#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_match_norm_validation_allele1	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_tumor_sample
MEGF6	1953	broad.mit.edu	37	1	3407103	3407103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:3407103C>T	ENST00000356575.4	-	37	4841	c.4615G>A	c.(4615-4617)Gcg>Acg	p.A1539T	RP11-168F9.2_ENST00000606489.1_lincRNA|MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1539						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TAGTGCCTCGCTGGTCCACCG	0.672																																					Ovarian(73;978 3658)	uc001akl.2		NaN																	0				large_intestine(1)	1						c.(4615-4617)GCG>ACG		EGF-like-domain, multiple 3 precursor							30.0	38.0	36.0					1																	3407103		1972	4148	6120	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3407103C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4615G>A	1.37:g.3407103C>T	ENSP00000348982:p.Ala1539Thr					MEGF6_uc001akk.2_Missense_Mutation_p.A1227T	p.A1539T	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	37	4842	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1539					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.4615G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	8.599	0.886308	0.17540	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.87887	-2.31;-1.92	3.16	1.18	0.20946	.	.	.	.	.	T	0.72922	0.3521	N	0.14661	0.345	0.09310	N	1	B;B	0.24721	0.067;0.11	B;B	0.19946	0.012;0.027	T	0.63139	-0.6704	9	0.87932	D	0	.	3.4805	0.07601	0.2512:0.6114:0.0:0.1374	.	1539;1227	O75095;O75095-2	MEGF6_HUMAN;.	T	1227;1539	ENSP00000294599:A1227T;ENSP00000348982:A1539T	ENSP00000294599:A1227T	A	-	1	0	MEGF6	3396963	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.120000	0.01323	0.335000	0.23614	0.591000	0.81541	GCG		0.672	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1		NM_001409		30	58	0	0	0	0.740014	0	30	58		
GPR157	80045	broad.mit.edu	37	1	9164616	9164616	+	Silent	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:9164616G>C	ENST00000377411.4	-	4	1012	c.870C>G	c.(868-870)ctC>ctG	p.L290L	GPR157_ENST00000414642.2_Silent_p.L225L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGAGAGAAGAGCCGAGTTC	0.612																																						uc001apq.1		NaN																	0					0						c.(868-870)CTC>CTG		G protein-coupled receptor 157							64.0	56.0	58.0					1																	9164616		2203	4300	6503	SO:0001819	synonymous_variant	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9164616G>C	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.870C>G	1.37:g.9164616G>C						GPR157_uc010oad.1_Silent_p.L225L	p.L290L	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	4	1013	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	290			Cytoplasmic (Potential).		A2A334|Q8WWB8|Q9HA73	Silent	SNP	ENST00000377411.4	37	c.870C>G	CCDS100.2																																																																																				0.612	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2		NM_024980		19	64	0	0	0	0.740014	0	19	64		
PRAMEF18	391003	broad.mit.edu	37	1	13475073	13475073	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:13475073C>T	ENST00000376126.2	-	3	1055	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	352					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)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGTCTGAAGAGTGG	0.547																																						uc009vnu.1		NaN																	0					0						c.(1054-1056)CAG>CAA		PRAME family member 18							61.0	69.0	66.0					1																	13475073		2201	4294	6495	SO:0001819	synonymous_variant	391003							g.chr1:13475073C>T			1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1056G>A	1.37:g.13475073C>T							p.Q352Q	NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1103	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	352						Silent	SNP	ENST00000376126.2	37	c.1056G>A	CCDS41258.1																																																																																				0.547	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2		NM_001099850		145	223	0	0	0	0.870114	0	145	223		
LPHN2	23266	broad.mit.edu	37	1	82456786	82456786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:82456786G>C	ENST00000370728.1	+	25	4982	c.4337G>C	c.(4336-4338)gGa>gCa	p.G1446A	LPHN2_ENST00000319517.6_Missense_Mutation_p.G1390A|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1448A|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.G1403A|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1371A|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1461A|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1461A|LPHN2_ENST00000359929.3_Missense_Mutation_p.G1390A|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1418A|LPHN2_ENST00000370730.1_Missense_Mutation_p.G1403A|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1418A|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1448A			O95490	LPHN2_HUMAN	latrophilin 2	1446					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		attccagAAGGAGATGTTAGA	0.423																																						uc001dit.3		NaN																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(4168-4170)GGA>GCA		latrophilin 2 precursor							34.0	35.0	35.0					1																	82456786		2200	4296	6496	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456786G>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4337G>C	1.37:g.82456786G>C	ENSP00000359763:p.Gly1446Ala					LPHN2_uc001dis.2_Missense_Mutation_p.G370A|LPHN2_uc001diu.2_Missense_Mutation_p.G1390A|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.G1017A	p.G1390A	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	21	4350	+			1446			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.4169G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.66|18.66|18.66	3.671106|3.671106|3.671106	0.67814|0.67814|0.67814	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	.|T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.78924|.	.|-1.0;-0.99;-1.22;-1.17;-0.94;-0.88;-1.15;-1.15;-0.94;-0.88;-1.17;-1.22|.	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.69851|0.69851|0.69851	0.3157|0.3157|0.3157	M|M|M	0.66939|0.66939|0.66939	2.045|2.045|2.045	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.76494|.	.|0.983;0.999|.	.|P;D|.	.|0.87578|.	.|0.876;0.998|.	T|T|T	0.67082|0.67082|0.67082	-0.5760|-0.5760|-0.5760	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	19.7629|19.7629|19.7629	0.96329|0.96329|0.96329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|1390;370|.	.|O95490-2;B3KVU1|.	.|.;.|.	Q|A|S	1338|1371;1446;1403;1418;1461;1448;1390;1390;1461;1448;1418;1403|457	.|ENSP00000359756:G1371A;ENSP00000359763:G1446A;ENSP00000359765:G1403A;ENSP00000359762:G1418A;ENSP00000359760:G1461A;ENSP00000359758:G1448A;ENSP00000353006:G1390A;ENSP00000322270:G1390A;ENSP00000359752:G1461A;ENSP00000378344:G1448A;ENSP00000271029:G1418A;ENSP00000337306:G1403A|.	.|ENSP00000271029:G1418A|.	E|G|R	+|+|+	1|2|3	0|0|2	LPHN2|LPHN2|LPHN2	82229374|82229374|82229374	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.957000|0.957000|0.957000	0.61999|0.61999|0.61999	7.280000|7.280000|7.280000	0.78610|0.78610|0.78610	2.666000|2.666000|2.666000	0.90696|0.90696|0.90696	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAG|GGA|AGG		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302		10	9	0	0	0	0.335167	0	10	9		
GBP6	163351	broad.mit.edu	37	1	89849217	89849217	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:89849217G>C	ENST00000370456.4	+	9	1465	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	GBP6_ENST00000535065.1_Missense_Mutation_p.E328Q	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	458					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATAGGCAAAAGAGGTCTTCCA	0.408																																						uc001dnf.2		NaN																	0				ovary(2)	2						c.(1372-1374)GAG>CAG		guanylate binding protein family, member 6							78.0	83.0	81.0					1																	89849217		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89849217G>C	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1372G>C	1.37:g.89849217G>C	ENSP00000359485:p.Glu458Gln					GBP6_uc010ost.1_Missense_Mutation_p.E328Q	p.E458Q	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	9	1646	+		Lung NSC(277;0.0908)	458					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.1372G>C	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376864	0.42105	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.02498	4.27;4.27	5.09	4.18	0.49190	Guanylate-binding protein, C-terminal (3);	0.072050	0.52532	D	0.000065	T	0.02230	0.0069	M	0.69248	2.105	0.33548	D	0.595775	B	0.28512	0.214	B	0.34180	0.177	T	0.21042	-1.0257	10	0.52906	T	0.07	-24.488	11.0919	0.48121	0.0911:0.0:0.9089:0.0	.	458	Q6ZN66	GBP6_HUMAN	Q	429;458;328	ENSP00000359485:E458Q;ENSP00000442530:E328Q	ENSP00000359485:E458Q	E	+	1	0	GBP6	89621805	0.897000	0.30589	0.101000	0.21167	0.158000	0.22134	1.623000	0.37008	1.132000	0.42129	0.591000	0.81541	GAG		0.408	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1		NM_198460		23	24	0	0	0	0.667858	0	23	24		
OLFM3	118427	broad.mit.edu	37	1	102302527	102302527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:102302527C>T	ENST00000338858.5	-	2	183	c.184G>A	c.(184-186)Gat>Aat	p.D62N	OLFM3_ENST00000359814.3_Missense_Mutation_p.D62N|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.D42N			Q96PB7	NOE3_HUMAN	olfactomedin 3	62					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CACCGCCCATCAGGATCCTGA	0.488																																						uc001duf.2		NaN																	0				ovary(2)|skin(1)	3						c.(184-186)GAT>AAT		olfactomedin 3							94.0	85.0	88.0					1																	102302527		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102302527C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.184G>A	1.37:g.102302527C>T	ENSP00000345192:p.Asp62Asn					OLFM3_uc001dug.2_Missense_Mutation_p.D42N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA	p.D62N	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	2	255	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	62					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.184G>A		.	.	.	.	.	.	.	.	.	.	C	26.9	4.780932	0.90282	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000359814	D;D;T	0.93189	-3.18;-3.18;0.58	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.95708	0.8604	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.969;0.994	D	0.93875	0.7166	10	0.37606	T	0.19	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	42;62	Q5T3V6;Q96PB7	.;NOE3_HUMAN	N	42;62;62	ENSP00000359121:D42N;ENSP00000345192:D62N;ENSP00000352867:D62N	ENSP00000345192:D62N	D	-	1	0	OLFM3	102075115	1.000000	0.71417	0.992000	0.48379	0.638000	0.38207	7.794000	0.85869	2.788000	0.95919	0.650000	0.86243	GAT		0.488	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1				36	39	0	0	0	0.796494	0	36	39		
PDE4DIP	9659	broad.mit.edu	37	1	144864168	144864168	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:144864168T>G	ENST00000369354.3	-	36	6116	c.5927A>C	c.(5926-5928)gAg>gCg	p.E1976A	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1976A|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1870A|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E2112A|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2061A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1976					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGACGTTCCTCCCTGAAATG	0.478			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5926-5928)GAG>GCG		phosphodiesterase 4D interacting protein isoform							292.0	311.0	304.0					1																	144864168		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144864168T>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5927A>C	1.37:g.144864168T>G	ENSP00000358360:p.Glu1976Ala					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1870A|PDE4DIP_uc001elv.3_Missense_Mutation_p.E983A|PDE4DIP_uc001ema.2_Missense_Mutation_p.E163A	p.E1976A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	36	6218	-			1976			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5927A>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450118	0.63290	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01705	4.68;4.79;4.78;4.78;4.78	4.5	4.5	0.54988	.	.	.	.	.	T	0.04137	0.0115	M	0.64997	1.995	0.80722	D	1	B;D	0.67145	0.403;0.996	B;D	0.70227	0.223;0.968	T	0.31668	-0.9935	9	0.66056	D	0.02	.	12.0685	0.53603	0.0:0.0:0.0:1.0	.	1870;1976	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	A	1870;1976;1976;2061;2112	ENSP00000327209:E1870A;ENSP00000358360:E1976A;ENSP00000358363:E1976A;ENSP00000435654:E2061A;ENSP00000358366:E2112A	ENSP00000327209:E1870A	E	-	2	0	PDE4DIP	143575525	1.000000	0.71417	0.987000	0.45799	0.726000	0.41606	6.007000	0.70731	2.022000	0.59522	0.454000	0.30748	GAG		0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		106	453	0	0	0	0.870114	0	106	453		
PDE4DIP	9659	broad.mit.edu	37	1	144864203	144864203	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:144864203C>G	ENST00000369354.3	-	36	6081	c.5892G>C	c.(5890-5892)ttG>ttC	p.L1964F	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1964F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1858F|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L2100F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L2049F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1964					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCTCCCTCAAGTCTTCCA	0.547			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5890-5892)TTG>TTC		phosphodiesterase 4D interacting protein isoform							233.0	251.0	245.0					1																	144864203		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144864203C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5892G>C	1.37:g.144864203C>G	ENSP00000358360:p.Leu1964Phe					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1858F|PDE4DIP_uc001elv.3_Missense_Mutation_p.L971F|PDE4DIP_uc001ema.2_Missense_Mutation_p.L151F	p.L1964F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	36	6183	-			1964			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5892G>C	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.829868|2.829868	0.50845|0.50845	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.02103|.	4.45;4.57;4.57;4.58;4.58|.	4.5|4.5	2.56|2.56	0.30785|0.30785	.|.	.|.	.|.	.|.	.|.	T|.	0.45796|.	0.1360|.	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999999|0.999999	B;D|.	0.76494|.	0.01;0.999|.	B;D|.	0.80764|.	0.015;0.994|.	T|.	0.39461|.	-0.9613|.	9|.	0.51188|.	T|.	0.08|.	.|.	7.53|7.53	0.27677|0.27677	0.2846:0.6299:0.0:0.0856|0.2846:0.6299:0.0:0.0856	.|.	1858;1964|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	F|S	1858;1964;1964;2049;2100|121	ENSP00000327209:L1858F;ENSP00000358360:L1964F;ENSP00000358363:L1964F;ENSP00000435654:L2049F;ENSP00000358366:L2100F|.	ENSP00000327209:L1858F|.	L|X	-|-	3|2	2|2	PDE4DIP|PDE4DIP	143575560|143575560	0.027000|0.027000	0.19231|0.19231	0.994000|0.994000	0.49952|0.49952	0.858000|0.858000	0.48976|0.48976	0.248000|0.248000	0.18198|0.18198	0.233000|0.233000	0.21120|0.21120	-1.164000|-1.164000	0.01763|0.01763	TTG|TGA		0.547	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		78	444	0	0	0	0.870114	0	78	444		
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T	rs557071025	byFrequency	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:153907303C>T	ENST00000361217.4	-	18	3124	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642																																						uc001fdd.1		NaN																	0				ovary(1)	1						c.(2704-2706)CAG>CAA		DENN/MADD domain containing 4B							30.0	39.0	36.0					1																	153907303		2184	4281	6465	SO:0001819	synonymous_variant	9909							g.chr1:153907303C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2706G>A	1.37:g.153907303C>T						uc001fdc.1_RNA	p.Q902Q	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3107	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		902			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2706G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2		XM_375806		5	69	0	0	0	0.248553	0	5	69		
TNR	7143	broad.mit.edu	37	1	175324643	175324643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:175324643C>T	ENST00000367674.2	-	17	3953	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H	TNR_ENST00000263525.2_Missense_Mutation_p.R1082H			Q92752	TENR_HUMAN	tenascin R	1082	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTCACCTTGCGGCTTCCATC	0.512																																						uc001gkp.1		NaN																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3244-3246)CGC>CAC		tenascin R precursor							83.0	83.0	83.0					1																	175324643		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175324643C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3245G>A	1.37:g.175324643C>T	ENSP00000356646:p.Arg1082His					TNR_uc009wwu.1_Missense_Mutation_p.R1082H	p.R1082H	NM_003285	NP_003276	Q92752	TENR_HUMAN			15	3326	-	Renal(580;0.146)		1082			Fibronectin type-III 9.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3245G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419412	0.83559	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57595	0.39;0.39	5.07	5.07	0.68467	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72360	-0.4317	10	0.44086	T	0.13	.	18.4216	0.90592	0.0:1.0:0.0:0.0	.	1082	Q92752	TENR_HUMAN	H	1082;1082;992	ENSP00000356646:R1082H;ENSP00000263525:R1082H	ENSP00000263525:R1082H	R	-	2	0	TNR	173591266	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	5.616000	0.67709	2.495000	0.84180	0.555000	0.69702	CGC		0.512	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285		35	66	0	0	0	0.804634	0	35	66		
KCNT2	343450	broad.mit.edu	37	1	196434452	196434452	+	Silent	SNP	T	T	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:196434452T>A	ENST00000294725.9	-	8	1524	c.609A>T	c.(607-609)atA>atT	p.I203I	KCNT2_ENST00000367431.4_Silent_p.I203I|KCNT2_ENST00000609185.1_Silent_p.I203I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367433.5_Silent_p.I203I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	203					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTAATGTAGATATTAAAATCA	0.269																																						uc001gtd.1		NaN																	0				ovary(5)|breast(1)|skin(1)	7						c.(607-609)ATA>ATT		potassium channel, subfamily T, member 2							58.0	62.0	60.0					1																	196434452		2201	4269	6470	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196434452T>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.609A>T	1.37:g.196434452T>A						KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.I203I|KCNT2_uc001gtf.1_Silent_p.I203I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.I203I|KCNT2_uc009wyv.1_Silent_p.I178I	p.I203I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			8	669	-			203			Helical; Name=Segment S5; (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.609A>T	CCDS1384.1																																																																																				0.269	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2		NM_198503		5	68	0	0	0	0.217242	0	5	68		
FAM171A1	221061	broad.mit.edu	37	10	15326047	15326047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:15326047G>A	ENST00000378116.4	-	2	161	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	52						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A52V(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCGATGAGCGCATCTGCTAC	0.552																																						uc001iob.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|breast(1)|skin(1)	4						c.(154-156)GCG>GTG		hypothetical protein LOC221061 precursor							77.0	70.0	72.0					10																	15326047		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15326047G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.155C>T	10.37:g.15326047G>A	ENSP00000367356:p.Ala52Val						p.A52V	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			2	162	-			52			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.155C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633691	0.29068	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.38560	1.13;1.13	5.25	3.4	0.38934	.	0.160101	0.53938	N	0.000043	T	0.32971	0.0847	L	0.38175	1.15	0.47153	D	0.99933	B	0.15473	0.013	B	0.14578	0.011	T	0.11060	-1.0603	10	0.54805	T	0.06	-12.3515	11.3426	0.49541	0.1467:0.0:0.8533:0.0	.	52	Q5VUB5	F1711_HUMAN	V	52;52;53;52	ENSP00000367356:A52V;ENSP00000407796:A52V	ENSP00000367354:A52V	A	-	2	0	FAM171A1	15366053	1.000000	0.71417	0.415000	0.26534	0.278000	0.26855	4.243000	0.58721	0.718000	0.32166	0.591000	0.81541	GCG		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		XM_167709		33	45	0	0	0	0.779181	0	33	45		
SVIL	6840	broad.mit.edu	37	10	29752434	29752434	+	Silent	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:29752434G>C	ENST00000355867.4	-	35	7016	c.6264C>G	c.(6262-6264)ctC>ctG	p.L2088L	PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000535393.1_Silent_p.L1002L|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375398.2_Silent_p.L2088L|SVIL_ENST00000375400.3_Silent_p.L1662L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2088					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCAGTACTGGAGCACAGTCT	0.617																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(6262-6264)CTC>CTG		supervillin isoform 2							67.0	54.0	59.0					10																	29752434		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29752434G>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6264C>G	10.37:g.29752434G>C						LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.L1002L|SVIL_uc001iuu.1_Silent_p.L1662L	p.L2088L	NM_021738	NP_068506	O95425	SVIL_HUMAN			35	7017	-		Breast(68;0.103)	2088			Gelsolin-like 5.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.6264C>G	CCDS7164.1																																																																																				0.617	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				12	43	0	0	0	0.435327	0	12	43		
CTNNA3	29119	broad.mit.edu	37	10	68381455	68381455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:68381455G>A	ENST00000433211.2	-	10	1543	c.1369C>T	c.(1369-1371)Cca>Tca	p.P457S	CTNNA3_ENST00000373744.4_Missense_Mutation_p.P457S	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATACCTGTGGACACAAGGTT	0.284																																						uc009xpn.1		NaN																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1369-1371)CCA>TCA		catenin, alpha 3							79.0	74.0	76.0					10																	68381455		2202	4299	6501	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68381455G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1369C>T	10.37:g.68381455G>A	ENSP00000389714:p.Pro457Ser					CTNNA3_uc001jmw.2_Missense_Mutation_p.P457S|CTNNA3_uc001jmx.3_Missense_Mutation_p.P457S	p.P457S	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			10	1492	-			457						Missense_Mutation	SNP	ENST00000433211.2	37	c.1369C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219625	0.58560	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.72725	-0.68;-0.68	5.4	5.4	0.78164	.	0.000000	0.46758	D	0.000272	D	0.85991	0.5826	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.76071	0.987;0.764	D	0.88447	0.3046	10	0.87932	D	0	-17.2492	14.6544	0.68823	0.0:0.0:1.0:0.0	.	457;457	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	S	457	ENSP00000389714:P457S;ENSP00000362849:P457S	ENSP00000362849:P457S	P	-	1	0	CTNNA3	68051461	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.259000	0.72494	2.520000	0.84964	0.585000	0.79938	CCA		0.284	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2		NM_013266		11	25	0	0	0	0.38729	0	11	25		
PBLD	64081	broad.mit.edu	37	10	70048339	70048339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:70048339G>C	ENST00000358769.2	-	8	794	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	PBLD_ENST00000495025.2_Missense_Mutation_p.L198V|PBLD_ENST00000336578.1_Missense_Mutation_p.L165V|PBLD_ENST00000432941.1_Missense_Mutation_p.L198V|PBLD_ENST00000309049.4_Missense_Mutation_p.L198V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	198					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTAAGGGTAAGAATAAGCCCT	0.468																																						uc001jns.1		NaN																	0				skin(2)|ovary(1)	3						c.(592-594)CTT>GTT		MAWD binding protein isoform a							109.0	100.0	103.0					10																	70048339		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70048339G>C	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.592C>G	10.37:g.70048339G>C	ENSP00000351619:p.Leu198Val					PBLD_uc001jnr.1_Missense_Mutation_p.L165V|PBLD_uc001jnt.1_Missense_Mutation_p.L198V|PBLD_uc001jnu.1_Missense_Mutation_p.L198V|PBLD_uc001jnv.1_3'UTR	p.L198V	NM_022129	NP_071412	P30039	PBLD_HUMAN			8	795	-			198					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.592C>G	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	0.193	-1.051713	0.01981	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.9	2.92	0.33932	.	0.255090	0.33572	N	0.004767	T	0.09202	0.0227	N	0.02391	-0.57	0.37951	D	0.932643	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.003	T	0.29212	-1.0019	10	0.02654	T	1	-3.1877	13.6885	0.62531	0.0:0.4509:0.5491:0.0	.	198;198	C9JIM0;P30039	.;PBLD_HUMAN	V	165;198;198;198	ENSP00000338041:L165V;ENSP00000351619:L198V;ENSP00000308466:L198V;ENSP00000395534:L198V	ENSP00000308466:L198V	L	-	1	0	PBLD	69718345	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	1.134000	0.31442	0.527000	0.28560	0.563000	0.77884	CTT		0.468	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1		NM_022129		58	61	0	0	0	0.870114	0	58	61		
DNA2	1763	broad.mit.edu	37	10	70190242	70190242	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:70190242G>A	ENST00000358410.3	-	14	2209	c.2159C>T	c.(2158-2160)tCa>tTa	p.S720L	DNA2_ENST00000399180.2_Missense_Mutation_p.S806L|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	720	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATGGACTTTGATCTGCAAAT	0.348																																						uc001jof.2		NaN																	0					0						c.(2416-2418)TCA>TTA		DNA replication helicase 2 homolog							79.0	74.0	76.0					10																	70190242		1835	4082	5917	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70190242G>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2159C>T	10.37:g.70190242G>A	ENSP00000351185:p.Ser720Leu					DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	p.S806L	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			14	2417	-			720					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.2417C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.352139	0.98231	.	.	ENSG00000138346	ENST00000399180;ENST00000358410	T;T	0.80304	-1.36;-1.36	5.52	3.44	0.39384	.	0.944631	0.08918	N	0.874842	T	0.61937	0.2387	N	0.04090	-0.28	0.80722	D	1	B	0.22800	0.075	B	0.19666	0.026	T	0.49409	-0.8943	10	0.22109	T	0.4	.	10.8521	0.46775	0.0747:0.0:0.7876:0.1377	.	720	P51530	DNA2L_HUMAN	L	806;720	ENSP00000382133:S806L;ENSP00000351185:S720L	ENSP00000351185:S720L	S	-	2	0	DNA2	69860248	1.000000	0.71417	0.995000	0.50966	0.862000	0.49288	4.442000	0.59988	1.309000	0.44985	0.585000	0.79938	TCA		0.348	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2				7	13	0	0	0	0.27861	0	7	13		
TLL2	7093	broad.mit.edu	37	10	98155634	98155634	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:98155634C>G	ENST00000357947.3	-	12	1753	c.1528G>C	c.(1528-1530)Gag>Cag	p.E510Q	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	510	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCACTCACCTCAAAAGCTTGG	0.478											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kml.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1528-1530)GAG>CAG		tolloid-like 2 precursor							103.0	96.0	98.0					10																	98155634		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155634C>G	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1528G>C	10.37:g.98155634C>G	ENSP00000350630:p.Glu510Gln		OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1333	TLL2_uc009xvf.1_Missense_Mutation_p.E488Q	p.E510Q	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	12	1754	-		Colorectal(252;0.0846)	510			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1528G>C	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030687	0.93575	.	.	ENSG00000095587	ENST00000357947	T	0.21031	2.03	5.37	5.37	0.77165	CUB (5);	0.000000	0.46145	D	0.000309	T	0.40694	0.1127	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03619	-1.1019	10	0.46703	T	0.11	.	18.2839	0.90107	0.0:1.0:0.0:0.0	.	510	Q9Y6L7	TLL2_HUMAN	Q	510	ENSP00000350630:E510Q	ENSP00000350630:E510Q	E	-	1	0	TLL2	98145624	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.609000	0.82925	2.793000	0.96121	0.563000	0.77884	GAG		0.478	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1				42	61	0	0	0	0.859065	0	42	61		
SFRP5	6425	broad.mit.edu	37	10	99527601	99527601	+	Silent	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:99527601G>T	ENST00000266066.3	-	3	742	c.624C>A	c.(622-624)atC>atA	p.I208I		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	208	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		TGATCTCCTTGATGCGCATTT	0.542																																						uc001kor.3		NaN																	0				lung(1)	1						c.(622-624)ATC>ATA		secreted frizzled-related protein 5 precursor							64.0	66.0	65.0					10																	99527601		2203	4300	6503	SO:0001819	synonymous_variant	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99527601G>T	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.624C>A	10.37:g.99527601G>T							p.I208I	NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	3	790	-		Colorectal(252;0.234)	208			NTR.		O14780|Q86TH7	Silent	SNP	ENST00000266066.3	37	c.624C>A	CCDS7472.1																																																																																				0.542	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1		NM_003015		107	228	1	0	2.96211e-45	0.870114	3.45253e-45	107	228		
SORCS1	114815	broad.mit.edu	37	10	108439408	108439408	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:108439408T>C	ENST00000263054.6	-	11	1652	c.1645A>G	c.(1645-1647)Agc>Ggc	p.S549G	SORCS1_ENST00000369698.1_Missense_Mutation_p.S84G|SORCS1_ENST00000344440.6_Missense_Mutation_p.S549G	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	549					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTATGATGCTTGGAGCTGTG	0.413																																						uc001kym.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(1645-1647)AGC>GGC		SORCS receptor 1 isoform a							111.0	90.0	97.0					10																	108439408		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108439408T>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1645A>G	10.37:g.108439408T>C	ENSP00000263054:p.Ser549Gly					SORCS1_uc001kyl.2_Missense_Mutation_p.S549G|SORCS1_uc009xxs.2_Missense_Mutation_p.S549G|SORCS1_uc001kyn.1_Missense_Mutation_p.S549G|SORCS1_uc001kyo.2_Missense_Mutation_p.S549G	p.S549G	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	11	1653	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	549			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1645A>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	2.952	-0.216526	0.06101	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.25414	1.8;1.8;1.8	5.96	5.96	0.96718	VPS10 (1);	0.043830	0.85682	D	0.000000	T	0.02193	0.0068	N	0.00001	-3.7	0.43214	D	0.995088	B;B;B;B;B	0.09022	0.001;0.002;0.002;0.001;0.002	B;B;B;B;B	0.09377	0.002;0.004;0.004;0.002;0.004	T	0.39722	-0.9600	9	.	.	.	-23.5453	6.7024	0.23232	0.1365:0.0707:0.0:0.7928	.	549;549;549;549;549	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	G	84;549;549	ENSP00000358712:S84G;ENSP00000263054:S549G;ENSP00000345964:S549G	.	S	-	1	0	SORCS1	108429398	0.989000	0.36119	0.999000	0.59377	0.994000	0.84299	2.361000	0.44160	2.285000	0.76669	0.533000	0.62120	AGC		0.413	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4		NM_052918		15	17	0	0	0	0.539581	0	15	17		
MRGPRE	116534	broad.mit.edu	37	11	3249613	3249613	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:3249613C>T	ENST00000389832.5	-	2	723	c.417G>A	c.(415-417)ctG>ctA	p.L139L	MRGPRE_ENST00000436689.2_Silent_p.L138L|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACAGGTGGTCAGGTGGCGTG	0.706																																						uc001lxq.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(412-414)CTG>CTA		MAS-related GPR, member E							11.0	18.0	15.0					11																	3249613		2161	4255	6416	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249613C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.417G>A	11.37:g.3249613C>T							p.L138L	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	724	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	138			Cytoplasmic (Potential).		Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.414G>A																																																																																					0.706	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5		XM_171536		13	18	0	0	0	0.479597	0	13	18		
OR51S1	119692	broad.mit.edu	37	11	4870194	4870194	+	Missense_Mutation	SNP	A	A	T	rs200985283		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:4870194A>T	ENST00000322101.2	-	1	320	c.245T>A	c.(244-246)gTc>gAc	p.V82D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGCAGTGACCAATCCAAT	0.547													A|||	1	0.000199681	0.0	0.0	5008	,	,		20497	0.001		0.0	False		,,,				2504	0.0					uc010qyo.1		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(244-246)GTC>GAC		olfactory receptor, family 51, subfamily S,							122.0	100.0	107.0					11																	4870194		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870194A>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.245T>A	11.37:g.4870194A>T	ENSP00000322754:p.Val82Asp						p.V82D	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	245	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	82			Helical; Name=2; (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.245T>A	CCDS31362.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	5.383	0.255831	0.10185	.	.	ENSG00000176922	ENST00000322101	T	0.00584	6.4	4.85	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.803834	0.10459	N	0.672228	T	0.00875	0.0029	L	0.61036	1.89	0.09310	N	1	B	0.25007	0.116	B	0.22152	0.038	T	0.42015	-0.9476	10	0.87932	D	0	-1.0429	8.9044	0.35515	0.2504:0.0:0.7496:0.0	.	82	Q8NGJ8	O51S1_HUMAN	D	82	ENSP00000322754:V82D	ENSP00000322754:V82D	V	-	2	0	OR51S1	4826770	0.000000	0.05858	0.011000	0.14972	0.005000	0.04900	-0.084000	0.11268	0.230000	0.21059	-0.468000	0.05107	GTC		0.547	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1		NM_001004758		21	65	0	0	0	0.608945	0	21	65		
IMMP1L	196294	broad.mit.edu	37	11	31455050	31455050	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:31455050C>A	ENST00000278200.1	-	6	584	c.389G>T	c.(388-390)gGa>gTa	p.G130V	IMMP1L_ENST00000532287.1_Missense_Mutation_p.G130V|IMMP1L_ENST00000534812.1_Missense_Mutation_p.G21V|IMMP1L_ENST00000533642.1_Missense_Mutation_p.G21V|IMMP1L_ENST00000526776.1_Missense_Mutation_p.G58V|AC108456.1_ENST00000408411.1_RNA	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	130					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					TGGAATAGGTCCATAGCACCT	0.368																																						uc001msy.1		NaN																	0					0						c.(388-390)GGA>GTA		IMP1 inner mitochondrial membrane							98.0	95.0	96.0					11																	31455050		2202	4299	6501	SO:0001583	missense	196294				proteolysis	mitochondrial inner membrane	serine-type peptidase activity	g.chr11:31455050C>A		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.389G>T	11.37:g.31455050C>A	ENSP00000278200:p.Gly130Val					IMMP1L_uc001msz.1_Missense_Mutation_p.G130V	p.G130V	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN			6	585	-	Lung SC(675;0.225)		130					D3DQZ7|Q96SH9	Missense_Mutation	SNP	ENST00000278200.1	37	c.389G>T	CCDS7874.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348031	0.82132	.	.	ENSG00000148950	ENST00000532287;ENST00000526776;ENST00000534812;ENST00000278200;ENST00000533642	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.87	4.96	0.65561	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);	0.049890	0.85682	D	0.000000	T	0.75287	0.3829	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84158	0.0427	10	0.87932	D	0	-3.5006	14.956	0.71113	0.0:0.9316:0.0:0.0684	.	130	Q96LU5	IMP1L_HUMAN	V	130;58;21;130;21	ENSP00000435576:G130V;ENSP00000434280:G58V;ENSP00000432673:G21V;ENSP00000278200:G130V;ENSP00000432471:G21V	ENSP00000278200:G130V	G	-	2	0	IMMP1L	31411626	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.272000	0.78516	1.495000	0.48549	0.591000	0.81541	GGA		0.368	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1		NM_144981		36	56	1	0	7.04047e-22	0.812448	7.79323e-22	36	56		
POLA2	23649	broad.mit.edu	37	11	65046238	65046238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:65046238C>T	ENST00000265465.3	+	6	1030	c.499C>T	c.(499-501)Cga>Tga	p.R167*	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	167					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ACGAAGTAACCGAGGAGAAGT	0.453																																						uc001odj.2		NaN																	0					0						c.(499-501)CGA>TGA		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						183.0	183.0	183.0					11																	65046238		2201	4297	6498	SO:0001587	stop_gained	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65046238C>T	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.499C>T	11.37:g.65046238C>T	ENSP00000265465:p.Arg167*					POLA2_uc009yqf.1_Nonsense_Mutation_p.R167*|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.2_5'Flank	p.R167*	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			6	841	+			167					B4DNB4|Q9BPV3	Nonsense_Mutation	SNP	ENST00000265465.3	37	c.499C>T	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479265	0.84747	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	.	.	.	5.59	4.67	0.58626	.	0.120057	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-4.0811	14.6205	0.68582	0.0:0.8531:0.1469:0.0	.	.	.	.	X	167;127	.	ENSP00000265465:R167X	R	+	1	2	POLA2	64802814	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	3.715000	0.54897	1.484000	0.48361	0.557000	0.71058	CGA		0.453	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1		NM_002689		66	169	0	0	0	0.870114	0	66	169		
PCF11	51585	broad.mit.edu	37	11	82877720	82877720	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:82877720C>T	ENST00000298281.4	+	5	2233	c.1781C>T	c.(1780-1782)gCc>gTc	p.A594V		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	594					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCCAAGTCTGCCAAAAGATGG	0.358																																						uc001ozx.3		NaN																	0				ovary(1)	1						c.(1780-1782)GCC>GTC		pre-mRNA cleavage complex II protein Pcf11							72.0	73.0	72.0					11																	82877720		1764	3893	5657	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877720C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1781C>T	11.37:g.82877720C>T	ENSP00000298281:p.Ala594Val					PCF11_uc010rsu.1_Missense_Mutation_p.A594V	p.A594V	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	2126	+			594					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1781C>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858175	0.32791	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.46063	1.88;0.88;0.88	6.07	5.16	0.70880	.	0.433891	0.22153	N	0.063897	T	0.25901	0.0631	N	0.19112	0.55	0.23827	N	0.996734	B;B	0.23442	0.085;0.006	B;B	0.16722	0.016;0.012	T	0.14615	-1.0466	9	.	.	.	.	9.6601	0.39950	0.2399:0.589:0.1711:0.0	.	594;594	E9PQ01;O94913	.;PCF11_HUMAN	V	594	ENSP00000298281:A594V;ENSP00000434540:A594V;ENSP00000431567:A594V	.	A	+	2	0	PCF11	82555368	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.447000	0.44917	1.546000	0.49388	0.655000	0.94253	GCC		0.358	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885		43	78	0	0	0	0.840704	0	43	78		
BACE1	23621	broad.mit.edu	37	11	117164662	117164662	+	Silent	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:117164662G>C	ENST00000313005.6	-	4	1090	c.630C>G	c.(628-630)ctC>ctG	p.L210L	BACE1_ENST00000510630.1_Intron|BACE1_ENST00000392937.6_Silent_p.L110L|BACE1_ENST00000513780.1_Intron|BACE1_ENST00000445823.2_Silent_p.L166L|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Silent_p.L210L	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	210					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCAGGGAGAAGAGGTTGGGAA	0.567																																						uc001pqz.2		NaN																	0				ovary(1)	1						c.(628-630)CTC>CTG		beta-site APP-cleaving enzyme 1 isoform A							119.0	100.0	106.0					11																	117164662		2201	4296	6497	SO:0001819	synonymous_variant	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117164662G>C	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.630C>G	11.37:g.117164662G>C						BACE1_uc001pqw.2_Intron|BACE1_uc001pqx.2_Intron|BACE1_uc001pqy.2_Silent_p.L166L|BACE1_uc001pra.1_3'UTR|BACE1_uc010rxg.1_Intron|BACE1_uc010rxh.1_Silent_p.L110L|BACE1_uc009yzo.1_5'Flank	p.L210L	NM_012104	NP_036236	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	4	1091	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	210			Extracellular (Potential).		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	ENST00000313005.6	37	c.630C>G	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370325	0.24771	.	.	ENSG00000186318	ENST00000530844;ENST00000504995	T;T	0.55234	0.53;0.53	5.97	5.97	0.96955	.	0.253483	0.39475	N	0.001345	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	7	0.02654	T	1	.	12.6974	0.57012	0.0744:0.0:0.9256:0.0	.	.	.	.	V	80;140	ENSP00000437151:L80V;ENSP00000434486:L140V	ENSP00000434486:L140V	L	-	1	0	BACE1	116669872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.394000	0.52551	2.836000	0.97738	0.655000	0.94253	CTT		0.567	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1				57	73	0	0	0	0.870114	0	57	73		
TECTA	7007	broad.mit.edu	37	11	121028601	121028601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:121028601C>T	ENST00000392793.1	+	14	4628	c.4357C>T	c.(4357-4359)Cgt>Tgt	p.R1453C	TECTA_ENST00000264037.2_Missense_Mutation_p.R1453C			O75443	TECTA_HUMAN	tectorin alpha	1453					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCGCTGTTTCCGTCGCAACGT	0.602																																						uc010rzo.1		NaN																	0				breast(6)|ovary(2)|skin(2)	10						c.(4357-4359)CGT>TGT		tectorin alpha precursor							42.0	43.0	43.0					11																	121028601		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028601C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4357C>T	11.37:g.121028601C>T	ENSP00000376543:p.Arg1453Cys						p.R1453C	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4357	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1453						Missense_Mutation	SNP	ENST00000392793.1	37	c.4357C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237451	0.79800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04970	3.52;3.52	5.16	4.24	0.50183	VWC out (1);	0.071421	0.64402	D	0.000020	T	0.08891	0.0220	N	0.19112	0.55	0.53688	D	0.999971	D	0.71674	0.998	P	0.54815	0.761	T	0.20371	-1.0277	10	0.56958	D	0.05	.	11.0626	0.47957	0.1442:0.7169:0.1389:0.0	.	1453	O75443	TECTA_HUMAN	C	1453	ENSP00000376543:R1453C;ENSP00000264037:R1453C	ENSP00000264037:R1453C	R	+	1	0	TECTA	120533811	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.777000	0.47717	1.367000	0.46095	0.563000	0.77884	CGT		0.602	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		9	177	0	0	0	0.361761	0	9	177		
TEAD4	7004	broad.mit.edu	37	12	3128321	3128321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:3128321C>T	ENST00000397122.2	+	6	466	c.181C>T	c.(181-183)Ccg>Tcg	p.P61S	TEAD4_ENST00000358409.2_Missense_Mutation_p.P147S|TEAD4_ENST00000359864.2_Missense_Mutation_p.P190S	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	190					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TGTCCAGCCTCCGCTGCCTCT	0.682																																						uc010sej.1		NaN																	0					0						c.(565-567)CCG>TCG		TEA domain family member 4 isoform 1							88.0	71.0	77.0					12																	3128321		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3128321C>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.181C>T	12.37:g.3128321C>T	ENSP00000380311:p.Pro61Ser					TEAD4_uc010sek.1_Missense_Mutation_p.P146S|TEAD4_uc001qln.2_Missense_Mutation_p.P61S	p.P189S	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		8	842	+	Ovarian(42;0.211)		190					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.565C>T	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.97|10.97	1.502663|1.502663	0.26949|0.26949	.|.	.|.	ENSG00000197905|ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122|ENST00000544666	T;T;T|.	0.27557|.	1.66;1.66;1.66|.	5.0|5.0	3.1|3.1	0.35709|0.35709	.|.	0.316936|.	0.30959|.	N|.	0.008527|.	T|T	0.60444|0.60444	0.2269|0.2269	M|M	0.64260|0.64260	1.97|1.97	0.47737|0.47737	D|D	0.999509|0.999509	B|.	0.10296|.	0.003|.	B|.	0.12156|.	0.007|.	T|T	0.54708|0.54708	-0.8253|-0.8253	10|5	0.05959|.	T|.	0.93|.	-4.8067|-4.8067	7.9302|7.9302	0.29897|0.29897	0.0:0.6996:0.0:0.3004|0.0:0.6996:0.0:0.3004	.|.	190|.	Q15561|.	TEAD4_HUMAN|.	S|F	147;190;61|112	ENSP00000351184:P147S;ENSP00000352926:P190S;ENSP00000380311:P61S|.	ENSP00000351184:P147S|.	P|S	+|+	1|2	0|0	TEAD4|TEAD4	2998582|2998582	0.917000|0.917000	0.31117|0.31117	0.974000|0.974000	0.42286|0.42286	0.720000|0.720000	0.41350|0.41350	0.596000|0.596000	0.24044|0.24044	0.452000|0.452000	0.26830|0.26830	0.561000|0.561000	0.74099|0.74099	CCG|TCC		0.682	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1		NM_003213		67	91	0	0	0	0.870114	0	67	91		
TAS2R13	50838	broad.mit.edu	37	12	11061864	11061864	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:11061864C>G	ENST00000390677.2	-	1	297	c.34G>C	c.(34-36)Gta>Cta	p.V12L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	12					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCAATTATTACAAGAGTGAAG	0.388																																						uc001qzg.1		NaN																	0				breast(1)|skin(1)	2						c.(34-36)GTA>CTA		taste receptor, type 2, member 13							40.0	39.0	39.0					12																	11061864		2202	4298	6500	SO:0001583	missense	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061864C>G	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.34G>C	12.37:g.11061864C>G	ENSP00000375095:p.Val12Leu					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	p.V12L	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN			1	298	-			12			Helical; Name=1; (Potential).		Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	ENST00000390677.2	37	c.34G>C	CCDS8635.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.594255	0.00857	.	.	ENSG00000212128	ENST00000390677	T	0.00816	5.66	3.3	-6.6	0.01824	.	0.921961	0.08886	N	0.879269	T	0.00384	0.0012	N	0.04746	-0.17	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.46091	-0.9216	10	0.02654	T	1	.	1.4572	0.02387	0.1329:0.3528:0.2668:0.2474	.	12	Q9NYV9	T2R13_HUMAN	L	12	ENSP00000375095:V12L	ENSP00000375095:V12L	V	-	1	0	TAS2R13	10953131	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-5.908000	0.00091	-1.646000	0.01513	-0.150000	0.13652	GTA		0.388	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1				12	27	0	0	0	0.457914	0	12	27		
ANP32D	23519	broad.mit.edu	37	12	48866717	48866717	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:48866717C>T	ENST00000266594.1	+	1	270	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	90						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GTCCAAACCTCATACATCTAA	0.398																																						uc010slt.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(268-270)CTC>CTT		acidic nuclear phosphoprotein 32D							90.0	89.0	89.0					12																	48866717		2203	4300	6503	SO:0001819	synonymous_variant	23519							g.chr12:48866717C>T	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.270C>T	12.37:g.48866717C>T							p.L90L	NM_012404	NP_036536	O95626	AN32D_HUMAN			1	270	+			90			LRR 4.		Q6NTC4	Silent	SNP	ENST00000266594.1	37	c.270C>T	CCDS31788.1																																																																																				0.398	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1		NM_012404		35	53	0	0	0	0.796494	0	35	53		
KMT2D	8085	broad.mit.edu	37	12	49425078	49425078	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:49425078C>G	ENST00000301067.7	-	39	13409	c.13410G>C	c.(13408-13410)aaG>aaC	p.K4470N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4470					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTTGCACATTCTTTGCCCGGA	0.617																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13408-13410)AAG>AAC		myeloid/lymphoid or mixed-lineage leukemia 2							69.0	74.0	73.0					12																	49425078		2061	4211	6272	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49425078C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13410G>C	12.37:g.49425078C>G	ENSP00000301067:p.Lys4470Asn	HNSCC(34;0.089)					p.K4470N	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	13410	-			4470					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.13410G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.945	1.218476	0.22373	.	.	ENSG00000167548	ENST00000301067	D	0.89746	-2.56	5.57	5.57	0.84162	.	0.000000	0.38272	N	0.001742	D	0.91563	0.7335	L	0.29908	0.895	0.52501	D	0.999952	D	0.89917	1.0	D	0.85130	0.997	D	0.92386	0.5917	10	0.87932	D	0	.	18.6999	0.91617	0.0:1.0:0.0:0.0	.	4470	O14686	MLL2_HUMAN	N	4470	ENSP00000301067:K4470N	ENSP00000301067:K4470N	K	-	3	2	MLL2	47711345	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.801000	0.47908	2.793000	0.96121	0.655000	0.94253	AAG		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				92	135	0	0	0	0.870114	0	92	135		
KMT2D	8085	broad.mit.edu	37	12	49427906	49427906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:49427906C>A	ENST00000301067.7	-	38	10683	c.10684G>T	c.(10684-10686)Gag>Tag	p.E3562*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3562	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGAGCTTCTCAGCATCAGCT	0.547																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(10684-10686)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							67.0	64.0	65.0					12																	49427906		2002	4191	6193	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49427906C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10684G>T	12.37:g.49427906C>A	ENSP00000301067:p.Glu3562*	HNSCC(34;0.089)					p.E3562*	NM_003482	NP_003473	O14686	MLL2_HUMAN			38	10684	-			3562			Potential.|Gln-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.10684G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	52	18.661230	0.99908	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.38	5.38	0.77491	.	0.000000	0.37348	N	0.002140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2915	0.90131	0.0:1.0:0.0:0.0	.	.	.	.	X	3562	.	ENSP00000301067:E3562X	E	-	1	0	MLL2	47714173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	GAG		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				77	113	1	0	3.4887e-51	0.870114	4.12088e-51	77	113		
HOXC11	3227	broad.mit.edu	37	12	54367330	54367330	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:54367330G>A	ENST00000546378.1	+	1	421	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	HOXC11_ENST00000243082.4_Missense_Mutation_p.R102Q|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	102					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						CTTATGCACCGGGAGTGCCTG	0.672			T	NUP98	AML																																	uc001sem.2		NaN		Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				ovary(1)	1						c.(304-306)CGG>CAG		homeobox C11							94.0	106.0	102.0					12																	54367330		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367330G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.305G>A	12.37:g.54367330G>A	ENSP00000446680:p.Arg102Gln						p.R102Q	NM_014212	NP_055027	O43248	HXC11_HUMAN			1	421	+			102					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.305G>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621059	0.87460	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.58652	0.32;0.32	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.83483	2.645	0.53688	D	0.999973	D	0.89917	1.0	D	0.81914	0.995	T	0.81922	-0.0711	10	0.87932	D	0	.	16.0846	0.81031	0.0:0.0:1.0:0.0	.	102	O43248	HXC11_HUMAN	Q	102	ENSP00000446680:R102Q;ENSP00000243082:R102Q	ENSP00000243082:R102Q	R	+	2	0	HOXC11	52653597	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.221000	0.95188	2.386000	0.81285	0.555000	0.69702	CGG		0.672	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2				205	294	0	0	0	0.870114	0	205	294		
SMARCC2	6601	broad.mit.edu	37	12	56567574	56567574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:56567574C>T	ENST00000267064.4	-	17	1642	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.R519Q|SMARCC2_ENST00000550164.1_Missense_Mutation_p.R519Q|SMARCC2_ENST00000394023.3_Missense_Mutation_p.R519Q	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	519	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGGGTTGGTCGACTCTCAGC	0.577																																						uc001skb.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1555-1557)CGA>CAA		SWI/SNF-related matrix-associated							153.0	145.0	148.0					12																	56567574		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56567574C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1556G>A	12.37:g.56567574C>T	ENSP00000267064:p.Arg519Gln					SMARCC2_uc001skd.2_Missense_Mutation_p.R519Q|SMARCC2_uc001ska.2_Missense_Mutation_p.R519Q|SMARCC2_uc001skc.2_Missense_Mutation_p.R519Q|SMARCC2_uc010sqf.1_Missense_Mutation_p.R408Q	p.R519Q	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		17	1662	-			519			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1556G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044178	0.93685	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.54479	0.57;0.59;0.6	4.9	4.9	0.64082	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (1);	0.000000	0.64402	D	0.000001	T	0.77824	0.4188	M	0.90650	3.135	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.998;0.997;0.997;0.998	D;D;D;D;D	0.72982	0.953;0.979;0.953;0.953;0.979	T	0.82890	-0.0233	10	0.87932	D	0	-6.4761	17.731	0.88377	0.0:1.0:0.0:0.0	.	408;519;524;519;519	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	Q	519	ENSP00000449396:R519Q;ENSP00000302919:R519Q;ENSP00000267064:R519Q	ENSP00000267064:R519Q	R	-	2	0	SMARCC2	54853841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.656000	0.90262	0.557000	0.71058	CGA		0.577	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1				141	233	0	0	0	0.870114	0	141	233		
SYT1	6857	broad.mit.edu	37	12	79611344	79611344	+	Silent	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:79611344C>A	ENST00000261205.4	+	4	702	c.45C>A	c.(43-45)gtC>gtA	p.V15V	SYT1_ENST00000393240.3_Silent_p.V15V|SYT1_ENST00000552744.1_Silent_p.V15V|SYT1_ENST00000457153.2_Silent_p.V15V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	15					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCCCGCCTGTCACCACTGTCG	0.517																																						uc001sys.2		NaN																	0				skin(3)|pancreas(2)|ovary(1)	6						c.(43-45)GTC>GTA		synaptotagmin I							52.0	52.0	52.0					12																	79611344		2203	4300	6503	SO:0001819	synonymous_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79611344C>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.45C>A	12.37:g.79611344C>A						SYT1_uc001syt.2_Silent_p.V15V|SYT1_uc001syu.2_Silent_p.V15V|SYT1_uc001syv.2_Silent_p.V15V	p.V15V	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			5	716	+			15			Vesicular (Potential).		Q6AI31	Silent	SNP	ENST00000261205.4	37	c.45C>A	CCDS9017.1																																																																																				0.517	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1		NM_005639		18	25	1	0	3.08376e-08	0.654019	3.1926e-08	18	25		
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				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)	p.Q2724Q(16)|p.Q2725Q(1)		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)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					uc001ujn.2		NaN																	17	Substitution - coding silent(17)		prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8173-8175)CAG>CAA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	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.chr12:132547087G>A	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.8283G>A	12.37:g.132547087G>A						EP400_uc001ujl.2_Silent_p.Q2724Q|EP400_uc001ujm.2_Silent_p.Q2644Q|EP400_uc001ujp.2_5'UTR	p.Q2725Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	46	8210	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Poly-Gln.|Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8175G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		6	66	0	0	0	0.27861	0	6	66		
P2RX2	22953	broad.mit.edu	37	12	133196152	133196152	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:133196152C>A	ENST00000389110.3	+	2	338	c.301C>A	c.(301-303)Ccc>Acc	p.P101T	P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Missense_Mutation_p.P101T|P2RX2_ENST00000352418.4_Missense_Mutation_p.A78D|P2RX2_ENST00000449132.2_Missense_Mutation_p.P101T|P2RX2_ENST00000343948.4_Missense_Mutation_p.P101T|P2RX2_ENST00000348800.5_Missense_Mutation_p.P101T	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	101					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GTACGTGAAGCCCCCCGAGGT	0.721																																						uc001ukj.1		NaN																	0					0						c.(301-303)CCC>ACC		purinergic receptor P2X2 isoform A							42.0	41.0	41.0					12																	133196152		2203	4300	6503	SO:0001583	missense	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133196152C>A	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.301C>A	12.37:g.133196152C>A	ENSP00000373762:p.Pro101Thr					P2RX2_uc001uki.1_Missense_Mutation_p.P101T|P2RX2_uc001ukk.1_Missense_Mutation_p.P101T|P2RX2_uc001ukl.1_Missense_Mutation_p.P101T|P2RX2_uc001ukm.1_Missense_Mutation_p.A78D|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.P101T|P2RX2_uc001uko.1_Missense_Mutation_p.P101T	p.P101T	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	2	301	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	101			Extracellular (Potential).		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.301C>A	CCDS31931.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.30|19.30|19.30	3.800380|3.800380|3.800380	0.70567|0.70567|0.70567	.|.|.	.|.|.	ENSG00000187848|ENSG00000187848|ENSG00000187848	ENST00000352418|ENST00000389110;ENST00000449132;ENST00000343948;ENST00000350048;ENST00000348800|ENST00000542301;ENST00000536121;ENST00000535910	T|T;T;T;T;T|.	0.04454|0.17213|.	3.62|2.29;2.29;2.29;2.29;2.29|.	4.44|4.44|4.44	4.44|4.44|4.44	0.53790|0.53790|0.53790	.|.|.	.|0.121223|.	.|0.56097|.	.|D|.	.|0.000028|.	T|T|T	0.71813|0.71813|0.71813	0.3384|0.3384|0.3384	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	B|D;D;D;D;D;D|.	0.26258|0.89917|.	0.145|1.0;1.0;1.0;1.0;1.0;0.998|.	B|D;D;D;D;D;P|.	0.29176|0.85130|.	0.099|0.997;0.994;0.994;0.995;0.997;0.884|.	T|T|T	0.72134|0.72134|0.72134	-0.4382|-0.4382|-0.4382	8|9|4	0.28530|0.87932|.	T|D|.	0.3|0|.	-23.5494|-23.5494|-23.5494	16.6525|16.6525|16.6525	0.85220|0.85220|0.85220	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	78|101;101;101;101;101;101|.	Q9UBL9-6|Q32MC3;Q9UBL9-7;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2|.	.|.;.;.;.;P2RX2_HUMAN;.|.	D|T|R	78|101|111;86;56	ENSP00000341419:A78D|ENSP00000373762:P101T;ENSP00000405531:P101T;ENSP00000343339:P101T;ENSP00000343904:P101T;ENSP00000345095:P101T|.	ENSP00000341419:A78D|ENSP00000343339:P101T|.	A|P|S	+|+|+	2|1|3	0|0|2	P2RX2|P2RX2|P2RX2	131706225|131706225|131706225	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.360000|0.360000|0.360000	0.29518|0.29518|0.29518	5.292000|5.292000|5.292000	0.65673|0.65673|0.65673	2.007000|2.007000|2.007000	0.58848|0.58848|0.58848	0.505000|0.505000|0.505000	0.49811|0.49811|0.49811	GCC|CCC|AGC		0.721	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1				46	88	1	0	3.05275e-18	0.864702	3.25626e-18	46	88		
ZC3H13	23091	broad.mit.edu	37	13	46539484	46539484	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr13:46539484C>T	ENST00000242848.4	-	16	4750	c.4402G>A	c.(4402-4404)Gaa>Aaa	p.E1468K	ZC3H13_ENST00000378921.2_Missense_Mutation_p.E424K|ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1469K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1468							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCATCTAGTTCGTCATCACTG	0.438																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NaN																	0				ovary(1)|lung(1)	2						c.(4402-4404)GAA>AAA		zinc finger CCCH-type containing 13							310.0	284.0	293.0					13																	46539484		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46539484C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4402G>A	13.37:g.46539484C>T	ENSP00000242848:p.Glu1468Lys					ZC3H13_uc001vaq.2_Missense_Mutation_p.E53K|ZC3H13_uc001vas.1_Missense_Mutation_p.E1469K	p.E1468K	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4408	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1468					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.4402G>A		.	.	.	.	.	.	.	.	.	.	C	24.5	4.541845	0.85917	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.69175	1.26;-0.38;0.15	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000013	T	0.80675	0.4668	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.986;0.994;0.994	T	0.81430	-0.0936	10	0.87932	D	0	.	19.8314	0.96638	0.0:1.0:0.0:0.0	.	1468;1469;53	Q5T200;Q5T200-2;B3KMG8	ZC3HD_HUMAN;.;.	K	1468;424;1469	ENSP00000242848:E1468K;ENSP00000368201:E424K;ENSP00000282007:E1469K	ENSP00000242848:E1468K	E	-	1	0	ZC3H13	45437485	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.484000	0.81180	2.675000	0.91044	0.655000	0.94253	GAA		0.438	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1		NM_015070		9	124	0	0	0	0.307466	0	9	124		
FOS	2353	broad.mit.edu	37	14	75745827	75745827	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr14:75745827G>A	ENST00000303562.4	+	1	350		c.e1+1		FOS_ENST00000555347.1_5'Flank|FOS_ENST00000535987.1_Splice_Site|FOS_ENST00000556324.2_3'UTR|FOS_ENST00000555242.1_Splice_Site|FOS_ENST00000555686.1_5'Flank|FOS_ENST00000554617.1_Splice_Site	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog						aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|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)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|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 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CAACGCGCAGGTAAGGCTGGC	0.692																																						uc001xrn.2		NaN																	0				lung(2)|ovary(1)	3						c.e1+1		v-fos FBJ murine osteosarcoma viral oncogene							37.0	36.0	36.0					14																	75745827		2203	4300	6503	SO:0001630	splice_region_variant	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75745827G>A	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.141+1G>A	14.37:g.75745827G>A						FOS_uc010tva.1_Splice_Site_p.Q47_splice|FOS_uc010asi.2_5'Flank|FOS_uc001xro.2_5'Flank	p.Q47_splice	NM_005252	NP_005243	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	1	346	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)						A8K4E2|B4DQ65|P18849	Splice_Site	SNP	ENST00000303562.4	37	c.141_splice	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599735	0.46318	.	.	ENSG00000170345	ENST00000303562;ENST00000554617;ENST00000554212;ENST00000535987;ENST00000555242	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1175	0.93348	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOS	74815580	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	7.711000	0.84669	2.843000	0.97960	0.655000	0.94253	.		0.692	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1		NM_005252	Intron	41	62	0	0	0	0.870114	0	41	62		
SETD3	84193	broad.mit.edu	37	14	99866554	99866554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr14:99866554C>T	ENST00000331768.5	-	12	1379	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	407					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGTGAAGATTCTATCAATAGC	0.403																																						uc001ygc.2		NaN																	0					0						c.(1219-1221)AGA>AAA		SET domain containing 3 isoform a							113.0	111.0	111.0					14																	99866554		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99866554C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1220G>A	14.37:g.99866554C>T	ENSP00000327436:p.Arg407Lys						p.R407K	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			12	1390	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	407					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1220G>A	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160753	0.38119	.	.	ENSG00000183576	ENST00000331768	T	0.20200	2.09	5.57	3.75	0.43078	Rubisco LS methyltransferase, substrate-binding domain (3);	0.146871	0.64402	N	0.000015	T	0.10423	0.0255	N	0.16266	0.395	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12630	-1.0540	10	0.10902	T	0.67	-12.5055	7.692	0.28573	0.0:0.6919:0.0:0.3081	.	407	Q86TU7	SETD3_HUMAN	K	407	ENSP00000327436:R407K	ENSP00000327436:R407K	R	-	2	0	SETD3	98936307	1.000000	0.71417	0.848000	0.33437	0.976000	0.68499	3.060000	0.49955	1.354000	0.45846	0.655000	0.94253	AGA		0.403	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3		NM_032233		54	102	0	0	0	0.870114	0	54	102		
NPAP1	23742	broad.mit.edu	37	15	24921378	24921378	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:24921378A>C	ENST00000329468.2	+	1	838	c.364A>C	c.(364-366)Atg>Ctg	p.M122L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	122					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCCCAGCCGCATGTTCACTCT	0.647																																						uc001ywo.2		NaN																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(364-366)ATG>CTG		hypothetical protein LOC23742							58.0	48.0	52.0					15																	24921378		2202	4296	6498	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921378A>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.364A>C	15.37:g.24921378A>C	ENSP00000333735:p.Met122Leu						p.M122L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	838	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	122						Missense_Mutation	SNP	ENST00000329468.2	37	c.364A>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.644	0.119753	0.08881	.	.	ENSG00000185823	ENST00000329468	T	0.05786	3.39	1.92	-3.84	0.04256	.	3.655990	0.01058	N	0.004594	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37454	-0.9705	10	0.33141	T	0.24	.	3.8281	0.08863	0.4859:0.1937:0.3204:0.0	.	122	Q9NZP6	CO002_HUMAN	L	122	ENSP00000333735:M122L	ENSP00000333735:M122L	M	+	1	0	C15orf2	22472471	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.743000	0.04845	-1.343000	0.02219	-1.263000	0.01449	ATG		0.647	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1		NM_018958		65	129	0	0	0	0.870114	0	65	129		
DTWD1	56986	broad.mit.edu	37	15	49926748	49926748	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:49926748C>A	ENST00000251250.6	+	5	631	c.424C>A	c.(424-426)Cct>Act	p.P142T	DTWD1_ENST00000415425.1_Missense_Mutation_p.P55T|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000403028.3_Missense_Mutation_p.P142T|DTWD1_ENST00000558653.1_Missense_Mutation_p.P142T	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	142										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ACTCATTTTTCCTGGACCTCA	0.308																																						uc001zxq.2		NaN																	0					0						c.(424-426)CCT>ACT		DTW domain containing 1							42.0	46.0	44.0					15																	49926748		2195	4292	6487	SO:0001583	missense	56986							g.chr15:49926748C>A	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.424C>A	15.37:g.49926748C>A	ENSP00000251250:p.Pro142Thr					DTWD1_uc001zxs.2_Missense_Mutation_p.P142T|DTWD1_uc001zxr.2_Missense_Mutation_p.P55T|DTWD1_uc001zxo.2_Missense_Mutation_p.P142T	p.P142T	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)	5	701	+		all_lung(180;0.0384)	142					Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	c.424C>A	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012014	0.54468	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.56103	0.48;0.48	4.95	4.95	0.65309	DTW (1);	0.050187	0.85682	D	0.000000	T	0.78528	0.4297	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83174	-0.0092	9	.	.	.	-16.0088	18.5571	0.91089	0.0:1.0:0.0:0.0	.	55;142	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	T	142;142;55	ENSP00000385399:P142T;ENSP00000251250:P142T	.	P	+	1	0	DTWD1	47714040	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	6.657000	0.74402	2.455000	0.83008	0.655000	0.94253	CCT		0.308	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2		NM_020234		35	51	1	0	8.16277e-20	0.827153	8.81379e-20	35	51		
SCG3	29106	broad.mit.edu	37	15	51975502	51975502	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:51975502G>C	ENST00000220478.3	+	4	671	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	90					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AATTGAGAAAGAAAGACAATC	0.358																																						uc002abh.2		NaN																	0				ovary(1)	1						c.(268-270)GAA>CAA		secretogranin III isoform 1 precursor							144.0	155.0	151.0					15																	51975502		2195	4293	6488	SO:0001583	missense	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975502G>C	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.268G>C	15.37:g.51975502G>C	ENSP00000220478:p.Glu90Gln					SCG3_uc010ufz.1_5'UTR	p.E90Q	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	4	676	+			90					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	c.268G>C	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017543	0.54576	.	.	ENSG00000104112	ENST00000220478	T	0.24723	1.84	6.17	6.17	0.99709	.	0.663896	0.16582	N	0.208174	T	0.20536	0.0494	N	0.19112	0.55	0.80722	D	1	P	0.39480	0.675	B	0.40444	0.329	T	0.01935	-1.1244	10	0.44086	T	0.13	-25.0125	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	90	Q8WXD2	SCG3_HUMAN	Q	90	ENSP00000220478:E90Q	ENSP00000220478:E90Q	E	+	1	0	SCG3	49762794	1.000000	0.71417	0.872000	0.34217	0.957000	0.61999	4.514000	0.60482	2.941000	0.99782	0.655000	0.94253	GAA		0.358	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2		NM_013243		98	144	0	0	0	0.870114	0	98	144		
HCN4	10021	broad.mit.edu	37	15	73624589	73624589	+	Silent	SNP	G	G	T	rs373794941		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:73624589G>T	ENST00000261917.3	-	3	2247	c.1254C>A	c.(1252-1254)atC>atA	p.I418I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	418					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGAGGTTCACGATGCGCACCA	0.612																																						uc002avp.2		NaN																	0				ovary(5)|liver(1)	6						c.(1252-1254)ATC>ATA		hyperpolarization activated cyclic							103.0	83.0	89.0					15																	73624589		2198	4297	6495	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73624589G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1254C>A	15.37:g.73624589G>T							p.I418I	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	3	2248	-			418			Cytoplasmic (Potential).		Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.1254C>A	CCDS10248.1																																																																																				0.612	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		NM_005477		70	96	1	0	1.1794e-34	0.870114	1.3567e-34	70	96		
RPP25	54913	broad.mit.edu	37	15	75248520	75248520	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:75248520G>A	ENST00000322177.5	-	1	1285	c.405C>T	c.(403-405)ctC>ctT	p.L135L	RPP25_ENST00000499788.2_Silent_p.L135L	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	135					tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			breast(1)|lung(1)	2						GTAGGATGGCGAGGCCGGGCA	0.697																																						uc002azj.1		NaN																	0					0						c.(403-405)CTC>CTT		ribonuclease P 25kDa subunit							10.0	12.0	11.0					15																	75248520		2182	4288	6470	SO:0001819	synonymous_variant	54913				tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding	g.chr15:75248520G>A	AY034074	CCDS10274.1	15q24.2	2012-05-21	2007-06-26		ENSG00000178718	ENSG00000178718			30361	protein-coding gene	gene with protein product	"""RNase P protein subunit p25"""		"""ribonuclease P 25kDa subunit"""			12003489	Standard	NM_017793		Approved	FLJ20374	uc002azj.1	Q9BUL9	OTTHUMG00000142822	ENST00000322177.5:c.405C>T	15.37:g.75248520G>A							p.L135L	NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN			1	1256	-			135					D3DW70|Q9NX88	Silent	SNP	ENST00000322177.5	37	c.405C>T	CCDS10274.1																																																																																				0.697	RPP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286413.1		NM_017793		15	19	0	0	0	0.479597	0	15	19		
CHD2	1106	broad.mit.edu	37	15	93563313	93563313	+	Missense_Mutation	SNP	G	G	T	rs61752830		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:93563313G>T	ENST00000394196.4	+	38	6046	c.4978G>T	c.(4978-4980)Gac>Tac	p.D1660Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D1660Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1660					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATGGGGAAGCGACAGGCACCA	0.512																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(4978-4980)GAC>TAC		chromodomain helicase DNA binding protein 2							125.0	99.0	108.0					15																	93563313		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93563313G>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4978G>T	15.37:g.93563313G>T	ENSP00000377747:p.Asp1660Tyr					CHD2_uc002bso.1_Missense_Mutation_p.D1660Y	p.D1660Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		38	5553	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1660					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.4978G>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	31	5.084066	0.94100	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.91295	-2.82;-2.61	5.61	5.61	0.85477	.	0.254605	0.19629	U	0.109702	D	0.91503	0.7317	L	0.27053	0.805	0.80722	D	1	D;D	0.56968	0.963;0.978	P;P	0.58391	0.578;0.838	D	0.92296	0.5845	10	0.66056	D	0.02	-18.3796	19.6303	0.95699	0.0:0.0:1.0:0.0	.	1660;1660	O14647;O14647-2	CHD2_HUMAN;.	Y	1660	ENSP00000377747:D1660Y;ENSP00000451366:D1660Y	ENSP00000377747:D1660Y	D	+	1	0	CHD2	91364317	1.000000	0.71417	0.933000	0.37362	0.978000	0.69477	9.148000	0.94652	2.641000	0.89580	0.655000	0.94253	GAC		0.512	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		25	42	1	0	1.1804e-14	0.667858	1.24401e-14	25	42		
ADAMTS17	170691	broad.mit.edu	37	15	100673517	100673517	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:100673517G>A	ENST00000268070.4	-	11	1582	c.1477C>T	c.(1477-1479)Cta>Tta	p.L493L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	493	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		gcacacattagatgctGCAGG	0.547																																						uc002bvv.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1477-1479)CTA>TTA		ADAM metallopeptidase with thrombospondin type 1							97.0	54.0	68.0					15																	100673517		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100673517G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1477C>T	15.37:g.100673517G>A						ADAMTS17_uc002bvx.1_Silent_p.L250L	p.L493L	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	11	1556	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		493			Disintegrin.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.1477C>T	CCDS10383.1																																																																																				0.547	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1		NM_139057		6	18	0	0	0	0.248553	0	6	18		
C16orf91	283951	broad.mit.edu	37	16	1476162	1476162	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:1476162G>T	ENST00000310355.1	-	3	460	c.461C>A	c.(460-462)gCt>gAt	p.A154D				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	127						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGACCTGGGAGCACCCACTGT	0.637																																						uc010uvd.1		NaN																	0					0						c.(460-462)GCT>GAT		hypothetical protein LOC283951							62.0	68.0	66.0					16																	1476162		2199	4300	6499	SO:0001583	missense	283951					integral to membrane		g.chr16:1476162G>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.461C>A	16.37:g.1476162G>T	ENSP00000311390:p.Ala154Asp						p.A154D	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN			3	461	-			127			Cytoplasmic (Potential).		Q96RZ0	Missense_Mutation	SNP	ENST00000310355.1	37	c.461C>A	CCDS32360.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268967	0.40095	.	.	ENSG00000174109	ENST00000310355	.	.	.	3.06	-0.0679	0.13758	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38950	-0.9637	5	0.87932	D	0	.	5.3776	0.16174	0.4078:0.0:0.5922:0.0	.	.	.	.	D	154	.	ENSP00000311390:A154D	A	-	2	0	C16orf91	1416163	0.016000	0.18221	0.001000	0.08648	0.018000	0.09664	0.739000	0.26173	0.023000	0.15187	-0.218000	0.12543	GCT		0.637	C16orf91-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001010878		43	270	1	0	2.59497e-14	0.834066	2.71854e-14	43	270		
CORO7	79585	broad.mit.edu	37	16	4411441	4411441	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:4411441C>T	ENST00000251166.4	-	17	1753	c.1608G>A	c.(1606-1608)acG>acA	p.T536T	CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000574025.1_Silent_p.T451T|CORO7_ENST00000537233.2_Silent_p.T518T|CORO7-PAM16_ENST00000572467.1_Silent_p.T536T|CORO7_ENST00000539968.1_Silent_p.T316T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	536					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGGGCAGTGCCGTGTCGGGCA	0.687																																						uc002cwh.3		NaN																	0					0						c.(1606-1608)ACG>ACA		coronin 7							48.0	51.0	50.0					16																	4411441		2195	4299	6494	SO:0001819	synonymous_variant	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4411441C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1608G>A	16.37:g.4411441C>T						CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.T536T|CORO7_uc002cwg.3_Silent_p.T316T|CORO7_uc010uxh.1_Silent_p.T518T|CORO7_uc010uxi.1_Silent_p.T451T|CORO7_uc002cwi.1_Silent_p.T316T|CORO7_uc010uxj.1_RNA	p.T536T	NM_024535	NP_078811	P57737	CORO7_HUMAN			17	1728	-			536					B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.1608G>A	CCDS10513.1																																																																																				0.687	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2		NM_024535		35	95	0	0	0	0.804634	0	35	95		
SRCAP	10847	broad.mit.edu	37	16	30723437	30723437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:30723437G>C	ENST00000262518.4	+	12	2159	c.1774G>C	c.(1774-1776)Gaa>Caa	p.E592Q	SRCAP_ENST00000395059.2_Missense_Mutation_p.E592Q|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.E592Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	592					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCAGCAGCTGAAAGTCTCCA	0.542																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(1774-1776)GAA>CAA		Snf2-related CBP activator protein							66.0	64.0	65.0					16																	30723437		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30723437G>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1774G>C	16.37:g.30723437G>C	ENSP00000262518:p.Glu592Gln					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E449Q|SRCAP_uc010bzz.1_Missense_Mutation_p.E162Q	p.E592Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		12	2159	+			592					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1774G>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099466	0.56183	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92595	-3.07;-3.03;-3.03	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000036	D	0.92974	0.7764	L	0.28115	0.83	0.58432	D	0.99999	B;D;D	0.89917	0.216;1.0;0.999	B;D;D	0.85130	0.433;0.997;0.994	D	0.93220	0.6608	10	0.56958	D	0.05	-9.6682	15.8957	0.79333	0.0:0.0:1.0:0.0	.	592;592;592	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	Q	592	ENSP00000262518:E592Q;ENSP00000378499:E592Q;ENSP00000343042:E592Q	ENSP00000262518:E592Q	E	+	1	0	SRCAP	30630938	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.192000	0.94947	2.814000	0.96858	0.563000	0.77884	GAA		0.542	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		42	85	0	0	0	0.847076	0	42	85		
SRCAP	10847	broad.mit.edu	37	16	30724116	30724116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:30724116G>A	ENST00000262518.4	+	14	2495	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E704K|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.E704K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	704	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCCCAGAAAGAGAGGAAGCT	0.463																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(2110-2112)GAG>AAG		Snf2-related CBP activator protein							126.0	110.0	115.0					16																	30724116		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30724116G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2110G>A	16.37:g.30724116G>A	ENSP00000262518:p.Glu704Lys					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E561K|SRCAP_uc010bzz.1_Missense_Mutation_p.E274K	p.E704K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		14	2495	+			704			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.2110G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678401	0.68042	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92699	-3.09;-3.09;-3.09	4.98	4.98	0.66077	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000021	D	0.94391	0.8196	L	0.47190	1.495	0.80722	D	1	D;D;D	0.76494	0.995;0.998;0.999	D;D;D	0.83275	0.972;0.994;0.996	D	0.94663	0.7850	10	0.87932	D	0	-15.4382	16.121	0.81357	0.0:0.0:1.0:0.0	.	704;704;704	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	K	704	ENSP00000262518:E704K;ENSP00000378499:E704K;ENSP00000343042:E704K	ENSP00000262518:E704K	E	+	1	0	SRCAP	30631617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.475000	0.73582	2.747000	0.94245	0.462000	0.41574	GAG		0.463	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		77	125	0	0	0	0.870114	0	77	125		
SRCAP	10847	broad.mit.edu	37	16	30724634	30724634	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:30724634G>C	ENST00000262518.4	+	15	2621	c.2236G>C	c.(2236-2238)Gat>Cat	p.D746H	SRCAP_ENST00000395059.2_Missense_Mutation_p.D746H|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.D746H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	746	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.D746H(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCATTCTGGATGAGGCGCA	0.527																																						uc002dze.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2236-2238)GAT>CAT		Snf2-related CBP activator protein							127.0	112.0	117.0					16																	30724634		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30724634G>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2236G>C	16.37:g.30724634G>C	ENSP00000262518:p.Asp746His					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.D603H|SRCAP_uc010bzz.1_Missense_Mutation_p.D316H	p.D746H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		15	2621	+			746			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.2236G>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324806	0.60634	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.99857	-7.22;-7.22;-7.22	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000015	D	0.99924	0.9965	H	0.98721	4.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96235	0.9171	10	0.87932	D	0	-14.1374	18.1345	0.89614	0.0:0.0:1.0:0.0	.	746;746;746	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	H	746	ENSP00000262518:D746H;ENSP00000378499:D746H;ENSP00000343042:D746H	ENSP00000262518:D746H	D	+	1	0	SRCAP	30632135	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.630000	0.98420	2.816000	0.96949	0.563000	0.77884	GAT		0.527	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		96	132	0	0	0	0.870114	0	96	132		
ABCC12	94160	broad.mit.edu	37	16	48177903	48177903	+	Missense_Mutation	SNP	C	C	T	rs566052180		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:48177903C>T	ENST00000311303.3	-	2	538	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	ABCC12_ENST00000416054.1_Missense_Mutation_p.V65M|ABCC12_ENST00000448542.1_Missense_Mutation_p.V65M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	65						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGCCTTTCACCATCACCGGC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18763	0.0		0.0	False		,,,				2504	0.001					uc002efc.1		NaN																	0				ovary(2)|skin(1)	3						c.(193-195)GTG>ATG		ATP-binding cassette protein C12							117.0	98.0	104.0					16																	48177903		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48177903C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.193G>A	16.37:g.48177903C>T	ENSP00000311030:p.Val65Met					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V65M|ABCC12_uc010vgj.1_RNA	p.V65M	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			2	539	-		all_cancers(37;0.0474)|all_lung(18;0.047)	65					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.193G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	8.644	0.896589	0.17686	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	6.17	-12.3	0.00002	.	0.739914	0.14021	N	0.346820	T	0.73473	0.3591	L	0.33245	0.995	0.09310	N	0.999997	B;B	0.22541	0.071;0.009	B;B	0.31946	0.138;0.028	T	0.57057	-0.7876	10	0.36615	T	0.2	.	6.9787	0.24690	0.0737:0.1064:0.2919:0.528	.	65;65	Q96J65-2;Q96J65	.;MRP9_HUMAN	M	65	ENSP00000311030:V65M;ENSP00000401855:V65M;ENSP00000413046:V65M;ENSP00000436647:V65M	ENSP00000311030:V65M	V	-	1	0	ABCC12	46735404	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	-0.900000	0.04097	-2.875000	0.00321	-0.892000	0.02923	GTG		0.547	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1		NM_033226		38	65	0	0	0	0.788014	0	38	65		
CDH15	1013	broad.mit.edu	37	16	89261395	89261395	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:89261395G>A	ENST00000289746.2	+	14	2342	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	759					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGGGCGATGAGGACCAGGACT	0.657																																						uc002fmt.2		NaN																	0				skin(1)	1						c.(2275-2277)GAG>GAA		cadherin 15 preproprotein							34.0	31.0	32.0					16																	89261395		2176	4287	6463	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261395G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2277G>A	16.37:g.89261395G>A							p.E759E	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	14	2354	+			759			Cytoplasmic (Potential).			Silent	SNP	ENST00000289746.2	37	c.2277G>A	CCDS10976.1																																																																																				0.657	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1		NM_004933		28	32	0	0	0	0.706142	0	28	32		
ALOX12B	242	broad.mit.edu	37	17	7976982	7976982	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:7976982G>T	ENST00000319144.4	-	13	2008	c.1748C>A	c.(1747-1749)aCa>aAa	p.T583K	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	583	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TACCTGGCCTGTGTTGACAGC	0.572										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gjy.1		NaN																	0					0						c.(1747-1749)ACA>AAA		arachidonate 12-lipoxygenase, 12R type							85.0	70.0	75.0					17																	7976982		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7976982G>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1748C>A	17.37:g.7976982G>T	ENSP00000315167:p.Thr583Lys	Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645		p.T583K	NM_001139	NP_001130	O75342	LX12B_HUMAN			13	2009	-			583			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1748C>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776676	0.49786	.	.	ENSG00000179477	ENST00000319144	T	0.76316	-1.01	5.08	5.08	0.68730	Lipoxygenase, C-terminal (3);	0.645671	0.15261	N	0.271789	T	0.74465	0.3720	L	0.50333	1.59	0.09310	N	1	B	0.20780	0.048	B	0.29440	0.102	T	0.66077	-0.6013	10	0.48119	T	0.1	-1.3922	12.3579	0.55186	0.0:0.2902:0.7098:0.0	.	583	O75342	LX12B_HUMAN	K	583	ENSP00000315167:T583K	ENSP00000315167:T583K	T	-	2	0	ALOX12B	7917707	0.000000	0.05858	0.981000	0.43875	0.987000	0.75469	-0.110000	0.10824	2.361000	0.80049	0.650000	0.86243	ACA		0.572	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3				33	63	1	0	2.20262e-25	0.769981	2.45355e-25	33	63		
MED24	9862	broad.mit.edu	37	17	38178227	38178227	+	Silent	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:38178227G>T	ENST00000394128.2	-	23	2685	c.2604C>A	c.(2602-2604)gcC>gcA	p.A868A	MED24_ENST00000501516.3_Silent_p.A887A|MED24_ENST00000356271.3_Silent_p.A855A|MED24_ENST00000394127.2_Silent_p.A855A|MED24_ENST00000394126.1_Silent_p.A893A	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	868					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AAAGGATGTTGGCATCGTCCT	0.587																																						uc002htt.2		NaN																	0				ovary(1)	1						c.(2602-2604)GCC>GCA		mediator complex subunit 24 isoform 1							96.0	87.0	90.0					17																	38178227		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38178227G>T	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2604C>A	17.37:g.38178227G>T						MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'UTR|MED24_uc010wer.1_Silent_p.A203A|MED24_uc010wes.1_Silent_p.A728A|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Silent_p.A893A|MED24_uc002htu.2_Silent_p.A855A|MED24_uc010cwn.2_Silent_p.A855A|MED24_uc010weu.1_Silent_p.A778A|MED24_uc010wev.1_Silent_p.A818A	p.A868A	NM_014815	NP_055630	O75448	MED24_HUMAN			23	2917	-	Colorectal(19;0.000442)		868					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.2604C>A	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.796024	0.31777	.	.	ENSG00000008838	ENST00000422942	.	.	.	5.33	2.17	0.27698	.	.	.	.	.	T	0.54415	0.1857	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43360	-0.9396	4	.	.	.	-15.0745	6.7124	0.23284	0.0699:0.1222:0.6669:0.141	.	.	.	.	K	123	.	.	Q	-	1	0	MED24	35431753	1.000000	0.71417	0.177000	0.23020	0.622000	0.37654	1.538000	0.36094	0.292000	0.22492	0.655000	0.94253	CAA		0.587	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2		NM_014815		75	129	1	0	8.79861e-51	0.870114	1.03237e-50	75	129		
BRCA1	672	broad.mit.edu	37	17	41246211	41246211	+	Missense_Mutation	SNP	C	C	G	rs398122631|rs80357978		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:41246211C>G	ENST00000357654.3	-	10	1455	c.1337G>C	c.(1336-1338)aGa>aCa	p.R446T	BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R446T|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.R446T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R399T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.R150T|BRCA1_ENST00000346315.3_Missense_Mutation_p.R446T	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	446					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGTGAACTCTTTCACTTTT	0.378			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(1336-1338)AGA>ACA	Homologous_recombination	breast cancer 1, early onset isoform 1							89.0	88.0	88.0					17																	41246211		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246211C>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1337G>C	17.37:g.41246211C>G	ENSP00000350283:p.Arg446Thr	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R375T|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R399T|BRCA1_uc002ict.2_Missense_Mutation_p.R446T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R446T|BRCA1_uc002ide.1_Missense_Mutation_p.R277T|BRCA1_uc010cyy.1_Missense_Mutation_p.R446T|BRCA1_uc010whs.1_Missense_Mutation_p.R446T|BRCA1_uc010cyz.2_Missense_Mutation_p.R399T|BRCA1_uc010cza.2_Missense_Mutation_p.R420T|BRCA1_uc010wht.1_Missense_Mutation_p.R150T	p.R446T	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1569	-		Breast(137;0.000717)	446					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1337G>C	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.926|6.926	0.540518|0.540518	0.13250|0.13250	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.92495	.|-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	4.2|4.2	4.2|4.2	0.49525|0.49525	.|.	.|0.234157	.|0.30437	.|N	.|0.009621	D|D	0.94251|0.94251	0.8154|0.8154	M|M	0.85197|0.85197	2.74|2.74	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P;P	.|0.49635	.|0.818;0.818;0.771;0.616;0.926;0.562	.|P;P;P;P;P;P	.|0.58620	.|0.477;0.477;0.673;0.673;0.842;0.544	D|D	0.88246|0.88246	0.2913|0.2913	5|10	.|0.66056	.|D	.|0.02	-7.2782|-7.2782	4.92|4.92	0.13865|0.13865	0.2136:0.674:0.0:0.1124|0.2136:0.674:0.0:0.1124	.|.	.|446;405;446;446;446;446	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	Q|T	312|446;446;446;446;150;446;399;446;420;150;446	.|ENSP00000350283:R446T;ENSP00000326002:R446T;ENSP00000246907:R446T;ENSP00000310938:R150T;ENSP00000418960:R446T;ENSP00000418775:R399T;ENSP00000419274:R446T;ENSP00000419988:R420T;ENSP00000418986:R150T;ENSP00000419103:R446T	.|ENSP00000310938:R150T	E|R	-|-	1|2	0|0	BRCA1|BRCA1	38499737|38499737	0.001000|0.001000	0.12720|0.12720	0.349000|0.349000	0.25694|0.25694	0.029000|0.029000	0.11900|0.11900	0.564000|0.564000	0.23563|0.23563	2.323000|2.323000	0.78572|0.78572	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.378	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2		NM_007294		47	70	0	0	0	0.864702	0	47	70		
SCN4A	6329	broad.mit.edu	37	17	62020234	62020234	+	Missense_Mutation	SNP	C	C	T	rs369929462		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:62020234C>T	ENST00000435607.1	-	23	4316	c.4240G>A	c.(4240-4242)Gtt>Att	p.V1414I	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1414I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1414					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCCAGCCAACGGTGAAGTAG	0.572																																						uc002jds.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4240-4242)GTT>ATT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)	C	ILE/VAL	0,4404		0,0,2202	137.0	133.0	134.0		4240	-0.5	1.0	17		134	2,8592	2.2+/-6.3	0,2,4295	no	missense	SCN4A	NM_000334.4	29	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign	1414/1837	62020234	2,12996	2202	4297	6499	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62020234C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4240G>A	17.37:g.62020234C>T	ENSP00000396320:p.Val1414Ile						p.V1414I	NM_000334	NP_000325	P35499	SCN4A_HUMAN			23	4317	-			1414			Helical; Name=S3 of repeat IV; (Potential).|IV.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4240G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	2.943	-0.218558	0.06101	0.0	2.33E-4	ENSG00000007314	ENST00000435607	D	0.98381	-4.9	3.86	-0.502	0.12004	Ion transport (1);	0.361157	0.26840	N	0.022231	D	0.90635	0.7063	N	0.04746	-0.17	0.24917	N	0.992009	B	0.02656	0.0	B	0.08055	0.003	T	0.81970	-0.0689	10	0.02654	T	1	.	9.0864	0.36584	0.0:0.4951:0.0:0.5049	.	1414	P35499	SCN4A_HUMAN	I	1414	ENSP00000396320:V1414I	ENSP00000396320:V1414I	V	-	1	0	SCN4A	59373966	0.383000	0.25156	0.990000	0.47175	0.969000	0.65631	-0.009000	0.12765	-0.144000	0.11314	0.455000	0.32223	GTT		0.572	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_000334		63	190	0	0	0	0.870114	0	63	190		
GRIN2C	2905	broad.mit.edu	37	17	72843023	72843023	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:72843023A>C	ENST00000293190.5	-	10	2184	c.2038T>G	c.(2038-2040)Ttc>Gtc	p.F680V	GRIN2C_ENST00000347612.4_Missense_Mutation_p.F680V	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	680					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCGTGCCGAAGCGGAAAGGT	0.612																																						uc002jlt.1		NaN																	0				ovary(2)|breast(2)	4						c.(2038-2040)TTC>GTC		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						113.0	98.0	103.0					17																	72843023		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843023A>C		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2038T>G	17.37:g.72843023A>C	ENSP00000293190:p.Phe680Val					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.F680V	p.F680V	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			10	2194	-	all_lung(278;0.172)|Lung NSC(278;0.207)		680			Extracellular (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2038T>G	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706396	0.48412	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.17370	2.28	4.63	4.63	0.57726	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.50550	-0.8815	10	0.87932	D	0	.	13.4388	0.61101	1.0:0.0:0.0:0.0	.	714;680	Q8IW23;Q14957	.;NMDE3_HUMAN	V	680;714	ENSP00000293190:F680V	ENSP00000293190:F680V	F	-	1	0	GRIN2C	70354618	1.000000	0.71417	0.976000	0.42696	0.902000	0.53008	9.075000	0.94004	2.061000	0.61500	0.459000	0.35465	TTC		0.612	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1				104	260	0	0	0	0.870114	0	104	260		
GGA3	23163	broad.mit.edu	37	17	73235616	73235616	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:73235616G>A	ENST00000245541.6	-	14	1836	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	GGA3_ENST00000578348.1_Silent_p.L418L|GGA3_ENST00000582486.1_Silent_p.L468L|GGA3_ENST00000351904.7_Silent_p.L507L|GGA3_ENST00000538886.1_Silent_p.L418L|GGA3_ENST00000582717.1_Silent_p.L468L	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	540	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGGTGGGGATGAGAGGGGAGG	0.667											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jni.1		NaN																	0				ovary(1)|breast(1)	2						c.(1618-1620)CTC>CTT		ADP-ribosylation factor binding protein 3							27.0	27.0	27.0					17																	73235616		2148	4205	6353	SO:0001819	synonymous_variant	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73235616G>A	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1620C>T	17.37:g.73235616G>A			OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1143	GGA3_uc002jnj.1_Silent_p.L507L|GGA3_uc010wrw.1_Silent_p.L418L|GGA3_uc002jnk.1_Silent_p.L468L|GGA3_uc010wrx.1_Silent_p.L418L|GGA3_uc010wry.1_Silent_p.L468L	p.L540L	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		14	1629	-			540			Unstructured hinge.		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	ENST00000245541.6	37	c.1620C>T	CCDS11717.1																																																																																				0.667	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1		NM_138619		8	24	0	0	0	0.27861	0	8	24		
SLC25A19	60386	broad.mit.edu	37	17	73269536	73269536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:73269536C>T	ENST00000402418.3	-	6	1868	c.959G>A	c.(958-960)cGc>cAc	p.R320H	SLC25A19_ENST00000375261.4_Missense_Mutation_p.R263H|MIF4GD_ENST00000325102.8_5'Flank|RP11-649A18.12_ENST00000585075.1_RNA|MIF4GD_ENST00000578305.1_5'Flank|SLC25A19_ENST00000416858.2_Missense_Mutation_p.R320H|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R320H|MIF4GD_ENST00000580571.1_5'Flank|MIF4GD_ENST00000579297.1_5'Flank|MIF4GD_ENST00000245551.5_5'Flank|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000577542.1_5'Flank|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R320H|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R320H			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	320					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CTGCACTCAGCGCTGGCTGGC	0.567																																						uc002jns.3		NaN																	0				ovary(1)	1						c.(958-960)CGC>CAC		solute carrier family 25, member 19							33.0	32.0	32.0					17																	73269536		2203	4300	6503	SO:0001583	missense	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73269536C>T		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.959G>A	17.37:g.73269536C>T	ENSP00000385312:p.Arg320His					SLC25A19_uc010dge.2_Missense_Mutation_p.R263H|SLC25A19_uc002jnv.3_Missense_Mutation_p.R320H|SLC25A19_uc002jnu.3_Missense_Mutation_p.R320H|SLC25A19_uc002jnw.3_Missense_Mutation_p.R320H|SLC25A19_uc002jnt.3_Missense_Mutation_p.R320H	p.R320H	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		6	1869	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		320					E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	c.959G>A	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317059	0.40996	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.19	4.93	-1.54	0.08584	.	3.038830	0.01484	N	0.016808	T	0.64538	0.2607	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.54801	-0.8239	10	0.72032	D	0.01	.	2.4321	0.04474	0.1913:0.4795:0.1078:0.2213	.	263;320	E9PF74;Q9HC21	.;TPC_HUMAN	H	320;320;320;320;263	ENSP00000397818:R320H;ENSP00000402202:R320H;ENSP00000319574:R320H;ENSP00000385312:R320H;ENSP00000364410:R263H	ENSP00000319574:R320H	R	-	2	0	SLC25A19	70781131	0.003000	0.15002	0.007000	0.13788	0.054000	0.15201	-0.097000	0.11042	0.086000	0.17137	-0.145000	0.13849	CGC		0.567	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1		NM_021734		46	185	0	0	0	0.870114	0	46	185		
GAA	2548	broad.mit.edu	37	17	78079575	78079575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:78079575G>T	ENST00000302262.3	+	3	793	c.574G>T	c.(574-576)Gag>Tag	p.E192*	GAA_ENST00000390015.3_Nonsense_Mutation_p.E192*	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	192					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CAGGCGCTACGAGGTGCCCTT	0.602																																						uc002jxo.2		NaN																	0				ovary(1)	1						c.(574-576)GAG>TAG		acid alpha-glucosidase preproprotein	Acarbose(DB00284)						64.0	61.0	62.0					17																	78079575		2203	4300	6503	SO:0001587	stop_gained	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78079575G>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.574G>T	17.37:g.78079575G>T	ENSP00000305692:p.Glu192*					GAA_uc002jxp.2_Nonsense_Mutation_p.E192*|GAA_uc002jxq.2_Nonsense_Mutation_p.E192*	p.E192*	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		4	756	+	all_neural(118;0.117)		192					Q09GN4|Q14351|Q16302|Q8IWE7	Nonsense_Mutation	SNP	ENST00000302262.3	37	c.574G>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661824	0.88154	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-36.3775	17.1614	0.86804	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000305692:E192X	E	+	1	0	GAA	75694170	1.000000	0.71417	0.992000	0.48379	0.328000	0.28507	9.435000	0.97529	2.338000	0.79540	0.591000	0.81541	GAG		0.602	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1				49	193	1	0	7.47603e-22	0.870114	8.22363e-22	49	193		
ZADH2	284273	broad.mit.edu	37	18	72913894	72913894	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr18:72913894C>A	ENST00000322342.3	-	2	900	c.611G>T	c.(610-612)tGc>tTc	p.C204F	ZADH2_ENST00000537114.2_Missense_Mutation_p.C81F	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	204						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		ATCAGAAGAGCAGGTTCCAAT	0.468																																						uc002llx.2		NaN																	0					0						c.(610-612)TGC>TTC		zinc binding alcohol dehydrogenase domain							139.0	148.0	145.0					18																	72913894		2203	4300	6503	SO:0001583	missense	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913894C>A	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.611G>T	18.37:g.72913894C>A	ENSP00000323678:p.Cys204Phe					ZADH2_uc010dqv.2_Missense_Mutation_p.C81F	p.C204F	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	879	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	204					A8KA15|B4DZ91	Missense_Mutation	SNP	ENST00000322342.3	37	c.611G>T	CCDS12008.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178097	0.38511	.	.	ENSG00000180011	ENST00000322342;ENST00000537114	T;T	0.04234	3.67;3.67	5.73	5.73	0.89815	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.32793	0.0841	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46091	-0.9216	10	0.87932	D	0	-6.9699	18.1523	0.89678	0.0:1.0:0.0:0.0	.	204	Q8N4Q0	ZADH2_HUMAN	F	204;81	ENSP00000323678:C204F;ENSP00000440111:C81F	ENSP00000323678:C204F	C	-	2	0	ZADH2	71042882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.601000	0.82783	2.195000	0.70347	0.529000	0.55759	TGC		0.468	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1		NM_175907		267	687	1	0	1.47391e-114	0.870114	1.75275e-114	267	687		
PLIN5	440503	broad.mit.edu	37	19	4523684	4523684	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:4523684C>T	ENST00000381848.3	-	8	1328	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	416	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCCAGGCTCTCTGCTGGGCCG	0.711											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mas.2		NaN																	0					0						c.(1246-1248)CAG>CAA		lipid storage droplet protein 5							52.0	61.0	58.0					19																	4523684		1976	4149	6125	SO:0001819	synonymous_variant	440503					lipid particle		g.chr19:4523684C>T	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1248G>A	19.37:g.4523684C>T			OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	619		p.Q416Q	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN			8	1301	-			416					A2RRC1|Q6ZS68	Silent	SNP	ENST00000381848.3	37	c.1248G>A	CCDS42473.1																																																																																				0.711	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1		NM_001013706		129	177	0	0	0	0.870114	0	129	177		
C19orf80	55908	broad.mit.edu	37	19	11350372	11350372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:11350372C>T	ENST00000252453.8	+	1	78	c.59C>T	c.(58-60)tCa>tTa	p.S20L	DOCK6_ENST00000319867.7_5'Flank|C19orf80_ENST00000591200.1_Intron|DOCK6_ENST00000294618.7_Intron	NM_018687.6	NP_061157.3	Q6UXH0	BETAT_HUMAN	chromosome 19 open reading frame 80	20					cellular lipid metabolic process (GO:0044255)|glucose metabolic process (GO:0006006)|positive regulation of protein processing (GO:0010954)|regulation of lipoprotein metabolic process (GO:0050746)|triglyceride homeostasis (GO:0070328)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|breast(1)|endometrium(2)	4						CGGCCTGCCTCAGCGGCCCCC	0.642																																						uc010dxx.2		NaN																	0					0						c.(217-219)TCA>TTA		hepatocellular carcinoma-associated gene TD26							27.0	29.0	29.0					19																	11350372		1993	4152	6145	SO:0001583	missense	55908					extracellular region		g.chr19:11350372C>T		CCDS54220.1	19p13.2	2014-02-13			ENSG00000130173	ENSG00000130173			24933	protein-coding gene	gene with protein product	"""lipasin"", ""betatrophin"""					22809513, 23150577, 24262987	Standard	NM_018687		Approved	TD26, RIFL, ANGPTL8	uc021upg.1	Q6UXH0		ENST00000252453.8:c.59C>T	19.37:g.11350372C>T	ENSP00000252453:p.Ser20Leu					DOCK6_uc010xlq.1_5'Flank|DOCK6_uc002mqs.3_Intron|LOC55908_uc010dxw.2_Intron	p.S73L	NM_018687	NP_061157	Q6UXH0	TD26_HUMAN			2	220	+			20					Q9NQZ1	Missense_Mutation	SNP	ENST00000252453.8	37	c.218C>T	CCDS54220.1	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836517	0.16891	.	.	ENSG00000130173	ENST00000252453	T	0.33865	1.39	3.95	1.68	0.24146	.	0.896507	0.09101	N	0.848466	T	0.25457	0.0619	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24977	-1.0145	10	0.51188	T	0.08	-3.8303	7.6943	0.28585	0.0:0.7674:0.0:0.2326	.	20	Q6UXH0	TD26_HUMAN	L	20	ENSP00000252453:S20L	ENSP00000252453:S20L	S	+	2	0	C19orf80	11211372	0.001000	0.12720	0.000000	0.03702	0.067000	0.16453	0.983000	0.29552	0.239000	0.21243	0.313000	0.20887	TCA		0.642	C19orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453175.1		NM_018687		37	53	0	0	0	0.796494	0	37	53		
LPHN1	22859	broad.mit.edu	37	19	14274115	14274115	+	Silent	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:14274115A>C	ENST00000340736.6	-	6	810	c.513T>G	c.(511-513)ggT>ggG	p.G171G	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G166G|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	171	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.G171G(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATGCGGTCACCCGCCTGCA	0.652																																						uc010xnn.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(511-513)GGT>GGG		latrophilin 1 isoform 1 precursor							52.0	41.0	45.0					19																	14274115		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14274115A>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.513T>G	19.37:g.14274115A>C						LPHN1_uc010xno.1_Silent_p.G166G|uc002myf.2_Intron	p.G171G	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			6	809	-			171			Olfactomedin-like.|Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.513T>G	CCDS32928.1																																																																																				0.652	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1		NM_014921		11	53	0	0	0	0.840704	0	11	53		
KMT2B	9757	broad.mit.edu	37	19	36223287	36223287	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:36223287C>T	ENST00000222270.7	+	28	5837	c.5837C>T	c.(5836-5838)tCa>tTa	p.S1946L	KMT2B_ENST00000420124.1_Missense_Mutation_p.S1946L|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1946					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCTCCTACCTCAGTCGTCACA	0.677																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(5836-5838)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia 4							26.0	32.0	30.0					19																	36223287		1998	4162	6160	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36223287C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5837C>T	19.37:g.36223287C>T	ENSP00000222270:p.Ser1946Leu						p.S1946L	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		29	5837	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1946					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5837C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850470	0.32699	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84070	-1.8;-1.8	4.53	4.53	0.55603	.	0.000000	0.36703	N	0.002450	D	0.82604	0.5073	L	0.51422	1.61	0.42982	D	0.994465	P	0.47409	0.895	P	0.46975	0.533	D	0.83707	0.0185	10	0.44086	T	0.13	.	16.5444	0.84410	0.0:1.0:0.0:0.0	.	1946	Q9UMN6	MLL4_HUMAN	L	1946	ENSP00000222270:S1946L;ENSP00000398837:S1946L	ENSP00000222270:S1946L	S	+	2	0	AD000671.1	40915127	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	3.646000	0.54396	2.515000	0.84797	0.462000	0.41574	TCA		0.677	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		24	29	0	0	0	0.693898	0	24	29		
ZNF780B	163131	broad.mit.edu	37	19	40541026	40541026	+	Silent	SNP	G	G	A	rs200580886	byFrequency	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:40541026G>A	ENST00000434248.1	-	5	1805	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	ZNF780B_ENST00000221355.6_Silent_p.T432T	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	580					regulation of transcription, DNA-templated (GO:0006355)|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(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTTTCTTTCCGGTATGAATAC	0.388													A|||	3	0.000599042	0.0	0.0014	5008	,	,		24182	0.0		0.002	False		,,,				2504	0.0					uc002omu.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1738-1740)ACC>ACT		zinc finger protein 780B							106.0	113.0	111.0					19																	40541026		2203	4300	6503	SO:0001819	synonymous_variant	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541026G>A	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1740C>T	19.37:g.40541026G>A						ZNF780B_uc002omv.2_Silent_p.T432T	p.T580T	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			5	1805	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		580					B9EH00	Silent	SNP	ENST00000434248.1	37	c.1740C>T	CCDS46077.1																																																																																				0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1		NM_001005851		36	123	0	0	0	0.796494	0	36	123		
ERF	2077	broad.mit.edu	37	19	42752674	42752674	+	Silent	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:42752674C>A	ENST00000222329.4	-	4	1747	c.1590G>T	c.(1588-1590)gtG>gtT	p.V530V	ERF_ENST00000440177.2_Silent_p.V455V|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	530					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGTCAGAGCTCACCCGCCTTG	0.711																																						uc002ote.3		NaN																	0				lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1588-1590)GTG>GTT		Ets2 repressor factor							21.0	26.0	24.0					19																	42752674		2200	4282	6482	SO:0001819	synonymous_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42752674C>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1590G>T	19.37:g.42752674C>A						ERF_uc002otd.3_Silent_p.V261V	p.V530V	NM_006494	NP_006485	P50548	ERF_HUMAN			4	1748	-		Prostate(69;0.00682)	530					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	ENST00000222329.4	37	c.1590G>T	CCDS12600.1																																																																																				0.711	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1		NM_006494		48	72	1	0	2.68985e-26	0.870114	3.05428e-26	48	72		
ZNF234	10780	broad.mit.edu	37	19	44662014	44662014	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:44662014G>C	ENST00000426739.2	+	6	2103	c.1845G>C	c.(1843-1845)caG>caC	p.Q615H	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q615H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	615					regulation of transcription, DNA-templated (GO:0006355)|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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AACTTCATCAGAGTGTCCACA	0.473																																						uc002oym.2		NaN																	0					0						c.(1843-1845)CAG>CAC		zinc finger protein 234							134.0	143.0	140.0					19																	44662014		2198	4296	6494	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44662014G>C	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1845G>C	19.37:g.44662014G>C	ENSP00000400878:p.Gln615His					ZNF234_uc002oyl.3_Missense_Mutation_p.Q615H	p.Q615H	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	2152	+		Prostate(69;0.0435)	615			C2H2-type 17.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1845G>C	CCDS46101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.629177|2.629177	0.46944|0.46944	.|.	.|.	ENSG00000167380|ENSG00000167380	ENST00000536276|ENST00000426739	.|T	.|0.18502	.|2.21	4.01|4.01	-0.997|-0.997	0.10215|0.10215	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.31231|0.31231	0.0790|0.0790	M|M	0.62088|0.62088	1.915|1.915	0.21675|0.21675	N|N	0.999591|0.999591	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	T|T	0.11842|0.11842	-1.0571|-1.0571	6|9	0.72032|0.52906	D|T	0.01|0.07	.|.	5.0145|5.0145	0.14330|0.14330	0.084:0.2601:0.5223:0.1337|0.084:0.2601:0.5223:0.1337	.|.	.|615	.|Q14588	.|ZN234_HUMAN	Q|H	8|615	.|ENSP00000400878:Q615H	ENSP00000445120:E8Q|ENSP00000400878:Q615H	E|Q	+|+	1|3	0|2	ZNF226|ZNF226	49353854|49353854	0.001000|0.001000	0.12720|0.12720	0.095000|0.095000	0.20976|0.20976	0.973000|0.973000	0.67179|0.67179	0.743000|0.743000	0.26231|0.26231	0.114000|0.114000	0.18032|0.18032	0.585000|0.585000	0.79938|0.79938	GAG|CAG		0.473	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2				55	81	0	0	0	0.870114	0	55	81		
PNMAL1	55228	broad.mit.edu	37	19	46973800	46973800	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:46973800C>G	ENST00000313683.10	-	2	798	c.493G>C	c.(493-495)Gat>Cat	p.D165H	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.D165H	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	165										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ATCTCGGCATCCATGCAGAAG	0.622																																						uc002peq.3		NaN																	0					0						c.(493-495)GAT>CAT		PNMA-like 1 isoform a							53.0	58.0	56.0					19																	46973800		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46973800C>G	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.493G>C	19.37:g.46973800C>G	ENSP00000318131:p.Asp165His					PNMAL1_uc002per.3_Missense_Mutation_p.D165H	p.D165H	NM_018215	NP_060685	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	799	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	165					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.493G>C	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837330	0.50951	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.11063	2.81;2.81	3.46	2.39	0.29439	.	0.000000	0.40385	N	0.001111	T	0.24890	0.0604	M	0.63428	1.95	0.18873	N	0.999987	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.01290	-1.1394	10	0.52906	T	0.07	-18.4965	8.7007	0.34323	0.0:0.7661:0.2339:0.0	.	165;165	Q86V59-2;Q86V59	.;PNML1_HUMAN	H	165	ENSP00000410273:D165H;ENSP00000318131:D165H	ENSP00000318131:D165H	D	-	1	0	PNMAL1	51665640	0.627000	0.27129	0.184000	0.23157	0.169000	0.22640	0.650000	0.24858	0.998000	0.38996	0.655000	0.94253	GAT		0.622	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1		NM_018215		121	175	0	0	0	0.870114	0	121	175		
FAM71E1	112703	broad.mit.edu	37	19	50978631	50978631	+	Silent	SNP	A	A	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:50978631A>G	ENST00000600100.1	-	3	854	c.490T>C	c.(490-492)Ttg>Ctg	p.L164L	FAM71E1_ENST00000595790.1_Silent_p.L148L|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000376918.3_5'Flank|EMC10_ENST00000334976.6_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	164										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCCAGAAGCAATAGGTCCGGG	0.647																																						uc002psh.2		NaN																	0				breast(1)	1						c.(490-492)TTG>CTG		hypothetical protein LOC112703							40.0	39.0	39.0					19																	50978631		2202	4299	6501	SO:0001819	synonymous_variant	112703							g.chr19:50978631A>G		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.490T>C	19.37:g.50978631A>G						FAM71E1_uc002psg.2_Silent_p.L148L|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	p.L164L	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	3	848	-		all_neural(266;0.131)	164					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.490T>C																																																																																					0.647	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2				14	36	0	0	0	0.457914	0	14	36		
MBOAT7	79143	broad.mit.edu	37	19	54677813	54677813	+	Silent	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:54677813A>C	ENST00000245615.1	-	8	1824	c.1344T>G	c.(1342-1344)ggT>ggG	p.G448G	MBOAT7_ENST00000431666.2_Silent_p.G375G|MBOAT7_ENST00000338624.6_Silent_p.G375G|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000376591.4_5'Flank|TMC4_ENST00000476013.2_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	448					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCTGCCCCCACCTAAAGCCA	0.662																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NaN																	0					0						c.(1342-1344)GGT>GGG		membrane bound O-acyltransferase domain							31.0	32.0	32.0					19																	54677813		2203	4300	6503	SO:0001819	synonymous_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54677813A>C	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1344T>G	19.37:g.54677813A>C						TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Silent_p.G132G|MBOAT7_uc010yem.1_Silent_p.G430G|MBOAT7_uc002qdr.2_Silent_p.G448G|MBOAT7_uc002qds.2_Silent_p.G375G|MBOAT7_uc010yen.1_Silent_p.G375G	p.G448G	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			9	1610	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		448			Helical; (Potential).		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	c.1344T>G	CCDS12883.1																																																																																				0.662	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1		NM_024298		10	105	0	0	0	0.479597	0	10	105		
SLC4A1AP	22950	broad.mit.edu	37	2	27898484	27898484	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:27898484G>A	ENST00000326019.6	+	6	1713	c.1431G>A	c.(1429-1431)ctG>ctA	p.L477L		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	477						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGACTGGCCTGATTGAGAAGA	0.398																																						uc002rlk.3		NaN																	0					0						c.(1429-1431)CTG>CTA		solute carrier family 4 (anion exchanger),							102.0	106.0	105.0					2																	27898484		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27898484G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1431G>A	2.37:g.27898484G>A							p.L477L	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			6	1713	+	Acute lymphoblastic leukemia(172;0.155)		477					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.1431G>A	CCDS33166.1																																																																																				0.398	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1		NM_018158		30	61	0	0	0	0.729181	0	30	61		
EFEMP1	2202	broad.mit.edu	37	2	56108800	56108800	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:56108800G>T	ENST00000394555.2	-	5	1022	c.587C>A	c.(586-588)tCc>tAc	p.S196Y	EFEMP1_ENST00000424836.2_Missense_Mutation_p.S138Y|EFEMP1_ENST00000355426.3_Missense_Mutation_p.S196Y|EFEMP1_ENST00000394554.1_Missense_Mutation_p.S196Y	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	196	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATGCAAAGGATCCCCGTAA	0.507																																					GBM(92;934 1319 7714 28760 40110)	uc002rzh.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(586-588)TCC>TAC		EGF-containing fibulin-like extracellular matrix							265.0	199.0	221.0					2																	56108800		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56108800G>T	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.587C>A	2.37:g.56108800G>T	ENSP00000378058:p.Ser196Tyr					EFEMP1_uc002rzi.2_Missense_Mutation_p.S196Y|EFEMP1_uc002rzj.2_Missense_Mutation_p.S196Y|EFEMP1_uc010ypc.1_Missense_Mutation_p.S138Y	p.S196Y	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	917	-			196			EGF-like 2; calcium-binding (Potential).		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.587C>A	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966529	0.74131	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.9	5.9	0.94986	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000006	D	0.98353	0.9453	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.98735	1.0714	10	0.87932	D	0	.	20.27	0.98469	0.0:0.0:1.0:0.0	.	138;196	B4DW75;Q12805	.;FBLN3_HUMAN	Y	196;196;52;138;196	ENSP00000378058:S196Y;ENSP00000378057:S196Y;ENSP00000399145:S138Y;ENSP00000347596:S196Y	ENSP00000347596:S196Y	S	-	2	0	EFEMP1	55962304	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	9.106000	0.94253	2.790000	0.95986	0.650000	0.86243	TCC		0.507	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2				27	48	1	0	7.76418e-22	0.693898	8.48756e-22	27	48		
ATOH8	84913	broad.mit.edu	37	2	85982034	85982034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:85982034C>G	ENST00000306279.3	+	1	1018	c.722C>G	c.(721-723)aCg>aGg	p.T241R	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	241	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGGAGCGGACGCGGGTGCAC	0.706																																						uc002sqn.2		NaN																	0					0						c.(721-723)ACG>AGG		atonal homolog 8							17.0	21.0	20.0					2																	85982034		2117	4117	6234	SO:0001583	missense	84913				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:85982034C>G	AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"""Basic helix-loop-helix proteins"""	24126	protein-coding gene	gene with protein product	"""basic helix loop helix transcription factor 6"""					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.722C>G	2.37:g.85982034C>G	ENSP00000304676:p.Thr241Arg					ATOH8_uc002sqm.3_Missense_Mutation_p.T241R	p.T241R	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN			1	1126	+			241			Basic motif.		Q504S2|Q659B0	Missense_Mutation	SNP	ENST00000306279.3	37	c.722C>G	CCDS1985.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433646	0.83776	.	.	ENSG00000168874	ENST00000306279	D	0.97041	-4.22	3.79	3.79	0.43588	Helix-loop-helix DNA-binding (5);	0.058246	0.64402	D	0.000002	D	0.95265	0.8464	N	0.05554	-0.025	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.974	D	0.93340	0.6709	10	0.23302	T	0.38	-0.0196	13.9484	0.64101	0.0:1.0:0.0:0.0	.	241;241	Q96SQ7;Q96SQ7-2	ATOH8_HUMAN;.	R	241	ENSP00000304676:T241R	ENSP00000304676:T241R	T	+	2	0	ATOH8	85835545	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.075000	0.57584	2.411000	0.81874	0.462000	0.41574	ACG		0.706	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252496.1		NM_032827		70	101	0	0	0	0.870114	0	70	101		
LYG2	254773	broad.mit.edu	37	2	99858848	99858848	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:99858848G>T	ENST00000409238.1	-	5	638	c.618C>A	c.(616-618)ttC>ttA	p.F206L	LYG2_ENST00000333017.2_Missense_Mutation_p.F206L|LYG2_ENST00000423800.1_3'UTR			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	206					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GTCTTTTATAGAACTTAGCTC	0.463																																						uc002szw.1		NaN																	0				ovary(1)	1						c.(616-618)TTC>TTA		lysozyme G-like 2 precursor							124.0	118.0	120.0					2																	99858848		2203	4300	6503	SO:0001583	missense	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99858848G>T	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.618C>A	2.37:g.99858848G>T	ENSP00000386939:p.Phe206Leu					MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_3'UTR	p.F206L	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN			6	731	-			206					Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	c.618C>A	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712675	0.30413	.	.	ENSG00000185674	ENST00000409238;ENST00000333017	.	.	.	5.35	2.35	0.29111	Lysozyme-like domain (1);	0.199284	0.36101	N	0.002783	T	0.46483	0.1395	M	0.73598	2.24	0.32813	D	0.50173	B	0.33826	0.427	B	0.32211	0.142	T	0.54695	-0.8255	8	.	.	.	-17.8122	6.5176	0.22256	0.3053:0.0:0.6947:0.0	.	206	Q86SG7	LYG2_HUMAN	L	206	.	.	F	-	3	2	LYG2	99225280	1.000000	0.71417	0.964000	0.40570	0.067000	0.16453	1.279000	0.33191	0.810000	0.34279	0.655000	0.94253	TTC		0.463	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1		NM_175735		58	100	1	0	1.4709e-25	0.870114	1.64891e-25	58	100		
GCC2	9648	broad.mit.edu	37	2	109103046	109103046	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:109103046C>T	ENST00000309863.6	+	16	4586	c.3872C>T	c.(3871-3873)aCg>aTg	p.T1291M		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1291					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CACCAGCGTACGCTAAGTGCA	0.502																																						uc002tec.2		NaN																	0				ovary(1)	1						c.(3871-3873)ACG>ATG		GRIP and coiled-coil domain-containing 2							103.0	95.0	98.0					2																	109103046		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109103046C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3872C>T	2.37:g.109103046C>T	ENSP00000307939:p.Thr1291Met					GCC2_uc002ted.2_Missense_Mutation_p.T1190M	p.T1291M	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			16	4026	+			1291			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3872C>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231335	0.39399	.	.	ENSG00000135968	ENST00000309863	T	0.34275	1.37	5.6	3.75	0.43078	.	0.225320	0.45126	D	0.000381	T	0.36936	0.0985	M	0.67953	2.075	0.09310	N	1	D	0.56521	0.976	P	0.44477	0.451	T	0.35798	-0.9774	10	0.59425	D	0.04	.	8.4297	0.32750	0.0:0.7325:0.128:0.1394	.	1291	Q8IWJ2	GCC2_HUMAN	M	1291	ENSP00000307939:T1291M	ENSP00000307939:T1291M	T	+	2	0	GCC2	108469478	0.036000	0.19791	0.163000	0.22734	0.313000	0.28021	1.467000	0.35321	1.377000	0.46286	0.655000	0.94253	ACG		0.502	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		40	43	0	0	0	0.812448	0	40	43		
NFE2L2	4780	broad.mit.edu	37	2	178098953	178098953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:178098953C>G	ENST00000397062.3	-	2	646	c.92G>C	c.(91-93)gGa>gCa	p.G31A	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15A|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	31					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G31A(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCGACTTACTCCAAGATCTAT	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		5	Substitution - Missense(5)	p.G31R(1)	lung(3)|oesophagus(1)|skin(1)	central_nervous_system(1)	1						c.(91-93)GGA>GCA		nuclear factor erythroid 2-like 2 isoform 1							70.0	63.0	65.0					2																	178098953		1841	4101	5942	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098953C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.92G>C	2.37:g.178098953C>G	ENSP00000380252:p.Gly31Ala	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.G15A|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15A|NFE2L2_uc002uli.3_Missense_Mutation_p.G15A|NFE2L2_uc010fra.2_Missense_Mutation_p.G15A|NFE2L2_uc010frb.2_Missense_Mutation_p.G15A	p.G31A	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	647	-			31					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.92G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199409	0.79015	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	15;15;15;31	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	A	15;31;15;15;15;15;15	ENSP00000380253:G15A;ENSP00000380252:G31A;ENSP00000411575:G15A;ENSP00000391590:G15A;ENSP00000400073:G15A;ENSP00000412191:G15A;ENSP00000410015:G15A	ENSP00000380252:G31A	G	-	2	0	NFE2L2	177807199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.737000	0.93849	0.563000	0.77884	GGA		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		22	39	0	0	0	0.608945	0	22	39		
TTN	7273	broad.mit.edu	37	2	179412782	179412782	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179412782C>T	ENST00000591111.1	-	289	88872	c.88648G>A	c.(88648-88650)Gat>Aat	p.D29550N	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22251N|TTN_ENST00000460472.2_Missense_Mutation_p.D22126N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22318N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D31191N|TTN_ENST00000342992.6_Missense_Mutation_p.D28623N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29550	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TAGCCAGCATCATTCTTGGCC	0.458																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85867-85869)GAT>AAT		titin isoform N2-A							88.0	90.0	90.0					2																	179412782		1910	4123	6033	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412782C>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.88648G>A	2.37:g.179412782C>T	ENSP00000465570:p.Asp29550Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22318N|TTN_uc010zfi.1_Missense_Mutation_p.D22251N|TTN_uc010zfj.1_Missense_Mutation_p.D22126N	p.D28623N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	86091	-			29550					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.85867G>A		.	.	.	.	.	.	.	.	.	.	C	16.61	3.170914	0.57584	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.65	3.83	0.44106	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41305	0.1153	L	0.35341	1.055	0.52099	D	0.999946	B;B;B;B	0.23442	0.004;0.004;0.004;0.085	B;B;B;B	0.23275	0.009;0.009;0.016;0.045	T	0.40156	-0.9578	9	0.87932	D	0	.	10.3134	0.43723	0.0:0.7903:0.0:0.2097	.	22126;22251;22318;29550	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	28623;22126;22318;22251;22123	ENSP00000343764:D28623N;ENSP00000434586:D22126N;ENSP00000340554:D22318N;ENSP00000352154:D22251N	ENSP00000340554:D22318N	D	-	1	0	TTN	179121028	1.000000	0.71417	0.886000	0.34754	0.934000	0.57294	3.322000	0.52007	1.351000	0.45789	0.655000	0.94253	GAT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		34	68	0	0	0	0.750413	0	34	68		
TTN	7273	broad.mit.edu	37	2	179412881	179412881	+	Missense_Mutation	SNP	C	C	G	rs397517757		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179412881C>G	ENST00000591111.1	-	289	88773	c.88549G>C	c.(88549-88551)Gac>Cac	p.D29517H	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22218H|TTN_ENST00000460472.2_Missense_Mutation_p.D22093H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22285H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D31158H|TTN_ENST00000342992.6_Missense_Mutation_p.D28590H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29517	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ACCCAGAAGTCAGATCCCTTT	0.468																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85768-85770)GAC>CAC		titin isoform N2-A							183.0	186.0	185.0					2																	179412881		1958	4151	6109	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412881C>G	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.88549G>C	2.37:g.179412881C>G	ENSP00000465570:p.Asp29517His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22285H|TTN_uc010zfi.1_Missense_Mutation_p.D22218H|TTN_uc010zfj.1_Missense_Mutation_p.D22093H	p.D28590H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85992	-			29517					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.85768G>C		.	.	.	.	.	.	.	.	.	.	C	14.32	2.499015	0.44455	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.65	3.79	0.43588	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63390	0.2507	M	0.66378	2.025	0.50313	D	0.999861	P;P;P;P	0.38335	0.627;0.627;0.627;0.627	P;P;P;P	0.51516	0.672;0.672;0.672;0.672	T	0.67300	-0.5705	9	0.87932	D	0	.	11.6618	0.51352	0.0:0.8088:0.1237:0.0675	.	22093;22218;22285;29517	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28590;22093;22285;22218;22090	ENSP00000343764:D28590H;ENSP00000434586:D22093H;ENSP00000340554:D22285H;ENSP00000352154:D22218H	ENSP00000340554:D22285H	D	-	1	0	TTN	179121127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.934000	0.63491	1.377000	0.46286	-0.150000	0.13652	GAC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		88	163	0	0	0	0.870114	0	88	163		
TTN	7273	broad.mit.edu	37	2	179412928	179412928	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179412928C>T	ENST00000591111.1	-	289	88726	c.88502G>A	c.(88501-88503)gGc>gAc	p.G29501D	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22202D|TTN_ENST00000460472.2_Missense_Mutation_p.G22077D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22269D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G31142D|TTN_ENST00000342992.6_Missense_Mutation_p.G28574D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29501	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GATCCGGCTGCCTCCATCGTG	0.498																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85720-85722)GGC>GAC		titin isoform N2-A							154.0	155.0	155.0					2																	179412928		1996	4183	6179	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412928C>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.88502G>A	2.37:g.179412928C>T	ENSP00000465570:p.Gly29501Asp					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G22269D|TTN_uc010zfi.1_Missense_Mutation_p.G22202D|TTN_uc010zfj.1_Missense_Mutation_p.G22077D	p.G28574D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85945	-			29501					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.85721G>A		.	.	.	.	.	.	.	.	.	.	C	18.00	3.524900	0.64747	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84009	0.5378	M	0.90483	3.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86758	0.1965	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	22077;22202;22269;29501	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	28574;22077;22269;22202;22074	ENSP00000343764:G28574D;ENSP00000434586:G22077D;ENSP00000340554:G22269D;ENSP00000352154:G22202D	ENSP00000340554:G22269D	G	-	2	0	TTN	179121174	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	GGC		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		74	130	0	0	0	0.870114	0	74	130		
TTN	7273	broad.mit.edu	37	2	179413248	179413248	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179413248C>T	ENST00000591111.1	-	289	88406	c.88182G>A	c.(88180-88182)ttG>ttA	p.L29394L	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.L22095L|TTN_ENST00000460472.2_Silent_p.L21970L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L22162L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.L31035L|TTN_ENST00000342992.6_Silent_p.L28467L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29394	Fibronectin type-III 114. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CATCCCACATCAATGTAGCAG	0.507																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85399-85401)TTG>TTA		titin isoform N2-A							180.0	177.0	178.0					2																	179413248		1952	4154	6106	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413248C>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.88182G>A	2.37:g.179413248C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L22162L|TTN_uc010zfi.1_Silent_p.L22095L|TTN_uc010zfj.1_Silent_p.L21970L	p.L28467L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85625	-			29394					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	Silent	SNP	ENST00000591111.1	37	c.85401G>A																																																																																					0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		99	175	0	0	0	0.870114	0	99	175		
TTN	7273	broad.mit.edu	37	2	179413427	179413427	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179413427C>T	ENST00000591111.1	-	289	88227	c.88003G>A	c.(88003-88005)Gat>Aat	p.D29335N	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22036N|TTN_ENST00000460472.2_Missense_Mutation_p.D21911N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22103N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D30976N|TTN_ENST00000342992.6_Missense_Mutation_p.D28408N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29335	Ig-like 134.				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)			CTGAAGGAATCTGTTGTATGG	0.448																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85222-85224)GAT>AAT		titin isoform N2-A							131.0	125.0	127.0					2																	179413427		1954	4143	6097	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413427C>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.88003G>A	2.37:g.179413427C>T	ENSP00000465570:p.Asp29335Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22103N|TTN_uc010zfi.1_Missense_Mutation_p.D22036N|TTN_uc010zfj.1_Missense_Mutation_p.D21911N	p.D28408N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85446	-			29335					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.85222G>A		.	.	.	.	.	.	.	.	.	.	C	16.89	3.247877	0.59103	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.22	4.33	0.51752	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31482	0.0798	N	0.17764	0.52	0.54753	D	0.999983	B;B;B;B	0.28233	0.056;0.056;0.056;0.204	B;B;B;B	0.27170	0.077;0.077;0.077;0.077	T	0.17899	-1.0354	9	0.87932	D	0	.	15.3913	0.74747	0.1406:0.8594:0.0:0.0	.	21911;22036;22103;29335	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	28408;21911;22103;22036;21908	ENSP00000343764:D28408N;ENSP00000434586:D21911N;ENSP00000340554:D22103N;ENSP00000352154:D22036N	ENSP00000340554:D22103N	D	-	1	0	TTN	179121673	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.776000	0.85560	1.291000	0.44653	0.563000	0.77884	GAT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		38	72	0	0	0	0.812448	0	38	72		
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	uc002uue.2		NaN		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					5	Substitution - Missense(5)		haematopoietic_and_lymphoid_tissue(5)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(1873-1875)CGT>TGT		splicing factor 3b, subunit 1 isoform 1							93.0	90.0	91.0					2																	198267484		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys						p.R625C	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1921	-			625			HEAT 3.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	SF3B1	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2				30	49	0	0	0	0.740014	0	30	49		
NIF3L1	60491	broad.mit.edu	37	2	201756682	201756682	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:201756682G>A	ENST00000409020.1	+	2	310	c.16G>A	c.(16-18)Gta>Ata	p.V6I	PPIL3_ENST00000465823.1_5'Flank|NIF3L1_ENST00000409357.1_Missense_Mutation_p.V6I|PPIL3_ENST00000286175.8_5'Flank|PPIL3_ENST00000409449.1_5'Flank|NIF3L1_ENST00000409588.1_Missense_Mutation_p.V6I|PPIL3_ENST00000392283.4_5'Flank|NIF3L1_ENST00000359683.4_Intron|NIF3L1_ENST00000416651.1_Missense_Mutation_p.V6I|PPIL3_ENST00000409361.1_5'Flank			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	6					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GTCATCTTGCGTACGCCCAGT	0.438																																						uc002uwm.2		NaN																	0				skin(1)	1						c.(16-18)GTA>ATA		NIF3 NGG1 interacting factor 3-like 1 isoform 1							99.0	84.0	89.0					2																	201756682		692	1591	2283	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201756682G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.16G>A	2.37:g.201756682G>A	ENSP00000386394:p.Val6Ile					PPIL3_uc002uwh.2_5'Flank|PPIL3_uc002uwi.2_5'Flank|PPIL3_uc002uwj.2_5'Flank|PPIL3_uc002uwk.2_5'Flank|NIF3L1_uc002uwl.2_Intron|NIF3L1_uc002uwn.2_Intron|NIF3L1_uc002uwo.2_Missense_Mutation_p.V6I|NIF3L1_uc002uwp.2_Missense_Mutation_p.V6I|NIF3L1_uc002uwq.2_Missense_Mutation_p.V6I	p.V6I	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			2	107	+			6					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.16G>A	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357437	0.41801	.	.	ENSG00000196290	ENST00000416651;ENST00000454952;ENST00000409020;ENST00000409357;ENST00000374679;ENST00000409588	T;T;T	0.44083	0.93;0.93;0.93	5.19	2.36	0.29203	.	.	.	.	.	T	0.28034	0.0691	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.19844	-1.0293	9	0.46703	T	0.11	0.0077	6.8375	0.23945	0.1604:0.3337:0.506:0.0	.	6;6	Q6X735;Q9GZT8	.;NIF3L_HUMAN	I	6	ENSP00000400787:V6I;ENSP00000386394:V6I;ENSP00000387315:V6I	ENSP00000363811:V6I	V	+	1	0	NIF3L1	201464927	0.000000	0.05858	0.002000	0.10522	0.677000	0.39632	0.003000	0.13083	0.276000	0.22118	0.455000	0.32223	GTA		0.438	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1		NM_021824		15	24	0	0	0	0.457914	0	15	24		
USP37	57695	broad.mit.edu	37	2	219360635	219360635	+	Silent	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:219360635C>A	ENST00000258399.3	-	14	1732	c.1320G>T	c.(1318-1320)ctG>ctT	p.L440L	USP37_ENST00000415516.1_Silent_p.L368L|USP37_ENST00000418019.1_Silent_p.L440L|USP37_ENST00000454775.1_Silent_p.L440L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	440	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TATCTTCTTTCAGCTGGTCCA	0.343																																						uc002vie.2		NaN																	0				skin(3)|ovary(1)|prostate(1)	5						c.(1318-1320)CTG>CTT		ubiquitin specific peptidase 37							72.0	76.0	74.0					2																	219360635		2203	4300	6503	SO:0001819	synonymous_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219360635C>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1320G>T	2.37:g.219360635C>A						USP37_uc010fvs.1_Silent_p.L440L|USP37_uc010zkf.1_Silent_p.L440L|USP37_uc002vif.2_Silent_p.L440L|USP37_uc002vig.2_Silent_p.L368L	p.L440L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	14	1773	-		Renal(207;0.0915)	440					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	c.1320G>T	CCDS2418.1																																																																																				0.343	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3		NM_020935		36	63	1	0	4.62619e-21	0.796494	5.02598e-21	36	63		
ZNF142	7701	broad.mit.edu	37	2	219503085	219503085	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:219503085G>C	ENST00000449707.1	-	10	5462	c.5041C>G	c.(5041-5043)Ccc>Gcc	p.P1681A	ZNF142_ENST00000411696.2_Missense_Mutation_p.P1681A	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1681					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCAGTGTGGGGAGCGGCAGGA	0.627																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(5041-5043)CCC>GCC		zinc finger protein 142							24.0	26.0	25.0					2																	219503085		2028	4186	6214	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503085G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.5041C>G	2.37:g.219503085G>C	ENSP00000408643:p.Pro1681Ala					ZNF142_uc002vil.2_Missense_Mutation_p.P1642A|ZNF142_uc010fvt.2_Missense_Mutation_p.P1518A|ZNF142_uc002vim.2_Missense_Mutation_p.P1518A	p.P1681A	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	5477	-		Renal(207;0.0474)	1681					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.5041C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571022	0.65765	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.12569	2.67;2.67	5.2	4.32	0.51571	.	0.547535	0.17906	N	0.158001	T	0.11879	0.0289	L	0.39898	1.24	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.14896	-1.0456	10	0.56958	D	0.05	-13.7572	8.2093	0.31473	0.0864:0.158:0.7556:0.0	.	1681;1518	P52746;A8MWU9	ZN142_HUMAN;.	A	1681	ENSP00000408643:P1681A;ENSP00000398798:P1681A	ENSP00000398798:P1681A	P	-	1	0	ZNF142	219211329	0.919000	0.31177	0.004000	0.12327	0.301000	0.27625	2.830000	0.48136	1.513000	0.48852	0.609000	0.83330	CCC		0.627	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1		NM_005081		14	26	0	0	0	0.557998	0	14	26		
ZNF142	7701	broad.mit.edu	37	2	219503172	219503172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:219503172G>A	ENST00000449707.1	-	10	5375	c.4954C>T	c.(4954-4956)Cag>Tag	p.Q1652*	ZNF142_ENST00000411696.2_Nonsense_Mutation_p.Q1652*	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1652					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCACACCCTGGTTTGGGTCG	0.622																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(4954-4956)CAG>TAG		zinc finger protein 142							50.0	55.0	53.0					2																	219503172		2098	4200	6298	SO:0001587	stop_gained	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503172G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4954C>T	2.37:g.219503172G>A	ENSP00000408643:p.Gln1652*					ZNF142_uc002vil.2_Nonsense_Mutation_p.Q1613*|ZNF142_uc010fvt.2_Nonsense_Mutation_p.Q1489*|ZNF142_uc002vim.2_Nonsense_Mutation_p.Q1489*	p.Q1652*	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	5390	-		Renal(207;0.0474)	1652					Q92510	Nonsense_Mutation	SNP	ENST00000449707.1	37	c.4954C>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	48	14.859976	0.99813	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	.	.	.	5.92	5.03	0.67393	.	0.214453	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-28.3448	13.656	0.62339	0.0:0.0:0.602:0.3979	.	.	.	.	X	1652	.	ENSP00000398798:Q1652X	Q	-	1	0	ZNF142	219211416	1.000000	0.71417	0.962000	0.40283	0.963000	0.63663	2.032000	0.41127	1.467000	0.48044	0.609000	0.83330	CAG		0.622	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1		NM_005081		30	66	0	0	0	0.788014	0	30	66		
INHA	3623	broad.mit.edu	37	2	220439578	220439578	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:220439578C>A	ENST00000243786.2	+	2	611	c.431C>A	c.(430-432)gCc>gAc	p.A144D	OBSL1_ENST00000491370.1_5'Flank|INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	144					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCACAGCAGCCTCCAATAGC	0.642																																						uc002vmk.1		NaN																	0				ovary(1)	1						c.(430-432)GCC>GAC		inhibin alpha subunit precursor							37.0	35.0	36.0					2																	220439578		2203	4300	6503	SO:0001583	missense	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439578C>A		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.431C>A	2.37:g.220439578C>A	ENSP00000243786:p.Ala144Asp						p.A144D	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	575	+		Renal(207;0.0183)	144					A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	c.431C>A	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611179	0.66558	.	.	ENSG00000123999	ENST00000243786	D	0.85629	-2.01	4.96	2.05	0.26809	.	0.671044	0.14541	N	0.313264	D	0.87787	0.6265	M	0.84683	2.71	0.28608	N	0.90884	D	0.55800	0.973	P	0.52881	0.712	T	0.78828	-0.2050	10	0.30854	T	0.27	-1.9687	5.8635	0.18762	0.0:0.6374:0.1382:0.2244	.	144	P05111	INHA_HUMAN	D	144	ENSP00000243786:A144D	ENSP00000243786:A144D	A	+	2	0	INHA	220147822	0.000000	0.05858	0.509000	0.27700	0.978000	0.69477	0.807000	0.27140	0.682000	0.31407	0.561000	0.74099	GCC		0.642	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1				52	61	1	0	7.34454e-26	0.870114	8.28615e-26	52	61		
DOCK10	55619	broad.mit.edu	37	2	225653783	225653783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:225653783C>G	ENST00000258390.7	-	48	5483	c.5416G>C	c.(5416-5418)Gag>Cag	p.E1806Q	DOCK10_ENST00000409592.3_Missense_Mutation_p.E1800Q	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1806	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GGTCTAACCTCATTGTATGGT	0.393																																						uc010fwz.1		NaN																	0				ovary(2)	2						c.(5416-5418)GAG>CAG		dedicator of cytokinesis 10							159.0	135.0	143.0					2																	225653783		1911	4126	6037	SO:0001583	missense	55619						GTP binding	g.chr2:225653783C>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5416G>C	2.37:g.225653783C>G	ENSP00000258390:p.Glu1806Gln					DOCK10_uc002vob.2_Missense_Mutation_p.E1800Q|DOCK10_uc002voa.2_Missense_Mutation_p.E462Q|DOCK10_uc002voc.2_Missense_Mutation_p.E627Q	p.E1806Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	48	5655	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1806			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5416G>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542079	0.85917	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.22134	1.97;1.97	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.989	D;D;D;P	0.87578	0.993;0.987;0.998;0.829	T	0.56529	-0.7964	10	0.87932	D	0	.	20.2079	0.98282	0.0:1.0:0.0:0.0	.	1806;627;1800;468	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	Q	1800;1806;311	ENSP00000386694:E1800Q;ENSP00000258390:E1806Q	ENSP00000258390:E1806Q	E	-	1	0	DOCK10	225362027	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	7.476000	0.81055	2.781000	0.95711	0.655000	0.94253	GAG		0.393	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1				6	21	0	0	0	0.217242	0	6	21		
SP140	11262	broad.mit.edu	37	2	231113635	231113635	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:231113635G>A	ENST00000392045.3	+	9	1042	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	SP140_ENST00000343805.6_Missense_Mutation_p.E284K|SP140_ENST00000417495.3_Missense_Mutation_p.E257K|SP140_ENST00000420434.3_Missense_Mutation_p.E310K|SP140_ENST00000486687.2_Missense_Mutation_p.E234K|SP140_ENST00000350136.5_Missense_Mutation_p.E240K	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	310					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTCACTAATGAAGGAGAACC	0.398																																						uc002vql.2		NaN																	0					0						c.(928-930)GAA>AAA		SP140 nuclear body protein isoform 1							128.0	113.0	118.0					2																	231113635		1813	4074	5887	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231113635G>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.928G>A	2.37:g.231113635G>A	ENSP00000375899:p.Glu310Lys					SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.E310K|SP140_uc002vqn.2_Missense_Mutation_p.E257K|SP140_uc002vqm.2_Missense_Mutation_p.E284K|SP140_uc010fxl.2_Missense_Mutation_p.E310K	p.E310K	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	9	1043	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	310					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.928G>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	g	4.584	0.108566	0.08780	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.60424	0.51;1.02;0.64;0.19;0.67	2.56	-2.19	0.07015	.	.	.	.	.	T	0.28067	0.0692	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.001;0.002;0.001;0.003	B;B;B;B;B	0.09377	0.001;0.002;0.004;0.002;0.002	T	0.25257	-1.0137	9	0.05721	T	0.95	.	3.6945	0.08358	0.478:0.2007:0.3213:0.0	.	310;257;284;310;310	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75	.;.;.;LY10_HUMAN;.	K	234;310;240;310;257;284;310	ENSP00000440107:E234K;ENSP00000345846:E240K;ENSP00000375899:E310K;ENSP00000342096:E284K;ENSP00000398210:E310K	ENSP00000342096:E284K	E	+	1	0	SP140	230821879	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.268000	0.08607	-0.611000	0.05709	-0.448000	0.05591	GAA		0.398	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1		NM_007237		30	66	0	0	0	0.740014	0	30	66		
PSMD1	5707	broad.mit.edu	37	2	231947666	231947666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:231947666G>A	ENST00000308696.6	+	13	1645	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	PSMD1_ENST00000409643.1_Missense_Mutation_p.D495N|PSMD1_ENST00000373635.4_Missense_Mutation_p.D495N	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	495					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGATGTTTATGATTTGCTAAA	0.363																																						uc002vrn.1		NaN																	0				ovary(1)|skin(1)	2						c.(1483-1485)GAT>AAT		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						118.0	115.0	116.0					2																	231947666		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231947666G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1483G>A	2.37:g.231947666G>A	ENSP00000309474:p.Asp495Asn					PSMD1_uc002vrm.1_Missense_Mutation_p.D495N|PSMD1_uc010fxu.1_Missense_Mutation_p.D359N	p.D495N	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	13	1614	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	495			PC 3.		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1483G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458977	0.84317	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.33654	1.4;1.4;1.4	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.099926	0.64402	D	0.000001	T	0.31575	0.0801	N	0.25825	0.765	0.80722	D	1	B;B	0.28439	0.212;0.08	B;B	0.25140	0.058;0.027	T	0.04268	-1.0964	10	0.49607	T	0.09	-25.544	20.6208	0.99490	0.0:0.0:1.0:0.0	.	495;495	Q99460;Q99460-2	PSMD1_HUMAN;.	N	495	ENSP00000309474:D495N;ENSP00000362738:D495N;ENSP00000386932:D495N	ENSP00000309474:D495N	D	+	1	0	PSMD1	231655910	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.727000	0.98787	2.882000	0.98803	0.655000	0.94253	GAT		0.363	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2				25	40	0	0	0	0.681144	0	25	40		
BAGE2	85319	broad.mit.edu	37	21	11058303	11058303	+	RNA	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr21:11058303G>A	ENST00000470054.1	-	0	344							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGCTCCAAAGTGCTTACAAA	0.388																																						uc002yit.1		NaN																	0					0						c.(136-138)ACT>ATT		B melanoma antigen family, member 2 precursor							145.0	106.0	118.0					21																	11058303		692	1591	2283			85319							g.chr21:11058303G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058303G>A						BAGE_uc002yiw.1_RNA	p.T46I	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	3	345	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.137C>T																																																																																					0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3		NM_182482		10	268	0	0	0	0.435327	0	10	268		
LTN1	26046	broad.mit.edu	37	21	30365173	30365173	+	5'UTR	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr21:30365173C>A	ENST00000361371.5	-	0	33				LTN1_ENST00000389195.2_Missense_Mutation_p.R31L|LTN1_ENST00000389194.2_Missense_Mutation_p.R31L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1						protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCGGTTGACACGTCCGGGACA	0.622																																						uc002ymr.2		NaN																	0					0						c.(91-93)CGT>CTT		zinc finger protein 294							56.0	46.0	50.0					21																	30365173		2203	4300	6503	SO:0001623	5_prime_UTR_variant	26046						ligase activity|zinc ion binding	g.chr21:30365173C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.-47G>T	21.37:g.30365173C>A							p.R31L	NM_015565	NP_056380	O94822	LTN1_HUMAN			1	105	-			Error:Variant_position_missing_in_O94822_after_alignment					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.92G>T		.	.	.	.	.	.	.	.	.	.	C	2.707	-0.269584	0.05716	.	.	ENSG00000198862	ENST00000389194;ENST00000389195	T;T	0.29655	1.97;1.56	4.93	4.93	0.64822	.	.	.	.	.	T	0.17959	0.0431	N	0.08118	0	0.39590	D	0.969571	.	.	.	.	.	.	T	0.13072	-1.0523	7	0.19147	T	0.46	.	9.4873	0.38937	0.1439:0.7792:0.0:0.0768	.	.	.	.	L	31	ENSP00000373846:R31L;ENSP00000373847:R31L	ENSP00000373846:R31L	R	-	2	0	LTN1	29287044	0.483000	0.25956	0.265000	0.24526	0.005000	0.04900	2.354000	0.44098	2.561000	0.86390	0.655000	0.94253	CGT		0.622	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1		NM_015565		22	44	1	0	0.000229342	0.608945	0.000234675	22	44		
TMEM50B	757	broad.mit.edu	37	21	34823156	34823156	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr21:34823156T>C	ENST00000542230.2	-	7	660	c.446A>G	c.(445-447)aAa>aGa	p.K149R	TMEM50B_ENST00000468874.2_5'Flank	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	149						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						TCTTCCAAATTTGTAGATCAG	0.348																																						uc002yrt.1		NaN																	0				ovary(1)|skin(1)	2						c.(445-447)AAA>AGA		transmembrane protein 50B							97.0	99.0	98.0					21																	34823156		2203	4300	6503	SO:0001583	missense	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34823156T>C	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.446A>G	21.37:g.34823156T>C	ENSP00000439768:p.Lys149Arg					TMEM50B_uc002yrs.1_RNA|TMEM50B_uc010gmb.1_RNA	p.K149R	NM_006134	NP_006125	P56557	TM50B_HUMAN			7	624	-			149					B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	ENST00000542230.2	37	c.446A>G	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383211	0.61845	.	.	ENSG00000142188	ENST00000542230	T	0.34072	1.38	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	M	0.76574	2.34	0.58432	D	0.999999	B	0.28350	0.208	B	0.37304	0.246	T	0.33292	-0.9874	10	0.07644	T	0.81	-24.71	14.9254	0.70875	0.0:0.0:0.0:1.0	.	149	P56557	TM50B_HUMAN	R	149	ENSP00000439768:K149R	ENSP00000371390:K149R	K	-	2	0	TMEM50B	33745026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.212000	0.72188	2.182000	0.69389	0.482000	0.46254	AAA		0.348	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5				38	45	0	0	0	0.840704	0	38	45		
CECR6	27439	broad.mit.edu	37	22	17600373	17600373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:17600373G>A	ENST00000331437.3	-	1	1770	c.1645C>T	c.(1645-1647)Cag>Tag	p.Q549*	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_Nonsense_Mutation_p.Q194*	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	549										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GAGCCTCCCTGAGGTGGTGGC	0.687																																						uc002zmb.2		NaN																	0					0						c.(1645-1647)CAG>TAG		cat eye syndrome chromosome region, candidate 6							18.0	17.0	17.0					22																	17600373		2201	4300	6501	SO:0001587	stop_gained	27439							g.chr22:17600373G>A	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1645C>T	22.37:g.17600373G>A	ENSP00000329318:p.Gln549*					CECR6_uc002zma.2_Nonsense_Mutation_p.Q194*|uc002zmc.2_5'Flank	p.Q549*	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	1841	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	549					A8MYY1	Nonsense_Mutation	SNP	ENST00000331437.3	37	c.1645C>T	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825226	0.96989	.	.	ENSG00000183307	ENST00000399875;ENST00000331437	.	.	.	4.26	4.26	0.50523	.	0.606388	0.15570	U	0.255503	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	14.5623	0.68148	0.0:0.0:1.0:0.0	.	.	.	.	X	194;549	.	ENSP00000329318:Q549X	Q	-	1	0	CECR6	15980373	.	.	0.998000	0.56505	0.374000	0.29953	.	.	2.367000	0.80283	0.561000	0.74099	CAG		0.687	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4		NM_031890		8	20	0	0	0	0.335167	0	8	20		
GNAZ	2781	broad.mit.edu	37	22	23438310	23438310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:23438310G>A	ENST00000248996.4	+	2	1094	c.428G>A	c.(427-429)cGc>cAc	p.R143H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	143					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGCTTCAGCCGCTCCAGCGAG	0.657																																						uc002zwu.1		NaN																	0				kidney(1)|skin(1)	2						c.(427-429)CGC>CAC		guanine nucleotide binding protein, alpha z							64.0	54.0	57.0					22																	23438310		2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438310G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.428G>A	22.37:g.23438310G>A	ENSP00000248996:p.Arg143His					RTDR1_uc002zwt.2_Intron	p.R143H	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	965	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		143					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.428G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571059	0.86542	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.90324	-2.65	4.85	3.83	0.44106	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.91009	0.7172	M	0.86651	2.83	0.80722	D	1	B	0.10296	0.003	B	0.01281	0.0	D	0.89337	0.3651	10	0.87932	D	0	.	12.4702	0.55783	0.0815:0.0:0.9185:0.0	.	143	P19086	GNAZ_HUMAN	H	143;91	ENSP00000248996:R143H	ENSP00000248996:R143H	R	+	2	0	GNAZ	21768310	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.597000	0.98273	1.200000	0.43188	-0.136000	0.14681	CGC		0.657	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1		NM_002073		7	140	0	0	0	0.361761	0	7	140		
MTFP1	51537	broad.mit.edu	37	22	30822725	30822725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:30822725G>A	ENST00000266263.5	+	2	438	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.E202K|MTFP1_ENST00000407550.3_Missense_Mutation_p.E30K|MTFP1_ENST00000355143.4_Missense_Mutation_p.E30K	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	30					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						TGAGGTGGGCGAGGCTTTCCG	0.602											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ahw.1		NaN																	0					0						c.(88-90)GAG>AAG		mitochondrial protein 18 kDa isoform a							92.0	78.0	83.0					22																	30822725		2203	4300	6503	SO:0001583	missense	51537				apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding	g.chr22:30822725G>A	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.88G>A	22.37:g.30822725G>A	ENSP00000266263:p.Glu30Lys		OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	820	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.E192K|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.E30K	p.E30K	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN			2	236	+			30					A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	ENST00000266263.5	37	c.88G>A	CCDS33635.1	.	.	.	.	.	.	.	.	.	.	G	37	6.074922	0.97262	.	.	ENSG00000249590;ENSG00000242114;ENSG00000242114;ENSG00000242114	ENST00000439838;ENST00000266263;ENST00000355143;ENST00000407550	T;D	0.94650	-1.27;-3.48	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98652	1.0680	10	0.87932	D	0	-9.7025	18.3461	0.90322	0.0:0.0:1.0:0.0	.	30;30	Q9UDX5-2;Q9UDX5	.;MTFP1_HUMAN	K	202;30;30;30	ENSP00000415178:E202K;ENSP00000383926:E30K	ENSP00000266263:E30K	E	+	1	0	MTFP1;RP4-539M6.19	29152725	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.947000	0.93000	2.638000	0.89438	0.655000	0.94253	GAG		0.602	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321126.3		NM_016498		37	73	0	0	0	0.870114	0	37	73		
HMGXB4	10042	broad.mit.edu	37	22	35684398	35684398	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:35684398G>A	ENST00000216106.5	+	9	1764	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E437K	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	546					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGGAAACTGAGGTGAATAC	0.438																																						uc003anl.2		NaN																	0				breast(1)|skin(1)	2						c.(1636-1638)GAG>AAG		high-mobility group protein 2-like 1							91.0	75.0	80.0					22																	35684398		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35684398G>A	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1636G>A	22.37:g.35684398G>A	ENSP00000216106:p.Glu546Lys					HMGXB4_uc003ank.2_Missense_Mutation_p.E437K	p.E546K	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN			9	1810	+			546					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.1636G>A	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367999	0.95900	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.25085	1.82;1.85	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.56589	-0.7954	10	0.87932	D	0	-23.6057	18.4568	0.90724	0.0:0.0:1.0:0.0	.	546	Q9UGU5	HMGX4_HUMAN	K	437;546	ENSP00000398302:E437K;ENSP00000216106:E546K	ENSP00000216106:E546K	E	+	1	0	HMGXB4	34014398	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.567000	0.98161	2.351000	0.79841	0.563000	0.77884	GAG		0.438	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2		NM_005487		25	53	0	0	0	0.681144	0	25	53		
KIAA0930	23313	broad.mit.edu	37	22	45601515	45601515	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:45601515G>T	ENST00000336156.5	-	4	475	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000251993.7_Missense_Mutation_p.S142Y|KIAA0930_ENST00000391627.2_Missense_Mutation_p.S103Y|KIAA0930_ENST00000443310.3_Missense_Mutation_p.S119Y	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	137										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GCTCACCTGAGATTTCTTCTT	0.597																																						uc003bfx.1		NaN																	0					0						c.(409-411)TCT>TAT		hypothetical protein LOC23313 isoform b							74.0	70.0	71.0					22																	45601515		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601515G>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.410C>A	22.37:g.45601515G>T	ENSP00000336720:p.Ser137Tyr					C22orf9_uc010gzw.1_5'UTR|C22orf9_uc003bfv.1_Missense_Mutation_p.S146Y|C22orf9_uc003bfw.1_Missense_Mutation_p.S142Y|C22orf9_uc010gzx.2_Missense_Mutation_p.S119Y	p.S137Y	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	4	476	-		Ovarian(80;0.00965)|all_neural(38;0.0244)	137					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.410C>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728496	0.48833	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.59	4.59	0.56863	.	0.058309	0.64402	D	0.000001	T	0.71350	0.3329	M	0.67397	2.05	0.54753	D	0.999985	P;P;P;P	0.48503	0.911;0.487;0.631;0.759	P;B;B;P	0.52386	0.697;0.255;0.23;0.454	T	0.76394	-0.2975	9	0.87932	D	0	-16.4993	15.9647	0.79961	0.0:0.0:1.0:0.0	.	119;137;142;208	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	Y	137;22;142;103;119;103;119	.	ENSP00000251993:S142Y	S	-	2	0	KIAA0930	43980179	1.000000	0.71417	0.976000	0.42696	0.728000	0.41692	7.108000	0.77055	2.275000	0.75901	0.561000	0.74099	TCT		0.597	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2		NM_001009880		41	81	1	0	7.63091e-17	0.834066	8.09061e-17	41	81		
IL5RA	3568	broad.mit.edu	37	3	3144421	3144421	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:3144421G>C	ENST00000446632.2	-	4	740	c.166C>G	c.(166-168)Caa>Gaa	p.Q56E	IL5RA_ENST00000438560.1_Missense_Mutation_p.Q56E|IL5RA_ENST00000311981.8_Missense_Mutation_p.Q56E|IL5RA_ENST00000383846.1_Missense_Mutation_p.Q56E|IL5RA_ENST00000418488.2_Missense_Mutation_p.Q56E|IL5RA_ENST00000430514.2_Missense_Mutation_p.Q56E|IL5RA_ENST00000445864.2_Missense_Mutation_p.Q56E|IL5RA_ENST00000456302.1_Missense_Mutation_p.Q56E|IL5RA_ENST00000256452.3_Missense_Mutation_p.Q56E|SNORA43_ENST00000517240.1_RNA	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	56	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CTTTGCTCTTGATCAGGATTT	0.333																																					GBM(169;430 2801 24955 28528)	uc011ask.1		NaN																	0				ovary(1)	1						c.(166-168)CAA>GAA		interleukin 5 receptor, alpha isoform 1							97.0	94.0	95.0					3																	3144421		2203	4300	6503	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3144421G>C	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.166C>G	3.37:g.3144421G>C	ENSP00000412209:p.Gln56Glu					IL5RA_uc010hbq.2_Missense_Mutation_p.Q56E|IL5RA_uc010hbr.2_Missense_Mutation_p.Q56E|IL5RA_uc010hbs.2_Missense_Mutation_p.Q56E|IL5RA_uc011asl.1_Missense_Mutation_p.Q56E|IL5RA_uc011asm.1_Missense_Mutation_p.Q56E|IL5RA_uc010hbt.2_Missense_Mutation_p.Q56E|IL5RA_uc011asn.1_Missense_Mutation_p.Q56E|IL5RA_uc010hbu.2_Missense_Mutation_p.Q56E	p.Q56E	NM_000564	NP_000555	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	5	810	-			56			Extracellular (Potential).		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.166C>G	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133468	0.37630	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.24;1.48;1.03;1.03;1.03;1.03;1.52;1.03	4.8	2.93	0.34026	Immunoglobulin-like fold (1);	0.594677	0.16163	N	0.226654	T	0.56804	0.2010	M	0.74258	2.255	0.28333	N	0.921689	D;D;D;D;D;D	0.71674	0.997;0.998;0.998;0.997;0.992;0.972	P;D;D;P;D;P	0.66084	0.906;0.941;0.941;0.906;0.939;0.709	T	0.50048	-0.8873	10	0.21540	T	0.41	-4.6602	8.9856	0.35992	0.0:0.1622:0.6695:0.1683	.	56;56;56;56;56;56	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	E	56	ENSP00000412209:Q56E;ENSP00000390753:Q56E;ENSP00000256452:Q56E;ENSP00000388858:Q56E;ENSP00000402598:Q56E;ENSP00000373358:Q56E;ENSP00000309196:Q56E;ENSP00000400400:Q56E;ENSP00000392059:Q56E;ENSP00000398117:Q56E;ENSP00000391274:Q56E	ENSP00000256452:Q56E	Q	-	1	0	IL5RA	3119421	1.000000	0.71417	0.178000	0.23040	0.628000	0.37860	4.172000	0.58243	0.490000	0.27771	-0.321000	0.08615	CAA		0.333	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2				20	27	0	0	0	0.575678	0	20	27		
SCN10A	6336	broad.mit.edu	37	3	38739749	38739749	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:38739749G>A	ENST00000449082.2	-	27	4961	c.4962C>T	c.(4960-4962)ctC>ctT	p.L1654L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1654					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TAATCTGGAAGAGGCACAGCA	0.582																																						uc003ciq.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4960-4962)CTC>CTT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						132.0	130.0	131.0					3																	38739749		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739749G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4962C>T	3.37:g.38739749G>A							p.L1654L	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4962	-			1654			IV.		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4962C>T	CCDS33736.1																																																																																				0.582	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514		48	88	0	0	0	0.870114	0	48	88		
PROS1	5627	broad.mit.edu	37	3	93646147	93646147	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:93646147C>T	ENST00000394236.3	-	2	497	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	61	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTGCACAGTTCTTCGATGCAT	0.413																																						uc003drb.3		NaN																	0				large_intestine(1)	1						c.(181-183)GAA>AAA		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						112.0	109.0	110.0					3																	93646147		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646147C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.181G>A	3.37:g.93646147C>T	ENSP00000377783:p.Glu61Lys					PROS1_uc010hoo.2_5'UTR|PROS1_uc003dqz.3_5'UTR	p.E61K	NM_000313	NP_000304	P07225	PROS_HUMAN			2	522	-			61			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.181G>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264011	0.95399	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99981	-10.36;-10.36	4.53	4.53	0.55603	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.284991	0.33875	N	0.004463	D	0.99984	0.9995	H	0.97564	4.03	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98503	1.0615	10	0.87932	D	0	.	17.4197	0.87511	0.0:1.0:0.0:0.0	.	61	P07225	PROS_HUMAN	K	61;93	ENSP00000377783:E61K;ENSP00000330021:E93K	ENSP00000330021:E93K	E	-	1	0	PROS1	95128837	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.004000	0.76317	2.513000	0.84729	0.448000	0.29417	GAA		0.413	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1		NM_000313		31	75	0	0	0	0.740014	0	31	75		
IFT122	55764	broad.mit.edu	37	3	129195584	129195584	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:129195584T>A	ENST00000348417.2	+	11	1164	c.1087T>A	c.(1087-1089)Tat>Aat	p.Y363N	IFT122_ENST00000349441.2_Missense_Mutation_p.Y252N|IFT122_ENST00000440957.2_Missense_Mutation_p.Y154N|IFT122_ENST00000507564.1_Missense_Mutation_p.Y355N|IFT122_ENST00000504021.1_Missense_Mutation_p.Y257N|IFT122_ENST00000296266.3_Missense_Mutation_p.Y414N|IFT122_ENST00000431818.2_Missense_Mutation_p.Y213N|IFT122_ENST00000347300.2_Missense_Mutation_p.Y304N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	363					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAAGGACCGCTATGCCTACAG	0.547																																						uc003emm.2		NaN																	0				ovary(1)|skin(1)	2						c.(1087-1089)TAT>AAT		WD repeat domain 10 isoform 2							92.0	88.0	89.0					3																	129195584		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129195584T>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1087T>A	3.37:g.129195584T>A	ENSP00000324005:p.Tyr363Asn					IFT122_uc003eml.2_Missense_Mutation_p.Y414N|IFT122_uc003emn.2_Missense_Mutation_p.Y304N|IFT122_uc003emo.2_Missense_Mutation_p.Y252N|IFT122_uc003emp.2_Missense_Mutation_p.Y213N|IFT122_uc010htc.2_Missense_Mutation_p.Y355N|IFT122_uc011bky.1_Missense_Mutation_p.Y154N|IFT122_uc003emq.2_Missense_Mutation_p.Y203N|IFT122_uc003emr.2_Missense_Mutation_p.Y154N|IFT122_uc011bla.1_Missense_Mutation_p.Y154N|IFT122_uc011bkx.1_Missense_Mutation_p.Y203N|IFT122_uc011bkz.1_RNA	p.Y363N	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			11	1293	+			363					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.1087T>A	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.792212|4.792212	0.90453|0.90453	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000512157;ENST00000515783|ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	.|T;T;T;D;T;T;T;D	.|0.89939	.|0.03;-1.12;-0.72;-2.59;0.11;0.19;-0.45;-2.59	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95778|0.95778	0.8626|0.8626	M|M	0.92604|0.92604	3.325|3.325	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.997;0.986;0.998;0.998;0.998;0.999;0.994;0.997	D|D	0.96753|0.96753	0.9555|0.9555	5|10	.|0.87932	.|D	.|0	-15.2088|-15.2088	15.8776|15.8776	0.79178|0.79178	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|154;355;257;203;252;304;363;414	.|E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.|.;.;.;.;.;.;IF122_HUMAN;.	Q|N	241;189|304;414;355;304;213;257;252;363;203;154	.|ENSP00000323973:Y304N;ENSP00000296266:Y414N;ENSP00000425536:Y355N;ENSP00000410946:Y213N;ENSP00000422179:Y257N;ENSP00000324165:Y252N;ENSP00000324005:Y363N;ENSP00000401569:Y154N	.|ENSP00000296266:Y414N	L|Y	+|+	2|1	0|0	IFT122|IFT122	130678274|130678274	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.951000|0.951000	0.60555|0.60555	7.651000|7.651000	0.83577|0.83577	2.146000|2.146000	0.66826|0.66826	0.482000|0.482000	0.46254|0.46254	CTA|TAT		0.547	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1		NM_018262		54	89	0	0	0	0.870114	0	54	89		
ABCC5	10057	broad.mit.edu	37	3	183689484	183689484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:183689484G>A	ENST00000334444.6	-	11	1868	c.1628C>T	c.(1627-1629)gCa>gTa	p.A543V	ABCC5_ENST00000265586.6_Missense_Mutation_p.A543V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	543					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)	TTTCTGCTCTGCCAGCACCGC	0.597																																						uc003fmg.2		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1627-1629)GCA>GTA		ATP-binding cassette, sub-family C, member 5							90.0	96.0	94.0					3																	183689484		2113	4238	6351	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.chr3:183689484G>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.1628C>T	3.37:g.183689484G>A	ENSP00000333926:p.Ala543Val					ABCC5_uc011bqt.1_Missense_Mutation_p.A71V|ABCC5_uc010hxl.2_Missense_Mutation_p.A543V	p.A543V	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		11	1793	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		543					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1628C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151343	0.57151	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91945	-2.72;-2.94	5.66	5.66	0.87406	ABC transporter, transmembrane domain, type 1 (1);	0.157843	0.52532	D	0.000079	D	0.84790	0.5550	N	0.08118	0	0.47441	D	0.999429	B;B	0.13594	0.008;0.002	B;B	0.14023	0.004;0.01	T	0.78398	-0.2219	10	0.27785	T	0.31	-6.4038	19.7481	0.96258	0.0:0.0:1.0:0.0	.	543;543	Q86UX3;O15440	.;MRP5_HUMAN	V	543;479;543	ENSP00000333926:A543V;ENSP00000265586:A543V	ENSP00000265586:A543V	A	-	2	0	ABCC5	185172178	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	4.657000	0.61490	2.668000	0.90789	0.655000	0.94253	GCA		0.597	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1		NM_005688		49	100	0	0	0	0.870114	0	49	100		
MB21D2	151963	broad.mit.edu	37	3	192516318	192516318	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:192516318C>G	ENST00000392452.2	-	2	1653	c.1333G>C	c.(1333-1335)Ggg>Cgg	p.G445R		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	445							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGGGGTCCCCTCCGTCAGAC	0.567																																						uc011bsp.1		NaN																	0					0						c.(1333-1335)GGG>CGG		hypothetical protein LOC151963							95.0	98.0	97.0					3																	192516318		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516318C>G	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1333G>C	3.37:g.192516318C>G	ENSP00000376246:p.Gly445Arg						p.G445R	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1654	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		445					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.1333G>C	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514605	0.64522	.	.	ENSG00000180611	ENST00000392452	T	0.44881	0.91	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.29908	0.895	0.80722	D	1	P	0.48911	0.917	B	0.43478	0.421	T	0.23940	-1.0174	10	0.49607	T	0.09	-9.7861	17.908	0.88925	0.0:1.0:0.0:0.0	.	445	Q8IYB1	M21D2_HUMAN	R	445	ENSP00000376246:G445R	ENSP00000376246:G445R	G	-	1	0	MB21D2	193999012	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	5.593000	0.67550	2.450000	0.82876	0.650000	0.86243	GGG		0.567	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1		NM_178496		69	217	0	0	0	0.870114	0	69	217		
PPARGC1A	10891	broad.mit.edu	37	4	23814419	23814419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:23814419C>T	ENST00000264867.2	-	10	2089	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	657	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTCAGACTCTCGCTTCTCATA	0.453																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NaN																	0				ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1969-1971)CGA>CAA		peroxisome proliferator-activated receptor							182.0	171.0	174.0					4																	23814419		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23814419C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1970G>A	4.37:g.23814419C>T	ENSP00000264867:p.Arg657Gln					PPARGC1A_uc003gqt.2_RNA	p.R657Q	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			10	2090	-		Breast(46;0.0503)	657					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1970G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569031	0.65765	.	.	ENSG00000109819	ENST00000264867	T	0.24350	1.86	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.78801	2.425	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.49960	-0.8883	10	0.36615	T	0.2	-5.7527	19.0395	0.92992	0.0:1.0:0.0:0.0	.	657	Q9UBK2	PRGC1_HUMAN	Q	657	ENSP00000264867:R657Q	ENSP00000264867:R657Q	R	-	2	0	PPARGC1A	23423517	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.778000	0.68940	2.486000	0.83907	0.655000	0.94253	CGA		0.453	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1		NM_013261		68	97	0	0	0	0.870114	0	68	97		
PPARGC1A	10891	broad.mit.edu	37	4	23815883	23815883	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:23815883C>G	ENST00000264867.2	-	8	1342	c.1223G>C	c.(1222-1224)aGa>aCa	p.R408T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	408	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTCTAGTTGTCTAGAGTCTTG	0.448																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NaN																	0				ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1222-1224)AGA>ACA		peroxisome proliferator-activated receptor							71.0	71.0	71.0					4																	23815883		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815883C>G	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1223G>C	4.37:g.23815883C>G	ENSP00000264867:p.Arg408Thr					PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.R408T	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			8	1343	-		Breast(46;0.0503)	408					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1223G>C	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518306	0.64634	.	.	ENSG00000109819	ENST00000264867	T	0.23950	1.88	6.16	5.32	0.75619	.	0.231906	0.46442	D	0.000298	T	0.52500	0.1738	M	0.78637	2.42	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.56896	-0.7903	10	0.56958	D	0.05	-0.4512	15.4433	0.75204	0.0:0.9339:0.0:0.0661	.	408	Q9UBK2	PRGC1_HUMAN	T	408	ENSP00000264867:R408T	ENSP00000264867:R408T	R	-	2	0	PPARGC1A	23424981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.020000	0.49643	1.612000	0.50221	0.650000	0.86243	AGA		0.448	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1		NM_013261		22	40	0	0	0	0.608945	0	22	40		
SDAD1	55153	broad.mit.edu	37	4	76882456	76882456	+	Missense_Mutation	SNP	T	T	C	rs369140120		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:76882456T>C	ENST00000356260.5	-	15	1305	c.1187A>G	c.(1186-1188)aAt>aGt	p.N396S	SDAD1_ENST00000395711.4_Missense_Mutation_p.N359S|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	396				N -> S (in Ref. 1; CAH18368). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTATAGCATTGATTCTAGA	0.368																																						uc003hje.3		NaN																	0				ovary(1)	1						c.(1186-1188)AAT>AGT		SDA1 domain containing 1		T	SER/ASN	0,4406		0,0,2203	89.0	85.0	86.0		1187	5.2	1.0	4		86	3,8597	2.2+/-6.3	0,3,4297	no	missense	SDAD1	NM_018115.2	46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	396/688	76882456	3,13003	2203	4300	6503	SO:0001583	missense	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76882456T>C	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1187A>G	4.37:g.76882456T>C	ENSP00000348596:p.Asn396Ser					SDAD1_uc003hjf.3_Missense_Mutation_p.N299S|SDAD1_uc011cbr.1_Missense_Mutation_p.N359S	p.N396S	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	1306	-			396	N -> S (in Ref. 1; CAH18368).				Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.1187A>G	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342451	0.81911	0.0	3.49E-4	ENSG00000198301	ENST00000356260;ENST00000395711	T;D	0.85629	2.73;-2.01	5.24	5.24	0.73138	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94039	0.8090	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.95073	0.8206	10	0.62326	D	0.03	-29.1375	13.4081	0.60926	0.0:0.0:0.0:1.0	.	359;396	E7EW05;Q9NVU7	.;SDA1_HUMAN	S	396;359	ENSP00000348596:N396S;ENSP00000379061:N359S	ENSP00000348596:N396S	N	-	2	0	SDAD1	77101480	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.393000	0.79851	2.330000	0.79161	0.528000	0.53228	AAT		0.368	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3		NM_018115		44	59	0	0	0	0.864702	0	44	59		
GAB1	2549	broad.mit.edu	37	4	144359278	144359278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:144359278G>A	ENST00000262994.4	+	4	1022	c.720G>A	c.(718-720)atG>atA	p.M240I	GAB1_ENST00000262995.4_Missense_Mutation_p.M240I|GAB1_ENST00000505913.1_Missense_Mutation_p.M137I	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	240					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AGCAGCAAATGATATACGACT	0.448																																						uc003ije.2		NaN																	0				breast(2)|lung(1)|skin(1)	4						c.(718-720)ATG>ATA		GRB2-associated binding protein 1 isoform b							84.0	83.0	83.0					4																	144359278		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144359278G>A	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.720G>A	4.37:g.144359278G>A	ENSP00000262994:p.Met240Ile					GAB1_uc003ijd.2_Missense_Mutation_p.M240I|GAB1_uc011chq.1_Missense_Mutation_p.M137I	p.M240I	NM_002039	NP_002030	Q13480	GAB1_HUMAN			4	1079	+	all_hematologic(180;0.158)		240					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.720G>A	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724300	0.30593	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.16897	2.79;2.79;2.31	5.17	3.37	0.38596	.	0.474225	0.25247	N	0.032044	T	0.11665	0.0284	L	0.36672	1.1	0.19300	N	0.99997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24261	-1.0165	10	0.22109	T	0.4	-11.8621	7.0863	0.25259	0.0:0.3237:0.3735:0.3029	.	240;240	Q13480;Q13480-2	GAB1_HUMAN;.	I	240;240;137	ENSP00000262995:M240I;ENSP00000262994:M240I;ENSP00000424554:M137I	ENSP00000262994:M240I	M	+	3	0	GAB1	144578728	0.999000	0.42202	0.754000	0.31244	0.929000	0.56500	1.103000	0.31062	1.156000	0.42514	0.655000	0.94253	ATG		0.448	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1		NM_002039		23	42	0	0	0	0.654019	0	23	42		
FGG	2266	broad.mit.edu	37	4	155530854	155530854	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:155530854C>T	ENST00000336098.3	-	6	632	c.594G>A	c.(592-594)ctG>ctA	p.L198L	FGG_ENST00000407946.1_Silent_p.L206L|FGG_ENST00000404648.3_Silent_p.L198L|FGG_ENST00000405164.1_Silent_p.L206L	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	198	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGTTAGCTTTCAGAGGTTTAA	0.393																																						uc003ioj.2		NaN																	0					0						c.(592-594)CTG>CTA		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						112.0	110.0	111.0					4																	155530854		2203	4300	6503	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155530854C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.594G>A	4.37:g.155530854C>T						FGG_uc003iog.2_Silent_p.L198L|FGG_uc003ioh.2_Silent_p.L206L|FGG_uc010ipx.2_Silent_p.L26L|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Silent_p.L206L	p.L198L	NM_021870	NP_068656	P02679	FIBG_HUMAN			6	735	-	all_hematologic(180;0.215)	Renal(120;0.0458)	198			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.594G>A	CCDS3788.1																																																																																				0.393	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1		NM_021870		36	76	0	0	0	0.796494	0	36	76		
CFAP97	57587	broad.mit.edu	37	4	186111887	186111887	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:186111887G>C	ENST00000458385.2	-	2	583	c.464C>G	c.(463-465)tCt>tGt	p.S155C	KIAA1430_ENST00000514798.1_Missense_Mutation_p.S155C|KIAA1430_ENST00000296775.6_Missense_Mutation_p.S155C	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		155										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AACGTTAGTAGATGGTTTAGC	0.383																																						uc003ixf.3		NaN																	0					0						c.(463-465)TCT>TGT		hypothetical protein LOC57587							65.0	64.0	65.0					4																	186111887		1918	4111	6029	SO:0001583	missense	57587							g.chr4:186111887G>C																												ENST00000458385.2:c.464C>G	4.37:g.186111887G>C	ENSP00000409964:p.Ser155Cys					KIAA1430_uc003ixg.2_Missense_Mutation_p.S155C	p.S155C	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	611	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	155					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.464C>G	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198513	0.38806	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.47177	0.85;0.85;0.85	5.38	5.38	0.77491	.	0.714876	0.13116	N	0.412580	T	0.61825	0.2378	L	0.50333	1.59	0.09310	N	1	D;D	0.63880	0.993;0.979	P;P	0.56514	0.8;0.635	T	0.57636	-0.7777	10	0.72032	D	0.01	-0.0231	19.4972	0.95079	0.0:0.0:1.0:0.0	.	155;155	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	C	155	ENSP00000409964:S155C;ENSP00000423312:S155C;ENSP00000296775:S155C	ENSP00000296775:S155C	S	-	2	0	KIAA1430	186348881	0.570000	0.26651	0.006000	0.13384	0.001000	0.01503	4.317000	0.59184	2.668000	0.90789	0.563000	0.77884	TCT		0.383	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2				7	15	0	0	0	0.27861	0	7	15		
POLK	51426	broad.mit.edu	37	5	74865308	74865308	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:74865308G>C	ENST00000241436.4	+	4	571	c.399G>C	c.(397-399)atG>atC	p.M133I	POLK_ENST00000508526.1_Missense_Mutation_p.M133I|POLK_ENST00000515295.1_Missense_Mutation_p.M133I|POLK_ENST00000352007.5_Missense_Mutation_p.M133I|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Missense_Mutation_p.M133I|POLK_ENST00000380481.3_Missense_Mutation_p.M43I	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	133	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TAGGATCAATGAGTATGCTGG	0.368								DNA polymerases (catalytic subunits)																														uc003kdw.2		NaN																	0				ovary(2)|kidney(2)	4						c.(397-399)ATG>ATC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							91.0	83.0	86.0					5																	74865308		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74865308G>C	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.399G>C	5.37:g.74865308G>C	ENSP00000241436:p.Met133Ile					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kdz.2_Missense_Mutation_p.M133I|POLK_uc003kea.2_Missense_Mutation_p.M133I|POLK_uc003keb.2_Missense_Mutation_p.M133I|POLK_uc010izq.2_Missense_Mutation_p.M133I|POLK_uc003kec.2_Missense_Mutation_p.M43I|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.M43I|POLK_uc003kee.2_Missense_Mutation_p.M133I|POLK_uc003kef.2_Missense_Mutation_p.M43I	p.M133I	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	4	495	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	133			UmuC.		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.399G>C	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	9.343	1.063418	0.20067	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	6.03	5.11	0.69529	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.222709	0.64402	D	0.000010	T	0.63977	0.2557	L	0.37850	1.14	0.50171	D	0.999855	B;B;B;B	0.12630	0.005;0.005;0.005;0.006	B;B;B;B	0.25759	0.063;0.024;0.025;0.021	T	0.58306	-0.7659	10	0.30854	T	0.27	-0.1194	9.0244	0.36220	0.0788:0.0:0.7786:0.1426	.	133;133;133;133	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	I	133;133;133;133;133;133;43	ENSP00000241436:M133I;ENSP00000342256:M133I;ENSP00000425208:M133I;ENSP00000424174:M133I;ENSP00000425075:M133I;ENSP00000426853:M133I;ENSP00000369848:M43I	ENSP00000241436:M133I	M	+	3	0	POLK	74901064	1.000000	0.71417	0.992000	0.48379	0.493000	0.33554	6.573000	0.74009	1.429000	0.47314	0.557000	0.71058	ATG		0.368	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		NM_016218		20	33	0	0	0	0.592651	0	20	33		
PSD2	84249	broad.mit.edu	37	5	139215325	139215325	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:139215325C>G	ENST00000274710.3	+	9	1582	c.1377C>G	c.(1375-1377)atC>atG	p.I459M		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	459	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACTCCATCAAGAATGAAA	0.527																																						uc003leu.1		NaN																	0				ovary(1)	1						c.(1375-1377)ATC>ATG		pleckstrin and Sec7 domain containing 2							266.0	270.0	269.0					5																	139215325		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139215325C>G	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1377C>G	5.37:g.139215325C>G	ENSP00000274710:p.Ile459Met						p.I459M	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1582	+			459			SEC7.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1377C>G	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	c	16.72	3.200820	0.58234	.	.	ENSG00000146005	ENST00000274710	T	0.69685	-0.42	4.87	3.99	0.46301	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	H	0.98629	4.285	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	D	0.90510	0.4480	10	0.87932	D	0	.	10.9753	0.47463	0.0:0.9097:0.0:0.0903	.	459	Q9BQI7	PSD2_HUMAN	M	459	ENSP00000274710:I459M	ENSP00000274710:I459M	I	+	3	3	PSD2	139195509	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.396000	0.44468	2.261000	0.74972	0.462000	0.41574	ATC		0.527	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1		NM_032289		287	476	0	0	0	0.870114	0	287	476		
PCDHB3	56132	broad.mit.edu	37	5	140482583	140482583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:140482583G>A	ENST00000231130.2	+	1	2350	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	784					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E784K(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGGTTAGCGAGGCAAATCC	0.458																																						uc003lio.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(2350-2352)GAG>AAG		protocadherin beta 3 precursor							101.0	106.0	105.0					5																	140482583		2203	4299	6502	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482583G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2350G>A	5.37:g.140482583G>A	ENSP00000231130:p.Glu784Lys					uc003lin.2_5'Flank	p.E784K	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2350	+			784			Cytoplasmic (Potential).		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2350G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795901	0.31777	.	.	ENSG00000113205	ENST00000231130	T	0.12569	2.67	2.45	0.317	0.15861	.	.	.	.	.	T	0.10252	0.0251	L	0.45051	1.395	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33240	-0.9876	9	0.33940	T	0.23	.	4.432	0.11533	0.2432:0.2012:0.5555:0.0	.	784	Q9Y5E6	PCDB3_HUMAN	K	784	ENSP00000231130:E784K	ENSP00000231130:E784K	E	+	1	0	PCDHB3	140462767	0.024000	0.19004	0.001000	0.08648	0.452000	0.32318	0.974000	0.29436	0.115000	0.18071	0.491000	0.48974	GAG		0.458	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2		NM_018937		105	187	0	0	0	0.870114	0	105	187		
PCDHGA8	9708	broad.mit.edu	37	5	140774176	140774176	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:140774176G>T	ENST00000398604.2	+	1	1796	c.1796G>T	c.(1795-1797)gGc>gTc	p.G599V	PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	599	Cadherin 6. {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.G599V(3)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGACTCGGGCCAGAACGCC	0.706																																						uc003lkd.1		NaN																	3	Substitution - Missense(3)		kidney(3)		0						c.(1795-1797)GGC>GTC		protocadherin gamma subfamily A, 8 isoform 1																																				SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774176G>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1796G>T	5.37:g.140774176G>T	ENSP00000381605:p.Gly599Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.G599V	p.G599V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2694	+			599			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1796G>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.662262	0.67700	.	.	ENSG00000253767	ENST00000398604	T	0.21361	2.01	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	0.000000	0.31624	U	0.007336	T	0.68751	0.3035	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85054	0.0930	10	0.87932	D	0	.	17.843	0.88720	0.0:0.0:1.0:0.0	.	599;599	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	599	ENSP00000381605:G599V	ENSP00000381605:G599V	G	+	2	0	PCDHGA8	140754360	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	7.609000	0.82925	2.308000	0.77769	0.655000	0.94253	GGC		0.706	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1		NM_032088		14	153	1	0	3.27435e-08	0.457914	3.37009e-08	14	153		
NSD1	64324	broad.mit.edu	37	5	176709524	176709524	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:176709524G>T	ENST00000439151.2	+	19	5996	c.5951G>T	c.(5950-5952)cGa>cTa	p.R1984L	NSD1_ENST00000361032.4_Missense_Mutation_p.R1881L|NSD1_ENST00000347982.4_Missense_Mutation_p.R1715L|NSD1_ENST00000354179.4_Missense_Mutation_p.R1715L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1984	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		R -> Q (in SOTOS1; loss of enzyme activity). {ECO:0000269|PubMed:12807965}.		gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R1984Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCAGAGCTCGAATTCGCTAT	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NaN		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|kidney(1)	3	GRCh37	CM031304	NSD1	M		c.(5950-5952)CGA>CTA		nuclear receptor binding SET domain protein 1							212.0	208.0	209.0					5																	176709524		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176709524G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5951G>T	5.37:g.176709524G>T	ENSP00000395929:p.Arg1984Leu	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.R1715L|NSD1_uc011dfx.1_Missense_Mutation_p.R1632L	p.R1984L	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	19	6089	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1984		R -> Q (in SOTOSS; loss of enzyme activity).	SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5951G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415715	0.96092	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.77	5.77	0.91146	SET domain (3);	0.000000	0.48767	D	0.000166	D	0.97885	0.9305	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.98593	1.0655	10	0.87932	D	0	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	1715;1984	Q96L73-2;Q96L73	.;NSD1_HUMAN	L	1715;1984;1715;1881	ENSP00000346111:R1715L;ENSP00000395929:R1984L;ENSP00000343209:R1715L;ENSP00000354310:R1881L	ENSP00000343209:R1715L	R	+	2	0	NSD1	176642130	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.021000	0.88750	2.884000	0.98904	0.655000	0.94253	CGA		0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349		76	111	1	0	4.09166e-32	0.870114	4.67618e-32	76	111		
BRD2	6046	broad.mit.edu	37	6	32944408	32944408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:32944408C>T	ENST00000374825.4	+	7	2596	c.895C>T	c.(895-897)Cca>Tca	p.P299S	BRD2_ENST00000443797.2_Missense_Mutation_p.P179S|BRD2_ENST00000395289.2_Missense_Mutation_p.P299S|BRD2_ENST00000374831.4_Missense_Mutation_p.P299S|BRD2_ENST00000449085.2_Missense_Mutation_p.P252S|BRD2_ENST00000395287.1_Missense_Mutation_p.P299S	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	299					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						TCCTGGTTCTCCAGCTAGCCC	0.552																																						uc003ocn.3		NaN																	0				central_nervous_system(3)|stomach(2)	5						c.(895-897)CCA>TCA		bromodomain containing 2							116.0	100.0	106.0					6																	32944408		1511	2708	4219	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32944408C>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.895C>T	6.37:g.32944408C>T	ENSP00000363958:p.Pro299Ser					BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.P299S|BRD2_uc003ocp.3_Missense_Mutation_p.P179S|BRD2_uc010juh.2_Missense_Mutation_p.P299S	p.P299S	NM_005104	NP_005095	P25440	BRD2_HUMAN			7	2596	+			299					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.895C>T	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227156	0.39399	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.09445	3.15;3.15;3.07;2.98;3.07;3.13	5.33	5.33	0.75918	.	0.000000	0.49916	D	0.000125	T	0.02304	0.0071	N	0.22421	0.69	0.58432	D	0.999998	B;B	0.12013	0.005;0.005	B;B	0.14023	0.01;0.01	T	0.34453	-0.9828	10	0.07175	T	0.84	-13.3364	10.1342	0.42697	0.0:0.9116:0.0:0.0884	.	299;299	A2AAU0;P25440	.;BRD2_HUMAN	S	299;299;299;179;299;252	ENSP00000363958:P299S;ENSP00000363964:P299S;ENSP00000378704:P299S;ENSP00000413495:P179S;ENSP00000378702:P299S;ENSP00000409145:P252S	ENSP00000363958:P299S	P	+	1	0	BRD2	33052386	0.784000	0.28713	1.000000	0.80357	0.927000	0.56198	1.380000	0.34351	2.932000	0.99384	0.643000	0.83706	CCA		0.552	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2				82	141	0	0	0	0.870114	0	82	141		
MAPK14	1432	broad.mit.edu	37	6	36067964	36067964	+	Intron	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:36067964G>A	ENST00000229794.4	+	10	1150				MAPK14_ENST00000229795.3_Splice_Site|MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|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 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AGGCATCTAAGATATTAACCA	0.403																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	uc003olp.2		NaN																	0				ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						c.e9-1		mitogen-activated protein kinase 14 isoform 1							116.0	110.0	112.0					6																	36067964		2203	4300	6503	SO:0001627	intron_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36067964G>A	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.763-2384G>A	6.37:g.36067964G>A						MAPK14_uc003olo.2_Intron|MAPK14_uc003olq.2_Intron|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Intron	p.H228_splice	NM_001315	NP_001306	Q16539	MK14_HUMAN			9	1164	+								A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Splice_Site	SNP	ENST00000229794.4	37	c.683_splice	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136490	0.94517	.	.	ENSG00000112062	ENST00000229795	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPK14	36175942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	.		0.403	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1		NM_001315		63	108	0	0	0	0.870114	0	63	108		
MRPL14	64928	broad.mit.edu	37	6	44081613	44081613	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:44081613G>A	ENST00000372014.3	-	3	536	c.405C>T	c.(403-405)tcC>tcT	p.S135S		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	135					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CCAGCACCTTGGAATACTCGC	0.552																																						uc003owp.2		NaN																	0				ovary(1)	1						c.(403-405)TCC>TCT		mitochondrial ribosomal protein L14 precursor							57.0	51.0	53.0					6																	44081613		2203	4300	6503	SO:0001819	synonymous_variant	64928				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:44081613G>A	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.405C>T	6.37:g.44081613G>A							p.S135S	NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)		3	534	-	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		135					B2R575|Q96Q72	Silent	SNP	ENST00000372014.3	37	c.405C>T	CCDS34460.1																																																																																				0.552	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1		NM_032111		46	63	0	0	0	0.859065	0	46	63		
MDN1	23195	broad.mit.edu	37	6	90428326	90428326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:90428326C>T	ENST00000369393.3	-	43	6457	c.6342G>A	c.(6340-6342)tgG>tgA	p.W2114*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.W2114*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2114					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAGCCTCCTCCAAGGTCGTA	0.473																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(6340-6342)TGG>TGA		MDN1, midasin homolog							99.0	91.0	93.0					6																	90428326		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90428326C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6342G>A	6.37:g.90428326C>T	ENSP00000358400:p.Trp2114*						p.W2114*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	43	6458	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2114					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.6342G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	47	13.259841	0.99730	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	.	.	.	X	2114	.	ENSP00000358400:W2114X	W	-	3	0	MDN1	90485047	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	6.494000	0.73661	2.791000	0.96007	0.650000	0.86243	TGG		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				26	53	0	0	0	0.706142	0	26	53		
TNFAIP3	7128	broad.mit.edu	37	6	138192400	138192400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:138192400G>C	ENST00000237289.4	+	2	102	c.36G>C	c.(34-36)ttG>ttC	p.L12F		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	12					apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGTATTTGAGCAATATGC	0.388			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""						OREG0031869	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									GBM(130;153 1739 22295 28918 47987)	uc003qhr.2		NaN		Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		25	Whole gene deletion(25)	p.0?(22)	haematopoietic_and_lymphoid_tissue(25)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(34-36)TTG>TTC		tumor necrosis factor, alpha-induced protein 3							85.0	90.0	88.0					6																	138192400		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138192400G>C	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.36G>C	6.37:g.138192400G>C	ENSP00000237289:p.Leu12Phe		OREG0031869	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1639	TNFAIP3_uc003qhs.2_Missense_Mutation_p.L12F	p.L12F	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	2	102	+	Breast(32;0.135)|Colorectal(23;0.24)		12					B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.36G>C	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945277	0.53079	.	.	ENSG00000118503	ENST00000421450;ENST00000420009;ENST00000237289;ENST00000433680;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.31769	1.48;1.88	5.98	4.14	0.48551	.	0.222329	0.38381	N	0.001718	T	0.07503	0.0189	N	0.12182	0.205	0.36393	D	0.862647	D	0.55172	0.97	B	0.37304	0.246	T	0.07616	-1.0763	10	0.31617	T	0.26	-3.5316	15.0031	0.71489	0.0:0.2701:0.7299:0.0	.	12	P21580	TNAP3_HUMAN	F	12	ENSP00000401562:L12F;ENSP00000237289:L12F	ENSP00000237289:L12F	L	+	3	2	TNFAIP3	138234093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.946000	0.40283	0.797000	0.33971	0.655000	0.94253	TTG		0.388	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1				88	136	0	0	0	0.870114	0	88	136		
MAGI2	9863	broad.mit.edu	37	7	77797280	77797280	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:77797280C>T	ENST00000354212.4	-	15	2802	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	MAGI2_ENST00000522391.1_Missense_Mutation_p.R850H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R836H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	850	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGCCCATTGCGGGCTGCGTG	0.547																																						uc003ugx.2		NaN																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2548-2550)CGC>CAC		membrane associated guanylate kinase, WW and PDZ							221.0	200.0	207.0					7																	77797280		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797280C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2549G>A	7.37:g.77797280C>T	ENSP00000346151:p.Arg850His					MAGI2_uc003ugy.2_Missense_Mutation_p.R836H|MAGI2_uc010ldx.1_Missense_Mutation_p.R443H	p.R850H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			15	2803	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	850			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2549G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566765	0.96540	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.27557	1.66;1.66;1.66	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.36101	U	0.002791	T	0.51210	0.1661	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.45338	-0.9268	10	0.72032	D	0.01	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	850;836;850	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	H	836;850;850;850	ENSP00000405766:R836H;ENSP00000346151:R850H;ENSP00000428389:R850H	ENSP00000346151:R850H	R	-	2	0	MAGI2	77635216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.831000	0.97527	0.650000	0.86243	CGC		0.547	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301		82	145	0	0	0	0.870114	0	82	145		
CNPY4	245812	broad.mit.edu	37	7	99722457	99722457	+	Silent	SNP	A	A	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:99722457A>G	ENST00000262932.3	+	6	825	c.693A>G	c.(691-693)ggA>ggG	p.G231G	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	231						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					aggaaggggGAGACAAGATGA	0.547																																						uc003uto.2		NaN																	0					0						c.(691-693)GGA>GGG		canopy 4 homolog precursor							163.0	152.0	156.0					7																	99722457		2203	4300	6503	SO:0001819	synonymous_variant	245812					extracellular region		g.chr7:99722457A>G	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.693A>G	7.37:g.99722457A>G						MBLAC1_uc003utp.2_5'Flank	p.G231G	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN			6	796	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		231					Q8WUN9	Silent	SNP	ENST00000262932.3	37	c.693A>G	CCDS34701.1																																																																																				0.547	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4		NM_152755		181	260	0	0	0	0.870114	0	181	260		
LMOD2	442721	broad.mit.edu	37	7	123302716	123302716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:123302716G>A	ENST00000458573.2	+	2	1233	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	359						cytoskeleton (GO:0005856)		p.R359H(2)									AGGCAAAAACGTTTGCAGGAG	0.463																																						uc003vky.2		NaN																	2	Substitution - Missense(2)		prostate(1)|endometrium(1)		0						c.(1075-1077)CGT>CAT		leiomodin 2 (cardiac)							125.0	119.0	121.0					7																	123302716		1961	4166	6127	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302716G>A	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1076G>A	7.37:g.123302716G>A	ENSP00000411932:p.Arg359His						p.R359H	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			2	1233	+			359					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1076G>A	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899748	0.91962	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.93426	-3.22	5.11	5.11	0.69529	.	.	.	.	.	D	0.96549	0.8874	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.96968	0.9706	9	0.87932	D	0	.	18.8957	0.92423	0.0:0.0:1.0:0.0	.	359	Q6P5Q4	LMOD2_HUMAN	H	359;319;330	ENSP00000411932:R359H	ENSP00000405123:R330H	R	+	2	0	LMOD2	123089952	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.768000	0.98965	2.539000	0.85634	0.313000	0.20887	CGT		0.463	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1				58	77	0	0	0	0.870114	0	58	77		
UBE3C	9690	broad.mit.edu	37	7	157060438	157060438	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:157060438G>C	ENST00000348165.5	+	23	3601	c.3241G>C	c.(3241-3243)Gag>Cag	p.E1081Q		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1081	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGCTGGCTTTGAGCTGAGCTG	0.547																																						uc010lqs.2		NaN																	0				ovary(2)|lung(2)|large_intestine(1)	5						c.(3241-3243)GAG>CAG		ubiquitin protein ligase E3C							101.0	97.0	99.0					7																	157060438		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157060438G>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.3241G>C	7.37:g.157060438G>C	ENSP00000309198:p.Glu1081Gln					UBE3C_uc003wni.3_Missense_Mutation_p.E444Q	p.E1081Q	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	23	3553	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	1081			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.3241G>C	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216858	0.95104	.	.	ENSG00000009335	ENST00000348165	T	0.59502	0.26	5.22	5.22	0.72569	HECT (3);	0.097777	0.64402	D	0.000002	T	0.79753	0.4500	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83136	-0.0111	10	0.72032	D	0.01	-27.103	18.7943	0.91988	0.0:0.0:1.0:0.0	.	1081;934	Q15386;B4DHJ9	UBE3C_HUMAN;.	Q	1081	ENSP00000309198:E1081Q	ENSP00000309198:E1081Q	E	+	1	0	UBE3C	156753199	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	9.267000	0.95665	2.428000	0.82296	0.650000	0.86243	GAG		0.547	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1		NM_014671		104	130	0	0	0	0.870114	0	104	130		
ZFHX4	79776	broad.mit.edu	37	8	77767336	77767336	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:77767336T>C	ENST00000521891.2	+	10	8627	c.8179T>C	c.(8179-8181)Tac>Cac	p.Y2727H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y2701H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y2682H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y2682H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2682					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCACAGAAATACATCTATTT	0.428										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8044-8046)TAC>CAC		zinc finger homeodomain 4							85.0	83.0	83.0					8																	77767336		1889	4109	5998	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767336T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8179T>C	8.37:g.77767336T>C	ENSP00000430497:p.Tyr2727His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Y2727H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Y2682H	p.Y2682H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8431	+			2682					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8044T>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	10.01	1.233407	0.22626	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49720	0.77;0.82;0.79;0.78	5.13	5.13	0.70059	.	0.000000	0.40469	U	0.001085	T	0.59459	0.2195	L	0.48642	1.525	0.58432	D	0.999997	D;D;D	0.64830	0.989;0.994;0.994	D;D;D	0.78314	0.962;0.983;0.991	T	0.53049	-0.8493	10	0.17369	T	0.5	.	15.0939	0.72217	0.0:0.0:0.0:1.0	.	2682;2682;2727	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2727;2711;2682;2682;2701	ENSP00000430497:Y2727H;ENSP00000399605:Y2682H;ENSP00000050961:Y2682H;ENSP00000430848:Y2701H	ENSP00000050961:Y2682H	Y	+	1	0	ZFHX4	77929891	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	6.127000	0.71642	2.161000	0.67846	0.454000	0.30748	TAC		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		13	40	0	0	0	0.411799	0	13	40		
UBR5	51366	broad.mit.edu	37	8	103277452	103277452	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:103277452C>G	ENST00000520539.1	-	53	8083	c.7477G>C	c.(7477-7479)Gat>Cat	p.D2493H	UBR5_ENST00000521922.1_Missense_Mutation_p.D2486H|UBR5_ENST00000220959.4_Missense_Mutation_p.D2492H|UBR5_ENST00000518205.1_Missense_Mutation_p.D221H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2493	Asp/Glu-rich (acidic).|HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGTATCATCTAAATCCATA	0.423																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	0		p.D2493V(1)		lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(7477-7479)GAT>CAT		ubiquitin protein ligase E3 component n-recognin							121.0	117.0	118.0					8																	103277452		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103277452C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7477G>C	8.37:g.103277452C>G	ENSP00000429084:p.Asp2493His					UBR5_uc003yks.1_Missense_Mutation_p.D2492H|UBR5_uc003ykq.2_Missense_Mutation_p.D4H	p.D2493H	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		53	7510	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2493			Asp/Glu-rich (acidic).|HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.7477G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882137	0.91740	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.56103	0.88;0.88;0.48;0.88	5.46	5.46	0.80206	HECT (2);	0.059098	0.64402	D	0.000004	T	0.53626	0.1808	N	0.22421	0.69	0.45634	D	0.998569	D;D	0.64830	0.994;0.994	P;P	0.58660	0.843;0.783	T	0.56438	-0.7979	10	0.59425	D	0.04	.	12.6367	0.56687	0.0:0.9243:0.0:0.0757	.	2486;2493	E7EMW7;O95071	.;UBR5_HUMAN	H	2493;2492;221;2486	ENSP00000429084:D2493H;ENSP00000220959:D2492H;ENSP00000428693:D221H;ENSP00000427819:D2486H	ENSP00000220959:D2492H	D	-	1	0	UBR5	103346628	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.782000	0.68973	2.552000	0.86080	0.655000	0.94253	GAT		0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		78	38	0	0	0	0.870114	0	78	38		
ODF1	4956	broad.mit.edu	37	8	103564035	103564035	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:103564035G>T	ENST00000285402.3	+	1	236	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CAACTGAGATGCATCGACGAA	0.483																																						uc003ykt.2		NaN																	0				ovary(2)	2						c.(79-81)TGC>TTC		outer dense fiber of sperm tails 1							318.0	239.0	266.0					8																	103564035		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564035G>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.80G>T	8.37:g.103564035G>T	ENSP00000285402:p.Cys27Phe						p.C27F	NM_024410	NP_077721	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	188	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		27					Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.80G>T	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684236	0.68157	.	.	ENSG00000155087	ENST00000285402	T	0.33438	1.41	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000018	T	0.36026	0.0952	N	0.08118	0	0.80722	D	1	D	0.58970	0.984	D	0.72982	0.979	T	0.43032	-0.9416	10	0.66056	D	0.02	-21.1471	15.3307	0.74208	0.0:0.0:1.0:0.0	.	27	Q14990	ODFP1_HUMAN	F	27	ENSP00000285402:C27F	ENSP00000285402:C27F	C	+	2	0	ODF1	103633211	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.114000	0.50383	2.682000	0.91365	0.563000	0.77884	TGC		0.483	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1				79	285	1	0	3.12118e-38	0.870114	3.614e-38	79	285		
AZIN1	51582	broad.mit.edu	37	8	103851004	103851004	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:103851004C>T	ENST00000337198.5	-	5	1580	c.417G>A	c.(415-417)ttG>ttA	p.L139L	AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Silent_p.L139L	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	139					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CAATTTTCTTCAATTCAATTT	0.328																																						uc003ykx.2		NaN																	0					0						c.(415-417)TTG>TTA		ornithine decarboxylase antizyme inhibitor							142.0	130.0	134.0					8																	103851004		2203	4300	6503	SO:0001819	synonymous_variant	51582				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	g.chr8:103851004C>T	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.417G>A	8.37:g.103851004C>T						AZIN1_uc003yky.2_Silent_p.L139L	p.L139L	NM_015878	NP_056962	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		6	1159	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		139					A6NCD5|Q6IBQ7|Q96D20	Silent	SNP	ENST00000337198.5	37	c.417G>A	CCDS6295.1																																																																																				0.328	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1				22	79	0	0	0	0.624587	0	22	79		
CSMD3	114788	broad.mit.edu	37	8	113694715	113694715	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:113694715A>C	ENST00000297405.5	-	16	2877	c.2633T>G	c.(2632-2634)aTg>aGg	p.M878R	CSMD3_ENST00000455883.2_Missense_Mutation_p.M774R|CSMD3_ENST00000343508.3_Missense_Mutation_p.M838R|CSMD3_ENST00000352409.3_Missense_Mutation_p.M878R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	878	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTTCCATCCATAAGAATACA	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2632-2634)ATG>AGG		CUB and Sushi multiple domains 3 isoform 1							146.0	141.0	143.0					8																	113694715		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113694715A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2633T>G	8.37:g.113694715A>C	ENSP00000297405:p.Met878Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.M150R|CSMD3_uc003ynt.2_Missense_Mutation_p.M838R|CSMD3_uc011lhx.1_Missense_Mutation_p.M774R	p.M878R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2792	-			878			Sushi 4.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2633T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	9.836	1.189625	0.21954	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.68	4.5	0.54988	Complement control module (2);Sushi/SCR/CCP (3);	0.234469	0.38778	N	0.001572	T	0.10680	0.0261	N	0.04508	-0.205	0.30122	N	0.805616	B;B;B	0.16396	0.017;0.008;0.001	B;B;B	0.19946	0.026;0.027;0.026	T	0.24225	-1.0166	10	0.13470	T	0.59	.	8.0985	0.30844	0.725:0.1407:0.0:0.1343	.	774;878;838	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	838;878;218;774;878	ENSP00000345799:M838R;ENSP00000297405:M878R;ENSP00000341558:M218R;ENSP00000412263:M774R;ENSP00000343124:M878R	ENSP00000297405:M878R	M	-	2	0	CSMD3	113763891	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	4.746000	0.62133	0.946000	0.37632	0.528000	0.53228	ATG		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		53	114	0	0	0	0.870114	0	53	114		
TAF2	6873	broad.mit.edu	37	8	120807793	120807793	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:120807793C>A	ENST00000378164.2	-	9	1468	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	390					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGCGGTACTCATTAACAC	0.343																																						uc003you.2		NaN																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(1168-1170)GAG>GAT		TBP-associated factor 2							126.0	119.0	121.0					8																	120807793		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120807793C>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1170G>T	8.37:g.120807793C>A	ENSP00000367406:p.Glu390Asp						p.E390D	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		9	1440	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		390					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.1170G>T	CCDS34937.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.48|18.48	3.632515|3.632515	0.67015|0.67015	.|.	.|.	ENSG00000064313|ENSG00000064313	ENST00000378164|ENST00000523904	T|.	0.02863|.	4.13|.	5.97|5.97	-1.57|-1.57	0.08506|0.08506	.|.	0.052612|.	0.85682|.	D|.	0.000000|.	T|T	0.69405|0.69405	0.3107|0.3107	M|M	0.70842|0.70842	2.15|2.15	0.52501|0.52501	D|D	0.999952|0.999952	B|.	0.33044|.	0.395|.	B|.	0.40506|.	0.331|.	T|T	0.69224|0.69224	-0.5201|-0.5201	10|5	0.42905|.	T|.	0.14|.	-18.921|-18.921	14.4894|14.4894	0.67639|0.67639	0.0:0.5319:0.0:0.4681|0.0:0.5319:0.0:0.4681	.|.	390|.	Q6P1X5|.	TAF2_HUMAN|.	D|I	390|83	ENSP00000367406:E390D|.	ENSP00000367406:E390D|.	E|S	-|-	3|2	2|0	TAF2|TAF2	120876974|120876974	0.915000|0.915000	0.31059|0.31059	0.985000|0.985000	0.45067|0.45067	0.889000|0.889000	0.51656|0.51656	0.035000|0.035000	0.13797|0.13797	-0.348000|-0.348000	0.08286|0.08286	-1.974000|-1.974000	0.00461|0.00461	GAG|AGT		0.343	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1		NM_003184		17	74	1	0	8.60227e-14	0.500413	8.95858e-14	17	74		
BAI1	575	broad.mit.edu	37	8	143565371	143565371	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:143565371G>C	ENST00000517894.1	+	12	3058	c.2164G>C	c.(2164-2166)Gag>Cag	p.E722Q	BAI1_ENST00000323289.5_Missense_Mutation_p.E722Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	722					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTGTTGGCAGAGGAGAATCG	0.587																																						uc003ywm.2		NaN																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(2164-2166)GAG>CAG		brain-specific angiogenesis inhibitor 1							163.0	162.0	163.0					8																	143565371		1894	4110	6004	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143565371G>C	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2164G>C	8.37:g.143565371G>C	ENSP00000430945:p.Glu722Gln						p.E722Q	NM_001702	NP_001693	O14514	BAI1_HUMAN			11	2347	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		722			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517894.1	37	c.2164G>C		.	.	.	.	.	.	.	.	.	.	G	17.98	3.519919	0.64634	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.09350	2.99;2.99	4.66	4.66	0.58398	.	0.072453	0.53938	U	0.000056	T	0.30008	0.0751	M	0.66939	2.045	0.53688	D	0.999974	D	0.69078	0.997	D	0.68192	0.956	T	0.01904	-1.1250	10	0.35671	T	0.21	.	16.5348	0.84370	0.0:0.0:1.0:0.0	.	722	E9PBK0	.	Q	722	ENSP00000430945:E722Q;ENSP00000313046:E722Q	ENSP00000313046:E722Q	E	+	1	0	BAI1	143562373	1.000000	0.71417	0.684000	0.30055	0.551000	0.35334	9.244000	0.95423	2.122000	0.65172	0.313000	0.20887	GAG		0.587	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3		NM_001702		93	461	0	0	0	0.870114	0	93	461		
ZNF250	58500	broad.mit.edu	37	8	146108082	146108082	+	Silent	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:146108082C>G	ENST00000292579.7	-	6	617	c.501G>C	c.(499-501)ctG>ctC	p.L167L	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.L162L	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	167					regulation of transcription, DNA-templated (GO:0006355)|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(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AGTTTGGACTCAGACAGAAGC	0.478																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3		NaN																	0					0						c.(499-501)CTG>CTC		zinc finger protein 250 isoform a							197.0	187.0	191.0					8																	146108082		2203	4300	6503	SO:0001819	synonymous_variant	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108082C>G	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.501G>C	8.37:g.146108082C>G						COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.L162L|ZNF250_uc010mgg.2_Silent_p.L162L	p.L167L	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	618	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		167					D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	37	c.501G>C	CCDS34972.1																																																																																				0.478	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1		NM_021061		110	371	0	0	0	0.870114	0	110	371		
TPM2	7169	broad.mit.edu	37	9	35685657	35685657	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:35685657C>T	ENST00000360958.2	-	3	465	c.361G>A	c.(361-363)Gat>Aat	p.D121N	TPM2_ENST00000329305.2_Missense_Mutation_p.D121N|TPM2_ENST00000378292.3_Missense_Mutation_p.D121N|TPM2_ENST00000378300.5_Missense_Mutation_p.D121N	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	121					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGCTCTCATCAGCCGCCTTC	0.672																																						uc003zxq.2		NaN																	0				ovary(1)	1						c.(361-363)GAT>AAT		tropomyosin 2 (beta) isoform 2							41.0	44.0	43.0					9																	35685657		2203	4300	6503	SO:0001583	missense	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35685657C>T		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.361G>A	9.37:g.35685657C>T	ENSP00000354219:p.Asp121Asn					TPM2_uc003zxr.2_Missense_Mutation_p.D121N|TPM2_uc003zxs.2_Missense_Mutation_p.D121N|TPM2_uc010mkz.2_Missense_Mutation_p.D121N|TPM2_uc011lpa.1_Missense_Mutation_p.D121N	p.D121N	NM_213674	NP_998839	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	600	-	all_epithelial(49;0.121)		121			By similarity.		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	c.361G>A	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	33	5.222687	0.95139	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81	5.11	5.11	0.69529	.	.	.	.	.	D	0.99390	0.9785	H	0.98068	4.14	0.80722	D	1	D;P;D;D;P	0.60575	0.988;0.819;0.963;0.971;0.902	D;D;D;D;P	0.68192	0.956;0.921;0.94;0.944;0.904	D	0.98393	1.0564	9	0.87932	D	0	.	18.3262	0.90255	0.0:1.0:0.0:0.0	.	121;121;121;121;121	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	N	121	ENSP00000367550:D121N;ENSP00000367542:D121N;ENSP00000367541:D121N;ENSP00000354219:D121N	ENSP00000367541:D121N	D	-	1	0	TPM2	35675657	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.924000	0.70054	2.654000	0.90174	0.561000	0.74099	GAT		0.672	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1		NM_003289		84	112	0	0	0	0.870114	0	84	112		
SEC61B	10952	broad.mit.edu	37	9	101984145	101984145	+	5'Flank	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:101984145G>A	ENST00000223641.4	+	0	0				SEC61B_ENST00000498603.1_5'Flank|ALG2_ENST00000319033.6_5'Flank|ALG2_ENST00000476832.1_Missense_Mutation_p.S11L	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CTTGGGAACCGAGTCCCGTTC	0.726																																						uc004azf.2		NaN																	0				ovary(2)	2						c.(31-33)TCG>TTG		alpha-1,3-mannosyltransferase ALG2							10.0	14.0	12.0					9																	101984145		2173	4272	6445	SO:0001631	upstream_gene_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101984145G>A	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354		9.37:g.101984145G>A	Exception_encountered					ALG2_uc004azg.2_5'UTR|SEC61B_uc004azh.2_5'Flank	p.S11L	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			1	102	-		Acute lymphoblastic leukemia(62;0.0559)	11					P38390|P38391|Q6IBC1	Missense_Mutation	SNP	ENST00000223641.4	37	c.32C>T	CCDS6741.1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.153868	0.21371	.	.	ENSG00000119523	ENST00000476832	T	0.77098	-1.07	4.66	-1.42	0.08913	.	16.633700	0.00166	N	0.000004	T	0.65417	0.2689	L	0.27053	0.805	0.19945	N	0.999949	B	0.02656	0.0	B	0.01281	0.0	T	0.46484	-0.9188	10	0.25106	T	0.35	4.1094	7.5247	0.27647	0.2577:0.2243:0.518:0.0	.	11	Q9H553	ALG2_HUMAN	L	11	ENSP00000417764:S11L	ENSP00000417764:S11L	S	-	2	0	ALG2	101023966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.252000	0.08806	-0.351000	0.08249	-0.797000	0.03246	TCG		0.726	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1		NM_006808		18	27	0	0	0	0.557998	0	18	27		
SNX30	401548	broad.mit.edu	37	9	115600917	115600917	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:115600917C>T	ENST00000374232.3	+	6	1118	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	318					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGACAGATGACATGACAGAAG	0.483																																						uc004bgj.3		NaN																	0					0						c.(952-954)GAC>GAT		sorting nexin family member 30							115.0	119.0	118.0					9																	115600917		2002	4181	6183	SO:0001819	synonymous_variant	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115600917C>T	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.954C>T	9.37:g.115600917C>T						SNX30_uc004bgi.3_5'UTR	p.D318D	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			6	1102	+			318						Silent	SNP	ENST00000374232.3	37	c.954C>T	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	C	9.263	1.043667	0.19748	.	.	ENSG00000148158	ENST00000416585	.	.	.	5.4	4.51	0.55191	.	.	.	.	.	T	0.62233	0.2411	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60260	-0.7298	4	.	.	.	.	10.7429	0.46164	0.0:0.7993:0.0:0.2007	.	.	.	.	I	18	.	.	T	+	2	0	SNX30	114640738	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.255000	0.43222	1.282000	0.44496	0.563000	0.77884	ACA		0.483	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1				38	98	0	0	0	0.827153	0	38	98		
AR	367	broad.mit.edu	37	X	66765006	66765006	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chrX:66765006G>A	ENST00000374690.3	+	1	542	c.18G>A	c.(16-18)ggG>ggA	p.G6G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.G6G|AR_ENST00000504326.1_Silent_p.G6G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	6	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCAGTTAGGGCTGGGAAGGG	0.577									Androgen Insensitivity Syndrome																													uc004dwu.1		NaN																	0				ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(16-18)GGG>GGA		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						75.0	48.0	57.0					X																	66765006		2203	4300	6503	SO:0001819	synonymous_variant	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765006G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.18G>A	X.37:g.66765006G>A						AR_uc011mpd.1_Silent_p.G6G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G6G	p.G6G	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	1133	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	6			Modulating.		A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.18G>A	CCDS14387.1																																																																																				0.577	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1		NM_000044		37	8	0	0	0	0.827153	0	37	8		
KIAA1210	57481	broad.mit.edu	37	X	118220587	118220587	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chrX:118220587A>G	ENST00000402510.2	-	11	4605	c.4606T>C	c.(4606-4608)Tct>Cct	p.S1536P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1536										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCAACGTAAGATATTTTGGTG	0.512																																						uc004era.3		NaN																	0				ovary(4)|skin(1)	5						c.(4606-4608)TCT>CCT		hypothetical protein LOC57481							88.0	80.0	83.0					X																	118220587		1916	4110	6026	SO:0001583	missense	57481							g.chrX:118220587A>G	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4606T>C	X.37:g.118220587A>G	ENSP00000384670:p.Ser1536Pro						p.S1536P	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4606	-			1536					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4606T>C	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.56|12.56	1.975532|1.975532	0.34848|0.34848	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.12147	.|2.71	5.06|5.06	1.18|1.18	0.20946|0.20946	.|.	.|.	.|.	.|.	.|.	T|T	0.12135|0.12135	0.0295|0.0295	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B	.|0.20988	.|0.05	.|B	.|0.21360	.|0.034	T|T	0.35276|0.35276	-0.9795|-0.9795	6|9	0.18276|0.27785	T|T	0.48|0.31	.|.	3.7906|3.7906	0.08718|0.08718	0.5917:0.1849:0.2233:0.0|0.5917:0.1849:0.2233:0.0	.|.	.|1536	.|Q9ULL0	.|K1210_HUMAN	T|P	942|1536	.|ENSP00000384670:S1536P	ENSP00000393550:I942T|ENSP00000384670:S1536P	I|S	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118104615|118104615	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	-0.433000|-0.433000	0.06948|0.06948	-0.001000|-0.001000	0.14495|0.14495	0.412000|0.412000	0.27726|0.27726	ATC|TCT		0.512	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2		NM_020721		53	15	0	0	0	0.870114	0	53	15		
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		3	Insertion - Frameshift(3)	p.G1848fs*6(3)|p.G1847fs*36(1)	ovary(2)|endometrium(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(5539-5544)GGTGGGfs		AT rich interactive domain 1A isoform a																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs					ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	p.G1847fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5914_5915	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847_1848					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		70	100	NaN	NaN	NaN	NaN	NaN	70	100	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918024	65918025	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:65918024_65918025insT	ENST00000261892.6	+	2	1893_1894	c.1606_1607insT	c.(1606-1608)attfs	p.I536fs	SLC24A1_ENST00000544319.2_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000537259.1_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000399033.4_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000339868.6_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000546330.1_Frame_Shift_Ins_p.I536fs	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	536					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGTTCAACATTCTCTTTGTC	0.525																																						uc010ujf.1		NaN																	0					0						c.(1606-1608)ATTfs		solute carrier family 24																																				SO:0001589	frameshift_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918024_65918025insT	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1608dupT	15.37:g.65918026_65918026dupT	ENSP00000261892:p.Ile536fs					SLC24A1_uc010ujd.1_Frame_Shift_Ins_p.I536fs|SLC24A1_uc010uje.1_Frame_Shift_Ins_p.I536fs|SLC24A1_uc010ujg.1_Frame_Shift_Ins_p.I536fs|SLC24A1_uc010ujh.1_Frame_Shift_Ins_p.I536fs	p.I536fs	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	1893_1894	+			536			Helical; (Potential).		O43485|O75184|Q17RM9	Frame_Shift_Ins	INS	ENST00000261892.6	37	c.1606_1607insT	CCDS45284.1																																																																																				0.525	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1		NM_004727		69	150	NaN	NaN	NaN	NaN	NaN	69	150	---	---
NDE1	54820	broad.mit.edu	37	16	15790770	15790770	+	Intron	DEL	G	G	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:15790770delG	ENST00000396353.2	+	9	1773				NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1						centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GCCTGCCCCAGGCAAGAGACA	0.552																																						uc002ddt.1		NaN																	0				ovary(1)	1						c.(1000-1002)GGCfs		nuclear distribution gene E homolog 1																																				SO:0001627	intron_variant	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15790770delG	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.947+53G>-	16.37:g.15790770delG						NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	p.G334fs	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN			7	1043	+			Error:Variant_position_missing_in_Q9NXR1_after_alignment					Q49AQ2	Frame_Shift_Del	DEL	ENST00000396353.2	37	c.1000delG																																																																																					0.552	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017668		18	27	NaN	NaN	NaN	NaN	NaN	18	27	---	---
CNOT1	23019	broad.mit.edu	37	16	58619315	58619316	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:58619315_58619316delCT	ENST00000317147.5	-	8	1064_1065	c.732_733delAG	c.(730-735)ggagggfs	p.GG244fs	CNOT1_ENST00000569240.1_Frame_Shift_Del_p.GG244fs|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.GG244fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	244					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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 stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTAGCTACCCCTCCGGAATCAG	0.465																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(730-735)GGAGGGfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58619315_58619316delCT	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.732_733delAG	16.37:g.58619315_58619316delCT	ENSP00000320949:p.Gly244fs					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.G244fs|CNOT1_uc002enx.2_Frame_Shift_Del_p.G244fs|CNOT1_uc002enz.1_Intron	p.G244fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	8	1025_1026	-			244_245					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	c.732_733delAG	CCDS10799.1																																																																																				0.465	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		62	169	NaN	NaN	NaN	NaN	NaN	62	169	---	---
VEZF1	7716	broad.mit.edu	37	17	56056586	56056587	+	In_Frame_Ins	INS	-	-	TGT	rs199628152	byFrequency	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:56056586_56056587insTGT	ENST00000581208.1	-	5	1104_1105	c.1064_1065insACA	c.(1063-1065)cat>caACAt	p.354_355insQ	VEZF1_ENST00000584396.1_In_Frame_Ins_p.345_346insQ	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.			Missing (in Ref. 1; BAA05663). {ECO:0000305}.	angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475														309	0.0617013	0.1483	0.0245	5008	,	,		20971	0.005		0.0169	False		,,,				2504	0.0757					uc002ivf.1		NaN																	0				ovary(1)|breast(1)	2						c.(1063-1065)CAT>CAACAT		zinc finger protein 161																																				SO:0001652	inframe_insertion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056586_56056587insTGT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1062_1064dupACA	17.37:g.56056593_56056595dupTGT	ENSP00000462337:p.Gln354_Gln354dup					VEZF1_uc010dcn.1_In_Frame_Ins_p.204_205insQ	p.354_355insQ	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			5	1207_1208	-			354_355						In_Frame_Ins	INS	ENST00000581208.1	37	c.1064_1065insACA	CCDS32687.1																																																																																				0.475	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1				7	480	NaN	NaN	NaN	NaN	NaN	7	480	---	---
DOCK6	57572	broad.mit.edu	37	19	11348960	11348960	+	Frame_Shift_Del	DEL	G	G	-	rs12609039	byFrequency	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:11348960delG	ENST00000294618.7	-	15	1675	c.1664delC	c.(1663-1665)ccgfs	p.P555fs	DOCK6_ENST00000319867.7_5'Flank|C19orf80_ENST00000591200.1_Intron|C19orf80_ENST00000252453.8_5'Flank	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	555	DHR-1.		P -> L (in dbSNP:rs12609039).		blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GAGGCTGTGCGGGTACACGTA	0.647																																						uc002mqs.3		NaN																	0				ovary(2)|skin(1)	3						c.(1663-1665)CCGfs		dedicator of cytokinesis 6							16.0	18.0	17.0					19																	11348960		2037	4158	6195	SO:0001589	frameshift_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11348960delG		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1664delC	19.37:g.11348960delG	ENSP00000294618:p.Pro555fs					DOCK6_uc010xlq.1_5'Flank|LOC55908_uc010dxw.2_Intron|LOC55908_uc010dxx.2_Intron	p.P555fs	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			15	1705	-			555			DHR-1.		A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	c.1664delC	CCDS45975.1																																																																																				0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1		NM_020812		22	48	NaN	NaN	NaN	NaN	NaN	22	48	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2		NaN																	0				central_nervous_system(1)	1						c.(172-174)CTGdel		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_uc010eea.2_In_Frame_Del_p.L62del	p.L62del	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62			Helical; Name=2; (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3		NM_005306		7	135	NaN	NaN	NaN	NaN	NaN	7	135	---	---
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs201732168|rs113202486|rs574714675|rs71010672	byFrequency	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(190-192)cag>CAGcag	p.64_64Q>QQ	TBP_ENST00000540980.1_In_Frame_Ins_p.44_44Q>QQ|TBP_ENST00000230354.6_In_Frame_Ins_p.64_64Q>QQ	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.55																																						uc003qxt.2		NaN																	2	Insertion - In frame(1)|Substitution - coding silent(1)		prostate(1)|breast(1)	ovary(1)	1						c.(187-192)insCAG		TATA box binding protein																																				SO:0001652	inframe_insertion	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871013_170871014insCAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.211_213dupCAG	6.37:g.170871020_170871022dupCAG	ENSP00000375942:p.Gln95dup					TBP_uc003qxu.2_In_Frame_Ins_p.95_96insQ|TBP_uc011ehf.1_In_Frame_Ins_p.75_76insQ|TBP_uc011ehg.1_In_Frame_Ins_p.95_96insQ	p.95_96insQ	NM_003194	NP_003185	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	421_422	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	95_96					B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Ins	INS	ENST00000392092.2	37	c.189_190insCAG	CCDS5315.1																																																																																				0.550	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2		NM_003194		34	84	NaN	NaN	NaN	NaN	NaN	34	84	---	---
KMT2C	58508	broad.mit.edu	37	7	151873966	151873967	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			-	AG	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:151873966_151873967insAG	ENST00000262189.6	-	38	8789_8790	c.8571_8572insCT	c.(8569-8574)tctgctfs	p.A2858fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.A2858fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2858					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTGAGTGAGCAGAAGCCTGTG	0.411																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(8569-8574)TCTGCTfs		myeloid/lymphoid or mixed-lineage leukemia 3																																				SO:0001589	frameshift_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151873966_151873967insAG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8570_8571dupCT	7.37:g.151873967_151873968dupAG	ENSP00000262189:p.Ala2858fs					MLL3_uc003wkz.2_Frame_Shift_Ins_p.S1918fs|MLL3_uc003wky.2_Frame_Shift_Ins_p.S366fs	p.S2857fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	38	8790_8791	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2857_2858					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.8571_8572insCT	CCDS5931.1																																																																																				0.411	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				48	119	NaN	NaN	NaN	NaN	NaN	48	119	---	---
OSR2	116039	broad.mit.edu	37	8	99961401	99961402	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:99961401_99961402insG	ENST00000297565.4	+	2	717_718	c.221_222insG	c.(220-225)gcggcgfs	p.A75fs	OSR2_ENST00000522510.1_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000523368.1_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000435298.2_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000457907.2_Frame_Shift_Ins_p.A196fs	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	75					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GAGATGGCGGCGGCGCAGGGCC	0.649																																						uc003yir.2		NaN																	0				central_nervous_system(1)	1						c.(220-222)GCGfs		odd-skipped related 2 isoform a																																				SO:0001589	frameshift_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961401_99961402insG	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.223dupG	8.37:g.99961403_99961403dupG	ENSP00000297565:p.Ala75fs					OSR2_uc010mbn.2_Frame_Shift_Ins_p.A74fs|OSR2_uc003yiq.2_Frame_Shift_Ins_p.A74fs|OSR2_uc011lgx.1_Frame_Shift_Ins_p.A195fs	p.A74fs	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	756_757	+	Breast(36;4.14e-07)		74					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Frame_Shift_Ins	INS	ENST00000297565.4	37	c.221_222insG	CCDS47901.1																																																																																				0.649	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1		NM_053001		8	510	NaN	NaN	NaN	NaN	NaN	8	510	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						uc003zkw.2		NaN																	3	Insertion - In frame(2)|Deletion - In frame(1)		large_intestine(1)|prostate(1)|central_nervous_system(1)		0						c.(145-150)insGGCGGCGGC		hypothetical protein LOC286343																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup						p.55_56insGGG	NM_203403	NP_981948	Q8IV03	CI150_HUMAN		GBM - Glioblastoma multiforme(1;1.64e-13)	1	850_851	+			58_59			Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1		NM_203403		10	11	NaN	NaN	NaN	NaN	NaN	10	11	---	---
