D;D	0.55385	0.964;0.971	P;P	0.60286	0.742;0.872	T	0.17228	-1.0376	10	0.37606	T	0.19	-18.6967	7.1554	0.25635	0.0882:0.0:0.7396:0.1722	.	89;89	Q02509-2;Q02509	.;OC90_HUMAN	V	89;89;285	ENSP00000254627:L89V;ENSP00000390050:L89V;ENSP00000262283:L285V	ENSP00000254627:L89V	L	-	1	0	RP11-240B13.2;OC90	133123033	0.909000	0.30893	0.914000	0.36105	0.994000	0.84299	1.113000	0.31184	1.469000	0.48083	-0.293000	0.09583	CTC		0.527	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		19	45	0	0	0	0.639603	0	19	45				
MICU1	10367	broad.mit.edu	37	10	74128038	74128038	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:74128038T>C	ENST00000361114.5	-	12	1442	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	MICU1_ENST00000398763.4_Missense_Mutation_p.K251R|MICU1_ENST00000398761.4_Missense_Mutation_p.K451R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	449				K -> E (in Ref. 1; BAG60593). {ECO:0000305}.	calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										ACCCATGTCTTTGGGCTTTTC	0.493																																						ENST00000398761.4																			0											c.(1351-1353)aAa>aGa		mitochondrial calcium uptake 1							95.0	93.0	94.0					10																	74128038		1943	4140	6083	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74128038T>C	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1346A>G	10.37:g.74128038T>C	ENSP00000354415:p.Lys449Arg					MICU1_ENST00000361114.5_Missense_Mutation_p.K449R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R|MICU1_ENST00000398763.4_Missense_Mutation_p.K251R	p.K451R			Q9BPX6	MICU1_HUMAN			14	1484	-			449					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.1352A>G	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249749	0.80024	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;T;T;T;T	0.80033	-1.32;-1.33;-1.32;0.95;0.95	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	N	0.26130	0.795	0.80722	D	1	B;B;P	0.40515	0.448;0.448;0.719	P;B;B	0.47573	0.55;0.399;0.348	T	0.73805	-0.3867	10	0.20519	T	0.43	.	16.3721	0.83368	0.0:0.0:0.0:1.0	.	251;251;449	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	R	449;451;449;251;251	ENSP00000354415:K449R;ENSP00000381745:K451R;ENSP00000384068:K449R;ENSP00000402470:K251R;ENSP00000381747:K251R	ENSP00000354415:K449R	K	-	2	0	MICU1	73798044	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.013000	0.88655	2.257000	0.74773	0.533000	0.62120	AAA		0.493	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		13	41	0	0	0	0.520397	0	13	41				
SPTBN4	57731	broad.mit.edu	37	19	41007898	41007898	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:41007898C>T	ENST00000352632.3	+	8	941	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SPTBN4_ENST00000338932.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S|SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000344104.3_Silent_p.S285S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	285					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTATTTCTCCAAGATGAAGG	0.537																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(853-855)tcC>tcT		spectrin, beta, non-erythrocytic 4							135.0	133.0	134.0					19																	41007898		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41007898C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.855C>T	19.37:g.41007898C>T						SPTBN4_ENST00000338932.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S|SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000344104.3_Silent_p.S285S	p.S285S			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	941	+			285					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.855C>T	CCDS12559.1																																																																																				0.537	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	128	0	0	0	0.150653	0	4	128				
AMPD2	271	broad.mit.edu	37	1	110171852	110171852	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:110171852G>C	ENST00000256578.3	+	13	2215	c.1855G>C	c.(1855-1857)Gag>Cag	p.E619Q	AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	619					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTCTTCTTAGAGCACGTGAG	0.607																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1855-1857)Gag>Cag		adenosine monophosphate deaminase 2							65.0	66.0	66.0					1																	110171852		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171852G>C	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1855G>C	1.37:g.110171852G>C	ENSP00000256578:p.Glu619Gln					AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000526301.1_3'UTR	p.E619Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	13	2215	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	619					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1855G>C	CCDS805.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	4.695|4.695|4.695	0.129264|0.129264|0.129264	0.08981|0.08981|0.08981	.|.|.	.|.|.	ENSG00000116337|ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840|ENST00000476688	D;D;D;D;D;D|.|.	0.81996|.|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.|.	4.86|4.86|4.86	2.97|2.97|2.97	0.34412|0.34412|0.34412	Adenosine/AMP deaminase (1);|.|.	0.222920|.|.	0.44483|.|.	N|.|.	0.000454|.|.	T|T|.	0.04588|0.04588|.	0.0125|0.0125|.	N|N|N	0.00453|0.00453|0.00453	-1.485|-1.485|-1.485	0.36996|0.36996|0.36996	D|D|D	0.895043|0.895043|0.895043	B;B;B;B|.|.	0.16603|.|.	0.018;0.001;0.003;0.001|.|.	B;B;B;B|.|.	0.16722|.|.	0.016;0.004;0.01;0.006|.|.	T|T|.	0.27502|0.27502|.	-1.0072|-1.0072|.	10|5|.	0.02654|.|.	T|.|.	1|.|.	-23.7547|-23.7547|-23.7547	9.7791|9.7791|9.7791	0.40637|0.40637|0.40637	0.0776:0.1414:0.781:0.0|0.0776:0.1414:0.781:0.0|0.0776:0.1414:0.781:0.0	.|.|.	544;500;619;538|.|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.|.	.;.;AMPD2_HUMAN;.|.|.	Q|T|Y	538;619;619;544;501;500|589|7	ENSP00000345498:E538Q;ENSP00000436541:E619Q;ENSP00000256578:E619Q;ENSP00000351573:E544Q;ENSP00000437164:E501Q;ENSP00000377292:E500Q|.|.	ENSP00000256578:E619Q|.|.	E|R|X	+|+|+	1|2|3	0|0|2	AMPD2|AMPD2|AMPD2	109973375|109973375|109973375	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.079000|0.079000|0.079000	0.17450|0.17450|0.17450	1.368000|1.368000|1.368000	0.34216|0.34216|0.34216	0.633000|0.633000|0.633000	0.30452|0.30452|0.30452	-0.176000|-0.176000|-0.176000	0.13171|0.13171|0.13171	GAG|AGA|TAG		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			3	62	0	0	0	0.150653	0	3	62				
BRD4	23476	broad.mit.edu	37	19	15375515	15375515	+	Missense_Mutation	SNP	G	G	T	rs552649817		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:15375515G>T	ENST00000263377.2	-	6	1133	c.912C>A	c.(910-912)caC>caA	p.H304Q	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000360016.5_Missense_Mutation_p.H304Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	304					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGTGGCTCGTGAATGGGGT	0.622			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(910-912)caC>caA		bromodomain containing 4							67.0	69.0	69.0					19																	15375515		2203	4299	6502	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15375515G>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.912C>A	19.37:g.15375515G>T	ENSP00000263377:p.His304Gln		OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	702	BRD4_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000360016.5_Missense_Mutation_p.H304Q	p.H304Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		6	1133	-			304					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.912C>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019465	0.35606	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.28255	1.62;3.34;3.32	5.45	-5.79	0.02354	.	0.000000	0.64402	D	0.000004	T	0.35219	0.0924	L	0.50919	1.6	0.29262	N	0.871296	D;D;P	0.63046	0.961;0.992;0.849	P;P;B	0.56216	0.579;0.794;0.292	T	0.37957	-0.9683	10	0.21014	T	0.42	-20.4072	16.6862	0.85309	0.3579:0.0:0.6421:0.0	.	304;304;304	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	Q	304	ENSP00000263377:H304Q;ENSP00000360901:H304Q;ENSP00000353112:H304Q	ENSP00000263377:H304Q	H	-	3	2	BRD4	15236515	0.001000	0.12720	0.410000	0.26471	0.928000	0.56348	-0.594000	0.05733	-1.509000	0.01798	-0.251000	0.11542	CAC		0.622	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		4	97	1	0	0.00024832	0.150653	0.000270102	4	97				
SRRD	402055	broad.mit.edu	37	22	26884138	26884138	+	Silent	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr22:26884138T>C	ENST00000215917.7	+	3	408	c.394T>C	c.(394-396)Ttg>Ctg	p.L132L		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	132					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAGAGAGATCTTGGTCACAGG	0.488																																						ENST00000215917.6																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(394-396)Ttg>Ctg		SRR1 domain containing							127.0	126.0	126.0					22																	26884138		2012	4198	6210	SO:0001819	synonymous_variant	402055				rhythmic process			g.chr22:26884138T>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.394T>C	22.37:g.26884138T>C							p.L132L	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN			3	408	+			132					Q6NXP8	Silent	SNP	ENST00000215917.7	37	c.394T>C	CCDS42995.1																																																																																				0.488	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		15	51	0	0	0	0.457914	0	15	51				
ERAP2	64167	broad.mit.edu	37	5	96245318	96245318	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:96245318A>T	ENST00000437043.3	+	15	2915	c.2204A>T	c.(2203-2205)gAc>gTc	p.D735V	ERAP2_ENST00000379904.4_Missense_Mutation_p.D690V|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	735					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CCAGTGATTGACAGGCAAAGC	0.488																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(2203-2205)gAc>gTc		endoplasmic reticulum aminopeptidase 2							118.0	112.0	114.0					5																	96245318		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96245318A>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2204A>T	5.37:g.96245318A>T	ENSP00000400376:p.Asp735Val					ERAP2_ENST00000379904.4_Missense_Mutation_p.D690V|CTD-2260A17.2_ENST00000501338.1_Intron	p.D735V	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	15	2915	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	735					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.2204A>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070201	0.76301	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	T;T	0.05996	3.36;3.36	4.56	4.56	0.56223	.	0.074136	0.52532	D	0.000076	T	0.17365	0.0417	M	0.64170	1.965	0.80722	D	1	D;P	0.53745	0.962;0.799	P;P	0.57283	0.817;0.771	T	0.00316	-1.1823	10	0.56958	D	0.05	.	13.2962	0.60298	1.0:0.0:0.0:0.0	.	690;735	Q6P179-3;Q6P179	.;ERAP2_HUMAN	V	735;690	ENSP00000400376:D735V;ENSP00000369235:D690V	ENSP00000369235:D690V	D	+	2	0	ERAP2	96271074	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	7.490000	0.81461	2.046000	0.60703	0.460000	0.39030	GAC		0.488	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		6	82	0	0	0	0.307466	0	6	82				
MAOA	4128	broad.mit.edu	37	X	43571169	43571169	+	Silent	SNP	T	T	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chrX:43571169T>A	ENST00000338702.3	+	4	480	c.357T>A	c.(355-357)atT>atA	p.I119I	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	119					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GGAATCCCATTGCATATTTGG	0.368																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(355-357)atT>atA		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						150.0	138.0	142.0					X																	43571169		2203	4300	6503	SO:0001819	synonymous_variant	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43571169T>A		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.357T>A	X.37:g.43571169T>A						MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	p.I119I	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN			4	480	+			119					B4DF46|Q16426	Silent	SNP	ENST00000338702.3	37	c.357T>A	CCDS14260.1																																																																																				0.368	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		7	91	0	0	0	0.307466	0	7	91				
NBPF1	55672	broad.mit.edu	37	1	16891388	16891393	+	In_Frame_Del	DEL	CTTCCC	CTTCCC	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:16891388_16891393delCTTCCC	ENST00000430580.2	-	28	3972_3977	c.3085_3090delGGGAAG	c.(3085-3090)gggaagdel	p.GK1029del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.|Poly-Glu.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		cccttcttttcttccccttccccttc	0.432																																						ENST00000430580.2																			0											c.(3085-3090)del		neuroblastoma breakpoint family, member 1																																				SO:0001651	inframe_deletion	55672					cytoplasm		g.chr1:16891388_16891393delCTTCCC	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3085_3090delGGGAAG	1.37:g.16891394_16891399delCTTCCC	ENSP00000474456:p.Gly1029_Lys1030del						p.GK1029del	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	28	3972_3977	-			1026			NBPF 6.|Poly-Glu.		Q8N4E8|Q9C0H0	In_Frame_Del	DEL	ENST00000430580.2	37	c.3085_3090delGGGAAG																																																																																					0.432	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		7	311						7	311	---	---	---	---
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765|rs148686669	byFrequency	TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:72413723_72413724insCTC	ENST00000434423.2	+	11	3191_3192	c.3191_3192insCTC	c.(3190-3195)ttcttc>ttCTCcttc	p.1064_1065FF>FSF	POM121_ENST00000446813.1_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000358357.3_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000257622.4_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000395270.1_In_Frame_Ins_p.799_800FF>FSF			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side. {ECO:0000255}.				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 transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2395-2397)ttt>tCTCtt		POM121 transmembrane nucleoporin																																				SO:0001652	inframe_insertion	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413723_72413724insCTC	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	Exception_encountered	7.37:g.72413723_72413724insCTC	ENSP00000405562:p.Phe1064_Phe1065insSer					POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL|POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL	p.799_799F>SL	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3437_3438	+		Lung NSC(55;0.163)	1064			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	In_Frame_Ins	INS	ENST00000434423.2	37	c.2396_2397insCTC																																																																																					0.663	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			7	52						7	52	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	152012422	152012424	+	Splice_Site	DEL	CAC	CAC	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:152012422_152012424delCAC	ENST00000262189.6	-	4	608_609	c.390_391delGTG	c.(388-393)aggtga>agga	p.*131del	KMT2C_ENST00000355193.2_Splice_Site_p.*131del	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	131					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAGAGCTGTTCACTAGTAAAAAT	0.35																																						ENST00000355193.2																			0											c.e4-1		lysine (K)-specific methyltransferase 2C																																				SO:0001630	splice_region_variant	58508							g.chr7:152012422_152012424delCAC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.390-1GTG>-	7.37:g.152012422_152012424delCAC						KMT2C_ENST00000262189.6_Splice_Site_p.R130_splice	p.R130_splice							4	608_609	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	DEL	ENST00000262189.6	37	c.389_splice	CCDS5931.1																																																																																				0.350	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		In_Frame_Del	8	45						8	45	---	---	---	---
ZRANB1	54764	broad.mit.edu	37	10	126662280	126662281	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:126662280_126662281delAA	ENST00000359653.4	+	4	1594_1595	c.1223_1224delAA	c.(1222-1224)caafs	p.Q408fs		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	408	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AGAGACGTTCAAAAAGGTAAGC	0.337																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1222-1224)cfs		zinc finger, RAN-binding domain containing 1																																				SO:0001589	frameshift_variant	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126662280_126662281delAA	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1223_1224delAA	10.37:g.126662282_126662283delAA	ENSP00000352676:p.Gln408fs						p.Q408fs	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	4	1594_1595	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	408			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Del	DEL	ENST00000359653.4	37	c.1223_1224delAA	CCDS7642.1																																																																																				0.337	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		19	181						19	181	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																						ENST00000341156.4																			1	Deletion - Frameshift(1)	p.G88fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(262-264)gctfs		beta-1,4-N-acetyl-galactosaminyl transferase 1				32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025102_58025103insC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs					B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs	p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	847_848	-	Melanoma(17;0.122)		88					B4DE26|Q8N636	Frame_Shift_Ins	INS	ENST00000341156.4	37	c.263_264insG	CCDS8950.1																																																																																				0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		7	177						7	177	---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113601889	113601891	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:113601889_113601891delCCT	ENST00000306014.5	-	15	1946_1948	c.1919_1921delAGG	c.(1918-1923)gaggcg>gcg	p.E640del	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_In_Frame_Del_p.E640del	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	640	Interaction with nuclear receptors.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ctctctcccgcctcctcctcctc	0.68																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1918-1923)gcg>g		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54			,	23,3979		3,17,1981					,	-0.2	0.0			22	56,7794		7,42,3876	no	coding,coding	DDX54	NM_024072.3,NM_001111322.1	,	10,59,5857	A1A1,A1R,RR		0.7134,0.5747,0.6666	,	,		79,11773				SO:0001651	inframe_deletion	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113601889_113601891delCCT	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1919_1921delAGG	12.37:g.113601898_113601900delCCT	ENSP00000304072:p.Glu640del					DDX54_ENST00000306014.5_In_Frame_Del_p.EA640del	p.EA640del	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			15	1946_1948	-			640			Interaction with nuclear receptors.		Q86YT8|Q9BRZ1	In_Frame_Del	DEL	ENST00000306014.5	37	c.1919_1921delAGG	CCDS31907.1																																																																																				0.680	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		2	4						2	4	---	---	---	---
SNHG24	101929369	broad.mit.edu	37	14	101440108	101440110	+	lincRNA	DEL	TAT	TAT	-	rs143197625|rs373909528	byFrequency	TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:101440108_101440110delTAT	ENST00000554693.2	+	0	384				SNORD114-16_ENST00000363044.1_RNA|SNORD114-17_ENST00000364699.1_RNA|SNORD114-15_ENST00000364687.1_RNA|SNORD114-14_ENST00000362723.1_RNA|SNORD114-19_ENST00000363072.1_RNA|SNORD114-18_ENST00000365272.1_RNA																							ATTTTAGAAATATTATTGTAAAC	0.3														69	0.013778	0.0098	0.0375	5008	,	,		15801	0.0		0.0278	False		,,,				2504	0.002					ENST00000554693.2																			0																																																			0							g.chr14:101440108_101440110delTAT																													14.37:g.101440111_101440113delTAT														0	384	+									RNA	DEL	ENST00000554693.2	37																																																																																						0.300	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			3	3						3	3	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3542649	3542649	+	IGR	DEL	C	C	-	rs79026460	byFrequency	TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr16:3542649delC	ENST00000437192.3	-	0	907				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						CCTTCATCCGCTGCGCCCTCC	0.637																																						ENST00000574423.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:3542649delC		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627		16.37:g.3542649delC														0	111	+									RNA	DEL	ENST00000437192.3	37		CCDS45397.1																																																																																				0.637	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		2	4						2	4	---	---	---	---
U91319.1	0	broad.mit.edu	37	16	13359039	13359039	+	lincRNA	DEL	C	C	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr16:13359039delC	ENST00000571619.1	+	0	178																											ccctcctcttcccactccctc	0.587																																						ENST00000571619.1																			0																																																			0							g.chr16:13359039delC																													16.37:g.13359039delC														0	178	+									RNA	DEL	ENST00000571619.1	37																																																																																						0.587	U91319.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436324.1			3	4						3	4	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20047664	20047664	+	IGR	DEL	C	C	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:20047664delC	ENST00000343769.5	+	0	2648				AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ctcttatataccatgaagagg	0.358																																						ENST00000592245.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:20047664delC	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371		19.37:g.20047664delC														0	72	+								A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	RNA	DEL	ENST00000343769.5	37		CCDS32973.1																																																																																				0.358	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085531	11085533	+	RNA	DEL	AAA	AAA	-	rs376459584		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr21:11085531_11085533delAAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaaaaccacgacca	0.596																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085531_11085533delAAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085531_11085533delAAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.596	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	3						3	3	---	---	---	---
