#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
ETNPPL	64850	broad.mit.edu	37	4	109670416	109670416	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:109670416G>A	ENST00000296486.3	-	8	1059	c.905C>T	c.(904-906)tCt>tTt	p.S302F	ETNPPL_ENST00000512646.1_Missense_Mutation_p.S244F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.S262F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S296F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	302						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TTCCATCCCAGAGCTGCTGAA	0.408																																						ENST00000296486.3																			0											c.(904-906)tCt>tTt		ethanolamine-phosphate phospho-lyase							68.0	67.0	68.0					4																	109670416		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109670416G>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.905C>T	4.37:g.109670416G>A	ENSP00000296486:p.Ser302Phe					ETNPPL_ENST00000510706.1_Missense_Mutation_p.S262F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S296F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.S244F	p.S302F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					8	1059	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.905C>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696920	0.68386	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.32	4.47	0.54385	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.101250	0.64402	D	0.000001	T	0.61362	0.2341	M	0.72118	2.19	0.48395	D	0.999649	P;P;D	0.57257	0.851;0.82;0.979	P;P;P	0.62649	0.738;0.693;0.905	T	0.63825	-0.6549	9	.	.	.	-15.1477	16.2621	0.82552	0.0:0.133:0.867:0.0	.	244;296;302	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	F	302;296;244;262	ENSP00000296486:S302F;ENSP00000392269:S296F;ENSP00000427065:S244F;ENSP00000423240:S262F	.	S	-	2	0	AGXT2L1	109889865	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.551000	0.67274	1.348000	0.45733	-0.181000	0.13052	TCT		0.408	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		20	301	0	0	0	0.069288	0	20	301				
ANK3	288	broad.mit.edu	37	10	61946485	61946485	+	Missense_Mutation	SNP	G	G	C	rs139111941		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:61946485G>C	ENST00000280772.2	-	17	2264	c.2073C>G	c.(2071-2073)aaC>aaG	p.N691K	ANK3_ENST00000373827.2_Missense_Mutation_p.N685K|ANK3_ENST00000503366.1_Missense_Mutation_p.N674K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	691					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATTGCTCAGGTTCACATTCG	0.502																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(2071-2073)aaC>aaG		ankyrin 3, node of Ranvier (ankyrin G)							197.0	143.0	161.0					10																	61946485		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61946485G>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2073C>G	10.37:g.61946485G>C	ENSP00000280772:p.Asn691Lys					ANK3_ENST00000373827.2_Missense_Mutation_p.N685K|ANK3_ENST00000503366.1_Missense_Mutation_p.N674K	p.N691K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			17	2264	-			691					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2073C>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725966	0.69074	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000536348	T;T;T	0.18657	2.2;2.2;2.2	6.17	4.32	0.51571	Ankyrin repeat-containing domain (4);	0.000000	0.46145	D	0.000314	T	0.47728	0.1461	M	0.85197	2.74	0.80722	D	1	P;D;D;D;D	0.89917	0.921;0.999;1.0;0.992;0.999	B;D;D;P;P	0.97110	0.205;0.968;1.0;0.658;0.899	T	0.52837	-0.8522	10	0.72032	D	0.01	.	10.0022	0.41935	0.2962:0.0:0.7038:0.0	.	674;352;235;685;691	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	K	691;685;674;653;352;235	ENSP00000280772:N691K;ENSP00000362933:N685K;ENSP00000425236:N674K	ENSP00000280772:N691K	N	-	3	2	ANK3	61616491	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.484000	0.35508	1.632000	0.50472	0.655000	0.94253	AAC		0.502	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		9	181	0	0	0	0.058154	0	9	181				
KANK2	25959	broad.mit.edu	37	19	11304177	11304177	+	Silent	SNP	C	C	T	rs192902851		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:11304177C>T	ENST00000586659.1	-	4	893	c.579G>A	c.(577-579)gcG>gcA	p.A193A	KANK2_ENST00000355150.5_Silent_p.A193A|KANK2_ENST00000589359.1_Silent_p.A193A|KANK2_ENST00000589894.1_Silent_p.A193A|KANK2_ENST00000432929.2_Silent_p.A193A			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	193					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCAGGGCACCCGCCATCTGCT	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16541	0.0		0.0	False		,,,				2504	0.0					ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(577-579)gcG>gcA		KN motif and ankyrin repeat domains 2							16.0	18.0	18.0					19																	11304177		2115	4124	6239	SO:0001819	synonymous_variant	25959							g.chr19:11304177C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.579G>A	19.37:g.11304177C>T						KANK2_ENST00000586659.1_Silent_p.A193A|KANK2_ENST00000355150.5_Silent_p.A193A|KANK2_ENST00000589894.1_Silent_p.A193A|KANK2_ENST00000589359.1_Silent_p.A193A	p.A193A	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	939	-			193					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.579G>A	CCDS12255.1																																																																																				0.677	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		11	233	0	0	0	0.069234	0	11	233				
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846006A>G																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G														0	3364	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	361	0	0	0	0.021553	0	6	361				
SLC45A4	57210	broad.mit.edu	37	8	142229763	142229763	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:142229763T>C	ENST00000024061.3	-	3	750	c.443A>G	c.(442-444)cAc>cGc	p.H148R	SLC45A4_ENST00000517878.1_Missense_Mutation_p.H199R|SLC45A4_ENST00000433583.2_Missense_Mutation_p.H141R|SLC45A4_ENST00000519067.1_Missense_Mutation_p.H148R	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGAGAAGGCGTGGATGTTGAG	0.667																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(442-444)cAc>cGc		solute carrier family 45, member 4							78.0	51.0	60.0					8																	142229763		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142229763T>C	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.443A>G	8.37:g.142229763T>C	ENSP00000024061:p.His148Arg					SLC45A4_ENST00000517878.1_Missense_Mutation_p.H199R|SLC45A4_ENST00000024061.3_Missense_Mutation_p.H148R|SLC45A4_ENST00000433583.2_Missense_Mutation_p.H141R	p.H148R			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		3	746	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		199					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.443A>G	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601246	0.87055	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.95856	0.8651	M	0.80982	2.52	0.80722	D	1	D;D;B	0.89917	1.0;0.992;0.307	D;D;P	0.97110	1.0;0.971;0.698	D	0.95315	0.8415	10	0.37606	T	0.19	-50.8616	15.5816	0.76448	0.0:0.0:0.0:1.0	.	199;148;148	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	R	148;199;141;148;6	ENSP00000429059:H148R;ENSP00000428137:H199R;ENSP00000400799:H141R;ENSP00000024061:H148R;ENSP00000429033:H6R	ENSP00000024061:H148R	H	-	2	0	SLC45A4	142298945	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.477000	0.81069	2.079000	0.62486	0.460000	0.39030	CAC		0.667	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		28	94	0	0	0	0.134883	0	28	94				
PCDH18	54510	broad.mit.edu	37	4	138442421	138442421	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:138442421G>T	ENST00000344876.4	-	4	3556	c.3170C>A	c.(3169-3171)gCa>gAa	p.A1057E	PCDH18_ENST00000507846.1_Missense_Mutation_p.A836E|PCDH18_ENST00000412923.2_Missense_Mutation_p.A1056E|PCDH18_ENST00000510305.1_Missense_Mutation_p.A268E|PCDH18_ENST00000511115.1_Missense_Mutation_p.A237E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1057	Interaction with DAB1. {ECO:0000250}.				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)					CGTACTGGCTGCCCATGCCGC	0.577																																						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.(3169-3171)gCa>gAa		protocadherin 18							42.0	41.0	42.0					4																	138442421		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442421G>T	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.3170C>A	4.37:g.138442421G>T	ENSP00000355082:p.Ala1057Glu					PCDH18_ENST00000412923.2_Missense_Mutation_p.A1056E|PCDH18_ENST00000511115.1_Missense_Mutation_p.A237E|PCDH18_ENST00000510305.1_Missense_Mutation_p.A268E|PCDH18_ENST00000507846.1_Missense_Mutation_p.A836E	p.A1057E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3556	-	all_hematologic(180;0.24)		1057			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.3170C>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822444	0.71028	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.57107	0.53;0.53;0.42;1.08;1.05	4.94	4.09	0.47781	.	0.000000	0.42964	D	0.000624	T	0.69269	0.3092	M	0.67953	2.075	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.996	T	0.72312	-0.4331	10	0.72032	D	0.01	.	13.204	0.59785	0.0774:0.0:0.9226:0.0	.	237;836;1056;1057	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	E	1057;1056;836;268;237	ENSP00000355082:A1057E;ENSP00000390688:A1056E;ENSP00000425903:A836E;ENSP00000424269:A268E;ENSP00000425647:A237E	ENSP00000355082:A1057E	A	-	2	0	PCDH18	138661871	1.000000	0.71417	0.945000	0.38365	0.954000	0.61252	9.176000	0.94839	1.088000	0.41272	0.586000	0.80456	GCA		0.577	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		6	299	1	0	0.0215528	0.021553	0.0218156	6	299				
SARDH	1757	broad.mit.edu	37	9	136529088	136529088	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:136529088C>G	ENST00000371872.4	-	21	2937	c.2680G>C	c.(2680-2682)Ggg>Cgg	p.G894R	SARDH_ENST00000439388.1_Missense_Mutation_p.G894R|SARDH_ENST00000371868.1_Missense_Mutation_p.G344R|SARDH_ENST00000469828.1_5'Flank|SARDH_ENST00000422262.2_Missense_Mutation_p.G726R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	894					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TAGGTCACCCCCATTCTCTCC	0.577																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(2680-2682)Ggg>Cgg		sarcosine dehydrogenase							148.0	116.0	127.0					9																	136529088		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136529088C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2680G>C	9.37:g.136529088C>G	ENSP00000360938:p.Gly894Arg					SARDH_ENST00000439388.1_Missense_Mutation_p.G894R|SARDH_ENST00000422262.2_Missense_Mutation_p.G726R|SARDH_ENST00000371868.1_Missense_Mutation_p.G344R	p.G894R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	21	2937	-			894					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.2680G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119119	0.77323	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;D;T;T	0.82255	-0.91;-1.59;-0.91;-1.29	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.85542	2.76	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.53518	0.669;0.728	D	0.90708	0.4625	10	0.51188	T	0.08	-36.4626	18.1878	0.89797	0.0:1.0:0.0:0.0	.	894;344	Q9UL12;Q5SYV2	SARDH_HUMAN;.	R	894;344;894;726	ENSP00000360938:G894R;ENSP00000360934:G344R;ENSP00000403084:G894R;ENSP00000415537:G726R	ENSP00000360934:G344R	G	-	1	0	SARDH	135518909	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.779000	0.75057	2.478000	0.83669	0.561000	0.74099	GGG		0.577	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			19	411	0	0	0	0.175082	0	19	411				
ABCG5	64240	broad.mit.edu	37	2	44051560	44051560	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:44051560A>G	ENST00000260645.1	-	8	1055	c.916T>C	c.(916-918)Tca>Cca	p.S306P	ABCG5_ENST00000405322.1_Missense_Mutation_p.S135P|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	306					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GTATCCACTGACGTCAGGTCC	0.393																																						ENST00000405322.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(403-405)Tca>Cca		ATP-binding cassette, sub-family G (WHITE), member 5							108.0	113.0	111.0					2																	44051560		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051560A>G	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.916T>C	2.37:g.44051560A>G	ENSP00000260645:p.Ser306Pro					ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000260645.1_Missense_Mutation_p.S306P	p.S135P			Q9H222	ABCG5_HUMAN			5	1299	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	306			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.403T>C	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625873	0.87560	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	T;T	0.80653	0.39;-1.4	5.75	5.75	0.90469	.	4.144900	0.00424	N	0.000069	D	0.87430	0.6175	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.71510	-0.4571	10	0.72032	D	0.01	.	15.7322	0.77814	1.0:0.0:0.0:0.0	.	135;306	E7EX35;Q9H222	.;ABCG5_HUMAN	P	306;135	ENSP00000260645:S306P;ENSP00000384513:S135P	ENSP00000260645:S306P	S	-	1	0	ABCG5	43905064	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	8.328000	0.90014	2.194000	0.70268	0.533000	0.62120	TCA		0.393	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		67	727	0	0	0	0.139131	0	67	727				
POLG	5428	broad.mit.edu	37	15	89876526	89876526	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:89876526C>T	ENST00000268124.5	-	2	793	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000569473.1_RNA|POLG_ENST00000442287.2_Missense_Mutation_p.A154T|RP11-217B1.2_ENST00000562356.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	154					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGCAAGTTGGCCGCCTCCAGG	0.731								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(460-462)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							10.0	11.0	10.0					15																	89876526		2134	4169	6303	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876526C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.460G>A	15.37:g.89876526C>T	ENSP00000268124:p.Ala154Thr					POLG_ENST00000442287.2_Missense_Mutation_p.A154T	p.A154T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	793	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		154					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.460G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353170	0.82132	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.90620	-2.7;-2.7	4.79	3.85	0.44370	Ribonuclease H-like (1);	0.170724	0.50627	D	0.000102	D	0.94745	0.8304	M	0.80746	2.51	0.54753	D	0.999987	D	0.89917	1.0	D	0.83275	0.996	D	0.93549	0.6885	10	0.31617	T	0.26	-13.4122	14.5144	0.67809	0.0:0.8522:0.1478:0.0	.	154	P54098	DPOG1_HUMAN	T	154	ENSP00000268124:A154T;ENSP00000399851:A154T	ENSP00000268124:A154T	A	-	1	0	POLG	87677530	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.507000	0.81676	0.978000	0.38470	0.561000	0.74099	GCC		0.731	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		3	51	0	0	0	0.115264	0	3	51				
CPPED1	55313	broad.mit.edu	37	16	12875067	12875067	+	Silent	SNP	G	G	A	rs202024707		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:12875067G>A	ENST00000381774.4	-	2	504	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_ENST00000433677.2_Silent_p.C88C|CPPED1_ENST00000261660.4_Silent_p.C88C	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	88	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18749	0.0		0.0	False		,,,				2504	0.0					ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(262-264)tgC>tgT		calcineurin-like phosphoesterase domain containing 1		G	,	1,4135		0,1,2067	90.0	97.0	94.0		264,264	-8.1	0.7	16		94	3,8423		0,3,4210	no	coding-synonymous,coding-synonymous	CPPED1	NM_001099455.1,NM_018340.2	,	0,4,6277	AA,AG,GG		0.0356,0.0242,0.0318	,	88/173,88/315	12875067	4,12558	2068	4213	6281	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12875067G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.264C>T	16.37:g.12875067G>A						CPPED1_ENST00000261660.4_Silent_p.C88C|CPPED1_ENST00000433677.2_Silent_p.C88C	p.C88C	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			2	504	-			88					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.264C>T	CCDS42120.1																																																																																				0.532	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		4	127	0	0	0	0.014758	0	4	127				
DLGAP4	22839	broad.mit.edu	37	20	35060245	35060245	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:35060245G>A	ENST00000373907.2	+	2	324	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DLGAP4_ENST00000373913.3_Missense_Mutation_p.R42H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R42H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R42H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	42					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCTTCGCCCGCGAGGCCCGC	0.697																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(124-126)cGc>cAc		discs, large (Drosophila) homolog-associated protein 4							36.0	39.0	38.0					20																	35060245		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060245G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.125G>A	20.37:g.35060245G>A	ENSP00000363014:p.Arg42His					DLGAP4_ENST00000339266.5_Missense_Mutation_p.R42H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R42H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R42H	p.R42H			Q9Y2H0	DLGP4_HUMAN			3	605	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	42					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.125G>A		.	.	.	.	.	.	.	.	.	.	G	8.687	0.906574	0.17833	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.67	4.73	0.59995	.	0.507297	0.22560	N	0.058475	T	0.31734	0.0806	L	0.44542	1.39	0.22266	N	0.99925	B	0.27971	0.196	B	0.17722	0.019	T	0.16247	-1.0409	10	0.15066	T	0.55	.	5.2335	0.15434	0.0776:0.1326:0.6355:0.1543	.	42	Q9Y2H0-1	.	H	42	ENSP00000363023:R42H;ENSP00000384954:R42H;ENSP00000363014:R42H;ENSP00000341633:R42H	ENSP00000341633:R42H	R	+	2	0	DLGAP4	34493659	0.743000	0.28239	0.642000	0.29436	0.421000	0.31385	1.615000	0.36922	1.418000	0.47098	-0.215000	0.12644	CGC		0.697	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		52	330	0	0	0	0.139131	0	52	330				
AGBL5	60509	broad.mit.edu	37	2	27276415	27276415	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27276415C>T	ENST00000360131.4	+	3	520	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	AGBL5_ENST00000323064.8_Missense_Mutation_p.R121C|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	121					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCTGGGAACGCATTCGAGA	0.502																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(361-363)Cgc>Tgc		ATP/GTP binding protein-like 5							60.0	61.0	61.0					2																	27276415		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276415C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.361C>T	2.37:g.27276415C>T	ENSP00000353249:p.Arg121Cys					AGBL5_ENST00000323064.8_Missense_Mutation_p.R121C	p.R121C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			3	520	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		121					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.361C>T	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284024	0.80803	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.25250	1.81;1.81	5.67	5.67	0.87782	.	0.044935	0.85682	D	0.000000	T	0.64832	0.2634	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75042	-0.3457	10	0.87932	D	0	-5.2161	18.5343	0.91004	0.0:1.0:0.0:0.0	.	121;121;121	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	C	121	ENSP00000323681:R121C;ENSP00000353249:R121C	ENSP00000323681:R121C	R	+	1	0	AGBL5	27129919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.413000	0.59795	2.666000	0.90696	0.561000	0.74099	CGC		0.502	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		39	374	0	0	0	0.086207	0	39	374				
PCSK4	54760	broad.mit.edu	37	19	1487059	1487059	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:1487059G>A	ENST00000300954.5	-	8	922	c.861C>T	c.(859-861)cgC>cgT	p.R287R	PCSK4_ENST00000587784.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCCGCCGCGGCCCTGGG	0.697																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(859-861)cgC>cgT		proprotein convertase subtilisin/kexin type 4							28.0	29.0	29.0					19																	1487059		2199	4296	6495	SO:0001819	synonymous_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1487059G>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.861C>T	19.37:g.1487059G>A							p.R287R	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	922	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	287			Catalytic (By similarity).			Silent	SNP	ENST00000300954.5	37	c.861C>T	CCDS12069.2																																																																																				0.697	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		19	226	0	0	0	0.062417	0	19	226				
OSBPL10	114884	broad.mit.edu	37	3	31725318	31725318	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:31725318G>A	ENST00000396556.2	-	8	1656	c.1534C>T	c.(1534-1536)Cac>Tac	p.H512Y	OSBPL10_ENST00000438237.2_Missense_Mutation_p.H448Y	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	512					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGGTGTTCGTGACAGCTGGCA	0.537																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1534-1536)Cac>Tac		oxysterol binding protein-like 10							142.0	126.0	131.0					3																	31725318		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31725318G>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1534C>T	3.37:g.31725318G>A	ENSP00000379804:p.His512Tyr					OSBPL10_ENST00000438237.2_Missense_Mutation_p.H448Y	p.H512Y	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	8	1656	-			512					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.1534C>T	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	5.951	0.359514	0.11239	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.22336	1.96;2.28	5.68	3.72	0.42706	.	1.818630	0.01854	N	0.036130	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	P;B;B	0.43857	0.819;0.165;0.04	B;B;B	0.41510	0.359;0.075;0.233	T	0.42032	-0.9475	10	0.49607	T	0.09	-2.2597	12.1469	0.54028	0.0:0.4069:0.5931:0.0	.	448;512;280	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	Y	512;448	ENSP00000379804:H512Y;ENSP00000406124:H448Y	ENSP00000379804:H512Y	H	-	1	0	OSBPL10	31700322	0.015000	0.18098	0.005000	0.12908	0.002000	0.02628	1.856000	0.39389	1.514000	0.48869	0.591000	0.81541	CAC		0.537	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			45	539	0	0	0	0.139131	0	45	539				
NOS1	4842	broad.mit.edu	37	12	117768312	117768312	+	Missense_Mutation	SNP	G	G	A	rs374847966	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:117768312G>A	ENST00000338101.4	-	1	567	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.A188V|NOS1_ENST00000317775.6_Missense_Mutation_p.A188V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGCTTTCTTCGCGGGGTCCTG	0.632													G|||	4	0.000798722	0.0	0.0	5008	,	,		16394	0.0		0.0	False		,,,				2504	0.0041				Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(562-564)gCg>gTg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)	G	VAL/ALA,VAL/ALA	2,3990		0,2,1994	81.0	88.0	85.0		563,563	0.7	0.0	12		85	0,8350		0,0,4175	no	missense,missense	NOS1	NM_000620.4,NM_001204218.1	64,64	0,2,6169	AA,AG,GG		0.0,0.0501,0.0162	benign,benign	188/1435,188/1469	117768312	2,12340	1996	4175	6171	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768312G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.563C>T	12.37:g.117768312G>A	ENSP00000337459:p.Ala188Val					NOS1_ENST00000338101.4_Missense_Mutation_p.A188V|NOS1_ENST00000344089.3_Missense_Mutation_p.A188V	p.A188V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1248	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		188			Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.			Missense_Mutation	SNP	ENST00000338101.4	37	c.563C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391357	0.25118	5.01E-4	0.0	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.05717	4.97;3.4;4.97	4.74	0.685	0.18009	.	1.602270	0.03266	N	0.184023	T	0.04363	0.0120	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.12103	T	0.63	-10.0904	3.9763	0.09476	0.2403:0.0:0.3261:0.4336	.	188	P29475	NOS1_HUMAN	V	188	ENSP00000320758:A188V;ENSP00000339862:A188V;ENSP00000337459:A188V	ENSP00000320758:A188V	A	-	2	0	NOS1	116252695	0.000000	0.05858	0.011000	0.14972	0.032000	0.12392	0.306000	0.19279	-0.047000	0.13423	-0.263000	0.10527	GCG		0.632	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			31	775	0	0	0	0.134883	0	31	775				
NUP54	53371	broad.mit.edu	37	4	77065403	77065403	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:77065403G>C	ENST00000264883.3	-	3	334	c.194C>G	c.(193-195)aCt>aGt	p.T65S	NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	65	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				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 targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						GCCAAAACCAGTACCAAATCC	0.393																																						ENST00000264883.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(193-195)aCt>aGt		nucleoporin 54kDa							259.0	265.0	263.0					4																	77065403		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77065403G>C	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.194C>G	4.37:g.77065403G>C	ENSP00000264883:p.Thr65Ser					NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000514987.1_Intron|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR	p.T65S	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			3	334	-			65			9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.194C>G	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887677	0.33348	.	.	ENSG00000138750	ENST00000264883;ENST00000514901	.	.	.	6.06	6.06	0.98353	.	0.199124	0.53938	D	0.000051	T	0.41050	0.1142	N	0.12920	0.275	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.41251	-0.9519	9	0.02654	T	1	-20.5498	20.6282	0.99521	0.0:0.0:1.0:0.0	.	65	Q7Z3B4	NUP54_HUMAN	S	65;119	.	ENSP00000264883:T65S	T	-	2	0	NUP54	77284427	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.152000	0.94680	2.871000	0.98454	0.655000	0.94253	ACT		0.393	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			202	1444	0	0	0	0.139131	0	202	1444				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		11	88	0	0	0	0.119110	0	11	88				
PRAMEF11	440560	broad.mit.edu	37	1	12887547	12887547	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:12887547G>A	ENST00000535591.1	-	3	505	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	104					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R104W(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AAGGGCTGCCGTTCTCTCATC	0.498																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.R104W(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(310-312)Cgg>Tgg		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887547G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.310C>T	1.37:g.12887547G>A	ENSP00000439551:p.Arg104Trp						p.R104W	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	505	-			104						Missense_Mutation	SNP	ENST00000535591.1	37	c.310C>T	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	6.330	0.429024	0.11987	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.15603	2.41;2.41	1.48	-0.964	0.10326	.	1.741890	0.03491	N	0.216651	T	0.11495	0.0280	L	0.51422	1.61	0.09310	N	1	P	0.39282	0.666	B	0.23150	0.044	T	0.24404	-1.0161	10	0.37606	T	0.19	.	2.2748	0.04100	0.2046:0.0:0.5036:0.2918	.	104	O60813	PRA11_HUMAN	W	104;145;104	ENSP00000439551:R104W;ENSP00000391839:R104W	ENSP00000328783:R145W	R	-	1	2	PRAMEF11	12810134	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.447000	0.06828	-0.254000	0.09500	0.400000	0.26472	CGG		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		170	1019	0	0	0	0.139131	0	170	1019				
CNTNAP2	26047	broad.mit.edu	37	7	147914427	147914427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:147914427C>T	ENST00000361727.3	+	19	3574	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*	CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.Q79*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1020					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATATAACTTTCAGGCACCAGC	0.493										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3058-3060)Cag>Tag		contactin associated protein-like 2							118.0	119.0	118.0					7																	147914427		2203	4300	6503	SO:0001587	stop_gained	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914427C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3058C>T	7.37:g.147914427C>T	ENSP00000354778:p.Gln1020*	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.Q79*	p.Q1020*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3574	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1020					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.3058C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	39	7.789081	0.98489	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	.	.	.	5.25	5.25	0.73442	.	0.244530	0.35772	N	0.003000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.4392	0.87561	0.0:1.0:0.0:0.0	.	.	.	.	X	1020;79	.	ENSP00000354778:Q1020X	Q	+	1	0	CNTNAP2	147545360	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	2.999000	0.49473	2.438000	0.82558	0.561000	0.74099	CAG		0.493	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			15	606	0	0	0	0.119110	0	15	606				
ADAMTS5	11096	broad.mit.edu	37	21	28337977	28337977	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:28337977G>A	ENST00000284987.5	-	1	855	c.734C>T	c.(733-735)tCg>tTg	p.S245L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	245					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCAGCGGGCGAGAGAGCGGA	0.741																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(733-735)tCg>tTg		ADAM metallopeptidase with thrombospondin type 1 motif, 5							7.0	9.0	8.0					21																	28337977		2171	4222	6393	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28337977G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.734C>T	21.37:g.28337977G>A	ENSP00000284987:p.Ser245Leu						p.S245L	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			1	855	-			245					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.734C>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	5.656	0.305616	0.10678	.	.	ENSG00000154736	ENST00000284987	T	0.63417	-0.04	3.55	3.55	0.40652	.	0.833438	0.10427	N	0.675986	T	0.41373	0.1156	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.18561	0.022	T	0.07501	-1.0769	10	0.16420	T	0.52	.	13.4492	0.61161	0.0:0.0:1.0:0.0	.	245	Q9UNA0	ATS5_HUMAN	L	245	ENSP00000284987:S245L	ENSP00000284987:S245L	S	-	2	0	ADAMTS5	27259848	0.998000	0.40836	0.008000	0.14137	0.058000	0.15608	3.406000	0.52637	2.268000	0.75426	0.561000	0.74099	TCG		0.741	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			7	43	0	0	0	0.038147	0	7	43				
ZKSCAN4	387032	broad.mit.edu	37	6	28213219	28213219	+	Missense_Mutation	SNP	C	C	T	rs184936839	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:28213219C>T	ENST00000377294.2	-	5	1556	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G283D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	438					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AAAGGCTTTGCCACACATATT	0.483													C|||	2	0.000399361	0.0	0.0	5008	,	,		20912	0.002		0.0	False		,,,				2504	0.0					ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1312-1314)gGc>gAc		zinc finger with KRAB and SCAN domains 4							94.0	94.0	94.0					6																	28213219		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213219C>T	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1313G>A	6.37:g.28213219C>T	ENSP00000366509:p.Gly438Asp					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G283D	p.G438D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1556	-			438					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1313G>A	CCDS4647.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	19.90	3.913083	0.72983	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.34472	1.36;1.36	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51075	0.1653	M	0.62088	1.915	0.37173	D	0.903136	D	0.67145	0.996	D	0.66716	0.946	T	0.53975	-0.8362	9	0.87932	D	0	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	438	Q969J2	ZKSC4_HUMAN	D	438;283;144;314	ENSP00000366509:G438D;ENSP00000401978:G283D	ENSP00000349249:G314D	G	-	2	0	ZKSCAN4	28321198	0.021000	0.18746	1.000000	0.80357	0.696000	0.40369	1.901000	0.39838	2.740000	0.93945	0.655000	0.94253	GGC		0.483	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		7	606	0	0	0	0.029380	0	7	606				
EP400	57634	broad.mit.edu	37	12	132466743	132466743	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:132466743T>C	ENST00000333577.4	+	6	1866	c.1757T>C	c.(1756-1758)tTg>tCg	p.L586S	EP400_ENST00000389562.2_Missense_Mutation_p.L549S|EP400_ENST00000332482.4_Missense_Mutation_p.L513S|EP400_ENST00000330386.6_Missense_Mutation_p.L550S|EP400_ENST00000389561.2_Missense_Mutation_p.L550S			Q96L91	EP400_HUMAN	E1A binding protein p400	586					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGCCAGCTTGCACACCCCA	0.697																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1756-1758)tTg>tCg		E1A binding protein p400							44.0	53.0	50.0					12																	132466743		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466743T>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1757T>C	12.37:g.132466743T>C	ENSP00000333602:p.Leu586Ser					EP400_ENST00000389562.2_Missense_Mutation_p.L549S|EP400_ENST00000330386.6_Missense_Mutation_p.L550S|EP400_ENST00000389561.2_Missense_Mutation_p.L550S|EP400_ENST00000332482.4_Missense_Mutation_p.L513S	p.L586S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1866	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	586					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.1757T>C		.	.	.	.	.	.	.	.	.	.	T	14.15	2.449734	0.43531	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.93811	-3.29;-3.02;-2.99;-2.73;-2.96	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.96093	0.8727	M	0.67953	2.075	0.35443	D	0.79507	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.99505	1.0954	10	0.59425	D	0.04	.	15.8317	0.78757	0.0:0.0:0.0:1.0	.	550;550;549;586;513	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	S	513;586;550;549;513;550;586;550;550	ENSP00000333602:L586S;ENSP00000374212:L550S;ENSP00000374213:L549S;ENSP00000331737:L513S;ENSP00000330620:L550S	ENSP00000330620:L550S	L	+	2	0	EP400	131032696	1.000000	0.71417	0.988000	0.46212	0.650000	0.38633	7.551000	0.82182	2.136000	0.66102	0.533000	0.62120	TTG		0.697	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		48	632	0	0	0	0.139131	0	48	632				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		6	58	1	0	0.00116845	0.021553	0.00121226	6	58				
XXYLT1	152002	broad.mit.edu	37	3	194790812	194790812	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:194790812T>C	ENST00000310380.6	-	4	922	c.814A>G	c.(814-816)Aac>Gac	p.N272D	XXYLT1_ENST00000429994.1_Missense_Mutation_p.N126D|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.N69D|XXYLT1_ENST00000355729.4_Missense_Mutation_p.N69D|XXYLT1_ENST00000356740.5_Missense_Mutation_p.N66D	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	272						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GTCTGGGGGTTCTCATGGCGG	0.672																																						ENST00000310380.6																			0											c.(814-816)Aac>Gac		xyloside xylosyltransferase 1							20.0	25.0	23.0					3																	194790812		1830	3951	5781	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790812T>C	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.814A>G	3.37:g.194790812T>C	ENSP00000309640:p.Asn272Asp					XXYLT1_ENST00000356740.5_Missense_Mutation_p.N66D|XXYLT1_ENST00000429994.1_Missense_Mutation_p.N126D|XXYLT1_ENST00000355729.4_Missense_Mutation_p.N69D|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.N69D	p.N272D	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	922	-			272					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.814A>G	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686374	0.88639	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.72479	2.2	0.58432	D	0.999997	D;P;D	0.76494	0.969;0.921;0.999	P;P;P	0.60789	0.795;0.545;0.879	T	0.63699	-0.6578	10	0.56958	D	0.05	-13.015	15.3136	0.74056	0.0:0.0:0.0:1.0	.	272;69;66	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	D	272;69;69;126;66	ENSP00000309640:N272D;ENSP00000409865:N69D;ENSP00000347967:N69D;ENSP00000399422:N126D;ENSP00000349179:N66D	ENSP00000309640:N272D	N	-	1	0	C3orf21	196272101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.927000	0.63440	2.219000	0.72066	0.460000	0.39030	AAC		0.672	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		18	302	0	0	0	0.043863	0	18	302				
LRCH3	84859	broad.mit.edu	37	3	197562601	197562601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:197562601G>T	ENST00000425562.2	+	9	1159	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	LRCH3_ENST00000438796.2_Nonsense_Mutation_p.E387*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.E387*|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.E387*|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.E261*			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	387	Poly-Glu.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGAGGAAGAGGAGGCCGAGGT	0.507																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1159-1161)Gag>Tag		leucine-rich repeats and calponin homology (CH) domain containing 3							146.0	127.0	133.0					3																	197562601		2203	4300	6503	SO:0001587	stop_gained	84859					extracellular region		g.chr3:197562601G>T	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1159G>T	3.37:g.197562601G>T	ENSP00000393579:p.Glu387*					LRCH3_ENST00000334859.4_Nonsense_Mutation_p.E387*|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.E387*|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.E261*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.E387*	p.E387*			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	9	1203	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		387			Poly-Glu.		B4E0T7|Q96FP9|Q9NT52	Nonsense_Mutation	SNP	ENST00000425562.2	37	c.1159G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.754857	0.98471	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-9.2774	19.6242	0.95671	0.0:0.0:1.0:0.0	.	.	.	.	X	387;261;387;387;387	.	ENSP00000334375:E387X	E	+	1	0	LRCH3	199046998	1.000000	0.71417	0.766000	0.31476	0.854000	0.48673	8.533000	0.90617	2.711000	0.92665	0.644000	0.83932	GAG		0.507	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		37	296	1	0	9.80977e-26	0.069456	1.07842e-25	37	296				
MMRN2	79812	broad.mit.edu	37	10	88702296	88702296	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:88702296G>A	ENST00000372027.5	-	6	2566	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	749					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGGAAGAGCCGCTGGTGCTGC	0.652																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(2245-2247)Cgg>Tgg		multimerin 2							61.0	61.0	61.0					10																	88702296		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88702296G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2245C>T	10.37:g.88702296G>A	ENSP00000361097:p.Arg749Trp						p.R749W	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	2318	-			749					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.2245C>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	9.376	1.071749	0.20147	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.15603	2.41	5.48	2.46	0.29980	.	0.716735	0.13102	N	0.413666	T	0.18215	0.0437	L	0.50333	1.59	0.09310	N	1	D;D;D	0.63880	0.991;0.978;0.993	B;B;B	0.44315	0.446;0.328;0.405	T	0.09975	-1.0650	10	0.66056	D	0.02	-8.1891	8.627	0.33895	0.0:0.2566:0.3489:0.3945	.	527;688;749	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	W	749;527	ENSP00000361097:R749W	ENSP00000361097:R749W	R	-	1	2	MMRN2	88692276	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	0.175000	0.16762	0.212000	0.20703	0.455000	0.32223	CGG		0.652	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		13	414	0	0	0	0.119110	0	13	414				
SDPR	8436	broad.mit.edu	37	2	192701269	192701269	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:192701269C>T	ENST00000304141.4	-	2	987	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			ACCTTTTCCTCGGCACTGTCT	0.493																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(658-660)Gag>Aag		serum deprivation response	Phosphatidylserine(DB00144)						112.0	117.0	116.0					2																	192701269		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701269C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.658G>A	2.37:g.192701269C>T	ENSP00000305675:p.Glu220Lys						p.E220K	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	987	-			220						Missense_Mutation	SNP	ENST00000304141.4	37	c.658G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018931	0.35606	.	.	ENSG00000168497	ENST00000304141	T	0.60672	0.17	5.16	5.16	0.70880	.	0.056580	0.64402	D	0.000001	T	0.56046	0.1959	M	0.74881	2.28	0.48341	D	0.999638	P	0.40250	0.709	B	0.27887	0.084	T	0.66791	-0.5834	10	0.66056	D	0.02	-11.3916	18.8456	0.92205	0.0:1.0:0.0:0.0	.	220	O95810	SDPR_HUMAN	K	220	ENSP00000305675:E220K	ENSP00000305675:E220K	E	-	1	0	SDPR	192409514	0.429000	0.25530	0.102000	0.21198	0.015000	0.08874	1.282000	0.33226	2.698000	0.92095	0.563000	0.77884	GAG		0.493	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		60	741	0	0	0	0.139131	0	60	741				
ZNF799	90576	broad.mit.edu	37	19	12502559	12502559	+	Missense_Mutation	SNP	G	G	A	rs374091845		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:12502559G>A	ENST00000430385.3	-	4	853	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.T186M	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCCAGTGTGCGTTCTCTCATG	0.403																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(556-558)aCg>aTg		zinc finger protein 799		A	MET/THR	2,4402	4.2+/-10.8	0,2,2200	108.0	111.0	110.0		653	-1.6	0.0	19		110	0,8596		0,0,4298	no	missense	ZNF799	NM_001080821.2	81	0,2,6498	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	218/644	12502559	2,12998	2202	4298	6500	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502559G>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.653C>T	19.37:g.12502559G>A	ENSP00000411084:p.Thr218Met					ZNF799_ENST00000430385.3_Missense_Mutation_p.T218M|CTD-3105H18.14_ENST00000435033.1_Intron	p.T186M			Q96GE5	ZN799_HUMAN			4	1306	-			218						Missense_Mutation	SNP	ENST00000430385.3	37	c.557C>T	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	g	9.020	0.984583	0.18889	4.54E-4	0.0	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.13089	2.62;2.62	1.1	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14356	0.0347	M	0.77103	2.36	0.09310	N	1	P	0.44521	0.837	B	0.39738	0.308	T	0.11842	-1.0571	9	0.54805	T	0.06	.	3.2494	0.06808	0.1831:0.0:0.567:0.2499	.	218	Q96GE5	ZN799_HUMAN	M	186;218	ENSP00000415278:T186M;ENSP00000411084:T218M	ENSP00000415278:T186M	T	-	2	0	ZNF799	12363559	0.000000	0.05858	0.001000	0.08648	0.128000	0.20619	-0.947000	0.03901	-0.419000	0.07439	-1.051000	0.02340	ACG		0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		94	682	0	0	0	0.139131	0	94	682				
ASB16	92591	broad.mit.edu	37	17	42255678	42255678	+	Missense_Mutation	SNP	C	C	T	rs75035743	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:42255678C>T	ENST00000293414.1	+	5	1366	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	428	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAGCCGCTGCCGGCAGGGTGC	0.677													C|||	2	0.000399361	0.0	0.0	5008	,	,		14825	0.0		0.002	False		,,,				2504	0.0					ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(1282-1284)Cgg>Tgg		ankyrin repeat and SOCS box containing 16		C	TRP/ARG,	2,4394		0,2,2196	22.0	22.0	22.0		1282,	5.4	1.0	17	dbSNP_131	22	14,8572		0,14,4279	no	missense,intron	ASB16,C17orf65	NM_080863.4,NM_178542.3	101,	0,16,6475	TT,TC,CC		0.1631,0.0455,0.1232	probably-damaging,	428/454,	42255678	16,12966	2198	4293	6491	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42255678C>T	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1282C>T	17.37:g.42255678C>T	ENSP00000293414:p.Arg428Trp					ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	p.R428W	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	1366	+		Breast(137;0.00765)|Prostate(33;0.0313)	428			SOCS box.		B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.1282C>T	CCDS11478.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.53	3.150073	0.57151	4.55E-4	0.001631	ENSG00000161664	ENST00000293414	T	0.42513	0.97	5.36	5.36	0.76844	SOCS protein, C-terminal (3);	0.611234	0.16143	N	0.227657	T	0.52917	0.1764	L	0.38175	1.15	0.35488	D	0.798742	D	0.76494	0.999	P	0.60609	0.877	T	0.55724	-0.8096	10	0.37606	T	0.19	-22.8101	18.0318	0.89286	0.0:1.0:0.0:0.0	.	428	Q96NS5	ASB16_HUMAN	W	428	ENSP00000293414:R428W	ENSP00000293414:R428W	R	+	1	2	ASB16	39611204	0.973000	0.33851	0.988000	0.46212	0.637000	0.38172	2.655000	0.46707	2.793000	0.96121	0.561000	0.74099	CGG		0.677	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			7	131	0	0	0	0.038147	0	7	131				
PRDM7	11105	broad.mit.edu	37	16	90160812	90160812	+	5'Flank	SNP	C	C	T	rs8050190	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:90160812C>T	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ACGGGGACAGCCACCTGCCGC	0.706													.|||	619	0.123602	0.4107	0.0476	5008	,	,		7905	0.001		0.0189	False		,,,				2504	0.0235					ENST00000567960.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90160812C>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160812C>T	Exception_encountered					TUBB8P7_ENST00000564451.1_RNA								0	120	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.706	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			3	37	0	0	0	0.029380	0	3	37				
PDE1C	5137	broad.mit.edu	37	7	31890287	31890287	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:31890287G>A	ENST00000396191.1	-	8	1274	c.819C>T	c.(817-819)acC>acT	p.T273T	PDE1C_ENST00000396184.3_Silent_p.T273T|PDE1C_ENST00000321453.7_Silent_p.T273T|PDE1C_ENST00000396193.1_Silent_p.T333T|PDE1C_ENST00000396182.2_Silent_p.T273T	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	273	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.T273T(2)|p.T333T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGGTGGTTCCGGTATGCTCGT	0.448																																						ENST00000396184.3																			3	Substitution - coding silent(3)	p.T273T(2)|p.T333T(1)	lung(3)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(817-819)acC>acT		phosphodiesterase 1C, calmodulin-dependent 70kDa							206.0	182.0	190.0					7																	31890287		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31890287G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.819C>T	7.37:g.31890287G>A						PDE1C_ENST00000321453.7_Silent_p.T273T|PDE1C_ENST00000396193.1_Silent_p.T333T|PDE1C_ENST00000396191.1_Silent_p.T273T|PDE1C_ENST00000396182.2_Silent_p.T273T	p.T273T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		9	1023	-			273			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.819C>T	CCDS55099.1																																																																																				0.448	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			58	519	0	0	0	0.139131	0	58	519				
PRDM15	63977	broad.mit.edu	37	21	43256271	43256271	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:43256271C>T	ENST00000269844.3	-	17	2437	c.2327G>A	c.(2326-2328)cGc>cAc	p.R776H	PRDM15_ENST00000422911.1_Missense_Mutation_p.R447H|PRDM15_ENST00000447207.2_Missense_Mutation_p.R410H|PRDM15_ENST00000398548.1_Missense_Mutation_p.R447H|PRDM15_ENST00000538201.1_Missense_Mutation_p.R410H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCTCTCTTTGCGGCTGAACAA	0.493																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(1339-1341)cGc>cAc		PR domain containing 15							263.0	198.0	220.0					21																	43256271		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43256271C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2327G>A	21.37:g.43256271C>T	ENSP00000269844:p.Arg776His					PRDM15_ENST00000538201.1_Missense_Mutation_p.R410H|PRDM15_ENST00000398548.1_Missense_Mutation_p.R447H|PRDM15_ENST00000447207.2_Missense_Mutation_p.R410H|PRDM15_ENST00000269844.3_Missense_Mutation_p.R776H	p.R447H			P57071	PRD15_HUMAN			10	1441	-			776			SET.		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.1340G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	33	5.222290	0.95139	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;1.57	4.66	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85225	0.5648	L	0.54965	1.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.85463	0.1168	9	0.45353	T	0.12	-28.2378	16.557	0.84487	0.0:1.0:0.0:0.0	.	776;447;447	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	H	447;447;410;410;776;410	ENSP00000408592:R447H;ENSP00000381556:R447H;ENSP00000444044:R410H;ENSP00000390245:R410H;ENSP00000269844:R776H	ENSP00000269844:R776H	R	-	2	0	PRDM15	42129340	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.554000	0.82212	2.139000	0.66308	0.651000	0.88453	CGC		0.493	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		5	222	0	0	0	0.014758	0	5	222				
AMPD1	270	broad.mit.edu	37	1	115222920	115222920	+	Missense_Mutation	SNP	C	C	T	rs587779379		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:115222920C>T	ENST00000520113.2	-	6	841	c.826G>A	c.(826-828)Gat>Aat	p.D276N	AMPD1_ENST00000369538.3_Missense_Mutation_p.D272N|AMPD1_ENST00000353928.6_Missense_Mutation_p.D243N			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	276					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAATTCATATCGTCTAAGAAG	0.393																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(814-816)Gat>Aat		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						178.0	164.0	168.0					1																	115222920		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222920C>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.826G>A	1.37:g.115222920C>T	ENSP00000430075:p.Asp276Asn					AMPD1_ENST00000520113.2_Missense_Mutation_p.D276N|AMPD1_ENST00000353928.6_Missense_Mutation_p.D243N	p.D272N	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	861	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	243					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.814G>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	35	5.574521	0.96553	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.93189	-3.18;-3.18;-3.18	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97114	0.9057	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.87578	0.998;0.655	D	0.96505	0.9374	10	0.62326	D	0.03	-26.2208	20.6525	0.99598	0.0:1.0:0.0:0.0	.	272;243	Q5TF02;P23109	.;AMPD1_HUMAN	N	276;272;243	ENSP00000430075:D276N;ENSP00000358551:D272N;ENSP00000316520:D243N	ENSP00000316520:D243N	D	-	1	0	AMPD1	115024443	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.649000	0.83500	2.890000	0.99128	0.585000	0.79938	GAT		0.393	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			14	535	0	0	0	0.175082	0	14	535				
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	lincRNA	SNP	T	T	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468																																						ENST00000423249.1																			0																																																			0							g.chr1:143403554T>G																													1.37:g.143403554T>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.468	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			3	51	0	0	0	0.014758	0	3	51				
OBSCN	84033	broad.mit.edu	37	1	228467882	228467882	+	Missense_Mutation	SNP	C	C	T	rs566340039		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:228467882C>T	ENST00000422127.1	+	29	7710	c.7666C>T	c.(7666-7668)Cgg>Tgg	p.R2556W	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R2985W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1403W|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2556W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2556	Ig-like 24.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTTGCAGCGCGGGAGGTGAC	0.642													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17478	0.0		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8953-8955)Cgg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							45.0	52.0	49.0					1																	228467882		2146	4243	6389	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228467882C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7666C>T	1.37:g.228467882C>T	ENSP00000409493:p.Arg2556Trp					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2556W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2556W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1403W	p.R2985W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			34	9027	+		Prostate(94;0.0405)	1986			Ig-like 29.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8953C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	15.14	2.745370	0.49151	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.44482	0.92;0.92;0.92	5.35	4.41	0.53225	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.70413	0.3221	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.981;0.998;1.0	T	0.77713	-0.2485	10	0.62326	D	0.03	.	15.2306	0.73383	0.1417:0.8583:0.0:0.0	.	2556;2556;2556	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	W	2556;2556;1403;255	ENSP00000284548:R2556W;ENSP00000409493:R2556W;ENSP00000352613:R1403W	ENSP00000284548:R2556W	R	+	1	2	OBSCN	226534505	0.997000	0.39634	0.755000	0.31263	0.332000	0.28634	3.708000	0.54845	1.211000	0.43351	0.550000	0.68814	CGG		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	331	0	0	0	0.144211	0	26	331				
DOLPP1	57171	broad.mit.edu	37	9	131849065	131849065	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:131849065G>A	ENST00000372546.4	+	7	700	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DOLPP1_ENST00000540102.1_Missense_Mutation_p.R82Q|DOLPP1_ENST00000406974.3_Missense_Mutation_p.R180Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	223					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ACGGTAACCCGGGCAGAAGCC	0.597																																						ENST00000372546.4																			0				endometrium(3)|kidney(2)|lung(7)|skin(1)	13						c.(667-669)cGg>cAg		dolichyldiphosphatase 1							87.0	79.0	81.0					9																	131849065		2203	4300	6503	SO:0001583	missense	57171				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	g.chr9:131849065G>A	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.668G>A	9.37:g.131849065G>A	ENSP00000361625:p.Arg223Gln					DOLPP1_ENST00000540102.1_Missense_Mutation_p.R82Q|DOLPP1_ENST00000406974.3_Missense_Mutation_p.R180Q	p.R223Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN			7	700	+			223					A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	c.668G>A	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	G	37	5.982410	0.97173	.	.	ENSG00000167130	ENST00000372546;ENST00000406974;ENST00000540102	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.973	D;B	0.64237	0.923;0.352	T	0.79050	-0.1962	9	0.42905	T	0.14	-16.5821	18.7508	0.91814	0.0:0.0:1.0:0.0	.	180;223	B0QZG4;Q86YN1	.;DOPP1_HUMAN	Q	223;180;82	.	ENSP00000361625:R223Q	R	+	2	0	DOLPP1	130888886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.436000	0.97532	2.673000	0.90976	0.555000	0.69702	CGG		0.597	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		11	414	0	0	0	0.093190	0	11	414				
TTN	7273	broad.mit.edu	37	2	179569435	179569435	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:179569435C>T	ENST00000591111.1	-	103	29037	c.28813G>A	c.(28813-28815)Gac>Aac	p.D9605N	TTN_ENST00000589042.1_Missense_Mutation_p.D9922N|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8678N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13681					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTAATGTCAATTTCAAAG	0.333																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29764-29766)Gac>Aac		titin							44.0	40.0	41.0					2																	179569435		1808	4072	5880	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569435C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28813G>A	2.37:g.179569435C>T	ENSP00000465570:p.Asp9605Asn					TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8678N|TTN_ENST00000591111.1_Missense_Mutation_p.D9605N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.D9922N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		105	29988	-			9605			Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29764G>A		.	.	.	.	.	.	.	.	.	.	C	18.69	3.677742	0.68042	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55016	0.1894	N	0.12182	0.205	0.80722	D	1	P	0.36354	0.549	B	0.37198	0.243	T	0.61481	-0.7054	9	0.87932	D	0	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	9605	Q8WZ42	TITIN_HUMAN	N	8678	ENSP00000343764:D8678N	ENSP00000343764:D8678N	D	-	1	0	TTN	179277680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.872000	0.63050	2.767000	0.95098	0.655000	0.94253	GAC		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	133	0	0	0	0.093190	0	13	133				
ACR	49	broad.mit.edu	37	22	51183206	51183206	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:51183206G>T	ENST00000216139.5	+	5	877	c.837G>T	c.(835-837)tgG>tgT	p.W279C	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCACCTGGCCCTATCTGA	0.597																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(835-837)tgG>tgT		acrosin							14.0	16.0	15.0					22																	51183206		2194	4268	6462	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51183206G>T	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.837G>T	22.37:g.51183206G>T	ENSP00000216139:p.Trp279Cys					ACR_ENST00000527761.1_3'UTR	p.W279C	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	5	877	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	279			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.837G>T	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302954	0.40795	.	.	ENSG00000100312	ENST00000216139	D	0.88431	-2.38	4.19	3.17	0.36434	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.382752	0.19487	N	0.113087	D	0.82875	0.5132	N	0.01874	-0.695	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.72384	-0.4310	10	0.56958	D	0.05	-14.1835	6.3667	0.21459	0.2211:0.0:0.7789:0.0	.	279	P10323	ACRO_HUMAN	C	279	ENSP00000216139:W279C	ENSP00000216139:W279C	W	+	3	0	ACR	49530072	1.000000	0.71417	0.656000	0.29637	0.943000	0.58893	3.881000	0.56152	0.980000	0.38523	0.305000	0.20034	TGG		0.597	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		7	107	1	0	2.0095e-06	0.029380	2.12469e-06	7	107				
TMEM214	54867	broad.mit.edu	37	2	27259447	27259447	+	Silent	SNP	C	C	T	rs532355662		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27259447C>T	ENST00000238788.9	+	6	875	c.813C>T	c.(811-813)acC>acT	p.T271T	TMEM214_ENST00000404032.3_Silent_p.T226T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	271					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCAACCTCACCGAGGGACTGA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20937	0.0		0.0	False		,,,				2504	0.001					ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(811-813)acC>acT		transmembrane protein 214							94.0	93.0	94.0					2																	27259447		1926	4135	6061	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27259447C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.813C>T	2.37:g.27259447C>T						TMEM214_ENST00000404032.3_Silent_p.T226T	p.T271T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			6	875	+			271					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.813C>T	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181700	0.21787	.	.	ENSG00000119777	ENST00000425720	.	.	.	5.36	-2.2	0.06994	.	.	.	.	.	T	0.42765	0.1217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31861	-0.9928	4	.	.	.	-3.7222	4.0227	0.09673	0.1008:0.3716:0.0916:0.436	.	.	.	.	L	30	.	.	P	+	2	0	TMEM214	27112951	0.032000	0.19561	0.992000	0.48379	0.974000	0.67602	-0.752000	0.04797	-0.254000	0.09500	-0.291000	0.09656	CCG		0.567	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		63	672	0	0	0	0.139131	0	63	672				
SDK2	54549	broad.mit.edu	37	17	71354323	71354323	+	Missense_Mutation	SNP	C	C	T	rs146597384		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:71354323C>T	ENST00000392650.3	-	40	5488	c.5488G>A	c.(5488-5490)Gtg>Atg	p.V1830M	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.V1811M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1830	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATGATGGGCACGCCAGGCGGT	0.652																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(5488-5490)Gtg>Atg		sidekick cell adhesion molecule 2		C	MET/VAL	0,4406		0,0,2203	128.0	118.0	121.0		5488	4.1	1.0	17	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	no	missense	SDK2	NM_001144952.1	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1830/2173	71354323	2,13004	2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71354323C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5488G>A	17.37:g.71354323C>T	ENSP00000376421:p.Val1830Met					SDK2_ENST00000388726.3_Missense_Mutation_p.V1811M|SDK2_ENST00000410094.1_5'UTR	p.V1830M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			40	5488	-			1830			Fibronectin type-III 13.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.5488G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987639	0.35036	0.0	2.33E-4	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.60797	0.16;0.16;0.16	5.12	4.06	0.47325	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.299519	0.31734	N	0.007160	T	0.37598	0.1009	N	0.16266	0.395	0.32151	N	0.58424	P;P;B	0.43169	0.8;0.468;0.413	B;B;B	0.38056	0.258;0.264;0.172	T	0.51036	-0.8756	10	0.39692	T	0.17	.	10.6128	0.45432	0.0:0.8683:0.0:0.1317	.	1830;1830;1811	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	M	1454;1830;1811;987;1830;171	ENSP00000376421:V1830M;ENSP00000373378:V1811M;ENSP00000407098:V987M	ENSP00000324967:V1830M	V	-	1	0	SDK2	68865918	0.976000	0.34144	0.993000	0.49108	0.212000	0.24457	2.454000	0.44979	2.377000	0.81083	0.655000	0.94253	GTG		0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		82	780	0	0	0	0.139131	0	82	780				
NEFL	4747	broad.mit.edu	37	8	24813396	24813396	+	RNA	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:24813396G>A	ENST00000221169.5	-	0	1228				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGTCGATGCGCTTCTCGAGC	0.627																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide							25.0	28.0	27.0					8																	24813396		1951	4132	6083			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813396G>A		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813396G>A										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1228	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.627	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		13	195	0	0	0	0.146539	0	13	195				
PCDHB8	56128	broad.mit.edu	37	5	140559035	140559035	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140559035G>A	ENST00000239444.2	+	1	1665	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	474	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V474I(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.662																																						ENST00000239444.2																			2	Substitution - Missense(2)	p.V474I(2)	endometrium(1)|kidney(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1420-1422)Gtc>Atc									80.0	122.0	108.0					5																	140559035		2203	4293	6496	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559035G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1420G>A	5.37:g.140559035G>A	ENSP00000239444:p.Val474Ile						p.V474I	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1665	+			474			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1420G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260842	0.23051	.	.	ENSG00000120322	ENST00000239444	T	0.02787	4.16	4.26	1.9	0.25705	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03520	0.0101	L	0.51853	1.615	0.09310	N	0.999999	B	0.21071	0.051	B	0.24006	0.05	T	0.43081	-0.9413	9	0.25106	T	0.35	.	7.5775	0.27944	0.4462:0.0:0.5538:0.0	.	474	Q9UN66	PCDB8_HUMAN	I	474	ENSP00000239444:V474I	ENSP00000239444:V474I	V	+	1	0	PCDHB8	140539219	0.020000	0.18652	0.998000	0.56505	0.970000	0.65996	0.204000	0.17335	0.466000	0.27193	0.305000	0.20034	GTC		0.662	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		30	2000	0	0	0	0.058154	0	30	2000				
ATG16L1	55054	broad.mit.edu	37	2	234182379	234182379	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:234182379G>A	ENST00000392017.4	+	8	1064	c.807G>A	c.(805-807)tcG>tcA	p.S269S	ATG16L1_ENST00000392018.1_Silent_p.S269S|ATG16L1_ENST00000392020.4_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000498620.1_Intron|ATG16L1_ENST00000373525.5_Silent_p.S125S|SCARNA5_ENST00000516201.1_RNA	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	269					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AGCGACTCTCGCAGCCTGCTG	0.383																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(805-807)tcG>tcA		autophagy related 16-like 1 (S. cerevisiae)							132.0	138.0	136.0					2																	234182379		2203	4300	6503	SO:0001819	synonymous_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234182379G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.807G>A	2.37:g.234182379G>A						ATG16L1_ENST00000392020.4_Intron|ATG16L1_ENST00000373525.5_Silent_p.S125S|ATG16L1_ENST00000498620.1_Intron|ATG16L1_ENST00000392018.1_Silent_p.S269S|ATG16L1_ENST00000347464.5_Intron	p.S269S	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	8	1064	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	269					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	c.807G>A	CCDS2503.2																																																																																				0.383	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		10	415	0	0	0	0.080935	0	10	415				
SPTB	6710	broad.mit.edu	37	14	65271700	65271700	+	Missense_Mutation	SNP	C	C	T	rs200814297	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:65271700C>T	ENST00000389721.5	-	2	289	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPTB_ENST00000556626.1_Missense_Mutation_p.R86H|SPTB_ENST00000542895.1_Missense_Mutation_p.R86H|SPTB_ENST00000389722.3_Missense_Mutation_p.R86H|SPTB_ENST00000389720.3_Missense_Mutation_p.R86H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	86	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GATGAGCATGCGCCCATCCCG	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		17124	0.0		0.001	False		,,,				2504	0.001					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(256-258)cGc>cAc		spectrin, beta, erythrocytic							88.0	86.0	87.0					14																	65271700		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65271700C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.257G>A	14.37:g.65271700C>T	ENSP00000374371:p.Arg86His					SPTB_ENST00000389720.3_Missense_Mutation_p.R86H|SPTB_ENST00000389721.5_Missense_Mutation_p.R86H|SPTB_ENST00000542895.1_Missense_Mutation_p.R86H|SPTB_ENST00000556626.1_Missense_Mutation_p.R86H	p.R86H	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	2	310	-		all_lung(585;4.15e-09)	86			Actin-binding.|CH 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.257G>A	CCDS32100.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.3	4.818640	0.90790	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.67	3.79	0.43588	Calponin homology domain (5);	0.063724	0.64402	D	0.000018	T	0.54935	0.1889	N	0.04724	-0.175	0.51482	D	0.999929	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.978	T	0.64300	-0.6440	10	0.72032	D	0.01	.	12.1813	0.54214	0.0:0.915:0.0:0.085	.	86;90	P11277;Q59FP5	SPTB1_HUMAN;.	H	90;86;86;86;86;86	ENSP00000374372:R86H;ENSP00000451752:R86H;ENSP00000374371:R86H;ENSP00000443882:R86H;ENSP00000374370:R86H	ENSP00000374370:R86H	R	-	2	0	SPTB	64341453	1.000000	0.71417	0.924000	0.36721	0.990000	0.78478	5.779000	0.68948	1.338000	0.45544	0.650000	0.86243	CGC		0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			7	474	0	0	0	0.038147	0	7	474				
HECTD4	283450	broad.mit.edu	37	12	112622141	112622141	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:112622141G>A	ENST00000430131.2	-	60	10508	c.9363C>T	c.(9361-9363)acC>acT	p.T3121T	HECTD4_ENST00000550722.1_Silent_p.T3397T|HECTD4_ENST00000377560.5_Silent_p.T3371T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3121					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ccaggctgccGGTGCTGCACA	0.677																																						ENST00000550722.1																			0											c.(10189-10191)acC>acT		HECT domain containing E3 ubiquitin protein ligase 4							21.0	27.0	25.0					12																	112622141		1987	4164	6151	SO:0001819	synonymous_variant	283450							g.chr12:112622141G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9363C>T	12.37:g.112622141G>A						HECTD4_ENST00000377560.5_Silent_p.T3371T|HECTD4_ENST00000430131.2_Silent_p.T3121T	p.T3397T	NM_001109662.3	NP_001103132.3					61	10586	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10191C>T																																																																																					0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		16	249	0	0	0	0.132662	0	16	249				
ZFHX3	463	broad.mit.edu	37	16	72830460	72830460	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:72830460G>T	ENST00000268489.5	-	9	6793	c.6121C>A	c.(6121-6123)Cca>Aca	p.P2041T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1127T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2041	Poly-Pro.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGGAGGTGGTGGTGGCTCT	0.617																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6121-6123)Cca>Aca		zinc finger homeobox 3							39.0	45.0	43.0					16																	72830460		2193	4285	6478	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830460G>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6121C>A	16.37:g.72830460G>T	ENSP00000268489:p.Pro2041Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1127T	p.P2041T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6793	-		Ovarian(137;0.13)	2041			Poly-Pro.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6121C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	3.790	-0.043817	0.07452	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74106	-0.81;-0.81	5.64	4.69	0.59074	.	0.000000	0.38663	N	0.001612	T	0.61350	0.2340	N	0.20986	0.625	0.44976	D	0.997991	B	0.14438	0.01	B	0.08055	0.003	T	0.56025	-0.8047	10	0.33940	T	0.23	.	13.9878	0.64345	0.0733:0.0:0.9267:0.0	.	2041	Q15911	ZFHX3_HUMAN	T	2041;1127	ENSP00000268489:P2041T;ENSP00000438926:P1127T	ENSP00000268489:P2041T	P	-	1	0	ZFHX3	71387961	1.000000	0.71417	0.013000	0.15412	0.084000	0.17831	6.194000	0.72082	1.372000	0.46190	0.655000	0.94253	CCA		0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		21	277	1	0	2.89027e-11	0.069288	3.09538e-11	21	277				
NPTX2	4885	broad.mit.edu	37	7	98254349	98254349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:98254349C>A	ENST00000265634.3	+	3	924	c.759C>A	c.(757-759)tgC>tgA	p.C253*		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	253	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCACCATCTGCCTGTGGCTGC	0.597																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(757-759)tgC>tgA		neuronal pentraxin II							169.0	135.0	146.0					7																	98254349		2203	4300	6503	SO:0001587	stop_gained	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254349C>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.759C>A	7.37:g.98254349C>A	ENSP00000265634:p.Cys253*						p.C253*	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	924	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		253			Pentaxin.		A4D267|Q86XV7|Q96G70	Nonsense_Mutation	SNP	ENST00000265634.3	37	c.759C>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	38	6.716400	0.97784	.	.	ENSG00000106236	ENST00000265634	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2072	14.0476	0.64714	0.0:0.9254:0.0:0.0746	.	.	.	.	X	253	.	ENSP00000265634:C253X	C	+	3	2	NPTX2	98092285	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.923000	0.63412	2.667000	0.90743	0.561000	0.74099	TGC		0.597	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		32	955	1	0	1.99505e-19	0.163468	2.17881e-19	32	955				
CHST6	4166	broad.mit.edu	37	16	75512997	75512997	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:75512997C>T	ENST00000332272.4	-	3	909	c.730G>A	c.(730-732)Gag>Aag	p.E244K	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.E244K	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	244					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGCACACCTCGCGCACCACG	0.716																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(730-732)Gag>Aag		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							19.0	22.0	21.0					16																	75512997		2181	4275	6456	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512997C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.730G>A	16.37:g.75512997C>T	ENSP00000328983:p.Glu244Lys					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.E244K	p.E244K	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	909	-			244					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.730G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273669	0.40194	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.84070	-1.8;-1.8	4.62	4.62	0.57501	Sulfotransferase domain (1);	0.054593	0.64402	D	0.000001	T	0.72407	0.3456	L	0.41415	1.275	0.54753	D	0.999985	P	0.43662	0.814	B	0.37508	0.252	T	0.72544	-0.4261	10	0.06365	T	0.9	.	14.9564	0.71116	0.0:1.0:0.0:0.0	.	244	Q9GZX3	CHST6_HUMAN	K	244	ENSP00000328983:E244K;ENSP00000375079:E244K	ENSP00000328983:E244K	E	-	1	0	CHST6	74070498	1.000000	0.71417	0.958000	0.39756	0.159000	0.22180	4.836000	0.62789	2.121000	0.65114	0.591000	0.81541	GAG		0.716	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		28	198	0	0	0	0.125774	0	28	198				
PEX5L	51555	broad.mit.edu	37	3	179519804	179519804	+	Missense_Mutation	SNP	A	A	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:179519804A>C	ENST00000467460.1	-	15	2023	c.1693T>G	c.(1693-1695)Ttt>Gtt	p.F565V	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.F373V|PEX5L_ENST00000392649.3_Missense_Mutation_p.F457V|PEX5L_ENST00000476138.1_Missense_Mutation_p.F522V|PEX5L_ENST00000485199.1_Missense_Mutation_p.F530V|PEX5L_ENST00000263962.8_Missense_Mutation_p.F563V|PEX5L_ENST00000472994.1_Missense_Mutation_p.F506V|PEX5L_ENST00000464614.1_Missense_Mutation_p.F457V|PEX5L_ENST00000465751.1_Missense_Mutation_p.F541V|RP11-494H4.3_ENST00000602704.1_lincRNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	565					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCAGTGAGAAAATTGCTGACC	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1693-1695)Ttt>Gtt		peroxisomal biogenesis factor 5-like							112.0	119.0	117.0					3																	179519804		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179519804A>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1693T>G	3.37:g.179519804A>C	ENSP00000419975:p.Phe565Val					PEX5L_ENST00000476138.1_Missense_Mutation_p.F522V|PEX5L_ENST00000472994.1_Missense_Mutation_p.F506V|PEX5L_ENST00000468741.1_Missense_Mutation_p.F373V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.F541V|PEX5L_ENST00000464614.1_Missense_Mutation_p.F457V|PEX5L_ENST00000392649.3_Missense_Mutation_p.F457V|PEX5L_ENST00000263962.8_Missense_Mutation_p.F563V|PEX5L_ENST00000485199.1_Missense_Mutation_p.F530V	p.F565V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		15	2023	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		565					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1693T>G	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998351	0.74818	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.996;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.995;0.994;0.998;0.998;0.999	D	0.83429	0.0037	10	0.87932	D	0	-16.2057	15.5389	0.76024	1.0:0.0:0.0:0.0	.	506;541;457;563;530;565	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	565;563;530;563;457;373;522;453;506;457;541	ENSP00000419975:F565V;ENSP00000263962:F563V;ENSP00000418440:F530V;ENSP00000376420:F457V;ENSP00000418665:F373V;ENSP00000420555:F522V;ENSP00000418054:F506V;ENSP00000417270:F457V;ENSP00000419348:F541V	ENSP00000263962:F563V	F	-	1	0	PEX5L	181002498	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.962000	0.93254	2.067000	0.61834	0.482000	0.46254	TTT		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		92	542	0	0	0	0.139131	0	92	542				
ZFAND4	93550	broad.mit.edu	37	10	46143814	46143814	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:46143814G>A	ENST00000344646.5	-	5	712	c.497C>T	c.(496-498)cCg>cTg	p.P166L	ZFAND4_ENST00000374366.3_Missense_Mutation_p.P92L|ZFAND4_ENST00000374371.2_Missense_Mutation_p.P166L|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	166							zinc ion binding (GO:0008270)										GTCAGATAACGGTGTTAAAGT	0.378																																						ENST00000374366.3																			0											c.(274-276)cCg>cTg		zinc finger, AN1-type domain 4							152.0	141.0	144.0					10																	46143814		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46143814G>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.497C>T	10.37:g.46143814G>A	ENSP00000339484:p.Pro166Leu					ZFAND4_ENST00000374371.2_Missense_Mutation_p.P166L|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.P166L	p.P92L			Q86XD8	ANUB1_HUMAN			6	740	-			166			Ubiquitin-like.		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.275C>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080722	0.94050	.	.	ENSG00000172671	ENST00000344646;ENST00000374371;ENST00000374366;ENST00000374376;ENST00000374370	T;T;T	0.58797	0.76;0.31;0.72	5.34	5.34	0.76211	.	0.792256	0.10916	N	0.620082	T	0.74427	0.3715	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71941	-0.4440	10	0.87932	D	0	-14.7302	16.8904	0.86085	0.0:0.0:1.0:0.0	.	166;166	Q5VVY4;Q86XD8	.;ANUB1_HUMAN	L	166;166;92;166;48	ENSP00000339484:P166L;ENSP00000363491:P166L;ENSP00000363486:P92L	ENSP00000339484:P166L	P	-	2	0	ANUBL1	45463820	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.179000	0.94861	2.631000	0.89168	0.585000	0.79938	CCG		0.378	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		17	577	0	0	0	0.175082	0	17	577				
LILRB1	10859	broad.mit.edu	37	19	55147979	55147979	+	Missense_Mutation	SNP	C	C	T	rs375960208		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:55147979C>T	ENST00000396331.1	+	15	2039	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	LILRB1_ENST00000324602.7_Missense_Mutation_p.T563M|LILRB1_ENST00000427581.2_Missense_Mutation_p.T612M|LILRB1_ENST00000396317.1_Missense_Mutation_p.T545M|LILRB1_ENST00000396327.3_Missense_Mutation_p.T562M|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Missense_Mutation_p.T545M|LILRB1_ENST00000396321.2_Missense_Mutation_p.T561M|LILRB1_ENST00000396315.1_Missense_Mutation_p.T563M|LILRB1_ENST00000396332.4_Missense_Mutation_p.T562M|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000434867.2_Missense_Mutation_p.T561M|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	561					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGCAGTGACGTATGCCGAG	0.567										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1681-1683)aCg>aTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1		C	MET/THR,MET/THR,MET/THR,MET/THR	1,4403	2.1+/-5.4	0,1,2201	67.0	65.0	66.0		1688,1685,1685,1682	-2.8	0.0	19		66	0,8592		0,0,4296	no	missense,missense,missense,missense	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	81,81,81,81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	563/653,562/652,562/652,561/651	55147979	1,12995	2202	4296	6498	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55147979C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1682C>T	19.37:g.55147979C>T	ENSP00000379622:p.Thr561Met	HNSCC(37;0.09)				LILRB1_ENST00000418536.2_Missense_Mutation_p.T545M|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.T563M|LILRB1_ENST00000427581.2_Missense_Mutation_p.T612M|LILRB1_ENST00000396332.4_Missense_Mutation_p.T562M|LILRB1_ENST00000434867.2_Missense_Mutation_p.T561M|LILRB1_ENST00000396327.3_Missense_Mutation_p.T562M|LILRB1_ENST00000396315.1_Missense_Mutation_p.T563M|LILRB1_ENST00000396317.1_Missense_Mutation_p.T545M|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396321.2_Missense_Mutation_p.T561M	p.T561M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	15	2039	+			561					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1682C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	6.061	0.379572	0.11466	2.27E-4	0.0	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00524	6.9;6.97;6.9;6.89;6.93;6.9;6.91;6.82;6.97;6.93	1.41	-2.82	0.05787	.	.	.	.	.	T	0.01061	0.0035	M	0.67569	2.06	0.09310	N	1	P;D;D;D;D	0.89917	0.897;1.0;0.999;1.0;1.0	B;D;P;D;D	0.91635	0.229;0.999;0.818;0.973;0.982	T	0.37619	-0.9698	9	0.72032	D	0.01	.	3.5514	0.07848	0.0:0.3464:0.2071:0.4465	.	545;563;562;562;561	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	M	561;545;561;562;563;561;562;612;545;563	ENSP00000379614:T561M;ENSP00000391514:T545M;ENSP00000379622:T561M;ENSP00000379618:T562M;ENSP00000315997:T563M;ENSP00000405243:T561M;ENSP00000379623:T562M;ENSP00000395004:T612M;ENSP00000379610:T545M;ENSP00000379608:T563M	ENSP00000315997:T563M	T	+	2	0	LILRB1	59839791	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.135000	0.01306	-1.382000	0.02109	0.194000	0.17425	ACG		0.567	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			7	319	0	0	0	0.029380	0	7	319				
NRBP1	29959	broad.mit.edu	37	2	27656328	27656328	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27656328G>A	ENST00000233557.3	+	3	1020	c.188G>A	c.(187-189)cGc>cAc	p.R63H	NRBP1_ENST00000379863.3_Missense_Mutation_p.R63H|NRBP1_ENST00000379852.3_Missense_Mutation_p.R63H			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	63				R -> G (in Ref. 4; BAD96856). {ECO:0000305}.	ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCCTGTGGGCGCTGGCAGAAG	0.493																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(187-189)cGc>cAc		nuclear receptor binding protein 1							52.0	50.0	51.0					2																	27656328		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27656328G>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.188G>A	2.37:g.27656328G>A	ENSP00000233557:p.Arg63His					NRBP1_ENST00000379863.3_Missense_Mutation_p.R63H|NRBP1_ENST00000379852.3_Missense_Mutation_p.R63H	p.R63H			Q9UHY1	NRBP_HUMAN			3	1020	+	Acute lymphoblastic leukemia(172;0.155)		63	R -> G (in Ref. 4; BAD96856).				B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.188G>A	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101086	0.94245	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863;ENST00000419281;ENST00000356442	D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99790	1.1031	10	0.87932	D	0	-7.28	15.5895	0.76517	0.0:0.0:1.0:0.0	.	63;63	F8W6G1;Q9UHY1	.;NRBP_HUMAN	H	63;43;63;63;63;63	ENSP00000233557:R63H;ENSP00000369181:R63H;ENSP00000369192:R63H;ENSP00000403916:R63H;ENSP00000415406:R63H	ENSP00000233557:R63H	R	+	2	0	NRBP1	27509832	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.165000	0.77544	2.469000	0.83416	0.563000	0.77884	CGC		0.493	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		28	163	0	0	0	0.099896	0	28	163				
JAKMIP3	282973	broad.mit.edu	37	10	133958614	133958614	+	Missense_Mutation	SNP	C	C	T	rs373222736		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:133958614C>T	ENST00000298622.4	+	11	1744	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	536						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTACAGACCCGTGAGCAGCT	0.572																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1606-1608)Cgt>Tgt		Janus kinase and microtubule interacting protein 3		C	CYS/ARG	0,4400		0,0,2200	24.0	24.0	24.0		1606	4.4	1.0	10		24	1,8585	1.2+/-3.3	0,1,4292	no	missense	JAKMIP3	NM_001105521.2	180	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	536/845	133958614	1,12985	2200	4293	6493	SO:0001583	missense	282973							g.chr10:133958614C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1606C>T	10.37:g.133958614C>T	ENSP00000298622:p.Arg536Cys					JAKMIP3_ENST00000477275.1_3'UTR	p.R536C	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	11	1744	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.1606C>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451038	0.84209	0.0	1.16E-4	ENSG00000188385	ENST00000298622	T	0.28069	1.63	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.67397	2.05	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.59380	-0.7465	10	0.62326	D	0.03	-6.9023	17.2152	0.86941	0.0:1.0:0.0:0.0	.	536	Q5VZ66	JKIP3_HUMAN	C	536	ENSP00000298622:R536C	ENSP00000298622:R536C	R	+	1	0	JAKMIP3	133808604	0.997000	0.39634	1.000000	0.80357	0.873000	0.50193	4.298000	0.59067	2.289000	0.77006	0.478000	0.44815	CGT		0.572	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		8	86	0	0	0	0.047766	0	8	86				
MYH4	4622	broad.mit.edu	37	17	10360755	10360755	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:10360755C>T	ENST00000255381.2	-	16	1989	c.1879G>A	c.(1879-1881)Gca>Aca	p.A627T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	627	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCAGTTTGTGCCCCAGAGAAG	0.458																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1879-1881)Gca>Aca		myosin, heavy chain 4, skeletal muscle							69.0	67.0	68.0					17																	10360755		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360755C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1879G>A	17.37:g.10360755C>T	ENSP00000255381:p.Ala627Thr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A627T	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			16	1989	-			627			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1879G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652326	0.29336	.	.	ENSG00000141048	ENST00000255381	D	0.87809	-2.3	5.01	3.02	0.34903	Myosin head, motor domain (2);	0.873392	0.09141	U	0.842917	T	0.78413	0.4279	L	0.28344	0.845	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.66360	-0.5943	10	0.62326	D	0.03	.	5.0816	0.14659	0.1647:0.6585:0.0:0.1768	.	627	Q9Y623	MYH4_HUMAN	T	627	ENSP00000255381:A627T	ENSP00000255381:A627T	A	-	1	0	MYH4	10301480	.	.	0.294000	0.24946	0.121000	0.20230	.	.	0.639000	0.30564	-0.258000	0.10820	GCA		0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	304	0	0	0	0.014758	0	5	304				
SPZ1	84654	broad.mit.edu	37	5	79617205	79617205	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:79617205G>T	ENST00000296739.4	+	1	1416	c.1171G>T	c.(1171-1173)Gac>Tac	p.D391Y		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	391					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTGGAAAAAAGACAGATCCTG	0.363																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(1171-1173)Gac>Tac		spermatogenic leucine zipper 1							79.0	78.0	78.0					5																	79617205		1846	4092	5938	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79617205G>T		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1171G>T	5.37:g.79617205G>T	ENSP00000369611:p.Asp391Tyr						p.D391Y	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1416	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	391					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.1171G>T	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916976	0.33815	.	.	ENSG00000164299	ENST00000296739	T	0.34275	1.37	4.07	-0.985	0.10256	.	1.693690	0.03356	N	0.196825	T	0.30947	0.0781	N	0.24115	0.695	0.09310	N	1	P	0.47677	0.899	P	0.48141	0.568	T	0.18650	-1.0330	10	0.56958	D	0.05	-9.6529	4.5345	0.12022	0.3753:0.3186:0.306:0.0	.	391	Q9BXG8	SPZ1_HUMAN	Y	391	ENSP00000369611:D391Y	ENSP00000369611:D391Y	D	+	1	0	SPZ1	79652961	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.076000	0.11412	-0.210000	0.10140	0.557000	0.71058	GAC		0.363	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		30	333	1	0	4.74835e-14	0.153744	5.15181e-14	30	333				
CAPN12	147968	broad.mit.edu	37	19	39227921	39227921	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:39227921G>C	ENST00000328867.4	-	10	1545	c.1237C>G	c.(1237-1239)Cgg>Ggg	p.R413G	CAPN12_ENST00000601953.1_Missense_Mutation_p.R264G|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	413	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTGGGCCCCGTGCCCCTGCA	0.682																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1237-1239)Cgg>Ggg		calpain 12							7.0	7.0	7.0					19																	39227921		2003	3966	5969	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39227921G>C	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1237C>G	19.37:g.39227921G>C	ENSP00000331636:p.Arg413Gly					CAPN12_ENST00000601953.1_Missense_Mutation_p.R264G	p.R413G	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		10	1545	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		413			Domain III.			Missense_Mutation	SNP	ENST00000328867.4	37	c.1237C>G	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	G	0.622	-0.820871	0.02755	.	.	ENSG00000182472	ENST00000328867	D	0.87491	-2.26	3.63	-7.25	0.01470	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	1.096470	0.07239	N	0.864013	T	0.69646	0.3134	N	0.08118	0	0.09310	N	1	D	0.53312	0.959	P	0.45474	0.482	T	0.67833	-0.5568	10	0.72032	D	0.01	.	0.5316	0.00630	0.2627:0.2117:0.3088:0.2169	.	413	Q6ZSI9	CAN12_HUMAN	G	413	ENSP00000331636:R413G	ENSP00000331636:R413G	R	-	1	2	CAPN12	43919761	0.004000	0.15560	0.000000	0.03702	0.020000	0.10135	-0.151000	0.10175	-2.733000	0.00383	-1.164000	0.01763	CGG		0.682	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			4	12	0	0	0	0.029380	0	4	12				
FOXI2	399823	broad.mit.edu	37	10	129536923	129536923	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:129536923G>A	ENST00000388920.4	+	2	690	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	217					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGGCCGAGGCGCCAGCGCTGG	0.687																																					Esophageal Squamous(54;1038 1280 2528 31583)	ENST00000388920.4																			0				large_intestine(1)|lung(3)	4						c.(649-651)gcG>gcA		forkhead box I2							12.0	14.0	14.0					10																	129536923		2161	4224	6385	SO:0001819	synonymous_variant	399823				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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	g.chr10:129536923G>A	AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.651G>A	10.37:g.129536923G>A							p.A217A	NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN			2	690	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	217						Silent	SNP	ENST00000388920.4	37	c.651G>A	CCDS7655.2																																																																																				0.687	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426		12	44	0	0	0	0.080935	0	12	44				
OR2Z1	284383	broad.mit.edu	37	19	8841411	8841411	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:8841411G>A	ENST00000324060.2	+	1	96	c.21G>A	c.(19-21)tcG>tcA	p.S7S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGAATCAGTCGGTGGCCTCAG	0.507																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(19-21)tcG>tcA		olfactory receptor, family 2, subfamily Z, member 1							73.0	68.0	70.0					19																	8841411		2203	4300	6503	SO:0001819	synonymous_variant	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841411G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.21G>A	19.37:g.8841411G>A							p.S7S	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	96	+			7					B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	c.21G>A	CCDS32895.1																																																																																				0.507	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			10	255	0	0	0	0.069234	0	10	255				
LINGO2	158038	broad.mit.edu	37	9	27950456	27950456	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:27950456C>T	ENST00000379992.2	-	6	663	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	LINGO2_ENST00000308675.3_Missense_Mutation_p.V72I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	72						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCAGGGTTGACGCTTTTTAGC	0.438																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(214-216)Gtc>Atc		leucine rich repeat and Ig domain containing 2							227.0	232.0	230.0					9																	27950456		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950456C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.214G>A	9.37:g.27950456C>T	ENSP00000369328:p.Val72Ile					LINGO2_ENST00000308675.3_Missense_Mutation_p.V72I	p.V72I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	663	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	72					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.214G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345908	0.24426	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.79940	-1.32;-1.32	5.74	-0.389	0.12455	.	0.260319	0.39146	N	0.001448	T	0.51058	0.1652	N	0.02916	-0.46	0.28877	N	0.894603	B	0.10296	0.003	B	0.16722	0.016	T	0.40997	-0.9533	9	.	.	.	.	6.2594	0.20891	0.0:0.4835:0.1174:0.3991	.	72	Q7L985	LIGO2_HUMAN	I	72	ENSP00000369328:V72I;ENSP00000310126:V72I	.	V	-	1	0	LINGO2	27940456	0.005000	0.15991	0.032000	0.17829	0.948000	0.59901	-0.024000	0.12435	-0.259000	0.09432	0.561000	0.74099	GTC		0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		138	782	0	0	0	0.139131	0	138	782				
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A	rs371252868		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692																																						ENST00000400368.1																			5	Substitution - coding silent(5)	p.S322S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(964-966)tcC>tcT		keratin associated protein 10-6							66.0	81.0	76.0					21																	46011400		2201	4300	6501	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011400G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.966C>T	21.37:g.46011400G>A						TSPEAR_ENST00000323084.4_Intron	p.S322S	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	986	-			322			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.966C>T	CCDS42959.1																																																																																				0.692	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		6	490	0	0	0	0.029380	0	6	490				
OR8B12	219858	broad.mit.edu	37	11	124413511	124413511	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:124413511C>T	ENST00000306842.2	-	1	64	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTTAAGCCTTCGAGGATAAAC	0.527																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(40-42)Gaa>Aaa		olfactory receptor, family 8, subfamily B, member 12							35.0	39.0	38.0					11																	124413511		2199	4296	6495	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413511C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.40G>A	11.37:g.124413511C>T	ENSP00000307159:p.Glu14Lys						p.E14K	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	64	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	14					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.40G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	4.997	0.185119	0.09495	.	.	ENSG00000170953	ENST00000306842	T	0.00428	7.44	3.89	-2.85	0.05734	.	1.175280	0.06306	N	0.701801	T	0.00210	0.0006	L	0.28608	0.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33979	-0.9847	10	0.15952	T	0.53	.	0.5361	0.00637	0.2405:0.2212:0.3029:0.2355	.	14	Q8NGG6	OR8BC_HUMAN	K	14	ENSP00000307159:E14K	ENSP00000307159:E14K	E	-	1	0	OR8B12	123918721	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-2.011000	0.01452	-0.570000	0.06022	-0.188000	0.12872	GAA		0.527	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			46	341	0	0	0	0.139131	0	46	341				
CNPY2	10330	broad.mit.edu	37	12	56705188	56705188	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:56705188G>A	ENST00000273308.4	-	4	755	c.215C>T	c.(214-216)gCc>gTc	p.A72V	CNPY2_ENST00000551720.1_Intron|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.A72V	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	72	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CTCTGAGCGGGCATAAGGCAC	0.473																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(214-216)gCc>gTc		canopy FGF signaling regulator 2							108.0	107.0	108.0					12																	56705188		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705188G>A	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.215C>T	12.37:g.56705188G>A	ENSP00000273308:p.Ala72Val					CNPY2_ENST00000551720.1_Intron|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.A72V|RP11-977G19.11_ENST00000549565.1_RNA	p.A72V	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	755	-			72			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.215C>T	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968230	0.92855	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.38	5.38	0.77491	Saposin B (1);	0.232964	0.42420	D	0.000707	T	0.60521	0.2275	M	0.77486	2.375	0.80722	D	1	D	0.69078	0.997	D	0.66351	0.943	T	0.57877	-0.7735	10	0.34782	T	0.22	-14.6712	18.277	0.90087	0.0:0.0:1.0:0.0	.	72	Q9Y2B0	CNPY2_HUMAN	V	72;72;72;20	ENSP00000446743:A72V;ENSP00000273308:A72V;ENSP00000448809:A72V;ENSP00000446784:A20V	ENSP00000273308:A72V	A	-	2	0	RP11-977G19.10;CNPY2	54991455	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.630000	0.98420	2.695000	0.91970	0.561000	0.74099	GCC		0.473	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		6	551	0	0	0	0.021553	0	6	551				
HCN1	348980	broad.mit.edu	37	5	45267329	45267329	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:45267329G>A	ENST00000303230.4	-	7	1702	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	549					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGCAGTACGACGTCCTTTG	0.408																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1645-1647)Cgt>Tgt		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							120.0	110.0	114.0					5																	45267329		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267329G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1645C>T	5.37:g.45267329G>A	ENSP00000307342:p.Arg549Cys						p.R549C	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			7	1702	-			549						Missense_Mutation	SNP	ENST00000303230.4	37	c.1645C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564739	0.86439	.	.	ENSG00000164588	ENST00000303230	D	0.98028	-4.67	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000004	D	0.99248	0.9738	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98824	1.0748	10	0.87932	D	0	.	15.061	0.71955	0.0:0.0:0.8581:0.1419	.	549	O60741	HCN1_HUMAN	C	549	ENSP00000307342:R549C	ENSP00000307342:R549C	R	-	1	0	HCN1	45303086	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	4.327000	0.59247	2.813000	0.96785	0.655000	0.94253	CGT		0.408	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		10	376	0	0	0	0.069234	0	10	376				
B4GALNT4	338707	broad.mit.edu	37	11	373804	373804	+	Silent	SNP	C	C	T	rs149327151	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:373804C>T	ENST00000329962.6	+	8	759	c.759C>T	c.(757-759)cgC>cgT	p.R253R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	253					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGACGACCGCGGCTCGGACC	0.642													.|||	11	0.00219649	0.0	0.0	5008	,	,		16813	0.001		0.0	False		,,,				2504	0.0102					ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(757-759)cgC>cgT		beta-1,4-N-acetyl-galactosaminyl transferase 4		C		0,4390		0,0,2195	79.0	72.0	74.0		759	-8.8	0.2	11	dbSNP_134	74	7,8573	5.0+/-18.6	0,7,4283	no	coding-synonymous	B4GALNT4	NM_178537.4		0,7,6478	TT,TC,CC		0.0816,0.0,0.054		253/1040	373804	7,12963	2195	4290	6485	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373804C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.759C>T	11.37:g.373804C>T							p.R253R	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	759	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	253					Q96LV2	Silent	SNP	ENST00000329962.6	37	c.759C>T	CCDS7694.1																																																																																				0.642	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		10	329	0	0	0	0.069234	0	10	329				
SEPT6	23157	broad.mit.edu	37	X	118763358	118763358	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:118763358C>T	ENST00000343984.5	-	9	1467	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SEPT6_ENST00000360156.7_Silent_p.T401T|SEPT6_ENST00000489216.1_Silent_p.T401T|SEPT6_ENST00000394617.2_Silent_p.T431T|SEPT6_ENST00000354416.3_Silent_p.T401T|SEPT6_ENST00000394616.4_Silent_p.T343T|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394610.1_Silent_p.T401T|SEPT6_ENST00000354228.4_Silent_p.T401T	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	401					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCTCAGCCGCCGTCTTTCTTT	0.507			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(1201-1203)acG>acA		septin 6							131.0	127.0	128.0					X																	118763358		2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118763358C>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1203G>A	X.37:g.118763358C>T						SEPT6_ENST00000343984.5_Silent_p.T401T|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394616.4_Silent_p.T343T|SEPT6_ENST00000360156.7_Silent_p.T401T|SEPT6_ENST00000354416.3_Silent_p.T401T|SEPT6_ENST00000394617.2_Silent_p.T431T|SEPT6_ENST00000489216.1_Silent_p.T401T|SEPT6_ENST00000354228.4_Silent_p.T401T	p.T401T	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			9	1467	-			401					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.1203G>A	CCDS14584.1																																																																																				0.507	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		8	551	0	0	0	0.038147	0	8	551				
ABCC5	10057	broad.mit.edu	37	3	183655752	183655752	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:183655752G>A	ENST00000334444.6	-	26	4031	c.3791C>T	c.(3790-3792)gCc>gTc	p.A1264V	ABCC5_ENST00000265586.6_Missense_Mutation_p.A1221V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1264	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TCGGAGGTCGGCAAGGCCAAT	0.547																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3790-3792)gCc>gTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							88.0	89.0	88.0					3																	183655752		2067	4206	6273	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183655752G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3791C>T	3.37:g.183655752G>A	ENSP00000333926:p.Ala1264Val					ABCC5_ENST00000265586.6_Missense_Mutation_p.A1221V	p.A1264V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		26	4031	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1264			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3791C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.681123	0.68042	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.93906	-3.31;-3.31	5.73	4.85	0.62838	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.107611	0.64402	N	0.000008	D	0.93933	0.8058	L	0.42581	1.335	0.54753	D	0.999985	P;B	0.34837	0.472;0.192	P;B	0.50270	0.636;0.19	D	0.93819	0.7117	10	0.62326	D	0.03	-17.6057	14.4739	0.67535	0.0702:0.0:0.9298:0.0	.	1221;1264	Q86UX3;O15440	.;MRP5_HUMAN	V	1264;1221	ENSP00000333926:A1264V;ENSP00000265586:A1221V	ENSP00000265586:A1221V	A	-	2	0	ABCC5	185138446	1.000000	0.71417	0.417000	0.26559	0.662000	0.39071	3.481000	0.53179	1.423000	0.47198	0.655000	0.94253	GCC		0.547	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		5	348	0	0	0	0.014758	0	5	348				
RBMXL2	27288	broad.mit.edu	37	11	7111150	7111150	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:7111150G>A	ENST00000306904.5	+	1	986	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	267	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGAGGTCGCGACCGTGACTA	0.672																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(799-801)Gac>Aac		RNA binding motif protein, X-linked-like 2							26.0	30.0	29.0					11																	7111150		2196	4293	6489	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111150G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.799G>A	11.37:g.7111150G>A	ENSP00000304139:p.Asp267Asn						p.D267N	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	986	+			267			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.799G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166618	0.38217	.	.	ENSG00000170748	ENST00000306904	T	0.79033	-1.23	3.08	2.16	0.27623	.	0.329620	0.31188	U	0.008081	T	0.63570	0.2522	M	0.62723	1.935	0.22185	N	0.999308	P	0.47545	0.897	B	0.26770	0.073	T	0.59343	-0.7472	10	0.41790	T	0.15	.	8.1948	0.31389	0.1269:0.0:0.8731:0.0	.	267	O75526	HNRGT_HUMAN	N	267	ENSP00000304139:D267N	ENSP00000304139:D267N	D	+	1	0	RBMXL2	7067726	1.000000	0.71417	0.997000	0.53966	0.540000	0.34992	4.576000	0.60915	0.850000	0.35239	0.467000	0.42956	GAC		0.672	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		32	189	0	0	0	0.163468	0	32	189				
ADCYAP1	116	broad.mit.edu	37	18	909573	909573	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:909573C>T	ENST00000579794.1	+	4	746	c.468C>T	c.(466-468)gcC>gcT	p.A156A	ADCYAP1_ENST00000450565.3_Silent_p.A156A|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	156	Important for receptor binding.				activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTTGGCGGCCGTCCTAGGGA	0.527																																						ENST00000579794.1																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(466-468)gcC>gcT		adenylate cyclase activating polypeptide 1 (pituitary)							104.0	122.0	116.0					18																	909573		2203	4300	6503	SO:0001819	synonymous_variant	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:909573C>T	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.468C>T	18.37:g.909573C>T						ADCYAP1_ENST00000450565.3_Silent_p.A156A	p.A156A	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN			4	746	+			156			Important for receptor binding.		B2R7N4|Q52LQ0	Silent	SNP	ENST00000579794.1	37	c.468C>T	CCDS11825.1																																																																																				0.527	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		48	781	0	0	0	0.139131	0	48	781				
VSTM1	284415	broad.mit.edu	37	19	54544289	54544289	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:54544289C>T	ENST00000338372.2	-	9	812	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	VSTM1_ENST00000366170.2_Missense_Mutation_p.A125T|VSTM1_ENST00000376626.1_Missense_Mutation_p.A182T|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	213					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCAGACAGGGCGCTGGTGCTT	0.517																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(637-639)Gcc>Acc		V-set and transmembrane domain containing 1							54.0	50.0	51.0					19																	54544289		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54544289C>T	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.637G>A	19.37:g.54544289C>T	ENSP00000343366:p.Ala213Thr					VSTM1_ENST00000366170.2_Missense_Mutation_p.A125T|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.A182T	p.A213T	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	9	812	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		213					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.637G>A	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	5.160	0.215136	0.09810	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.53640	1.95;6.86;5.64;0.61	2.67	0.505	0.16953	.	.	.	.	.	T	0.18882	0.0453	N	0.17082	0.46	0.09310	N	1	P;P	0.42871	0.572;0.792	B;B	0.22880	0.042;0.023	T	0.11991	-1.0565	9	0.20046	T	0.44	.	4.9295	0.13910	0.0:0.7045:0.0:0.2955	.	182;213	D2DJS4;Q6UX27	.;VSTM1_HUMAN	T	103;213;182;125	ENSP00000409412:A103T;ENSP00000343366:A213T;ENSP00000365813:A182T;ENSP00000444153:A125T	ENSP00000343366:A213T	A	-	1	0	VSTM1	59236101	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.595000	0.05727	0.222000	0.20900	0.585000	0.79938	GCC		0.517	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		6	190	0	0	0	0.021553	0	6	190				
RAP1GDS1	5910	broad.mit.edu	37	4	99325653	99325653	+	Silent	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:99325653T>C	ENST00000408927.3	+	7	776	c.663T>C	c.(661-663)agT>agC	p.S221S	RAP1GDS1_ENST00000380158.4_Silent_p.S173S|RAP1GDS1_ENST00000453712.2_Silent_p.S222S|RAP1GDS1_ENST00000339360.5_Silent_p.S222S|RAP1GDS1_ENST00000408900.3_Silent_p.S172S|RAP1GDS1_ENST00000264572.7_Silent_p.S130S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	221					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AGTTTGCCAGTACAAACATTG	0.299			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(661-663)agT>agC		RAP1, GTP-GDP dissociation stimulator 1							70.0	68.0	69.0					4																	99325653		1803	4070	5873	SO:0001819	synonymous_variant	5910						binding|GTPase activator activity	g.chr4:99325653T>C		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.663T>C	4.37:g.99325653T>C						RAP1GDS1_ENST00000264572.7_Silent_p.S130S|RAP1GDS1_ENST00000339360.5_Silent_p.S222S|RAP1GDS1_ENST00000453712.2_Silent_p.S222S|RAP1GDS1_ENST00000380158.4_Silent_p.S173S|RAP1GDS1_ENST00000408900.3_Silent_p.S172S	p.S221S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	7	776	+			221					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Silent	SNP	ENST00000408927.3	37	c.663T>C	CCDS43253.1																																																																																				0.299	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		30	263	0	0	0	0.134883	0	30	263				
PYGB	5834	broad.mit.edu	37	20	25259058	25259058	+	Missense_Mutation	SNP	G	G	A	rs369254260		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:25259058G>A	ENST00000216962.4	+	8	1069	c.959G>A	c.(958-960)cGg>cAg	p.R320Q		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	320					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TTCGGCTGCCGGGACCCTGTG	0.622																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(958-960)cGg>cAg		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)	G	GLN/ARG	0,4406		0,0,2203	85.0	79.0	81.0		959	3.6	1.0	20		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	PYGB	NM_002862.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	320/844	25259058	1,13005	2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25259058G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.959G>A	20.37:g.25259058G>A	ENSP00000216962:p.Arg320Gln						p.R320Q	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			8	1069	+			320					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.959G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485682	0.63962	0.0	1.16E-4	ENSG00000100994	ENST00000216962	D	0.93189	-3.18	3.61	3.61	0.41365	.	0.057691	0.64402	D	0.000002	D	0.92469	0.7609	M	0.73962	2.25	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	D	0.91653	0.5336	10	0.62326	D	0.03	-35.0412	15.4242	0.75038	0.0:0.0:1.0:0.0	.	320	P11216	PYGB_HUMAN	Q	320	ENSP00000216962:R320Q	ENSP00000216962:R320Q	R	+	2	0	PYGB	25207058	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.075000	0.64407	2.027000	0.59764	0.462000	0.41574	CGG		0.622	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		9	359	0	0	0	0.047766	0	9	359				
EMR2	30817	broad.mit.edu	37	19	14862377	14862377	+	Missense_Mutation	SNP	G	G	A	rs45563436		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:14862377G>A	ENST00000315576.3	-	16	2346	c.1895C>T	c.(1894-1896)aCg>aTg	p.T632M	EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000392967.2_Missense_Mutation_p.T621M|EMR2_ENST00000596991.2_Missense_Mutation_p.T621M|EMR2_ENST00000392965.3_Missense_Mutation_p.T574M|EMR2_ENST00000601345.1_Missense_Mutation_p.T621M|EMR2_ENST00000594076.1_Missense_Mutation_p.T539M|EMR2_ENST00000595839.1_Missense_Mutation_p.T490M|EMR2_ENST00000353876.1_Missense_Mutation_p.T539M|EMR2_ENST00000594294.1_Missense_Mutation_p.T583M|EMR2_ENST00000346057.1_Missense_Mutation_p.T583M|EMR2_ENST00000353005.1_Missense_Mutation_p.T490M	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	632					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTTGACCACCGTCAGGTTCCG	0.557																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1894-1896)aCg>aTg		egf-like module containing, mucin-like, hormone receptor-like 2							133.0	114.0	121.0					19																	14862377		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14862377G>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1895C>T	19.37:g.14862377G>A	ENSP00000319883:p.Thr632Met					EMR2_ENST00000353005.1_Missense_Mutation_p.T490M|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000392965.3_Missense_Mutation_p.T574M|EMR2_ENST00000594294.1_Missense_Mutation_p.T583M|EMR2_ENST00000346057.1_Missense_Mutation_p.T583M|EMR2_ENST00000596991.2_Missense_Mutation_p.T621M|EMR2_ENST00000353876.1_Missense_Mutation_p.T539M|EMR2_ENST00000601345.1_Missense_Mutation_p.T621M|EMR2_ENST00000595839.1_Missense_Mutation_p.T490M|EMR2_ENST00000392967.2_Missense_Mutation_p.T621M|EMR2_ENST00000594076.1_Missense_Mutation_p.T539M	p.T632M	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			16	2346	-			632					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1895C>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	4.918	0.170666	0.09391	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	4.34	-8.68	0.00859	GPCR, family 2-like (1);	.	.	.	.	T	0.11793	0.0287	N	0.02685	-0.53	0.09310	N	1	B;B;B;B;B;B;B;B	0.32604	0.025;0.055;0.105;0.377;0.049;0.06;0.055;0.049	B;B;B;B;B;B;B;B	0.36289	0.067;0.058;0.221;0.133;0.04;0.097;0.098;0.04	T	0.30357	-0.9981	9	0.33940	T	0.23	.	2.7383	0.05246	0.4838:0.0821:0.2029:0.2313	rs45563436	574;539;632;490;583;632;632;621	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	M	632;621;583;539;490;574	ENSP00000319883:T632M;ENSP00000376694:T621M;ENSP00000263380:T583M;ENSP00000319454:T539M;ENSP00000319838:T490M;ENSP00000376692:T574M	ENSP00000319883:T632M	T	-	2	0	EMR2	14723377	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.432000	0.02430	-2.429000	0.00558	-1.478000	0.00992	ACG		0.557	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			46	344	0	0	0	0.124865	0	46	344				
RNF220	55182	broad.mit.edu	37	1	45111155	45111155	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:45111155C>T	ENST00000355387.2	+	12	1890	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	RNF220_ENST00000361799.2_Silent_p.I480I|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Silent_p.I267I|RNF220_ENST00000372247.2_Silent_p.I480I|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372242.3_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220	480					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)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						ACAGCGACATCGAGAAGTAAG	0.592																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(1438-1440)atC>atT		ring finger protein 220							105.0	90.0	95.0					1																	45111155		2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45111155C>T	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.1440C>T	1.37:g.45111155C>T						TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000443020.2_Silent_p.I267I|RNF220_ENST00000372247.2_Silent_p.I480I|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000361799.2_Silent_p.I480I	p.I480I			Q5VTB9	RN220_HUMAN			12	1890	+			480					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.1440C>T	CCDS510.1																																																																																				0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		6	225	0	0	0	0.029380	0	6	225				
COL6A2	1292	broad.mit.edu	37	21	47532319	47532319	+	Missense_Mutation	SNP	G	G	A	rs371640468		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:47532319G>A	ENST00000300527.4	+	3	646	c.542G>A	c.(541-543)cGc>cAc	p.R181H	COL6A2_ENST00000310645.5_Missense_Mutation_p.R181H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R181H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R181H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R181H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	181	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGCGGGCCCGCGAGGAGGGC	0.711																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(541-543)cGc>cAc		collagen, type VI, alpha 2		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4332		0,0,2166	11.0	17.0	15.0		542,542,542	4.3	1.0	21		15	2,8504		0,2,4251	no	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	29,29,29	0,2,6417	AA,AG,GG		0.0235,0.0,0.0156	probably-damaging,probably-damaging,probably-damaging	181/1020,181/919,181/829	47532319	2,12836	2166	4253	6419	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532319G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.542G>A	21.37:g.47532319G>A	ENSP00000300527:p.Arg181His					COL6A2_ENST00000397763.1_Missense_Mutation_p.R181H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R181H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R181H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R181H	p.R181H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	646	+	Breast(49;0.245)		181			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.542G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948589	0.73787	0.0	2.35E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	4.34	4.34	0.51931	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.88464	0.3057	10	0.56958	D	0.05	-18.7979	17.2361	0.86999	0.0:0.0:1.0:0.0	.	181;181;181	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	181	ENSP00000300527:R181H;ENSP00000350497:R181H;ENSP00000312529:R181H;ENSP00000387115:R181H;ENSP00000380870:R181H	ENSP00000300527:R181H	R	+	2	0	COL6A2	46356747	1.000000	0.71417	0.994000	0.49952	0.753000	0.42808	6.374000	0.73132	2.142000	0.66516	0.467000	0.42956	CGC		0.711	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			7	142	0	0	0	0.029380	0	7	142				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	209	0	0	0	0.029380	0	6	209				
TTN	7273	broad.mit.edu	37	2	179604915	179604915	+	Missense_Mutation	SNP	C	C	T	rs140847585		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:179604915C>T	ENST00000591111.1	-	46	12318	c.12094G>A	c.(12094-12096)Gtg>Atg	p.V4032M	TTN_ENST00000589042.1_Missense_Mutation_p.V4349M|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3986M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4111M|TTN_ENST00000342175.6_Missense_Mutation_p.V4178M			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCATCACCACGTTGTCAGAA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20411	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13045-13047)Gtg>Atg		titin							96.0	93.0	94.0					2																	179604915		1892	4120	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604915C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12094G>A	2.37:g.179604915C>T	ENSP00000465570:p.Val4032Met					TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4032M|TTN_ENST00000342175.6_Missense_Mutation_p.V4178M|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3986M|TTN_ENST00000359218.5_Missense_Mutation_p.V4111M	p.V4349M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13269	-			4032			Ig-like 23.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13045G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.825	-0.471181	0.04445	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59224	0.33;0.28;0.28	5.79	-7.05	0.01573	.	.	.	.	.	T	0.25606	0.0623	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.17137	-1.0379	9	0.87932	D	0	.	1.9877	0.03439	0.1367:0.2419:0.1332:0.4882	.	3986;4111;4178	D3DPF9;E7EQE6;E7ET18	.;.;.	M	3986;4178;4111;3986	ENSP00000434586:V3986M;ENSP00000340554:V4178M;ENSP00000352154:V4111M	ENSP00000340554:V4178M	V	-	1	0	TTN	179313160	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.041000	0.13927	-0.967000	0.03582	-1.461000	0.01025	GTG		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	440	0	0	0	0.139131	0	74	440				
SHKBP1	92799	broad.mit.edu	37	19	41089528	41089528	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:41089528G>A	ENST00000291842.5	+	12	1119	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SHKBP1_ENST00000600733.1_Missense_Mutation_p.R332H	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	357					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCCCTTGCGCATGAAAGAC	0.622																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1069-1071)cGc>cAc		SH3KBP1 binding protein 1							141.0	119.0	127.0					19																	41089528		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41089528G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1070G>A	19.37:g.41089528G>A	ENSP00000291842:p.Arg357His					SHKBP1_ENST00000600733.1_Missense_Mutation_p.R332H	p.R357H	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1119	+			357					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1070G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877395	0.91664	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.69561	-0.41	5.57	3.43	0.39272	WD40 repeat-like-containing domain (1);	0.055489	0.64402	N	0.000001	T	0.82254	0.4997	M	0.86573	2.825	0.80722	D	1	D;D;B;B;D;B	0.89917	1.0;1.0;0.022;0.054;1.0;0.032	D;D;B;B;D;B	0.97110	1.0;1.0;0.011;0.017;0.996;0.007	D	0.83850	0.0262	10	0.87932	D	0	-14.3256	11.5145	0.50513	0.1493:0.0:0.8507:0.0	.	235;194;280;194;357;357	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	H	357;194	ENSP00000291842:R357H	ENSP00000291842:R357H	R	+	2	0	SHKBP1	45781368	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	9.216000	0.95154	0.723000	0.32274	0.555000	0.69702	CGC		0.622	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		54	615	0	0	0	0.139131	0	54	615				
EIF4ENIF1	56478	broad.mit.edu	37	22	31859948	31859948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:31859948G>A	ENST00000397525.1	-	5	527	c.304C>T	c.(304-306)Cga>Tga	p.R102*	EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	102						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACACGCTCTCGTGGATCTGGA	0.502																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(304-306)Cga>Tga		eukaryotic translation initiation factor 4E nuclear import factor 1							56.0	57.0	56.0					22																	31859948		2203	4300	6503	SO:0001587	stop_gained	56478					nucleus	protein binding|protein transporter activity	g.chr22:31859948G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.304C>T	22.37:g.31859948G>A	ENSP00000380659:p.Arg102*					EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA	p.R102*	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			5	527	-			102					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Nonsense_Mutation	SNP	ENST00000397525.1	37	c.304C>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314938	0.81358	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.56	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2781	11.1724	0.48579	0.0:0.0:0.6601:0.3399	.	.	.	.	X	102	.	ENSP00000328103:R102X	R	-	1	2	EIF4ENIF1	30189948	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.528000	0.53524	2.792000	0.96026	0.557000	0.71058	CGA		0.502	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		14	310	0	0	0	0.105934	0	14	310				
BEND2	139105	broad.mit.edu	37	X	18189251	18189251	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:18189251G>A	ENST00000380033.4	-	13	2187	c.2055C>T	c.(2053-2055)tgC>tgT	p.C685C	BEND2_ENST00000380030.3_Silent_p.C594C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	685	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.C685C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACAGGCTTGCGCAAGACTTAG	0.428																																						ENST00000380033.4																			1	Substitution - coding silent(1)	p.C685C(1)	NS(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(2053-2055)tgC>tgT		BEN domain containing 2							151.0	130.0	137.0					X																	18189251		2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18189251G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2055C>T	X.37:g.18189251G>A						BEND2_ENST00000380030.3_Silent_p.C594C	p.C685C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			13	2187	-			685			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.2055C>T	CCDS14184.1																																																																																				0.428	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		33	304	0	0	0	0.144211	0	33	304				
LRP3	4037	broad.mit.edu	37	19	33696374	33696374	+	Missense_Mutation	SNP	G	G	A	rs372645682		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:33696374G>A	ENST00000253193.7	+	5	900	c.698G>A	c.(697-699)cGc>cAc	p.R233H	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	233	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GTGGAGCGGCGCTGTGACGGC	0.756																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(697-699)cGc>cAc		low density lipoprotein receptor-related protein 3							6.0	8.0	7.0					19																	33696374		1995	3993	5988	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696374G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.698G>A	19.37:g.33696374G>A	ENSP00000253193:p.Arg233His						p.R233H	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	900	+	Esophageal squamous(110;0.137)		233			LDL-receptor class A 2.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.698G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808604	0.70797	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	D	0.95918	-3.85	4.55	4.55	0.56014	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.065509	0.64402	D	0.000016	D	0.96688	0.8919	L	0.54323	1.7	0.51767	D	0.999933	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.73380	0.98;0.928;0.971	D	0.96652	0.9482	10	0.46703	T	0.11	-36.2965	16.3046	0.82843	0.0:0.0:1.0:0.0	.	107;233;151	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	H	107;233	ENSP00000253193:R233H	ENSP00000253193:R233H	R	+	2	0	LRP3	38388214	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.748000	0.62148	2.100000	0.63781	0.462000	0.41574	CGC		0.756	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			3	46	0	0	0	0.115264	0	3	46				
ACSS1	84532	broad.mit.edu	37	20	24993297	24993297	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:24993297C>T	ENST00000323482.4	-	12	1790	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Missense_Mutation_p.D450N|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Missense_Mutation_p.D488N	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	571					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAGGGTGGTCGGCCTGTGTA	0.577																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1462-1464)Gac>Aac		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						161.0	159.0	160.0					20																	24993297		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24993297C>T		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1711G>A	20.37:g.24993297C>T	ENSP00000316924:p.Asp571Asn					ACSS1_ENST00000323482.4_Missense_Mutation_p.D571N|ACSS1_ENST00000542618.1_Missense_Mutation_p.D450N|ACSS1_ENST00000432802.2_Intron	p.D488N			Q9NUB1	ACS2L_HUMAN			10	2993	-			571		V -> M (in dbSNP:rs6050249).			B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1462G>A	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	4.698	0.129783	0.08981	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	T;T;T	0.56611	0.45;0.45;0.45	4.99	-0.479	0.12089	AMP-dependent synthetase/ligase (1);	0.657282	0.16258	N	0.222378	T	0.29355	0.0731	N	0.05487	-0.04	0.32980	D	0.52345	B;B;B;B	0.14012	0.009;0.002;0.002;0.004	B;B;B;B	0.13407	0.008;0.005;0.009;0.007	T	0.23868	-1.0176	10	0.62326	D	0.03	-46.939	9.8175	0.40862	0.0:0.5814:0.0:0.4186	.	366;569;571;488	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	N	571;366;488;450	ENSP00000316924:D571N;ENSP00000439304:D488N;ENSP00000437657:D450N	ENSP00000316924:D571N	D	-	1	0	ACSS1	24941297	0.009000	0.17119	0.897000	0.35233	0.145000	0.21501	-0.125000	0.10579	0.077000	0.16863	-0.367000	0.07326	GAC		0.577	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		22	664	0	0	0	0.076483	0	22	664				
FGF17	8822	broad.mit.edu	37	8	21900685	21900685	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:21900685A>G	ENST00000359441.3	+	2	568	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	FGF17_ENST00000518533.1_Missense_Mutation_p.Q22R	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	22					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CTCTGCTGTCAAACTCAGGTA	0.622																																						ENST00000359441.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						c.(64-66)cAa>cGa		fibroblast growth factor 17							82.0	74.0	76.0					8																	21900685		2203	4300	6503	SO:0001583	missense	8822				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr8:21900685A>G	AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.65A>G	8.37:g.21900685A>G	ENSP00000352414:p.Gln22Arg					FGF17_ENST00000518533.1_Missense_Mutation_p.Q22R	p.Q22R	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	2	568	+			22					B7ZLG4|Q2M2W1	Missense_Mutation	SNP	ENST00000359441.3	37	c.65A>G	CCDS6019.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675057	0.47781	.	.	ENSG00000158815	ENST00000518533;ENST00000359441	T;T	0.76839	-1.05;-0.99	5.06	3.91	0.45181	.	0.152994	0.44285	D	0.000469	T	0.67951	0.2948	L	0.59436	1.845	0.24466	N	0.99442	B;B	0.16396	0.017;0.01	B;B	0.08055	0.003;0.001	T	0.51132	-0.8744	10	0.12103	T	0.63	-8.3178	7.58	0.27959	0.9017:0.0:0.0983:0.0	.	22;22	O60258-2;O60258	.;FGF17_HUMAN	R	22	ENSP00000431041:Q22R;ENSP00000352414:Q22R	ENSP00000352414:Q22R	Q	+	2	0	FGF17	21956631	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.635000	0.46537	0.892000	0.36259	0.459000	0.35465	CAA		0.622	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214154.2	NM_003867		6	145	0	0	0	0.021553	0	6	145				
THAP2	83591	broad.mit.edu	37	12	72070632	72070632	+	Missense_Mutation	SNP	A	A	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:72070632A>T	ENST00000308086.2	+	3	1932	c.431A>T	c.(430-432)gAa>gTa	p.E144V	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	144						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						CTGGAAAAAGAAATAGCAAGC	0.358																																						ENST00000308086.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						c.(430-432)gAa>gTa		THAP domain containing, apoptosis associated protein 2							74.0	77.0	76.0					12																	72070632		2203	4299	6502	SO:0001583	missense	83591					nucleolus	DNA binding|metal ion binding	g.chr12:72070632A>T	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.431A>T	12.37:g.72070632A>T	ENSP00000310796:p.Glu144Val					RP11-293I14.2_ENST00000548802.1_Intron	p.E144V	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN			3	1932	+			144					B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	c.431A>T	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059949	0.55325	.	.	ENSG00000173451	ENST00000308086;ENST00000551488;ENST00000551238	D;D;D	0.96265	-3.96;-2.81;-2.81	6.04	6.04	0.98038	.	0.316535	0.29631	N	0.011609	D	0.94568	0.8250	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	D	0.95060	0.8195	10	0.40728	T	0.16	.	15.4125	0.74937	1.0:0.0:0.0:0.0	.	144	Q9H0W7	THAP2_HUMAN	V	144;72;72	ENSP00000310796:E144V;ENSP00000448904:E72V;ENSP00000446986:E72V	ENSP00000310796:E144V	E	+	2	0	THAP2	70356899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.682000	0.68182	2.317000	0.78254	0.460000	0.39030	GAA		0.358	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		33	248	0	0	0	0.163468	0	33	248				
FMN2	56776	broad.mit.edu	37	1	240374520	240374520	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:240374520G>A	ENST00000319653.9	+	6	4280	c.4050G>A	c.(4048-4050)aaG>aaA	p.K1350K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1350	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTATCTCAAAGACGAAGGCTA	0.328																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4048-4050)aaG>aaA		formin 2							112.0	114.0	114.0					1																	240374520		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240374520G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4050G>A	1.37:g.240374520G>A							p.K1350K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		6	4280	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1350			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4050G>A	CCDS31069.2																																																																																				0.328	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		18	545	0	0	0	0.175082	0	18	545				
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs199538020	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:102292770C>T	ENST00000561463.1	+	0	816									DNM1 pseudogene 47																		AGCGGCGCGACGAGATGCTGC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292770C>T														0	816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		12	85	0	0	0	0.132662	0	12	85				
RBBP8	5932	broad.mit.edu	37	18	20572961	20572961	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:20572961G>A	ENST00000399722.2	+	11	1522	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	RBBP8_ENST00000399725.2_Missense_Mutation_p.G391R|RBBP8_ENST00000327155.5_Missense_Mutation_p.G391R|RBBP8_ENST00000360790.5_Missense_Mutation_p.G391R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	391					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCACAGTCTTGGGTCTGAAGT	0.333								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1171-1173)Ggg>Agg	Homologous recombination	retinoblastoma binding protein 8							60.0	64.0	62.0					18																	20572961		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572961G>A	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1171G>A	18.37:g.20572961G>A	ENSP00000382628:p.Gly391Arg					RBBP8_ENST00000360790.5_Missense_Mutation_p.G391R|RBBP8_ENST00000327155.5_Missense_Mutation_p.G391R|RBBP8_ENST00000399725.2_Missense_Mutation_p.G391R	p.G391R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1522	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		391					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.1171G>A	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209431	0.58343	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.50813	0.82;0.73;0.82;0.8;0.82	6.17	6.17	0.99709	.	0.353536	0.28515	N	0.015062	T	0.72503	0.3468	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.986;1.0	D;P;D	0.77004	0.989;0.9;0.989	T	0.72786	-0.4188	10	0.87932	D	0	-2.7777	20.8794	0.99867	0.0:0.0:1.0:0.0	.	391;391;391	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	R	391	ENSP00000323050:G391R;ENSP00000382630:G391R;ENSP00000382628:G391R;ENSP00000382627:G391R;ENSP00000354024:G391R	ENSP00000323050:G391R	G	+	1	0	RBBP8	18826959	1.000000	0.71417	0.779000	0.31741	0.295000	0.27426	6.761000	0.74945	2.941000	0.99782	0.655000	0.94253	GGG		0.333	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		107	725	0	0	0	0.139131	0	107	725				
MTHFD2P1	100287639	broad.mit.edu	37	3	95374591	95374591	+	RNA	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:95374591G>T	ENST00000494840.1	-	0	1270					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		CCAAAATGCCGTGCTGTGGAA	0.488																																						ENST00000494840.1																			0																																																			0							g.chr3:95374591G>T			3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374591G>T								NR_077228.1						0	1270	-									RNA	SNP	ENST00000494840.1	37																																																																																						0.488	MTHFD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352943.1			4	40	1	0	0.00909568	0.150653	0.00932026	4	40				
LAS1L	81887	broad.mit.edu	37	X	64738237	64738237	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:64738237G>A	ENST00000374811.3	-	12	1597	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	LAS1L_ENST00000374804.5_Silent_p.G460G|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Silent_p.G502G	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	519					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGGCCTCAGAGCCCTCCTGCA	0.582																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1555-1557)ggC>ggT		LAS1-like (S. cerevisiae)							66.0	63.0	64.0					X																	64738237		2203	4300	6503	SO:0001819	synonymous_variant	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64738237G>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1557C>T	X.37:g.64738237G>A						LAS1L_ENST00000374804.5_Silent_p.G460G|LAS1L_ENST00000374807.5_Silent_p.G502G|LAS1L_ENST00000312391.8_3'UTR	p.G519G	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			12	1597	-			519					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	c.1557C>T	CCDS14381.1																																																																																				0.582	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		20	278	0	0	0	0.055883	0	20	278				
WHSC1L1	54904	broad.mit.edu	37	8	38133932	38133932	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:38133932C>T	ENST00000317025.8	-	23	4471	c.3954G>A	c.(3952-3954)caG>caA	p.Q1318Q	WHSC1L1_ENST00000527502.1_Silent_p.Q1307Q|RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000433384.2_Silent_p.Q1269Q	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1318					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTCATGCATCTGCTTTGGTT	0.423			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(3952-3954)caG>caA		Wolf-Hirschhorn syndrome candidate 1-like 1							243.0	226.0	232.0					8																	38133932		1981	4171	6152	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38133932C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3954G>A	8.37:g.38133932C>T						RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000527502.1_Silent_p.Q1307Q|WHSC1L1_ENST00000433384.2_Silent_p.Q1269Q	p.Q1318Q	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		23	4471	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1318					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.3954G>A	CCDS43729.1																																																																																				0.423	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		22	226	0	0	0	0.055883	0	22	226				
FSTL4	23105	broad.mit.edu	37	5	132534846	132534846	+	Missense_Mutation	SNP	G	G	A	rs150466282		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:132534846G>A	ENST00000265342.7	-	16	2719	c.2470C>T	c.(2470-2472)Cgg>Tgg	p.R824W	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	824						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTCACACCGCAGCGTGTTT	0.577													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17191	0.0		0.0	False		,,,				2504	0.0					ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2470-2472)Cgg>Tgg		follistatin-like 4		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	67.0	68.0		2470	3.4	0.2	5	dbSNP_134	68	7,8593	5.7+/-21.5	0,7,4293	yes	missense	FSTL4	NM_015082.1	101	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	probably-damaging	824/843	132534846	8,12998	2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132534846G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2470C>T	5.37:g.132534846G>A	ENSP00000265342:p.Arg824Trp					CTB-49A3.2_ENST00000509051.1_RNA	p.R824W	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2719	-		all_cancers(142;0.244)	824					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2470C>T	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873565	0.33069	2.27E-4	8.14E-4	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.60171	0.21	5.24	3.38	0.38709	Immunoglobulin-like (1);	0.348042	0.31636	N	0.007301	T	0.68128	0.2967	M	0.64997	1.995	0.26112	N	0.980672	D;D	0.76494	0.993;0.999	B;P	0.59703	0.405;0.862	T	0.63453	-0.6634	10	0.87932	D	0	-8.5055	12.7775	0.57457	0.0:0.0:0.692:0.308	.	824;473	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	W	824;655	ENSP00000265342:R824W	ENSP00000265342:R824W	R	-	1	2	FSTL4	132562745	1.000000	0.71417	0.192000	0.23308	0.183000	0.23260	3.063000	0.49978	0.529000	0.28599	0.650000	0.86243	CGG		0.577	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		10	256	0	0	0	0.069234	0	10	256				
MTUS2	23281	broad.mit.edu	37	13	29598940	29598940	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:29598940G>A	ENST00000431530.3	+	1	193	c.135G>A	c.(133-135)acG>acA	p.T45T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	35						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGGAGATACGAATGCCAATC	0.438																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(133-135)acG>acA		microtubule associated tumor suppressor candidate 2							63.0	60.0	61.0					13																	29598940		1933	4137	6070	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29598940G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.135G>A	13.37:g.29598940G>A							p.T45T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	193	+			35					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.135G>A	CCDS45022.1																																																																																				0.438	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		10	214	0	0	0	0.058154	0	10	214				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	108	0	0	0	0.080935	0	11	108				
FLT1	2321	broad.mit.edu	37	13	28908198	28908198	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:28908198G>T	ENST00000282397.4	-	18	2808	c.2557C>A	c.(2557-2559)Cct>Act	p.P853T	FLT1_ENST00000540678.1_Missense_Mutation_p.P71T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	853	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGCACGTAGGTGATTTCTTA	0.428																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2557-2559)Cct>Act		fms-related tyrosine kinase 1	Sunitinib(DB01268)						195.0	174.0	181.0					13																	28908198		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28908198G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2557C>A	13.37:g.28908198G>T	ENSP00000282397:p.Pro853Thr					FLT1_ENST00000540678.1_Missense_Mutation_p.P71T	p.P853T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	18	2808	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	853			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2557C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226424	0.22542	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.81996	-1.56;-1.56	5.76	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.124676	0.56097	D	0.000027	T	0.67674	0.2918	N	0.11870	0.19	0.49582	D	0.999802	P	0.36086	0.536	B	0.39590	0.304	T	0.61217	-0.7107	10	0.30854	T	0.27	.	6.352	0.21381	0.0697:0.1325:0.6603:0.1375	.	853	P17948	VGFR1_HUMAN	T	853;71	ENSP00000282397:P853T;ENSP00000443311:P71T	ENSP00000282397:P853T	P	-	1	0	FLT1	27806198	0.991000	0.36638	0.604000	0.28916	0.812000	0.45895	2.164000	0.42387	0.744000	0.32741	0.655000	0.94253	CCT		0.428	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			96	700	1	0	1.90545e-35	0.139131	2.1087e-35	96	700				
ADAM23	8745	broad.mit.edu	37	2	207452819	207452819	+	Missense_Mutation	SNP	G	G	A	rs376901578		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:207452819G>A	ENST00000264377.3	+	20	2121	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	ADAM23_ENST00000374415.3_Missense_Mutation_p.R598H|ADAM23_ENST00000374416.1_Missense_Mutation_p.R598H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	598	Cys-rich.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCCAGGGCCGCTGCTACAAT	0.498																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1792-1794)cGc>cAc		ADAM metallopeptidase domain 23		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	142.0	119.0	127.0		1793	5.7	1.0	2		127	0,8600		0,0,4300	no	missense	ADAM23	NM_003812.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	598/833	207452819	1,13005	2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207452819G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1793G>A	2.37:g.207452819G>A	ENSP00000264377:p.Arg598His					ADAM23_ENST00000374416.1_Missense_Mutation_p.R598H|ADAM23_ENST00000374415.3_Missense_Mutation_p.R598H	p.R598H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	20	2121	+			598			Cys-rich.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1793G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373467	0.82573	2.27E-4	0.0	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.22134	1.97;1.97;1.97	5.73	5.73	0.89815	ADAM, cysteine-rich (2);	0.000000	0.64402	D	0.000009	T	0.34745	0.0908	L	0.39514	1.22	0.80722	D	1	D	0.62365	0.991	P	0.55871	0.786	T	0.01212	-1.1417	10	0.52906	T	0.07	.	19.8948	0.96954	0.0:0.0:1.0:0.0	.	598	O75077	ADA23_HUMAN	H	598;598;492;598	ENSP00000264377:R598H;ENSP00000363537:R598H;ENSP00000363536:R598H	ENSP00000264377:R598H	R	+	2	0	ADAM23	207161064	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.837000	0.99465	2.699000	0.92147	0.655000	0.94253	CGC		0.498	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		40	321	0	0	0	0.139131	0	40	321				
PCDHB7	56129	broad.mit.edu	37	5	140553676	140553676	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140553676C>T	ENST00000231137.3	+	1	1434	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	420	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCGTCA	0.512																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1258-1260)acC>acT									142.0	128.0	133.0					5																	140553676		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553676C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1260C>T	5.37:g.140553676C>T							p.T420T	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1434	+			420			Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1260C>T	CCDS4249.1																																																																																				0.512	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	372	0	0	0	0.021553	0	5	372				
ADRA1A	148	broad.mit.edu	37	8	26627800	26627800	+	Missense_Mutation	SNP	G	G	A	rs367786537		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:26627800G>A	ENST00000519229.1	-	2	1273	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	ADRA1A_ENST00000380582.3_Missense_Mutation_p.R423W|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000380573.3_Missense_Mutation_p.R423W|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R423W			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0	Poly-Arg.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTTCTCACCCGGGCTGTGGTA	0.507																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1267-1269)Cgg>Tgg		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	124.0	124.0		1267,1267,1267,1267	5.6	1.0	8		124	0,8600		0,0,4300	no	missense,missense,missense,missense	ADRA1A	NM_000680.2,NM_033302.2,NM_033303.3,NM_033304.2	101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	423/467,423/430,423/476,423/456	26627800	1,13005	2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627800G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1267C>T	8.37:g.26627800G>A	ENSP00000430793:p.Arg423Trp					ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R423W|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R423W|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R423W|ADRA1A_ENST00000380581.2_Intron	p.R423W			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	2290	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	423					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.1267C>T		.	.	.	.	.	.	.	.	.	.	G	19.82	3.898005	0.72639	2.27E-4	0.0	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.63913	2.25;-0.01;-0.05;-0.07;0.01;0.01	5.63	5.63	0.86233	.	0.444361	0.20030	N	0.100736	T	0.72867	0.3514	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	P;P;P;P	0.62298	0.617;0.9;0.9;0.798	T	0.74583	-0.3617	10	0.87932	D	0	.	12.5529	0.56236	0.0:0.0:0.7251:0.2749	.	423;423;423;423	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	W	423	ENSP00000369960:R423W;ENSP00000369956:R423W;ENSP00000430793:R423W;ENSP00000346557:R423W;ENSP00000276393:R423W;ENSP00000369947:R423W	ENSP00000276393:R423W	R	-	1	2	ADRA1A	26683717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.013000	0.49582	2.651000	0.90000	0.655000	0.94253	CGG		0.507	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		42	626	0	0	0	0.098360	0	42	626				
WDR17	116966	broad.mit.edu	37	4	177100634	177100634	+	Silent	SNP	C	C	T	rs142280699	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:177100634C>T	ENST00000280190.4	+	31	4029	c.3873C>T	c.(3871-3873)gaC>gaT	p.D1291D	WDR17_ENST00000507824.2_Silent_p.D1266D|WDR17_ENST00000508596.1_Silent_p.D1252D|WDR17_ENST00000393643.2_Silent_p.D1267D			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1291										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCCTTGAAGACGGGAAATCTG	0.393													C|||	5	0.000998403	0.003	0.0014	5008	,	,		12223	0.0		0.0	False		,,,				2504	0.0					ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3799-3801)gaC>gaT		WD repeat domain 17		C	,	26,4380	32.6+/-62.9	0,26,2177	141.0	128.0	132.0		3873,3756	-1.0	1.0	4	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WDR17	NM_170710.4,NM_181265.3	,	0,26,6477	TT,TC,CC		0.0,0.5901,0.1999	,	1291/1323,1252/1284	177100634	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177100634C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3873C>T	4.37:g.177100634C>T						WDR17_ENST00000507824.2_Silent_p.D1266D|WDR17_ENST00000280190.4_Silent_p.D1291D|WDR17_ENST00000508596.1_Silent_p.D1252D	p.D1267D	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	30	4053	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1291					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.3801C>T	CCDS3825.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	7.732	0.699432	0.15106	0.005901	0.0	ENSG00000150627	ENST00000443118	.	.	.	5.51	-0.995	0.10222	.	.	.	.	.	T	0.49355	0.1552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51601	-0.8685	4	.	.	.	-22.5728	10.9129	0.47118	0.0:0.2665:0.0:0.7335	.	.	.	.	W	526	.	.	R	+	1	2	WDR17	177337628	0.960000	0.32886	0.997000	0.53966	0.928000	0.56348	0.052000	0.14163	-0.080000	0.12685	-1.099000	0.02127	CGG		0.393	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			16	506	0	0	0	0.132662	0	16	506				
CCT8	10694	broad.mit.edu	37	21	30435800	30435800	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:30435800C>T	ENST00000286788.4	-	8	1020	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	CCT8_ENST00000540844.1_Missense_Mutation_p.E199K|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.E253K	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	272					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGGTTTTCTTCTCCCTTACTA	0.398																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(814-816)Gaa>Aaa		chaperonin containing TCP1, subunit 8 (theta)							119.0	115.0	116.0					21																	30435800		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30435800C>T	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.814G>A	21.37:g.30435800C>T	ENSP00000286788:p.Glu272Lys					CCT8_ENST00000542732.1_Missense_Mutation_p.E253K|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.E199K	p.E272K	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			8	1020	-			272					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.814G>A	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441208	0.96187	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.77229	-1.08;-1.08;-1.08	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91369	0.7277	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.975;0.993;0.989;0.999	D	0.92797	0.6253	10	0.87932	D	0	-26.8816	19.7634	0.96333	0.0:1.0:0.0:0.0	.	199;253;272;271;272	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	K	271;272;253;199	ENSP00000286788:E272K;ENSP00000444984:E253K;ENSP00000442730:E199K	ENSP00000286788:E272K	E	-	1	0	CCT8	29357671	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.368000	0.79567	2.747000	0.94245	0.460000	0.39030	GAA		0.398	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			6	428	0	0	0	0.021553	0	6	428				
TNRC6C	57690	broad.mit.edu	37	17	76047044	76047044	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:76047044C>T	ENST00000588061.1	+	5	2628	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	TNRC6C_ENST00000335749.4_Missense_Mutation_p.T634M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T634M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T634M			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	634	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGACACCACGAGATCTGGG	0.507																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1900-1902)aCg>aTg		trinucleotide repeat containing 6C							57.0	59.0	58.0					17																	76047044		1970	4154	6124	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047044C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1901C>T	17.37:g.76047044C>T	ENSP00000468647:p.Thr634Met					TNRC6C_ENST00000301624.4_Missense_Mutation_p.T634M|TNRC6C_ENST00000588061.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T634M	p.T634M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2470	+			634			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1901C>T	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	2.500	-0.315457	0.05422	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14893	2.47;2.49;2.49;2.47	6.08	6.08	0.98989	.	0.938760	0.09181	N	0.837386	T	0.27063	0.0663	L	0.36672	1.1	0.09310	N	1	P;P;P	0.48834	0.914;0.914;0.916	P;P;B	0.47470	0.548;0.548;0.346	T	0.42068	-0.9473	10	0.52906	T	0.07	1.6426	20.6634	0.99662	0.0:1.0:0.0:0.0	.	634;634;634	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	M	634	ENSP00000336783:T634M;ENSP00000301624:T634M;ENSP00000440310:T634M;ENSP00000442421:T634M	ENSP00000301624:T634M	T	+	2	0	TNRC6C	73558639	0.170000	0.23016	0.015000	0.15790	0.020000	0.10135	4.468000	0.60162	2.894000	0.99253	0.655000	0.94253	ACG		0.507	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		9	270	0	0	0	0.047766	0	9	270				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	259	0	0	0	0.038147	0	5	259				
KCNT1	57582	broad.mit.edu	37	9	138683989	138683989	+	Silent	SNP	C	C	T	rs141521745	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138683989C>T	ENST00000263604.3	+	31	3675	c.3675C>T	c.(3673-3675)cgC>cgT	p.R1225R	KCNT1_ENST00000491806.2_Silent_p.R1216R|KCNT1_ENST00000298480.5_Silent_p.R1251R|KCNT1_ENST00000488444.2_Silent_p.R1230R|KCNT1_ENST00000486577.2_Silent_p.R1208R|KCNT1_ENST00000371757.2_Silent_p.R1230R|KCNT1_ENST00000490355.2_Silent_p.R1229R|KCNT1_ENST00000487664.1_Silent_p.R1206R			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1225					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)		CCGAGACTCGCGACGAGACAC	0.667													C|||	8	0.00159744	0.0061	0.0	5008	,	,		16358	0.0		0.0	False		,,,				2504	0.0					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.(3751-3753)cgC>cgT		potassium channel, subfamily T, member 1		C		38,4364	37.6+/-69.7	0,38,2163	29.0	29.0	29.0		3690	-9.5	0.0	9	dbSNP_134	29	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNT1	NM_020822.2		0,40,6461	TT,TC,CC		0.0233,0.8632,0.3076		1230/1236	138683989	40,12962	2201	4300	6501	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138683989C>T	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.3675C>T	9.37:g.138683989C>T						KCNT1_ENST00000371757.2_Silent_p.R1230R|KCNT1_ENST00000491806.2_Silent_p.R1216R|KCNT1_ENST00000490355.2_Silent_p.R1229R|KCNT1_ENST00000488444.2_Silent_p.R1230R|KCNT1_ENST00000487664.1_Silent_p.R1206R|KCNT1_ENST00000486577.2_Silent_p.R1208R|KCNT1_ENST00000263604.3_Silent_p.R1225R	p.R1251R			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	32	3827	+		Myeloproliferative disorder(178;0.0821)	1230					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.3753C>T																																																																																					0.667	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		12	112	0	0	0	0.093190	0	12	112				
FBN1	2200	broad.mit.edu	37	15	48780430	48780430	+	Missense_Mutation	SNP	C	C	T	rs137854478		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:48780430C>T	ENST00000316623.5	-	27	3672	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1073	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		E -> K (in MFS; severe neonatal; dbSNP:rs137854478). {ECO:0000269|PubMed:7611299, ECO:0000269|PubMed:8882780}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGCGGCATTCGTCAATGTCT	0.453																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM950442	FBN1	M	rs137854478	c.(3217-3219)Gaa>Aaa		fibrillin 1							63.0	57.0	59.0					15																	48780430		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48780430C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3217G>A	15.37:g.48780430C>T	ENSP00000325527:p.Glu1073Lys						p.E1073K	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	27	3672	-		all_lung(180;0.00279)	1073		E -> K (in MFS; severe neonatal).	EGF-like 16; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3217G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.205789	0.97376	.	.	ENSG00000166147	ENST00000316623	D	0.98849	-5.18	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99208	1.0875	10	0.87932	D	0	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	1073	P35555	FBN1_HUMAN	K	1073	ENSP00000325527:E1073K	ENSP00000325527:E1073K	E	-	1	0	FBN1	46567722	1.000000	0.71417	0.977000	0.42913	0.969000	0.65631	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			31	296	0	0	0	0.134883	0	31	296				
IGFBP4	3487	broad.mit.edu	37	17	38612726	38612726	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:38612726G>A	ENST00000269593.4	+	4	943	c.668G>A	c.(667-669)cGt>cAt	p.R223H	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R123H	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	223	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATGGGCAGCGTGGCAAGTGC	0.627																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(667-669)cGt>cAt		insulin-like growth factor binding protein 4							54.0	57.0	56.0					17																	38612726		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38612726G>A	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.668G>A	17.37:g.38612726G>A	ENSP00000269593:p.Arg223His					IGFBP4_ENST00000542955.1_Missense_Mutation_p.R123H	p.R223H	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		4	943	+		Breast(137;0.000496)	223			Thyroglobulin type-1.		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.668G>A	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045947	0.93685	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.65364	-0.15;-0.15	5.43	5.43	0.79202	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	M	0.80422	2.495	0.48395	D	0.999646	D	0.89917	1.0	D	0.97110	1.0	T	0.83160	-0.0099	10	0.87932	D	0	-17.5412	17.0572	0.86537	0.0:0.0:1.0:0.0	.	223	P22692	IBP4_HUMAN	H	123;223	ENSP00000437734:R123H;ENSP00000269593:R223H	ENSP00000269593:R223H	R	+	2	0	IGFBP4	35866252	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	8.449000	0.90337	2.546000	0.85860	0.655000	0.94253	CGT		0.627	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		9	443	0	0	0	0.069234	0	9	443				
ABLIM2	84448	broad.mit.edu	37	4	8021973	8021973	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:8021973G>A	ENST00000341937.5	-	12	1290	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000361581.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P409L|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000296372.8_Missense_Mutation_p.P409L|ABLIM2_ENST00000546334.1_Intron|RP11-338K13.1_ENST00000608962.1_RNA|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P442L	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	409					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGTGGAGGGGGGCGGCTTGCT	0.632																																						ENST00000296372.8																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(1225-1227)cCc>cTc		actin binding LIM protein family, member 2							33.0	38.0	37.0					4																	8021973		1568	3582	5150	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8021973G>A	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1226C>T	4.37:g.8021973G>A	ENSP00000342813:p.Pro409Leu					ABLIM2_ENST00000361581.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P442L|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P409L|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000514025.1_Intron	p.P409L			Q6H8Q1	ABLM2_HUMAN			12	1368	-			409					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.1226C>T	CCDS47013.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.79|14.79|14.79	2.639549|2.639549|2.639549	0.47153|0.47153|0.47153	.|.|.	.|.|.	ENSG00000163995|ENSG00000163995|ENSG00000163995	ENST00000400045|ENST00000296372;ENST00000545242;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000510277|ENST00000400045	.|T;T;T;T;T;T|.	.|0.41400|.	.|1.0;1.0;1.0;1.0;1.0;1.0|.	4.88|4.88|4.88	4.88|4.88|4.88	0.63580|0.63580|0.63580	.|.|.	.|0.760924|0.760924	.|0.12252|0.12252	.|N|N	.|0.485554|0.485554	.|T|T	.|0.66218|0.66218	.|0.2767|0.2767	L|L|L	0.53561|0.53561|0.53561	1.675|1.675|1.675	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;B;D;D|.	.|0.63046|.	.|0.958;0.0;0.992;0.971|.	.|D;B;P;P|.	.|0.66847|.	.|0.947;0.003;0.813;0.887|.	.|T|T	.|0.57400|0.57400	.|-0.7818|-0.7818	.|10|7	.|0.17369|0.11182	.|T|T	.|0.5|0.66	.|.|.	16.2207|16.2207|16.2207	0.82257|0.82257|0.82257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|409;409;409;442|.	.|Q6H8Q1-2;Q6H8Q1;Q6H8Q1-5;E9PF39|.	.|.;ABLM2_HUMAN;.;.|.	.|L|S	-1|409;409;442;409;409;210|442	.|ENSP00000296372:P409L;ENSP00000441255:P409L;ENSP00000393511:P442L;ENSP00000342813:P409L;ENSP00000355003:P409L;ENSP00000421718:P210L|.	.|ENSP00000296372:P409L|ENSP00000382920:P442S	.|P|P	-|-|-	.|2|1	.|0|0	ABLIM2|ABLIM2|ABLIM2	8072873|8072873|8072873	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.546000|0.546000|0.546000	0.28166|0.28166|0.28166	0.841000|0.841000|0.841000	0.47740|0.47740|0.47740	8.570000|8.570000|8.570000	0.90748|0.90748|0.90748	2.247000|2.247000|2.247000	0.74100|0.74100|0.74100	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	.|CCC|CCC		0.632	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		6	207	0	0	0	0.038147	0	6	207				
FMO2	2327	broad.mit.edu	37	1	171174741	171174741	+	Missense_Mutation	SNP	T	T	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:171174741T>A	ENST00000209929.7	+	7	1309	c.1151T>A	c.(1150-1152)cTt>cAt	p.L384H	FMO2_ENST00000441535.1_Missense_Mutation_p.L384H|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	383					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGCTGAACTTCAAGCTCGT	0.453																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(1150-1152)cTt>cAt		flavin containing monooxygenase 2 (non-functional)							49.0	48.0	48.0					1																	171174741		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171174741T>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1151T>A	1.37:g.171174741T>A	ENSP00000209929:p.Leu384His					RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Missense_Mutation_p.L384H|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA	p.L384H	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			7	1268	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		384					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.1151T>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.823165	0.90873	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.59906	0.23;0.23	5.55	5.55	0.83447	.	0.049545	0.85682	D	0.000000	T	0.81093	0.4751	H	0.97186	3.955	0.46028	D	0.998827	D	0.71674	0.998	D	0.72982	0.979	D	0.87636	0.2519	10	0.87932	D	0	-26.2088	14.9772	0.71283	0.0:0.0:0.0:1.0	.	384	Q99518	FMO2_HUMAN	H	384	ENSP00000209929:L384H;ENSP00000405905:L384H	ENSP00000209929:L384H	L	+	2	0	FMO2	169441365	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	7.986000	0.88173	2.234000	0.73211	0.533000	0.62120	CTT		0.453	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		12	218	0	0	0	0.080935	0	12	218				
SETD2	29072	broad.mit.edu	37	3	47125634	47125634	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:47125634C>T	ENST00000409792.3	-	12	5678	c.5636G>A	c.(5635-5637)cGc>cAc	p.R1879H	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1879					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCAGTCTGCGAAACATTAG	0.443			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5635-5637)cGc>cAc		SET domain containing 2							183.0	177.0	179.0					3																	47125634		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125634C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5636G>A	3.37:g.47125634C>T	ENSP00000386759:p.Arg1879His						p.R1879H	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5678	-		Acute lymphoblastic leukemia(5;0.0169)	1879					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.5636G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199606	0.79015	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24350	1.86	5.29	4.41	0.53225	.	0.000000	0.56097	D	0.000026	T	0.46034	0.1372	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.47995	-0.9073	10	0.72032	D	0.01	.	16.2841	0.82710	0.0:0.8673:0.1327:0.0	.	1879;1879	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1879	ENSP00000386759:R1879H	ENSP00000386759:R1879H	R	-	2	0	SETD2	47100638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.523000	0.60545	1.339000	0.45563	0.650000	0.86243	CGC		0.443	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		35	895	0	0	0	0.173368	0	35	895				
LRTM2	654429	broad.mit.edu	37	12	1943539	1943539	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:1943539C>T	ENST00000543818.1	+	5	1607	c.765C>T	c.(763-765)gaC>gaT	p.D255D	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000299194.1_Silent_p.D255D|LRTM2_ENST00000535041.1_Silent_p.D255D|LRTM2_ENST00000543730.1_3'UTR	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	255						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AGCTGGAGGACGAGAATAGCT	0.637																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(763-765)gaC>gaT		leucine-rich repeats and transmembrane domains 2							55.0	44.0	48.0					12																	1943539		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr12:1943539C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.765C>T	12.37:g.1943539C>T						LRTM2_ENST00000299194.1_Silent_p.D255D|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.D255D	p.D255D	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1607	+	Ovarian(42;0.107)		255					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.765C>T	CCDS31726.1																																																																																				0.637	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			23	237	0	0	0	0.069288	0	23	237				
ARID4B	51742	broad.mit.edu	37	1	235377172	235377172	+	Missense_Mutation	SNP	G	G	T	rs141973838		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:235377172G>T	ENST00000264183.3	-	17	2250	c.1753C>A	c.(1753-1755)Caa>Aaa	p.Q585K	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.Q585K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	585					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q585K(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACATTTTTTGATTTTTCCCT	0.423																																						ENST00000264183.3																			1	Substitution - Missense(1)	p.Q585K(1)	endometrium(1)	NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1753-1755)Caa>Aaa		AT rich interactive domain 4B (RBP1-like)		G	LYS/GLN,LYS/GLN,	0,4406		0,0,2203	285.0	272.0	276.0		1753,1753,	5.5	1.0	1	dbSNP_134	276	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	ARID4B	NM_001206794.1,NM_016374.5,NM_031371.3	53,53,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,	585/1313,585/1313,	235377172	1,13005	2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377172G>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1753C>A	1.37:g.235377172G>T	ENSP00000264183:p.Gln585Lys					ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.Q585K	p.Q585K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2250	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	585					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.1753C>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927324	0.92389	0.0	1.16E-4	ENSG00000054267	ENST00000391856;ENST00000366603;ENST00000264183;ENST00000439834	T;T	0.24151	1.87;1.87	5.5	5.5	0.81552	Chromo domain-like (1);Chromo domain/shadow (1);Tudor domain (1);	0.074065	0.56097	D	0.000023	T	0.38161	0.1030	L	0.33093	0.98	0.58432	D	0.999994	D;D	0.67145	0.996;0.983	P;P	0.59056	0.851;0.824	T	0.04229	-1.0967	10	0.42905	T	0.14	-18.0014	19.403	0.94639	0.0:0.0:1.0:0.0	.	266;585	Q4LE39-4;Q4LE39	.;ARI4B_HUMAN	K	585	ENSP00000355562:Q585K;ENSP00000264183:Q585K	ENSP00000264183:Q585K	Q	-	1	0	ARID4B	233443795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.589000	0.87451	0.650000	0.86243	CAA		0.423	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		8	891	1	0	0.0135373	0.093190	0.0137864	8	891				
OR2J3	442186	broad.mit.edu	37	6	29080438	29080438	+	Silent	SNP	G	G	A	rs556178725	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:29080438G>A	ENST00000377169.1	+	1	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTTCATTCCGGCCATGTGCA	0.458													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21499	0.0		0.0	False		,,,				2504	0.001					ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(769-771)ccG>ccA		olfactory receptor, family 2, subfamily J, member 3							112.0	112.0	112.0					6																	29080438		1246	2560	3806	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080438G>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.771G>A	6.37:g.29080438G>A							p.P257P	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	771	+			257					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.771G>A	CCDS43433.1																																																																																				0.458	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			52	397	0	0	0	0.139131	0	52	397				
USH1C	10083	broad.mit.edu	37	11	17531093	17531093	+	Intron	SNP	G	G	A	rs41282932	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:17531093G>A	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.P608L|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AACGGATGGCGGGGGAGGGAT	0.662																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48	GRCh37	CM024262	ush1cpst	M	rs41282932	c.(1822-1824)cCg>cTg		Usher syndrome 1C (autosomal recessive, severe)							20.0	22.0	21.0					11																	17531093		2200	4292	6492	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17531093G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7566C>T	11.37:g.17531093G>A						USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron	p.P608L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1822	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1823C>T	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462832	0.63513	.	.	ENSG00000006611	ENST00000005226	T	0.41065	1.01	5.84	5.84	0.93424	.	0.114258	0.64402	D	0.000012	T	0.41789	0.1174	.	.	.	0.51482	D	0.999926	D	0.63880	0.993	P	0.50136	0.632	T	0.07868	-1.0750	9	0.11485	T	0.65	.	17.0503	0.86517	0.0:0.0:1.0:0.0	.	608	Q7RTU8	.	L	608	ENSP00000005226:P608L	ENSP00000005226:P608L	P	-	2	0	USH1C	17487669	1.000000	0.71417	0.928000	0.36995	0.478000	0.33099	5.675000	0.68123	2.767000	0.95098	0.591000	0.81541	CCG		0.662	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		3	99	0	0	0	0.115264	0	3	99				
DHX30	22907	broad.mit.edu	37	3	47888007	47888007	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:47888007C>T	ENST00000445061.1	+	11	1852	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	DHX30_ENST00000457607.1_Missense_Mutation_p.A510V|DHX30_ENST00000348968.4_Missense_Mutation_p.A454V|DHX30_ENST00000446256.2_Missense_Mutation_p.A443V	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	482	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGCCGAGGTGCCCGCTGCAAT	0.652																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1327-1329)gCc>gTc		DEAH (Asp-Glu-Ala-His) box helicase 30							81.0	84.0	83.0					3																	47888007		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888007C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1445C>T	3.37:g.47888007C>T	ENSP00000405620:p.Ala482Val					DHX30_ENST00000457607.1_Missense_Mutation_p.A510V|DHX30_ENST00000445061.1_Missense_Mutation_p.A482V|DHX30_ENST00000348968.4_Missense_Mutation_p.A454V	p.A443V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	12	1900	+			482					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1328C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674700	0.88445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.08	4.2	0.49525	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.17066	0.0410	L	0.33710	1.025	0.58432	D	0.999999	D;D	0.71674	0.998;0.984	D;P	0.66602	0.945;0.863	T	0.00901	-1.1521	10	0.87932	D	0	.	12.5915	0.56445	0.0:0.9198:0.0:0.0802	.	482;443	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	V	443;482;454;510	ENSP00000392601:A443V;ENSP00000405620:A482V;ENSP00000343442:A454V;ENSP00000394682:A510V	ENSP00000343442:A454V	A	+	2	0	DHX30	47863011	1.000000	0.71417	0.561000	0.28357	0.995000	0.86356	6.007000	0.70731	1.135000	0.42183	0.655000	0.94253	GCC		0.652	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		8	755	0	0	0	0.047766	0	8	755				
SOX8	30812	broad.mit.edu	37	16	1035280	1035280	+	Missense_Mutation	SNP	G	G	A	rs559279447		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:1035280G>A	ENST00000293894.3	+	3	1350	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	412					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CACTCGCCGCGCCGGCCCTAC	0.692																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(1234-1236)cGc>cAc		SRY (sex determining region Y)-box 8							19.0	20.0	20.0					16																	1035280		2197	4291	6488	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035280G>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.1235G>A	16.37:g.1035280G>A	ENSP00000293894:p.Arg412His						p.R412H	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			3	1350	+		Hepatocellular(780;0.00308)	412					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.1235G>A	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166989	0.57476	.	.	ENSG00000005513	ENST00000293894	D	0.84070	-1.8	4.31	4.31	0.51392	.	0.052428	0.85682	D	0.000000	D	0.90407	0.6997	M	0.79805	2.47	0.49483	D	0.999798	D	0.89917	1.0	D	0.64410	0.925	D	0.92120	0.5703	10	0.87932	D	0	.	16.0175	0.80455	0.0:0.0:1.0:0.0	.	412	P57073	SOX8_HUMAN	H	412	ENSP00000293894:R412H	ENSP00000293894:R412H	R	+	2	0	SOX8	975281	0.999000	0.42202	0.924000	0.36721	0.850000	0.48378	4.362000	0.59467	2.246000	0.74042	0.650000	0.86243	CGC		0.692	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			23	137	0	0	0	0.069288	0	23	137				
SEMA6C	10500	broad.mit.edu	37	1	151112146	151112146	+	Missense_Mutation	SNP	C	C	T	rs143410634		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:151112146C>T	ENST00000341697.3	-	5	1956	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	89	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTTCTTCTTCGGCTTGAAGA	0.572																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(265-267)Gaa>Aaa		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	54.0	52.0	53.0		265,265,265	4.1	1.0	1	dbSNP_134	53	0,8600		0,0,4300	no	missense,missense,missense	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	89/963,89/923,89/931	151112146	1,13005	2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151112146C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.265G>A	1.37:g.151112146C>T	ENSP00000344148:p.Glu89Lys						p.E89K			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	1956	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		89			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.265G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279612	0.40294	2.27E-4	0.0	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.99	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.461168	0.23296	N	0.049733	T	0.02380	0.0073	N	0.14661	0.345	0.21416	N	0.999699	B;B;B;B	0.27286	0.174;0.004;0.002;0.003	B;B;B;B	0.29942	0.109;0.006;0.002;0.003	T	0.42068	-0.9473	10	0.31617	T	0.26	.	11.4869	0.50358	0.0:0.1812:0.8188:0.0	.	89;89;89;89	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	K	89	ENSP00000357910:E89K;ENSP00000357908:E89K;ENSP00000357909:E89K;ENSP00000344148:E89K	ENSP00000344148:E89K	E	-	1	0	SEMA6C	149378770	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.022000	0.41030	1.354000	0.45846	-0.228000	0.12330	GAA		0.572	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		9	231	0	0	0	0.058154	0	9	231				
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																						ENST00000342988.3																			43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963	c.(1081-1083)Cgc>Tgc		SMAD family member 4							179.0	149.0	159.0					18																	48591918		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591918C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1619	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1081C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		35	333	0	0	0	0.173368	0	35	333				
RSBN1L	222194	broad.mit.edu	37	7	77379157	77379157	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:77379157C>T	ENST00000334955.8	+	3	1147	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	RSBN1L_ENST00000445288.1_Missense_Mutation_p.P104S	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	374						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACCTGTCTCCTATGGAGAT	0.453																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1120-1122)Cct>Tct		round spermatid basic protein 1-like							119.0	112.0	114.0					7																	77379157		1875	4110	5985	SO:0001583	missense	222194					nucleus		g.chr7:77379157C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1120C>T	7.37:g.77379157C>T	ENSP00000334040:p.Pro374Ser					RSBN1L_ENST00000445288.1_Missense_Mutation_p.P104S	p.P374S	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN			3	1147	+			374					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.1120C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595110	0.66219	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.95	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	M	0.68317	2.08	0.51233	D	0.999919	P	0.51057	0.941	D	0.63703	0.917	T	0.73946	-0.3822	9	0.42905	T	0.14	-11.5637	15.5679	0.76309	0.0:0.9331:0.0:0.0669	.	374	Q6PCB5	RSBNL_HUMAN	S	374;104	.	ENSP00000334040:P374S	P	+	1	0	RSBN1L	77217093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.981000	0.56902	2.824000	0.97209	0.655000	0.94253	CCT		0.453	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		74	623	0	0	0	0.139131	0	74	623				
PRICKLE2	166336	broad.mit.edu	37	3	64085557	64085557	+	Nonsense_Mutation	SNP	G	G	A	rs557364621		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:64085557G>A	ENST00000295902.6	-	8	2290	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R625*|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	569					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATGGAAAATCGGGATAGGTGC	0.537																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1705-1707)Cga>Tga		prickle homolog 2 (Drosophila)							129.0	133.0	132.0					3																	64085557		2203	4300	6503	SO:0001587	stop_gained	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085557G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1705C>T	3.37:g.64085557G>A	ENSP00000295902:p.Arg569*					PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R625*|PRICKLE2-AS1_ENST00000460946.1_RNA	p.R569*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2290	-		Lung NSC(201;0.136)	569					Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	c.1705C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	44	10.812074	0.99471	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.8692	15.9644	0.79956	0.0:0.0:0.8647:0.1353	.	.	.	.	X	569	.	ENSP00000295902:R569X	R	-	1	2	PRICKLE2	64060597	1.000000	0.71417	0.792000	0.32020	0.980000	0.70556	2.489000	0.45285	2.655000	0.90218	0.591000	0.81541	CGA		0.537	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		68	718	0	0	0	0.139131	0	68	718				
C21orf2	755	broad.mit.edu	37	21	45753013	45753013	+	Silent	SNP	C	C	T	rs374507502		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:45753013C>T	ENST00000339818.4	-	4	483	c.276G>A	c.(274-276)ctG>ctA	p.L92L	AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Silent_p.L92L|C21orf2_ENST00000325223.7_Silent_p.L92L|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	92					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		CGGCCAGCCACAGCACCCGCA	0.687																																						ENST00000339818.4																			0				endometrium(2)	2						c.(274-276)ctG>ctA		chromosome 21 open reading frame 2		C		0,4380		0,0,2190	15.0	17.0	16.0		276	-3.2	0.9	21		16	1,8529		0,1,4264	no	coding-synonymous	C21orf2	NM_004928.2		0,1,6454	TT,TC,CC		0.0117,0.0,0.0077		92/257	45753013	1,12909	2190	4265	6455	SO:0001819	synonymous_variant	755							g.chr21:45753013C>T	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"""nuclear encoded mitochondrial protein"", ""leucine rich repeat containing 76"""	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.276G>A	21.37:g.45753013C>T						C21orf2_ENST00000325223.7_Silent_p.L92L|C21orf2_ENST00000397956.3_Silent_p.L92L|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000496321.1_5'UTR	p.L92L	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN		Colorectal(79;0.0806)	4	483	-			92					A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Silent	SNP	ENST00000339818.4	37	c.276G>A	CCDS13709.1																																																																																				0.687	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		12	107	0	0	0	0.105934	0	12	107				
LCN1	3933	broad.mit.edu	37	9	138413373	138413373	+	Silent	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138413373T>C	ENST00000263598.2	+	1	90	c.30T>C	c.(28-30)ctT>ctC	p.L10L	LCN1_ENST00000371781.3_Silent_p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	10					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L10L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CCGTCAGCCTTGGCCTCATTG	0.667																																						ENST00000263598.2																			2	Substitution - coding silent(2)	p.L10L(2)	large_intestine(1)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(28-30)ctT>ctC		lipocalin 1																																				SO:0001819	synonymous_variant	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138413373T>C		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.30T>C	9.37:g.138413373T>C						LCN1_ENST00000371781.3_Silent_p.L10L	p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	1	90	+		Myeloproliferative disorder(178;0.0511)	10					Q5T8A1	Silent	SNP	ENST00000263598.2	37	c.30T>C	CCDS6991.1																																																																																				0.667	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		4	219	0	0	0	0.058154	0	4	219				
SPX	80763	broad.mit.edu	37	12	21680123	21680123	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:21680123G>A	ENST00000256969.2	+	3	308	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		48					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CCTGAAAGGGGCACGTAAGTT	0.458																																						ENST00000256969.2																			0				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(142-144)Gca>Aca		chromosome 12 open reading frame 39							102.0	100.0	101.0					12																	21680123		2203	4300	6503	SO:0001583	missense	80763					extracellular region|nucleus|transport vesicle		g.chr12:21680123G>A																												ENST00000256969.2:c.142G>A	12.37:g.21680123G>A	ENSP00000256969:p.Ala48Thr						p.A48T	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN			3	308	+			48					B3KND6	Missense_Mutation	SNP	ENST00000256969.2	37	c.142G>A	CCDS31757.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327122	0.60743	.	.	ENSG00000134548	ENST00000256969	.	.	.	4.58	3.68	0.42216	.	0.064058	0.64402	D	0.000006	T	0.43942	0.1270	L	0.41710	1.295	0.36257	D	0.854307	P	0.46784	0.884	B	0.43155	0.41	T	0.52830	-0.8523	9	0.36615	T	0.2	-0.8569	11.4113	0.49927	0.0904:0.0:0.9096:0.0	.	48	Q9BT56	SPXN_HUMAN	T	48	.	ENSP00000256969:A48T	A	+	1	0	C12orf39	21571390	0.998000	0.40836	0.988000	0.46212	0.857000	0.48899	3.023000	0.49666	2.530000	0.85305	0.591000	0.81541	GCA		0.458	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1			18	443	0	0	0	0.175082	0	18	443				
CHRNA1	1134	broad.mit.edu	37	2	175619033	175619033	+	Missense_Mutation	SNP	C	C	T	rs137852807		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:175619033C>T	ENST00000261007.5	-	6	595	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	CHRNA1_ENST00000409323.1_Missense_Mutation_p.V152I|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V152I|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V152I|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	177			V -> L (in FCCMS; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2- fold decrease in gating efficiency). {ECO:0000269|PubMed:12588888}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	AAGTGGGTGACGATGATCTCA	0.527																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37	GRCh37	CM030009	CHRNA1	M	rs137852807	c.(454-456)Gtc>Atc		cholinergic receptor, nicotinic, alpha 1 (muscle)							169.0	146.0	154.0					2																	175619033		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175619033C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.529G>A	2.37:g.175619033C>T	ENSP00000261007:p.Val177Ile					CHRNA1_ENST00000409323.1_Missense_Mutation_p.V152I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V177I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V152I	p.V152I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			5	531	-			177					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.454G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409412	0.96072	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409219;ENST00000409323	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.78	5.78	0.91487	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88343	0.6411	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.967;0.971;0.999	D	0.84898	0.0840	10	0.31617	T	0.26	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	152;152;177	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	152;177;152;152	ENSP00000261008:V152I;ENSP00000261007:V177I;ENSP00000386611:V152I;ENSP00000386684:V152I	ENSP00000261007:V177I	V	-	1	0	CHRNA1	175327279	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GTC		0.527	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			22	386	0	0	0	0.076483	0	22	386				
GLT6D1	360203	broad.mit.edu	37	9	138516228	138516228	+	Silent	SNP	G	G	A	rs199994242	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138516228G>A	ENST00000371763.1	-	5	799	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	182					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TCTCCACCCCGAACTCATTCT	0.577													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16611	0.001		0.0	False		,,,				2504	0.0					ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(544-546)ttC>ttT		glycosyltransferase 6 domain containing 1							51.0	52.0	52.0					9																	138516228		1939	4123	6062	SO:0001819	synonymous_variant	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516228G>A	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.546C>T	9.37:g.138516228G>A							p.F182F	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	799	-		Myeloproliferative disorder(178;0.0821)	182						Silent	SNP	ENST00000371763.1	37	c.546C>T	CCDS43900.1																																																																																				0.577	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		31	366	0	0	0	0.153744	0	31	366				
C5orf49	134121	broad.mit.edu	37	5	7835544	7835544	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:7835544C>T	ENST00000399810.2	-	2	683	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	C5orf49_ENST00000509627.1_Missense_Mutation_p.R72Q	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	72										large_intestine(3)|lung(5)|skin(1)	9						TCTGTCATCTCGGTGCAACTT	0.353																																						ENST00000399810.2																			0				large_intestine(3)|lung(5)|skin(1)	9						c.(214-216)cGa>cAa		chromosome 5 open reading frame 49							138.0	132.0	134.0					5																	7835544		1824	4087	5911	SO:0001583	missense	134121							g.chr5:7835544C>T		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.215G>A	5.37:g.7835544C>T	ENSP00000382708:p.Arg72Gln					C5orf49_ENST00000509627.1_Missense_Mutation_p.R72Q	p.R72Q	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN			2	683	-			72						Missense_Mutation	SNP	ENST00000399810.2	37	c.215G>A	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897071	0.91962	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.52754	0.65;0.65	4.95	4.95	0.65309	.	.	.	.	.	T	0.67534	0.2903	M	0.69823	2.125	0.44880	D	0.997896	D	0.89917	1.0	D	0.81914	0.995	T	0.71371	-0.4613	9	0.87932	D	0	-14.3012	15.5014	0.75700	0.0:1.0:0.0:0.0	.	72	A4QMS7	CE049_HUMAN	Q	72	ENSP00000382708:R72Q;ENSP00000426019:R72Q	ENSP00000382708:R72Q	R	-	2	0	C5orf49	7888544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.054000	0.64275	2.467000	0.83353	0.561000	0.74099	CGA		0.353	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		89	604	0	0	0	0.139131	0	89	604				
SLIT3	6586	broad.mit.edu	37	5	168244314	168244314	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:168244314C>T	ENST00000519560.1	-	8	1203	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	SLIT3_ENST00000404867.3_Missense_Mutation_p.V262M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V262M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	262	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGGGCACACGTACTCCTTC	0.572																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(784-786)Gtg>Atg		slit homolog 3 (Drosophila)							98.0	88.0	92.0					5																	168244314		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168244314C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.784G>A	5.37:g.168244314C>T	ENSP00000430333:p.Val262Met					SLIT3_ENST00000404867.3_Missense_Mutation_p.V262M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V262M	p.V262M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1203	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	262			LRRCT 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.784G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476454	0.63737	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76709	-1.04;-1.04;-1.03	5.25	3.48	0.39840	Cysteine-rich flanking region, C-terminal (2);	0.170945	0.50627	D	0.000106	D	0.82765	0.5108	L	0.48362	1.52	0.50813	D	0.999892	D;P;P	0.89917	1.0;0.884;0.615	D;B;B	0.83275	0.996;0.301;0.219	T	0.81324	-0.0984	10	0.49607	T	0.09	.	11.7081	0.51610	0.0:0.8561:0.0:0.1439	.	262;262;262	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	M	262	ENSP00000430333:V262M;ENSP00000332164:V262M;ENSP00000384890:V262M	ENSP00000332164:V262M	V	-	1	0	SLIT3	168176892	0.572000	0.26668	0.984000	0.44739	0.910000	0.53928	1.726000	0.38085	0.610000	0.30035	0.462000	0.41574	GTG		0.572	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		18	235	0	0	0	0.160694	0	18	235				
SRP72	6731	broad.mit.edu	37	4	57333839	57333839	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:57333839C>G	ENST00000342756.5	+	1	759	c.38C>G	c.(37-39)gCg>gGg	p.A13G	SRP72_ENST00000510663.1_Missense_Mutation_p.A13G|SRP72_ENST00000504757.1_Missense_Mutation_p.A13G	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TCAGTACCTGCGCTGTGGAGT	0.667																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(37-39)gCg>gGg		signal recognition particle 72kDa							21.0	22.0	21.0					4																	57333839		2203	4299	6502	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57333839C>G	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.38C>G	4.37:g.57333839C>G	ENSP00000342181:p.Ala13Gly					SRP72_ENST00000510663.1_Missense_Mutation_p.A13G|SRP72_ENST00000504757.1_Missense_Mutation_p.A13G	p.A13G	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			1	759	+	Glioma(25;0.08)|all_neural(26;0.101)		13					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.38C>G	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188841	0.78789	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.41065	1.01;1.01	5.55	5.55	0.83447	Tetratricopeptide repeat-containing (1);	0.064408	0.64402	D	0.000005	T	0.38558	0.1045	L	0.58669	1.825	0.54753	D	0.999989	B;P	0.35944	0.063;0.529	B;B	0.31869	0.075;0.137	T	0.17653	-1.0362	10	0.25751	T	0.34	.	15.0181	0.71605	0.0:1.0:0.0:0.0	.	13;13	G5E9Z8;O76094	.;SRP72_HUMAN	G	13;19;13	ENSP00000342181:A13G;ENSP00000424576:A13G	ENSP00000342181:A13G	A	+	2	0	SRP72	57028596	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.905000	0.48727	2.590000	0.87494	0.655000	0.94253	GCG		0.667	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			16	122	0	0	0	0.146539	0	16	122				
SENP7	57337	broad.mit.edu	37	3	101177867	101177867	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:101177867G>A	ENST00000394095.2	-	4	269	c.216C>T	c.(214-216)atC>atT	p.I72I	SENP7_ENST00000358203.3_Silent_p.I39I|SENP7_ENST00000394094.2_Silent_p.I72I|Y_RNA_ENST00000364684.1_RNA|SENP7_ENST00000314261.7_Silent_p.I72I|SENP7_ENST00000348610.3_Silent_p.I39I|SENP7_ENST00000394091.1_Silent_p.I39I	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	72						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTCTAGAGAGATGACTTTAT	0.333																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(214-216)atC>atT		SUMO1/sentrin specific peptidase 7							209.0	200.0	203.0					3																	101177867		2203	4300	6503	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101177867G>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.216C>T	3.37:g.101177867G>A						SENP7_ENST00000394091.1_Silent_p.I39I|SENP7_ENST00000394094.2_Silent_p.I72I|SENP7_ENST00000348610.3_Silent_p.I39I|SENP7_ENST00000358203.3_Silent_p.I39I|SENP7_ENST00000314261.7_Silent_p.I72I	p.I72I	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			4	269	-			72					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.216C>T	CCDS2941.2																																																																																				0.333	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		26	791	0	0	0	0.099896	0	26	791				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	121	0	0	0	0.014758	0	5	121				
CCDC170	80129	broad.mit.edu	37	6	151936716	151936716	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:151936716G>A	ENST00000239374.7	+	10	1948	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K	CCDC170_ENST00000367290.5_Missense_Mutation_p.E624K|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	617																	TGAGGCTAAGGAGAATAAAGA	0.403																																						ENST00000367290.5																			0											c.(1870-1872)Gag>Aag		coiled-coil domain containing 170							152.0	147.0	148.0					6																	151936716		1854	4098	5952	SO:0001583	missense	80129							g.chr6:151936716G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1849G>A	6.37:g.151936716G>A	ENSP00000239374:p.Glu617Lys					CCDC170_ENST00000239374.7_Missense_Mutation_p.E617K	p.E624K			Q8IYT3	CF097_HUMAN			10	1959	+			617					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1870G>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060934	0.93846	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.81078	2.98;-1.45	6.16	6.16	0.99307	.	0.170822	0.50627	D	0.000106	D	0.83418	0.5250	M	0.74881	2.28	0.48901	D	0.999722	P	0.47762	0.9	P	0.50791	0.65	T	0.79895	-0.1610	10	0.31617	T	0.26	-5.2365	20.8598	0.99761	0.0:0.0:1.0:0.0	.	617	Q8IYT3	CF097_HUMAN	K	617;624	ENSP00000239374:E617K;ENSP00000356259:E624K	ENSP00000239374:E617K	E	+	1	0	C6orf97	151978409	1.000000	0.71417	0.060000	0.19600	0.952000	0.60782	7.854000	0.86942	2.937000	0.99478	0.650000	0.86243	GAG		0.403	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		34	473	0	0	0	0.173368	0	34	473				
SEC14L1	6397	broad.mit.edu	37	17	75205427	75205427	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:75205427G>A	ENST00000413679.2	+	14	1783	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	SEC14L1_ENST00000436233.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E460K|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E460K|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E494K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E494K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	494	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CTTCCAGTGCGAAGTGCCAGA	0.547																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1480-1482)Gaa>Aaa		SEC14-like 1 (S. cerevisiae)							69.0	60.0	63.0					17																	75205427		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205427G>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1480G>A	17.37:g.75205427G>A	ENSP00000394716:p.Glu494Lys					SEC14L1_ENST00000430767.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E494K|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E460K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E460K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E494K	p.E494K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			14	1783	+			494			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1480G>A	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798562	0.31777	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.045342	0.85682	D	0.000000	T	0.22704	0.0548	L	0.39397	1.21	0.58432	D	0.999999	B;B;B	0.20052	0.024;0.041;0.024	B;B;B	0.19148	0.011;0.024;0.011	T	0.07233	-1.0783	10	0.09843	T	0.71	-30.3326	18.3308	0.90268	0.0:0.0:1.0:0.0	.	494;494;494	A5PLM6;Q92503-2;Q92503	.;.;S14L1_HUMAN	K	494;494;494;494;494;460	ENSP00000376268:E494K;ENSP00000406030:E494K;ENSP00000390392:E494K;ENSP00000408169:E494K;ENSP00000394716:E494K;ENSP00000389838:E460K	ENSP00000376268:E494K	E	+	1	0	SEC14L1	72717022	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.375000	0.97178	2.553000	0.86117	0.655000	0.94253	GAA		0.547	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		6	171	0	0	0	0.029380	0	6	171				
SPATA1	100505741	broad.mit.edu	37	1	84988201	84988201	+	RNA	DEL	T	T	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:84988201delT	ENST00000370638.2	+	0	526							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GTAAGTTTTCTTTTTTTTTCT	0.323																																						ENST00000370638.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10								spermatogenesis associated 1							43.0	49.0	47.0					1																	84988201		2202	4299	6501			100505741							g.chr1:84988201delT	AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84988201delT													Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)	0	526	+								A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	DEL	ENST00000370638.2	37																																																																																						0.323	SPATA1-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000314701.1	NM_022354		7	303						7	303	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	lincRNA	INS	-	-	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317																																						ENST00000412204.2																			0																																																			0							g.chr1:143210193_143210194insT																													1.37:g.143210200_143210200dupT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	876_877	-									RNA	INS	ENST00000412204.2	37																																																																																						0.317	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			8	196						8	196	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152085461	152085462	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:152085461_152085462insA	ENST00000368804.1	-	2	230_231	c.231_232insT	c.(229-234)tttattfs	p.I78fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	78	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTTGAAAATAAATAGGAGGA	0.485																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(229-234)ttttttfs		trichohyalin																																				SO:0001589	frameshift_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085461_152085462insA	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.232dupT	1.37:g.152085464_152085464dupA	ENSP00000357794:p.Ile78fs						p.FF77fs	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	230_231	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		77			EF-hand 2.|S-100-like.		Q5VUI3	Frame_Shift_Ins	INS	ENST00000368804.1	37	c.231_232insT	CCDS41396.1																																																																																				0.485	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		11	400						11	400	---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:161202999_161203000insG	ENST00000367982.4	-	4	522_523	c.367_368insC	c.(367-369)cgcfs	p.R123fs	NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367983.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.R48fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.R123fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(367-369)ccafs		nuclear receptor subfamily 1, group I, member 3																																				SO:0001589	frameshift_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161202999_161203000insG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.368dupC	1.37:g.161203002_161203002dupG	ENSP00000356961:p.Arg123fs					NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs	p.P123fs			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	661_662	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		123					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Frame_Shift_Ins	INS	ENST00000367982.4	37	c.367_368insC	CCDS41430.1																																																																																				0.564	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			8	1430						8	1430	---	---	---	---
FLJ33534	285150	broad.mit.edu	37	2	11253059	11253066	+	lincRNA	DEL	GAAGGAAA	GAAGGAAA	-	rs10174394		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:11253059_11253066delGAAGGAAA	ENST00000396164.1	-	0	984					NR_040080.1																						ggaaggtgaggaaggaaagaaggaagta	0.505																																						ENST00000396164.1																			0																																																			0							g.chr2:11253059_11253066delGAAGGAAA																													2.37:g.11253059_11253066delGAAGGAAA								NR_040080.1						0	984	-									RNA	DEL	ENST00000396164.1	37																																																																																						0.505	AC062028.1-202	KNOWN	basic	lincRNA	lincRNA				6	8						6	8	---	---	---	---
BIN1	274	broad.mit.edu	37	2	127808793	127808794	+	Frame_Shift_Ins	INS	-	-	CCCG			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:127808793_127808794insCCCG	ENST00000316724.5	-	16	1808_1809	c.1397_1398insCGGG	c.(1396-1398)ggtfs	p.G466fs	BIN1_ENST00000393041.3_Frame_Shift_Ins_p.G348fs|BIN1_ENST00000351659.3_Frame_Shift_Ins_p.G379fs|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000346226.3_Frame_Shift_Ins_p.G391fs|BIN1_ENST00000259238.4_Frame_Shift_Ins_p.G370fs|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000409400.1_Frame_Shift_Ins_p.G312fs|BIN1_ENST00000352848.3_Frame_Shift_Ins_p.G327fs|BIN1_ENST00000393040.3_Frame_Shift_Ins_p.G355fs|BIN1_ENST00000357970.3_Frame_Shift_Ins_p.G423fs|BIN1_ENST00000348750.4_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	466					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTTGGGTCCCACCCGCCACCTC	0.639																																						ENST00000316724.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24						c.(1396-1398)gggfs		bridging integrator 1																																				SO:0001589	frameshift_variant	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127808793_127808794insCCCG	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1394_1397dupCGGG	2.37:g.127808794_127808797dupCCCG	ENSP00000316779:p.Gly466fs					BIN1_ENST00000259238.4_Frame_Shift_Ins_p.-369fs|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000409400.1_Frame_Shift_Ins_p.-311fs|BIN1_ENST00000357970.3_Frame_Shift_Ins_p.-422fs|BIN1_ENST00000351659.3_Frame_Shift_Ins_p.-378fs|BIN1_ENST00000352848.3_Frame_Shift_Ins_p.-326fs|BIN1_ENST00000393040.3_Frame_Shift_Ins_p.-354fs|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000393041.3_Frame_Shift_Ins_p.-347fs|BIN1_ENST00000346226.3_Frame_Shift_Ins_p.-390fs	p.-465fs	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	16	1808_1809	-	Colorectal(110;0.0831)							O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Frame_Shift_Ins	INS	ENST00000316724.5	37	c.1397_1398insCGGG	CCDS2138.1																																																																																				0.639	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		17	308						17	308	---	---	---	---
AC012668.2	0	broad.mit.edu	37	2	216429207	216429208	+	lincRNA	INS	-	-	TGTGTGTG	rs71047909|rs376668318|rs140967509|rs201551747	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:216429207_216429208insTGTGTGTG	ENST00000417485.2	+	0	216																											gaaatcatatttgtgtgtgtgt	0.396														2716	0.542332	0.3979	0.5231	5008	,	,		13129	0.5327		0.5239	False		,,,				2504	0.7802					ENST00000417485.2																			0																																																			0							g.chr2:216429207_216429208insTGTGTGTG																													2.37:g.216429208_216429215dupTGTGTGTG														0	216	+									RNA	INS	ENST00000417485.2	37																																																																																						0.396	AC012668.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000337311.2			2	4						2	4	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.E34del	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	13	222						13	222	---	---	---	---
RP11-454C18.1	0	broad.mit.edu	37	3	151368109	151368110	+	lincRNA	DEL	AC	AC	-	rs536978662|rs374032335|rs536484777|rs546983863	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:151368109_151368110delAC	ENST00000492731.1	+	0	268																											tactctgcagacacacacacac	0.431																																						ENST00000492731.1																			0																																																			0							g.chr3:151368109_151368110delAC																													3.37:g.151368119_151368120delAC														0	268	+									RNA	DEL	ENST00000492731.1	37																																																																																						0.431	RP11-454C18.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000357882.1			3	4						3	4	---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agcagg>agg	p.S291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCGGTTGGCCCTGCTGCTGCTGC	0.606																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(871-876)agg>ag		cholecystokinin A receptor	Ceruletide(DB00403)																																			SO:0001651	inframe_deletion	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483672_26483674delCTG	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.873_875delCAG	4.37:g.26483681_26483683delCTG	ENSP00000295589:p.Ser291del						p.SR291del	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1067_1069	-		Breast(46;0.0503)	291					B2R9Z5	In_Frame_Del	DEL	ENST00000295589.3	37	c.873_875delCAG	CCDS3438.1																																																																																				0.606	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			9	737						9	737	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						ENST00000313860.7																			2	Deletion - Frameshift(2)	p.E810fs*3(1)|p.E425fs*3(1)	ovary(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1261-1266)cggafs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648508_41648509delGA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs					LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs	p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1317_1318	+			421					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.1263_1264delGA	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		7	627						7	627	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190881950	190881952	+	In_Frame_Del	DEL	AGA	AGA	-	rs56257823		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:190881950_190881952delAGA	ENST00000226798.4	+	7	807_809	c.585_587delAGA	c.(583-588)ccagaa>cca	p.E197del	FRG1_ENST00000514482.1_Intron	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	197					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATGACATTCCAGAAGAAGACAAA	0.34																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(583-588)cca>cc		FSHD region gene 1																																				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190881950_190881952delAGA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.585_587delAGA	4.37:g.190881956_190881958delAGA	ENSP00000226798:p.Glu197del					FRG1_ENST00000514482.1_Intron	p.PE195del	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	7	807_809	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	195					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.585_587delAGA	CCDS34121.1																																																																																				0.340	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		8	227						8	227	---	---	---	---
CD14	929	broad.mit.edu	37	5	140012532	140012534	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140012532_140012534delGCA	ENST00000302014.6	-	2	664_666	c.35_37delTGC	c.(34-39)ctgccg>ccg	p.L12del	CD14_ENST00000401743.2_In_Frame_Del_p.L12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	12					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)	p.P13S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCAGCGGCAGCAGCAGCAG	0.635																																						ENST00000302014.6																			1	Substitution - Missense(1)	p.P13S(1)	endometrium(1)	endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(34-39)ccg>c		CD14 molecule																																				SO:0001651	inframe_deletion	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012532_140012534delGCA		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.35_37delTGC	5.37:g.140012541_140012543delGCA	ENSP00000304236:p.Leu12del					CD14_ENST00000401743.2_In_Frame_Del_p.LP12del	p.LP12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	664_666	-			12					Q53XT5|Q96FR6|Q96L99|Q9UNS3	In_Frame_Del	DEL	ENST00000302014.6	37	c.35_37delTGC	CCDS4232.1																																																																																				0.635	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		7	222						7	222	---	---	---	---
DAXX	1616	broad.mit.edu	37	6	33287898	33287900	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:33287898_33287900delTCC	ENST00000374542.5	-	5	1557_1559	c.1353_1355delGGA	c.(1351-1356)gaggaa>gaa	p.451_452EE>E	ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_In_Frame_Del_p.376_377EE>E|DAXX_ENST00000266000.6_In_Frame_Del_p.451_452EE>E|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ctcttcttcttcctcctcctcct	0.552			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1356)gaa>ga		death-domain associated protein																																				SO:0001651	inframe_deletion	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287898_33287900delTCC	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353_1355delGGA	6.37:g.33287907_33287909delTCC	ENSP00000363668:p.Glu457del					DAXX_ENST00000266000.6_In_Frame_Del_p.EE455del|DAXX_ENST00000414083.2_In_Frame_Del_p.EE380del|DAXX_ENST00000477162.1_5'UTR	p.EE455del	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557_1559	-			455			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	In_Frame_Del	DEL	ENST00000374542.5	37	c.1353_1355delGGA	CCDS4776.1																																																																																				0.552	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			7	284						7	284	---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23144372	23144373	+	5'Flank	INS	-	-	CAC	rs146498411|rs56049762|rs145460085	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:23144372_23144373insCAC	ENST00000339077.5	+	0	0				KLHL7_ENST00000409689.1_5'Flank|KLHL7_ENST00000542558.1_5'Flank|KLHL7_ENST00000539124.1_5'Flank|KLHL7-AS1_ENST00000419813.1_lincRNA|KLHL7_ENST00000410047.1_5'Flank|KLHL7_ENST00000322231.7_5'Flank|KLHL7_ENST00000545771.1_5'Flank|KLHL7_ENST00000322275.5_5'Flank	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7						protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						tgtgacctcttcaccaccacca	0.51														1849	0.369209	0.68	0.2997	5008	,	,		15286	0.1815		0.33	False		,,,				2504	0.2321					ENST00000419813.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr7:23144372_23144373insCAC		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813		7.37:g.23144379_23144381dupCAC	Exception_encountered							NR_046220.1						0	145	-								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	RNA	INS	ENST00000339077.5	37		CCDS34609.1																																																																																				0.510	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		6	5						6	5	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs372773235|rs146191724	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:100384030_100384033delTTGT	ENST00000348028.3	+	0	7143				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505														1390	0.277556	0.3434	0.2406	5008	,	,		19485	0.0774		0.4602	False		,,,				2504	0.2331					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100384030_100384033delTTGT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100384038_100384041delTTGT						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7124	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	6						5	6	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		7	463						7	463	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115818910	115818912	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:115818910_115818912delCTC	ENST00000374227.3	-	1	84_86	c.57_59delGAG	c.(55-60)aggaga>aga	p.19_20RR>R	ZFP37_ENST00000553380.1_In_Frame_Del_p.19_20RR>R|ZFP37_ENST00000555206.1_In_Frame_Del_p.19_20RR>R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	19					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)	p.R20K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCCGCACTTCTCCTCCGGTCCA	0.665																																						ENST00000374227.3																			1	Substitution - Missense(1)	p.R20K(1)	ovary(1)	NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(55-60)aga>ag		ZFP37 zinc finger protein																																				SO:0001651	inframe_deletion	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115818910_115818912delCTC	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.57_59delGAG	9.37:g.115818913_115818915delCTC	ENSP00000363344:p.Arg20del					ZFP37_ENST00000555206.1_In_Frame_Del_p.RR19del|ZFP37_ENST00000553380.1_In_Frame_Del_p.RR19del	p.RR19del			Q9Y6Q3	ZFP37_HUMAN			1	84_86	-			19					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	In_Frame_Del	DEL	ENST00000374227.3	37	c.57_59delGAG	CCDS6787.1																																																																																				0.665	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		82	831						82	831	---	---	---	---
ATM	472	broad.mit.edu	37	11	108141784	108141791	+	Splice_Site	DEL	ATCTTAGT	ATCTTAGT	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:108141784_108141791delATCTTAGT	ENST00000452508.2	+	20	3027_3028	c.2838_2839delATCTTAGT	c.(2836-2841)atatct>atct	p.S947fs	ATM_ENST00000278616.4_Splice_Site_p.S947fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	947					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCCTCCTACCATCTTAGTATCTAATGCT	0.389			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448	GRCh37	CX032786	ATM	X		c.e19-1	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001630	splice_region_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108141784_108141791delATCTTAGT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2839-1ATCTTAGT>-	11.37:g.108141784_108141791delATCTTAGT		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Splice_Site_p.I946_splice	p.I946_splice	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	19	3223_3224	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	946					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	DEL	ENST00000452508.2	37	c.2838_splice	CCDS31669.1																																																																																				0.389	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Frame_Shift_Del	23	203						23	203	---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000264020.2_In_Frame_Del_p.D92del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(274-276)del		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427683_118427685delATC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del					IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264021.3_In_Frame_Del_p.D41del	p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	651_653	-			41					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.274_276delGAT	CCDS53718.1																																																																																				0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		7	583						7	583	---	---	---	---
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:50452565_50452567delGAG	ENST00000447966.2	+	2	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_ENST00000228468.4_In_Frame_Del_p.E9del	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	9					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACTGAAGGCCGAGGAGGAGGAGG	0.616																																						ENST00000228468.4																			0											c.(16-18)del		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001651	inframe_deletion	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50452565_50452567delGAG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.16_18delGAG	12.37:g.50452574_50452576delGAG	ENSP00000400228:p.Glu9del					ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			2	401_403	+			9					A3KN86|E5KBL7|P78349|Q96CV2	In_Frame_Del	DEL	ENST00000447966.2	37	c.16_18delGAG	CCDS44876.1																																																																																				0.616	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		7	610						7	610	---	---	---	---
CTD-2277K2.1	0	broad.mit.edu	37	14	62380422	62380423	+	lincRNA	INS	-	-	TGTGTG	rs149203556|rs200830448|rs56758661	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:62380422_62380423insTGTGTG	ENST00000554436.1	+	0	482																											ctttgggtctttgtgtgtgtgt	0.366																																						ENST00000554436.1																			0																																																			0							g.chr14:62380422_62380423insTGTGTG																													14.37:g.62380423_62380428dupTGTGTG														0	482	+									RNA	INS	ENST00000554436.1	37																																																																																						0.366	CTD-2277K2.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411882.1			4	3						4	3	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174626	63174626	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:63174626delT	ENST00000322893.7	-	11	2835	c.2567delA	c.(2566-2568)aacfs	p.N856fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	856					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCTTAGTGGGTTTTTGGTCAC	0.463																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2566-2568)acfs		potassium voltage-gated channel, subfamily H (eag-related), member 5							158.0	143.0	148.0					14																	63174626		2203	4300	6503	SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174626delT	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2567delA	14.37:g.63174626delT	ENSP00000321427:p.Asn856fs					KCNH5_ENST00000420622.2_3'UTR	p.N856fs	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2835	-			856					C9JP98	Frame_Shift_Del	DEL	ENST00000322893.7	37	c.2567delA	CCDS9756.1																																																																																				0.463	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		8	744						8	744	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94517596	94517598	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:94517596_94517598delTCT	ENST00000330836.5	-	9	2650_2652	c.2519_2521delAGA	c.(2518-2523)aagaca>aca	p.K840del	DDX24_ENST00000555054.1_In_Frame_Del_p.K797del|DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000544005.1_In_Frame_Del_p.K590del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	840	Poly-Lys.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCTTCTTTGTCTTCTTCTTCTT	0.512											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(2518-2523)aca>a		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94517596_94517598delTCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2519_2521delAGA	14.37:g.94517605_94517607delTCT	ENSP00000328690:p.Lys840del		OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1306	DDX24_ENST00000555054.1_In_Frame_Del_p.KT797del|DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000544005.1_In_Frame_Del_p.KT590del	p.KT840del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	9	2650_2652	-		all_cancers(154;0.12)	840			Poly-Lys.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.2519_2521delAGA	CCDS9918.1																																																																																				0.512	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		7	468						7	468	---	---	---	---
COX10-AS1	100874058	broad.mit.edu	37	17	13679924	13679925	+	RNA	DEL	AC	AC	-	rs3083834|rs369218492		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:13679924_13679925delAC	ENST00000423323.1	-	0	5996				COX10-AS1_ENST00000602743.1_RNA|COX10-AS1_ENST00000582752.2_RNA|COX10-AS1_ENST00000577798.2_RNA					COX10 antisense RNA 1																		acacacacagacacacacacac	0.441																																						ENST00000582752.2																			0																																																			0							g.chr17:13679924_13679925delAC			17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13679934_13679935delAC														0	185	-									RNA	DEL	ENST00000423323.1	37																																																																																						0.441	COX10-AS1-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000129955.1			2	4						2	4	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10160303	10160304	+	RNA	INS	-	-	AGAAAAAG	rs11085553|rs377223811		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:10160303_10160304insAGAAAAAG	ENST00000495140.1	+	0	1342							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						aaaagaaagaaagaaagaaaga	0.406																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13																																														0							g.chr19:10160303_10160304insAGAAAAAG	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10160303_10160304insAGAAAAAG														0	1342	+									RNA	INS	ENST00000495140.1	37																																																																																						0.406	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		2	4						2	4	---	---	---	---
CTC-559E9.6	0	broad.mit.edu	37	19	19944580	19944580	+	RNA	DEL	T	T	-	rs372322378		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:19944580delT	ENST00000591884.1	+	0	520																											ATGTTTAATCttttttttttt	0.378																																						ENST00000591884.1																			0																																																			0							g.chr19:19944580delT																													19.37:g.19944580delT														0	520	+									RNA	DEL	ENST00000591884.1	37																																																																																						0.378	CTC-559E9.6-003	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000460786.1			3	5						3	5	---	---	---	---
CYYR1-AS1	100996571	broad.mit.edu	37	21	27809449	27809450	+	RNA	INS	-	-	GTGTGTGTGTGTGTGTGT	rs398036306|rs71183557	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:27809449_27809450insGTGTGTGTGTGTGTGTGT	ENST00000357401.3	+	0	186				AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000414486.1_RNA																							ATCTTATTCCAgtgtgtgtgtg	0.376																																						ENST00000357401.3																			0																																																			0							g.chr21:27809449_27809450insGTGTGTGTGTGTGTGTGT																													21.37:g.27809449_27809450insGTGTGTGTGTGTGTGTGT						AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000421771.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000444306.1_RNA								0	186	+									RNA	INS	ENST00000357401.3	37																																																																																						0.376	AP001597.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000171614.1			5	5						5	5	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35147045	35147046	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:35147045_35147046insA	ENST00000381318.3	+	13	1606_1607	c.1318_1319insA	c.(1318-1320)gaafs	p.E440fs	ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.E440fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.E403fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.E440fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	440	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCAAAACGGGAACTTGAAAGG	0.376																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(1318-1320)actfs		intersectin 1 (SH3 domain protein)																																				SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35147045_35147046insA	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1320dupA	21.37:g.35147047_35147047dupA	ENSP00000370719:p.Glu440fs					AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.T403fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.T440fs	p.T440fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			13	1606_1607	+			440			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Ins	INS	ENST00000381318.3	37	c.1318_1319insA	CCDS33545.1																																																																																				0.376	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		12	216						12	216	---	---	---	---
LINC01399	104310353	broad.mit.edu	37	22	35552285	35552288	+	lincRNA	DEL	ACAC	ACAC	-	rs398037015|rs543859369|rs369985200|rs66614907|rs57318297	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:35552285_35552288delACAC	ENST00000423311.1	-	0	512																											ACAATACCCTacacacacacacac	0.495																																						ENST00000423311.1																			0																																																			0							g.chr22:35552285_35552288delACAC																													22.37:g.35552293_35552296delACAC														0	512	-									RNA	DEL	ENST00000423311.1	37																																																																																						0.495	CTA-714B7.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320640.1			4	3						4	3	---	---	---	---
