#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TMEM201	199953	broad.mit.edu	37	1	9661177	9661177	+	Silent	SNP	C	C	T	rs201467842		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:9661177C>T	ENST00000340381.6	+	5	630	c.621C>T	c.(619-621)gcC>gcT	p.A207A	TMEM201_ENST00000377376.4_Silent_p.A207A|TMEM201_ENST00000340305.5_Silent_p.A207A	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	207					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TCTCCTCCGCCGTGAAGTCCC	0.652																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(619-621)gcC>gcT		transmembrane protein 201							65.0	66.0	65.0					1																	9661177		2203	4300	6503	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9661177C>T		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.621C>T	1.37:g.9661177C>T						TMEM201_ENST00000377376.4_Silent_p.A207A|TMEM201_ENST00000340381.6_Silent_p.A207A	p.A207A	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	630	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	207					B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.621C>T	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.026812	0.02045	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.98	-4.49	0.03504	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.26780	-1.0093	4	.	.	.	-7.1082	0.2821	0.00246	0.3436:0.2245:0.2094:0.2225	.	.	.	.	C	117	.	.	R	+	1	0	TMEM201	9583764	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.594000	0.00896	-0.641000	0.05487	-1.461000	0.01025	CGT		0.652	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		37	121	0	0	0	1	0	37	121				
TRRAP	8295	broad.mit.edu	37	7	98581955	98581955	+	Missense_Mutation	SNP	G	G	A	rs200203849		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:98581955G>A	ENST00000359863.4	+	60	9483	c.9274G>A	c.(9274-9276)Gtc>Atc	p.V3092I	TRRAP_ENST00000446306.3_Missense_Mutation_p.V3063I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3063I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3092	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCTGGCAGGCGTCATGGGCAA	0.498																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9274-9276)Gtc>Atc		transformation/transcription domain-associated protein							95.0	91.0	92.0					7																	98581955		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98581955G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9274G>A	7.37:g.98581955G>A	ENSP00000352925:p.Val3092Ile					TRRAP_ENST00000446306.3_Missense_Mutation_p.V3063I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3063I	p.V3092I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		60	9483	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3092			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9274G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380247	0.82682	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.70045	-0.45;-0.45	5.42	5.42	0.78866	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.066334	0.64402	D	0.000014	T	0.69708	0.3141	M	0.65975	2.015	0.80722	D	1	D;P;P	0.53885	0.963;0.938;0.938	B;B;B	0.44085	0.365;0.44;0.44	T	0.73216	-0.4053	10	0.48119	T	0.1	.	19.2126	0.93763	0.0:0.0:1.0:0.0	.	3063;2802;3092	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	3092;3063;3062	ENSP00000352925:V3092I;ENSP00000347733:V3063I	ENSP00000347733:V3063I	V	+	1	0	TRRAP	98419891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.750000	0.98875	2.559000	0.86315	0.655000	0.94253	GTC		0.498	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		54	126	0	0	0	1	0	54	126				
NDNF	79625	broad.mit.edu	37	4	121957767	121957767	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:121957767G>A	ENST00000379692.4	-	4	1885	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	453	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAAAGGCTTTGATTCTTGTGT	0.448																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1357-1359)atC>atT		neuron-derived neurotrophic factor							172.0	164.0	167.0					4																	121957767		2203	4300	6503	SO:0001819	synonymous_variant	79625							g.chr4:121957767G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1359C>T	4.37:g.121957767G>A							p.I453I	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1885	-			453			Fibronectin type-III 2.		A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.1359C>T	CCDS3717.2																																																																																				0.448	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		64	61	0	0	0	1	0	64	61				
HTR3E	285242	broad.mit.edu	37	3	183818194	183818194	+	Intron	SNP	C	C	T	rs142990158	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:183818194C>T	ENST00000415389.2	+	2	533				HTR3E_ENST00000440596.2_Missense_Mutation_p.R12C|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000335304.2_Missense_Mutation_p.R12C|HTR3E_ENST00000436361.2_Missense_Mutation_p.R12C|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GGCGACCCCACGCCCTGCCTT	0.478																																					Melanoma(7;227 727 6634 44770)	ENST00000335304.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(34-36)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic		G	CYS/ARG	1,4405		0,1,2202	114.0	118.0	117.0		34	2.5	0.0	3	dbSNP_134	117	1,8599		0,1,4299	no	missense	HTR3E	NM_182589.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	12/472	183818194	2,13004	2203	4300	6503	SO:0001627	intron_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183818194C>T	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.68-79C>T	3.37:g.183818194C>T						HTR3E_ENST00000440596.2_Missense_Mutation_p.R12C|HTR3E_ENST00000415389.2_Intron|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.R12C|HTR3E_ENST00000425359.2_Intron	p.R12C	NM_182589.2|NM_198314.2	NP_872395.2|NP_938056.1	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		1	228	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		0					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.34C>T	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	N	16.15	3.042466	0.55003	2.27E-4	1.16E-4	ENSG00000186038	ENST00000335304;ENST00000436361;ENST00000440596	T;T;T	0.80566	-1.39;-1.27;-1.3	3.36	2.45	0.29901	.	5.490200	0.01921	U	0.040488	T	0.70842	0.3270	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.54977	-0.8212	10	0.46703	T	0.11	.	6.037	0.19712	0.0:0.2119:0.5693:0.2188	.	12;12;12	E9PGF1;A5X5Y0-4;A5X5Y0-3	.;.;.	C	12	ENSP00000335511:R12C;ENSP00000395833:R12C;ENSP00000406050:R12C	ENSP00000335511:R12C	R	+	1	0	HTR3E	185300888	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	0.008000	0.13197	0.229000	0.21039	-0.120000	0.15030	CGC		0.478	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		50	58	0	0	0	1	0	50	58				
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:7577534C>A	ENST00000269305.4	-	7	936	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000420246.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R249S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAGGATGGGCCTCCGGTTCA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		378	Substitution - Missense(348)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Deletion - Frameshift(1)|Complex - compound substitution(1)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)	liver(240)|lung(44)|upper_aerodigestive_tract(12)|breast(12)|central_nervous_system(10)|stomach(7)|ovary(6)|prostate(6)|cervix(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(5)|biliary_tract(5)|urinary_tract(5)|bone(4)|endometrium(3)|oesophagus(3)|skin(2)|peritoneum(1)|kidney(1)|salivary_gland(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(745-747)agG>agT	Other conserved DNA damage response genes	tumor protein p53							155.0	113.0	127.0					17																	7577534		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577534C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.747G>T	17.37:g.7577534C>A	ENSP00000269305:p.Arg249Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S	p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	879	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.747G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344264	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	4.62	-0.0929	0.13654	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.92367	3.3	0.50039	D	0.999848	D;D;D;D;D	0.89917	0.996;0.996;0.997;0.99;1.0	D;D;D;D;D	0.79108	0.968;0.966;0.981;0.955;0.992	D	0.98720	1.0708	10	0.72032	D	0.01	-3.0658	3.2479	0.06803	0.1392:0.5551:0.1362:0.1695	rs28934571	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	249;249;249;249;249;249;238;117	ENSP00000410739:R249S;ENSP00000352610:R249S;ENSP00000269305:R249S;ENSP00000398846:R249S;ENSP00000391127:R249S;ENSP00000391478:R249S;ENSP00000425104:R117S	ENSP00000269305:R249S	R	-	3	2	TP53	7518259	0.011000	0.17503	0.998000	0.56505	0.783000	0.44284	-1.379000	0.02554	0.253000	0.21552	0.462000	0.41574	AGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	1	1	0	7.33628e-21	1	8.0564e-21	21	1				
ATP5H	10476	broad.mit.edu	37	17	73036197	73036197	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:73036197T>C	ENST00000301587.4	-	4	328	c.281A>G	c.(280-282)gAa>gGa	p.E94G	ATP5H_ENST00000344546.4_Intron|KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron|RN7SL573P_ENST00000485340.2_RNA	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	94					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					ATCTTCTTTTTCTTCGGCATC	0.408																																						ENST00000301587.4																			0				lung(1)|skin(1)	2						c.(280-282)gAa>gGa		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d							208.0	217.0	214.0					17																	73036197		2203	4300	6503	SO:0001583	missense	10476				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr17:73036197T>C	AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	845	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"""			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.281A>G	17.37:g.73036197T>C	ENSP00000301587:p.Glu94Gly					KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Intron|KCTD2_ENST00000584767.1_Intron	p.E94G	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN			4	328	-	all_lung(278;0.226)		94					B2R5L6|Q9H3J4	Missense_Mutation	SNP	ENST00000301587.4	37	c.281A>G	CCDS11712.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471889	0.84533	.	.	ENSG00000167863	ENST00000538432;ENST00000301587	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.91300	3.195	0.80722	D	1	D	0.62365	0.991	D	0.66602	0.945	D	0.86311	0.1686	9	0.42905	T	0.14	.	15.298	0.73925	0.0:0.0:0.0:1.0	.	94	O75947	ATP5H_HUMAN	G	94	.	ENSP00000301587:E94G	E	-	2	0	ATP5H	70547792	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	6.670000	0.74467	2.097000	0.63578	0.460000	0.39030	GAA		0.408	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445318.1	NM_006356		124	80	0	0	0	1	0	124	80				
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)Cga>Tga		phosphatase and tensin homolog							155.0	133.0	141.0					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.R233*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2054	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		40	1	0	0	0	1	0	40	1				
PRKD2	25865	broad.mit.edu	37	19	47207822	47207822	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:47207822G>A	ENST00000291281.4	-	4	821	c.596C>T	c.(595-597)aCg>aTg	p.T199M	PRKD2_ENST00000595515.1_Missense_Mutation_p.T199M|PRKD2_ENST00000600194.1_Missense_Mutation_p.T42M|PRKD2_ENST00000433867.1_Missense_Mutation_p.T199M|PRKD2_ENST00000601806.1_Missense_Mutation_p.T42M			Q9BZL6	KPCD2_HUMAN	protein kinase D2	199					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGCCAGAGACGTGGATGACAG	0.667											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(595-597)aCg>aTg		protein kinase D2							37.0	41.0	40.0					19																	47207822		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47207822G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.596C>T	19.37:g.47207822G>A	ENSP00000291281:p.Thr199Met		OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PRKD2_ENST00000595515.1_Missense_Mutation_p.T199M|PRKD2_ENST00000600194.1_Missense_Mutation_p.T42M|PRKD2_ENST00000601806.1_Missense_Mutation_p.T42M|PRKD2_ENST00000291281.4_Missense_Mutation_p.T199M	p.T199M	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	5	1073	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	199					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.596C>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550245	0.65311	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.66815	-0.23;-0.23	5.26	5.26	0.73747	.	0.153060	0.40818	N	0.001004	T	0.52565	0.1742	L	0.36672	1.1	0.43824	D	0.996394	B;B	0.33777	0.302;0.425	B;B	0.26416	0.043;0.069	T	0.54741	-0.8248	10	0.41790	T	0.15	-27.7789	11.1893	0.48675	0.0862:0.0:0.9138:0.0	.	199;199	E7ER94;Q9BZL6	.;KPCD2_HUMAN	M	199	ENSP00000291281:T199M;ENSP00000393978:T199M	ENSP00000291281:T199M	T	-	2	0	PRKD2	51899662	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.353000	0.52247	2.447000	0.82792	0.313000	0.20887	ACG		0.667	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		14	79	0	0	0	1	0	14	79				
FGB	2244	broad.mit.edu	37	4	155487137	155487137	+	Missense_Mutation	SNP	G	G	A	rs121909620		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:155487137G>A	ENST00000302068.4	+	2	355	c.292G>A	c.(292-294)Gct>Act	p.A98T	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	98			A -> T (in Naples and Milano-2; associated with defective thrombin binding and thrombophilia). {ECO:0000269|PubMed:1634610}.|Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|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)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGTCTTCACGCTGACCCAGA	0.537																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	GRCh37	CM920275	FGB	M	rs121909620	c.(292-294)Gct>Act		fibrinogen beta chain	Sucralfate(DB00364)						37.0	34.0	35.0					4																	155487137		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487137G>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.292G>A	4.37:g.155487137G>A	ENSP00000306099:p.Ala98Thr					FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	p.A98T	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			2	355	+	all_hematologic(180;0.215)	Renal(120;0.0458)	98		A -> T (in Naples and Milano-2; associated with defective thrombin binding and thrombophilia).|Missing (in New York-1).			A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.292G>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807499	0.70797	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.82081	-1.57	5.21	5.21	0.72293	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.283519	0.39020	N	0.001497	T	0.82084	0.4960	M	0.74881	2.28	0.80722	D	1	P	0.45715	0.865	B	0.38655	0.278	D	0.83406	0.0025	10	0.39692	T	0.17	.	16.1953	0.82023	0.0:0.1328:0.8672:0.0	.	98	P02675	FIBB_HUMAN	T	98;81	ENSP00000306099:A98T	ENSP00000306099:A98T	A	+	1	0	FGB	155706587	0.532000	0.26346	0.680000	0.29994	0.956000	0.61745	3.432000	0.52824	2.597000	0.87782	0.591000	0.81541	GCT		0.537	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		26	25	0	0	0	1	0	26	25				
BRINP3	339479	broad.mit.edu	37	1	190067975	190067975	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:190067975G>A	ENST00000367462.3	-	8	1705	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	BRINP3_ENST00000534846.1_Silent_p.L390L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	492					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGATCTTGCAGGTCAGTTTCA	0.512																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1474-1476)Ctg>Ttg									162.0	159.0	160.0					1																	190067975		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:190067975G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1474C>T	1.37:g.190067975G>A						FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.L390L	p.L492L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1705	-	Prostate(682;0.198)		492					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1474C>T	CCDS1373.1																																																																																				0.512	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		29	136	0	0	0	1	0	29	136				
MYH7	4625	broad.mit.edu	37	14	23891485	23891485	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:23891485C>T	ENST00000355349.3	-	25	3311	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1050					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGCTTCGCTCGCTCCAGGTC	0.577																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3148-3150)cGa>cAa		myosin, heavy chain 7, cardiac muscle, beta							132.0	106.0	115.0					14																	23891485		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23891485C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3149G>A	14.37:g.23891485C>T	ENSP00000347507:p.Arg1050Gln						p.R1050Q	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	25	3311	-	all_cancers(95;2.54e-05)		1050					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3149G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516707	0.96402	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.94828	-3.53	4.64	4.64	0.57946	.	.	.	.	.	D	0.97736	0.9257	M	0.89968	3.075	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	D	0.98581	1.0650	9	0.87932	D	0	.	18.0449	0.89329	0.0:1.0:0.0:0.0	.	1050	P12883	MYH7_HUMAN	Q	1050	ENSP00000347507:R1050Q	ENSP00000347507:R1050Q	R	-	2	0	MYH7	22961325	0.807000	0.29009	0.997000	0.53966	0.962000	0.63368	7.466000	0.80914	2.585000	0.87301	0.655000	0.94253	CGA		0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		25	23	0	0	0	1	0	25	23				
NCF2	4688	broad.mit.edu	37	1	183532665	183532665	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:183532665G>A	ENST00000367535.3	-	12	1333	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	NCF2_ENST00000413720.1_Missense_Mutation_p.T316M|NCF2_ENST00000418089.1_Missense_Mutation_p.T280M|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367536.1_Missense_Mutation_p.T361M	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	361	OPR.				aging (GO:0007568)|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 defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	CATGACTACCGTGTACTTGTA	0.547																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(946-948)aCg>aTg		neutrophil cytosolic factor 2							125.0	110.0	115.0					1																	183532665		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532665G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1082C>T	1.37:g.183532665G>A	ENSP00000356505:p.Thr361Met					NCF2_ENST00000367535.3_Missense_Mutation_p.T361M|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Missense_Mutation_p.T280M|NCF2_ENST00000367536.1_Missense_Mutation_p.T361M	p.T316M	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			11	1221	-			361					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.947C>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273257	0.80580	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.74	4.82	0.62117	Phox/Bem1p (2);	0.046434	0.85682	D	0.000000	T	0.48995	0.1531	M	0.83483	2.645	0.52099	D	0.999942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	T	0.55535	-0.8126	10	0.87932	D	0	-34.1734	12.8508	0.57856	0.0752:0.0:0.9248:0.0	.	280;316;361	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	M	361;433;316;280;361;12;100	ENSP00000356506:T361M;ENSP00000399294:T316M;ENSP00000407217:T280M;ENSP00000356505:T361M;ENSP00000397228:T12M;ENSP00000406198:T100M	ENSP00000356505:T361M	T	-	2	0	NCF2	181799288	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	6.438000	0.73426	1.436000	0.47453	0.650000	0.86243	ACG		0.547	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		69	85	0	0	0	1	0	69	85				
XYLT1	64131	broad.mit.edu	37	16	17292083	17292083	+	Silent	SNP	G	G	A	rs149300797		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:17292083G>A	ENST00000261381.6	-	5	1359	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	425					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGGGTAGTCGGCCGCACTCA	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15672	0.0		0.0	False		,,,				2504	0.0					ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1273-1275)gcC>gcT		xylosyltransferase I		G		0,4394		0,0,2197	69.0	61.0	64.0		1275	-5.7	0.8	16	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XYLT1	NM_022166.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		425/960	17292083	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17292083G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1275C>T	16.37:g.17292083G>A							p.A425A	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			5	1359	-			425					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.1275C>T	CCDS10569.1																																																																																				0.622	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		11	66	0	0	0	1	0	11	66				
BCAT2	587	broad.mit.edu	37	19	49303509	49303509	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:49303509G>A	ENST00000316273.6	-	4	358	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	BCAT2_ENST00000545387.2_Missense_Mutation_p.R24C|BCAT2_ENST00000599246.1_Missense_Mutation_p.R24C|BCAT2_ENST00000597011.1_Missense_Mutation_p.R76C|BCAT2_ENST00000598162.1_Missense_Mutation_p.R116C|BCAT2_ENST00000402551.1_Missense_Mutation_p.R76C	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	116					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	CGGAAGAGGCGCACCTGCTGG	0.657																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(226-228)Cgc>Tgc		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						52.0	52.0	52.0					19																	49303509		2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49303509G>A	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.346C>T	19.37:g.49303509G>A	ENSP00000322991:p.Arg116Cys					BCAT2_ENST00000545387.2_Missense_Mutation_p.R24C|BCAT2_ENST00000598162.1_Missense_Mutation_p.R116C|BCAT2_ENST00000597011.1_Missense_Mutation_p.R76C|BCAT2_ENST00000316273.6_Missense_Mutation_p.R116C|BCAT2_ENST00000599246.1_Missense_Mutation_p.R24C	p.R76C			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	5	846	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	116					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.226C>T	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341556	0.81911	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.19669	2.13;2.13;2.13	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.986;0.993;0.998;0.993	T	0.56896	-0.7903	10	0.66056	D	0.02	-9.9201	15.3587	0.74453	0.0:0.0:1.0:0.0	.	76;116;24;116	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	C	116;24;76	ENSP00000322991:R116C;ENSP00000440973:R24C;ENSP00000385161:R76C	ENSP00000322991:R116C	R	-	1	0	BCAT2	53995321	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.796000	0.75145	2.282000	0.76494	0.561000	0.74099	CGC		0.657	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			19	99	0	0	0	1	0	19	99				
COPB1	1315	broad.mit.edu	37	11	14481798	14481798	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:14481798G>A	ENST00000249923.3	-	20	2902	c.2602C>T	c.(2602-2604)Cac>Tac	p.H868Y	COPB1_ENST00000439561.2_Missense_Mutation_p.H868Y	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	868					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTTAATATGTGCTGTAAGTAG	0.358																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(2602-2604)Cac>Tac		coatomer protein complex, subunit beta 1							163.0	152.0	156.0					11																	14481798		2199	4294	6493	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14481798G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2602C>T	11.37:g.14481798G>A	ENSP00000249923:p.His868Tyr					COPB1_ENST00000439561.2_Missense_Mutation_p.H868Y	p.H868Y	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			20	2902	-			868					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.2602C>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916444	0.92249	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.48522	0.81;0.81	6.07	6.07	0.98685	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.78801	2.425	0.80722	D	1	P	0.50272	0.933	P	0.57057	0.812	T	0.64381	-0.6421	10	0.41790	T	0.15	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	868	P53618	COPB_HUMAN	Y	868	ENSP00000249923:H868Y;ENSP00000397873:H868Y	ENSP00000249923:H868Y	H	-	1	0	COPB1	14438374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	2.890000	0.99128	0.585000	0.79938	CAC		0.358	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		14	0	0	0	0	1	0	14	0				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	35	0	0	0	1	0	4	35				
SLC26A3	1811	broad.mit.edu	37	7	107417136	107417136	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:107417136C>T	ENST00000340010.5	-	14	1714	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	SLC26A3_ENST00000422236.2_Silent_p.T475T	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	510					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TATTAGCCAGCGTGCTGCATT	0.333																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1528-1530)acG>acA		solute carrier family 26 (anion exchanger), member 3							91.0	86.0	87.0					7																	107417136		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107417136C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1530G>A	7.37:g.107417136C>T						SLC26A3_ENST00000422236.2_Silent_p.T475T	p.T510T	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			14	1714	-			510						Silent	SNP	ENST00000340010.5	37	c.1530G>A	CCDS5748.1																																																																																				0.333	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		5	71	0	0	0	1	0	5	71				
ACIN1	22985	broad.mit.edu	37	14	23530753	23530753	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:23530753G>A	ENST00000262710.1	-	17	3679	c.3352C>T	c.(3352-3354)Cac>Tac	p.H1118Y	ACIN1_ENST00000457657.1_Missense_Mutation_p.H1078Y|ACIN1_ENST00000555053.1_Missense_Mutation_p.H1105Y|ACIN1_ENST00000397341.3_Missense_Mutation_p.H360Y|ACIN1_ENST00000605057.1_Missense_Mutation_p.H1060Y|ACIN1_ENST00000357481.2_Missense_Mutation_p.H360Y|ACIN1_ENST00000338631.6_Missense_Mutation_p.H391Y|ACIN1_ENST00000557515.1_Missense_Mutation_p.H359Y	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1118	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGTGGGGGGTGCAGGGGCCGT	0.662																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3352-3354)Cac>Tac		apoptotic chromatin condensation inducer 1							6.0	7.0	7.0					14																	23530753		2128	4112	6240	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530753G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3352C>T	14.37:g.23530753G>A	ENSP00000262710:p.His1118Tyr					ACIN1_ENST00000397341.3_Missense_Mutation_p.H360Y|ACIN1_ENST00000605057.1_Missense_Mutation_p.H1060Y|ACIN1_ENST00000457657.1_Missense_Mutation_p.H1078Y|ACIN1_ENST00000557515.1_Missense_Mutation_p.H359Y|ACIN1_ENST00000338631.6_Missense_Mutation_p.H391Y|ACIN1_ENST00000357481.2_Missense_Mutation_p.H360Y|ACIN1_ENST00000555053.1_Missense_Mutation_p.H1105Y	p.H1118Y	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3679	-	all_cancers(95;1.36e-05)		1118			Pro-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3352C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317916	0.60524	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T	0.14640	2.49;2.49;2.49	4.93	4.93	0.64822	.	0.000000	0.41294	D	0.000913	T	0.15349	0.0370	N	0.08118	0	0.35941	D	0.833236	D;P;P;P;P	0.56968	0.978;0.851;0.851;0.871;0.871	P;P;P;B;B	0.58391	0.731;0.838;0.838;0.446;0.446	T	0.23619	-1.0183	10	0.59425	D	0.04	-9.6754	13.5278	0.61605	0.0:0.0:1.0:0.0	.	1105;1118;1078;391;360	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	Y	359;391;360;1118;1078;360;1105	ENSP00000262710:H1118Y;ENSP00000405677:H1078Y;ENSP00000451328:H1105Y	ENSP00000262710:H1118Y	H	-	1	0	ACIN1	22600593	0.251000	0.23961	1.000000	0.80357	0.961000	0.63080	-0.176000	0.09811	2.559000	0.86315	0.551000	0.68910	CAC		0.662	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		6	6	0	0	0	1	0	6	6				
PTBP2	58155	broad.mit.edu	37	1	97217025	97217025	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:97217025G>A	ENST00000426398.2	+	3	127	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000609116.1_Silent_p.P28P|PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000370198.1_Silent_p.P28P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	28					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCAGTAGTCCGAACTCTAATA	0.348																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(82-84)ccG>ccA		polypyrimidine tract binding protein 2							228.0	217.0	221.0					1																	97217025		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97217025G>A	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.84G>A	1.37:g.97217025G>A						PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000426398.2_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000370197.1_Silent_p.P28P	p.P28P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	3	166	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	28					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.84G>A	CCDS754.1																																																																																				0.348	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			75	76	0	0	0	1	0	75	76				
INSRR	3645	broad.mit.edu	37	1	156823762	156823762	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:156823762C>T	ENST00000368195.3	-	2	815	c.419G>A	c.(418-420)cGt>cAt	p.R140H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	140					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTCTCCACACGCACAGCCCC	0.627																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(418-420)cGt>cAt		insulin receptor-related receptor							60.0	54.0	56.0					1																	156823762		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823762C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.419G>A	1.37:g.156823762C>T	ENSP00000357178:p.Arg140His					NTRK1_ENST00000392302.2_Intron	p.R140H	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			2	815	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		140					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.419G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919867	0.92249	.	.	ENSG00000027644	ENST00000368195	T	0.80123	-1.34	5.06	5.06	0.68205	EGF receptor, L domain (1);	0.000000	0.48767	D	0.000164	D	0.88362	0.6416	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.89995	0.4110	9	0.87932	D	0	.	15.916	0.79517	0.0:1.0:0.0:0.0	.	140	P14616	INSRR_HUMAN	H	140	ENSP00000357178:R140H	ENSP00000357178:R140H	R	-	2	0	INSRR	155090386	1.000000	0.71417	0.949000	0.38748	0.989000	0.77384	7.811000	0.86092	2.367000	0.80283	0.557000	0.71058	CGT		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		19	22	0	0	0	1	0	19	22				
DIEXF	27042	broad.mit.edu	37	1	210014237	210014237	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:210014237C>A	ENST00000491415.2	+	8	1379	c.1322C>A	c.(1321-1323)cCg>cAg	p.P441Q		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	441					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTCTATGCCCCGTTTTACTCC	0.468																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1321-1323)cCg>cAg		digestive organ expansion factor homolog (zebrafish)							166.0	160.0	162.0					1																	210014237		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210014237C>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1322C>A	1.37:g.210014237C>A	ENSP00000419005:p.Pro441Gln						p.P441Q	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			8	1379	+			441					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1322C>A	CCDS1493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.102317|4.102317	0.76983|0.76983	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000491415|ENST00000457820	T|.	0.42900|.	0.96|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.103911|.	0.64402|.	D|.	0.000002|.	T|T	0.56963|0.56963	0.2021|0.2021	L|L	0.31664|0.31664	0.95|0.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.26408|.	T|.	0.33|.	-20.6652|-20.6652	17.1098|17.1098	0.86672|0.86672	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	441|.	Q68CQ4|.	DIEXF_HUMAN|.	Q|S	441|122	ENSP00000419005:P441Q|.	ENSP00000419005:P441Q|.	P|R	+|+	2|1	0|0	DIEXF|DIEXF	208080860|208080860	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.733000|0.733000	0.41908|0.41908	7.642000|7.642000	0.83385|0.83385	2.461000|2.461000	0.83175|0.83175	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.468	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		36	40	1	0	9.8876e-21	1	1.0792e-20	36	40				
ZNF536	9745	broad.mit.edu	37	19	31040264	31040264	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:31040264G>A	ENST00000355537.3	+	4	3885	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1246					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.A1246A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCTTGGCGGGCCTGCCAA	0.632																																						ENST00000355537.3																			1	Substitution - coding silent(1)	p.A1246A(1)	endometrium(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3736-3738)gcG>gcA		zinc finger protein 536							18.0	20.0	19.0					19																	31040264		2199	4291	6490	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040264G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3738G>A	19.37:g.31040264G>A							p.A1246A	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3885	+	Esophageal squamous(110;0.0834)		1246					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3738G>A	CCDS32984.1																																																																																				0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		36	20	0	0	0	1	0	36	20				
PRPF8	10594	broad.mit.edu	37	17	1582969	1582969	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:1582969G>A	ENST00000572621.1	-	8	1488	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	PRPF8_ENST00000304992.6_Missense_Mutation_p.P408L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	408					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAAGGGCCGCGGGGCCCAGAG	0.572																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(1222-1224)cCg>cTg		pre-mRNA processing factor 8							127.0	129.0	128.0					17																	1582969		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582969G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1223C>T	17.37:g.1582969G>A	ENSP00000460348:p.Pro408Leu					PRPF8_ENST00000304992.6_Missense_Mutation_p.P408L	p.P408L			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	8	1488	-			408					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.1223C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399499	0.96030	.	.	ENSG00000174231	ENST00000304992	D	0.82803	-1.65	5.73	5.73	0.89815	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	H	0.94582	3.555	0.80722	D	1	D	0.59767	0.986	P	0.60236	0.871	D	0.94523	0.7729	10	0.87932	D	0	-6.8261	19.9025	0.96993	0.0:0.0:1.0:0.0	.	408	Q6P2Q9	PRP8_HUMAN	L	408	ENSP00000304350:P408L	ENSP00000304350:P408L	P	-	2	0	PRPF8	1529719	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.835000	0.99442	2.722000	0.93159	0.655000	0.94253	CCG		0.572	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			97	5	0	0	0	1	0	97	5				
KYNU	8942	broad.mit.edu	37	2	143718291	143718291	+	Silent	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:143718291T>C	ENST00000264170.4	+	8	939	c.681T>C	c.(679-681)acT>acC	p.T227T	KYNU_ENST00000375773.2_Silent_p.T227T|KYNU_ENST00000409512.1_Silent_p.T227T	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		ATTTTTACACTGGACAGCACT	0.428																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(679-681)acT>acC		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						137.0	134.0	135.0					2																	143718291		2203	4300	6503	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143718291T>C	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.681T>C	2.37:g.143718291T>C						KYNU_ENST00000409512.1_Silent_p.T227T|KYNU_ENST00000375773.2_Silent_p.T227T	p.T227T	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	8	939	+			227						Silent	SNP	ENST00000264170.4	37	c.681T>C	CCDS2183.1																																																																																				0.428	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		14	56	0	0	0	1	0	14	56				
AKAP9	10142	broad.mit.edu	37	7	91714219	91714219	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:91714219G>A	ENST00000359028.2	+	35	9034	c.8809G>A	c.(8809-8811)Gaa>Aaa	p.E2937K	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2933K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2937					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGAAAGTGAAAGTGCAAC	0.368			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8809-8811)Gaa>Aaa		A kinase (PRKA) anchor protein 9							105.0	109.0	108.0					7																	91714219		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91714219G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8809G>A	7.37:g.91714219G>A	ENSP00000351922:p.Glu2937Lys					AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2933K	p.E2937K			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		35	9034	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2937					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8809G>A		.	.	.	.	.	.	.	.	.	.	G	19.57	3.851887	0.71719	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000413120;ENST00000394534	T;T;T	0.04083	3.79;3.83;3.71	5.06	5.06	0.68205	.	0.000000	0.41605	D	0.000858	T	0.20129	0.0484	M	0.76574	2.34	0.80722	D	1	D;D;P;P;P	0.67145	0.996;0.989;0.849;0.906;0.906	P;P;B;P;P	0.62813	0.907;0.801;0.398;0.602;0.602	T	0.00460	-1.1726	10	0.39692	T	0.17	.	18.7865	0.91957	0.0:0.0:1.0:0.0	.	2937;2937;2937;2933;2925	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	K	2933;2937;2937;779	ENSP00000348573:E2933K;ENSP00000351922:E2937K;ENSP00000378042:E779K	ENSP00000348573:E2933K	E	+	1	0	AKAP9	91552155	1.000000	0.71417	0.957000	0.39632	0.991000	0.79684	6.337000	0.72958	2.520000	0.84964	0.561000	0.74099	GAA		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		51	106	0	0	0	1	0	51	106				
CYP1B1	1545	broad.mit.edu	37	2	38301893	38301893	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:38301893G>A	ENST00000260630.3	-	2	1040	c.639C>T	c.(637-639)cgC>cgT	p.R213R	CYP1B1_ENST00000407341.1_Silent_p.R213R|CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1-AS1_ENST00000431999.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	213					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	CGTGGCTGTAGCGGCAGCCGA	0.701																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(637-639)cgC>cgT		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						9.0	11.0	11.0					2																	38301893		2166	4242	6408	SO:0001819	synonymous_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38301893G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.639C>T	2.37:g.38301893G>A						CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Silent_p.R213R	p.R213R	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			2	1040	-		all_hematologic(82;0.21)	213					Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	37	c.639C>T	CCDS1793.1																																																																																				0.701	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		4	14	0	0	0	1	0	4	14				
CTNND2	1501	broad.mit.edu	37	5	10981913	10981913	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:10981913G>A	ENST00000304623.8	-	21	3578	c.3389C>T	c.(3388-3390)gCg>gTg	p.A1130V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.A1039V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A697V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A1072V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A793V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1130					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCAGCGGGCGCACCATAAGA	0.343																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(3388-3390)gCg>gTg		catenin (cadherin-associated protein), delta 2							161.0	157.0	158.0					5																	10981913		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10981913G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3389C>T	5.37:g.10981913G>A	ENSP00000307134:p.Ala1130Val					CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A793V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A1039V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A1072V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A697V	p.A1130V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			21	3578	-			1130					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3389C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851636	0.71719	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77358	-0.96;-0.99;-0.95;-1.09;-1.09	6.04	6.04	0.98038	.	0.221881	0.47852	N	0.000219	T	0.62380	0.2423	N	0.08118	0	0.45822	D	0.99869	B;B;B	0.14438	0.001;0.0;0.01	B;B;B	0.06405	0.001;0.001;0.002	T	0.59375	-0.7466	10	0.59425	D	0.04	-16.8334	15.6292	0.76888	0.0669:0.0:0.9331:0.0	.	793;722;1130	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	1130;1072;1039;225;697;793	ENSP00000307134:A1130V;ENSP00000352661:A1072V;ENSP00000426510:A1039V;ENSP00000391155:A697V;ENSP00000426887:A793V	ENSP00000307134:A1130V	A	-	2	0	CTNND2	11034913	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.449000	0.80643	2.873000	0.98535	0.561000	0.74099	GCG		0.343	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		21	57	0	0	0	1	0	21	57				
MALSU1	115416	broad.mit.edu	37	7	23347508	23347508	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:23347508C>T	ENST00000466681.1	+	3	610	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	153					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											GAAATGTAAACGTGACCCTCA	0.428																																						ENST00000466681.1																			0											c.(457-459)Cgt>Tgt		mitochondrial assembly of ribosomal large subunit 1							239.0	211.0	220.0					7																	23347508		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23347508C>T	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.457C>T	7.37:g.23347508C>T	ENSP00000419370:p.Arg153Cys						p.R153C	NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN			3	610	+			153					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.457C>T	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	C	4.226	0.040799	0.08196	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.04	3.87	0.44632	.	0.785098	0.12582	N	0.456327	T	0.30417	0.0764	L	0.45352	1.415	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28170	-1.0052	9	0.40728	T	0.16	-4.6305	1.9016	0.03269	0.5778:0.144:0.1441:0.1341	.	153	Q96EH3	CG030_HUMAN	C	153	.	ENSP00000419370:R153C	R	+	1	0	C7orf30	23314033	0.002000	0.14202	0.273000	0.24645	0.084000	0.17831	0.792000	0.26929	0.863000	0.35553	-0.275000	0.10095	CGT		0.428	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		16	111	0	0	0	1	0	16	111				
FANCC	2176	broad.mit.edu	37	9	97912337	97912337	+	Missense_Mutation	SNP	C	C	T	rs370346767		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:97912337C>T	ENST00000289081.3	-	7	808	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	FANCC_ENST00000375305.1_Missense_Mutation_p.R185Q	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	185					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GACACAAACTCGTGACAGGGA	0.473			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group C"""			L		"""AML, leukemia"""			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(553-555)cGa>cAa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C		C	GLN/ARG	0,4406		0,0,2203	64.0	66.0	65.0		554	-0.6	0.8	9		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCC	NM_000136.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	185/559	97912337	1,13005	2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97912337C>T	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.554G>A	9.37:g.97912337C>T	ENSP00000289081:p.Arg185Gln					FANCC_ENST00000375305.1_Missense_Mutation_p.R185Q	p.R185Q	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			7	808	-		Acute lymphoblastic leukemia(62;0.138)	185					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.554G>A	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093915	0.36952	0.0	1.16E-4	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.49720	0.77;0.77	4.77	-0.552	0.11818	.	1.138670	0.06457	N	0.728836	T	0.34687	0.0906	L	0.51422	1.61	0.20703	N	0.999867	B	0.20671	0.047	B	0.15484	0.013	T	0.19549	-1.0302	10	0.13108	T	0.6	-0.1023	3.2244	0.06726	0.2392:0.3373:0.0:0.4235	.	185	Q00597	FANCC_HUMAN	Q	185	ENSP00000289081:R185Q;ENSP00000364454:R185Q	ENSP00000289081:R185Q	R	-	2	0	FANCC	96952158	0.117000	0.22190	0.843000	0.33291	0.213000	0.24496	0.240000	0.18042	0.100000	0.17581	0.650000	0.86243	CGA		0.473	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		9	8	0	0	0	1	0	9	8				
HAGHL	84264	broad.mit.edu	37	16	778930	778930	+	Missense_Mutation	SNP	G	G	T	rs552145125|rs555429162	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:778930G>T	ENST00000341413.4	+	7	916	c.635G>T	c.(634-636)gGg>gTg	p.G212V	HAGHL_ENST00000549114.1_3'UTR|NARFL_ENST00000562862.1_5'Flank|CCDC78_ENST00000293889.6_5'Flank|HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000561546.1_Intron|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000564545.1_3'UTR			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	212							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				AAGAGGGTGGGGGGGGAGGGA	0.652																																					Pancreas(46;538 1326 12403 32360)	ENST00000341413.4																			0				lung(3)	3						c.(634-636)gGg>gTg		hydroxyacylglutathione hydrolase-like							4.0	5.0	5.0					16																	778930		2022	4092	6114	SO:0001583	missense	84264						hydrolase activity|metal ion binding	g.chr16:778930G>T	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"""hydroxyacyl glutathione hydrolase-like"""			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.635G>T	16.37:g.778930G>T	ENSP00000341952:p.Gly212Val					HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000561546.1_Intron|HAGHL_ENST00000389703.3_Intron	p.G212V			Q6PII5	HAGHL_HUMAN			7	916	+		Hepatocellular(780;0.00335)	212					A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Missense_Mutation	SNP	ENST00000341413.4	37	c.635G>T		.	.	.	.	.	.	.	.	.	.	G	14.23	2.471967	0.43942	.	.	ENSG00000103253	ENST00000341413	D	0.95885	-3.84	3.68	0.535	0.17133	.	0.289077	0.30538	N	0.009407	D	0.93844	0.8031	.	.	.	0.09310	N	0.999995	D	0.57899	0.981	P	0.56960	0.81	D	0.86037	0.1517	9	0.31617	T	0.26	.	2.8274	0.05489	0.2437:0.0:0.5346:0.2217	.	212	Q6PII5	HAGHL_HUMAN	V	212	ENSP00000341952:G212V	ENSP00000341952:G212V	G	+	2	0	HAGHL	718931	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	-0.419000	0.07071	0.304000	0.22809	0.561000	0.74099	GGG		0.652	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		4	2	1	0	0.000602214	1	0.000615979	4	2				
PAPPA2	60676	broad.mit.edu	37	1	176709279	176709279	+	Silent	SNP	G	G	A	rs201994613	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:176709279G>A	ENST00000367662.3	+	14	5262	c.4098G>A	c.(4096-4098)tcG>tcA	p.S1366S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1366					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1366S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGGTCTTTCGGCTCCCAGTA	0.507													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19046	0.0		0.0	False		,,,				2504	0.0					ENST00000367662.3																			1	Substitution - coding silent(1)	p.S1366S(1)	lung(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4096-4098)tcG>tcA		pappalysin 2		G		1,4007		0,1,2003	107.0	105.0	106.0		4098	0.4	0.0	1		106	0,8350		0,0,4175	no	coding-synonymous	PAPPA2	NM_020318.2		0,1,6178	AA,AG,GG		0.0,0.025,0.0081		1366/1792	176709279	1,12357	2004	4175	6179	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709279G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4098G>A	1.37:g.176709279G>A							p.S1366S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			14	5262	+			1366					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4098G>A	CCDS41438.1																																																																																				0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			33	32	0	0	0	1	0	33	32				
PCDHB5	26167	broad.mit.edu	37	5	140515250	140515250	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:140515250T>A	ENST00000231134.5	+	1	451	c.234T>A	c.(232-234)gaT>gaA	p.D78E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGCTTGATATAAAGACCG	0.502																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(232-234)gaT>gaA									63.0	70.0	68.0					5																	140515250		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515250T>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.234T>A	5.37:g.140515250T>A	ENSP00000231134:p.Asp78Glu						p.D78E	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	451	+			78			Cadherin 1.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.234T>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.522307	0.27211	.	.	ENSG00000113209	ENST00000231134	T	0.18960	2.18	5.37	2.97	0.34412	Cadherin, N-terminal (1);Cadherin (2);	.	.	.	.	T	0.19446	0.0467	L	0.47190	1.495	0.09310	N	1	B	0.20052	0.041	B	0.26310	0.068	T	0.21314	-1.0249	9	0.54805	T	0.06	.	6.7433	0.23449	0.0:0.1391:0.1286:0.7323	.	78	Q9Y5E4	PCDB5_HUMAN	E	78	ENSP00000231134:D78E	ENSP00000231134:D78E	D	+	3	2	PCDHB5	140495434	0.000000	0.05858	0.006000	0.13384	0.792000	0.44763	-0.663000	0.05299	0.982000	0.38575	-0.389000	0.06534	GAT		0.502	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		37	59	0	0	0	1	0	37	59				
TMF1	7110	broad.mit.edu	37	3	69093748	69093748	+	Splice_Site	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:69093748T>C	ENST00000398559.2	-	3	1564		c.e3-2		CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Splice_Site|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1						acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTCAACTGTCTGGATAAGGCG	0.348																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.e3-2		TATA element modulatory factor 1							75.0	75.0	75.0					3																	69093748		1805	4071	5876	SO:0001630	splice_region_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69093748T>C		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1348-2A>G	3.37:g.69093748T>C						CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Splice_Site|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA		NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	3	1603	-		Lung NSC(201;0.0193)|Prostate(884;0.174)						B7ZLJ2|Q17R87|Q59GK0	Splice_Site	SNP	ENST00000398559.2	37		CCDS43105.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544374	0.65198	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9748	0.80054	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMF1	69176438	1.000000	0.71417	0.993000	0.49108	0.820000	0.46376	7.119000	0.77145	2.183000	0.69458	0.477000	0.44152	.		0.348	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	Intron	6	19	0	0	0	1	0	6	19				
PCDHA6	56142	broad.mit.edu	37	5	140209479	140209479	+	Silent	SNP	A	A	G	rs201316180	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:140209479A>G	ENST00000529310.1	+	1	1917	c.1803A>G	c.(1801-1803)tcA>tcG	p.S601S	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCCGACTCAGGCTACAACG	0.662													.|||	7	0.00139776	0.0	0.0	5008	,	,		16847	0.0069		0.0	False		,,,				2504	0.0					ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1801-1803)tcA>tcG									85.0	86.0	86.0					5																	140209479		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140209479A>G	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1803A>G	5.37:g.140209479A>G						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.S601S	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1917	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1803A>G	CCDS47281.1																																																																																				0.662	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		5	215	0	0	0	1	0	5	215				
RASEF	158158	broad.mit.edu	37	9	85615415	85615415	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:85615415T>C	ENST00000376447.3	-	11	1768	c.1508A>G	c.(1507-1509)cAa>cGa	p.Q503R		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	503					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AACAGACCCTTGGGGCTTCCA	0.443																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1507-1509)cAa>cGa		RAS and EF-hand domain containing							72.0	78.0	76.0					9																	85615415		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615415T>C	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1508A>G	9.37:g.85615415T>C	ENSP00000365630:p.Gln503Arg						p.Q503R	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			11	1768	-			503					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1508A>G	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	4.532	0.098756	0.08681	.	.	ENSG00000165105	ENST00000376447	T	0.60424	0.19	5.77	-5.02	0.02982	.	1.118960	0.06627	N	0.758540	T	0.46639	0.1403	L	0.36672	1.1	0.09310	N	1	B	0.18610	0.029	B	0.15870	0.014	T	0.49341	-0.8950	10	0.62326	D	0.03	.	13.6697	0.62418	0.0:0.0661:0.5922:0.3417	.	503	Q8IZ41	RASEF_HUMAN	R	503	ENSP00000365630:Q503R	ENSP00000365630:Q503R	Q	-	2	0	RASEF	84805235	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.085000	0.11250	-0.533000	0.06323	-0.464000	0.05259	CAA		0.443	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		4	22	0	0	0	1	0	4	22				
TFAM	7019	broad.mit.edu	37	10	60154714	60154714	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:60154714C>T	ENST00000487519.1	+	7	1147	c.621C>T	c.(619-621)gaC>gaT	p.D207D	TFAM_ENST00000373895.3_Silent_p.D175D|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	207					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTAAAGAGGACGAAACTCGTT	0.289																																						ENST00000487519.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(619-621)gaC>gaT		transcription factor A, mitochondrial							69.0	65.0	66.0					10																	60154714		2203	4300	6503	SO:0001819	synonymous_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60154714C>T	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.621C>T	10.37:g.60154714C>T						TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Silent_p.D175D	p.D207D	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN			7	1147	+			207					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Silent	SNP	ENST00000487519.1	37	c.621C>T	CCDS7253.1																																																																																				0.289	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		3	1	0	0	0	1	0	3	1				
MUC2	4583	broad.mit.edu	37	11	1083268	1083268	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:1083268G>A	ENST00000441003.2	+	16	2195	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	MUC2_ENST00000359061.5_Missense_Mutation_p.R723H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	723					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTTACCACCGCGGTCTCTAC	0.682																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2167-2169)cGc>cAc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						27.0	32.0	31.0					11																	1083268		2010	4157	6167	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083268G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2168G>A	11.37:g.1083268G>A	ENSP00000415183:p.Arg723His					MUC2_ENST00000359061.5_Missense_Mutation_p.R723H	p.R723H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2195	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	723					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2168G>A		.	.	.	.	.	.	.	.	.	.	g	5.158	0.214735	0.09810	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.22134	1.97;1.97	4.36	-4.67	0.03319	.	0.859620	0.09525	N	0.790283	T	0.12220	0.0297	N	0.20766	0.605	0.09310	N	1	B	0.26041	0.14	B	0.21360	0.034	T	0.25433	-1.0132	10	0.20519	T	0.43	.	15.1933	0.73063	0.8346:0.0:0.1654:0.0	.	723	E7EUV1	.	H	723	ENSP00000415183:R723H;ENSP00000351956:R723H	ENSP00000351956:R723H	R	+	2	0	MUC2	1073268	0.000000	0.05858	0.003000	0.11579	0.200000	0.23975	-0.151000	0.10175	-0.810000	0.04375	0.457000	0.33378	CGC		0.682	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	11	0	0	0	1	0	6	11				
TULP4	56995	broad.mit.edu	37	6	158923254	158923254	+	Silent	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:158923254T>C	ENST00000367097.3	+	13	3916	c.2559T>C	c.(2557-2559)ccT>ccC	p.P853P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	853					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCCGCCCCCTCTGCCGCCCC	0.652																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2557-2559)ccT>ccC		tubby like protein 4							7.0	9.0	8.0					6																	158923254		2122	4178	6300	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923254T>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2559T>C	6.37:g.158923254T>C						TULP4_ENST00000367094.2_Intron	p.P853P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3916	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	853					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2559T>C	CCDS34561.1																																																																																				0.652	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		3	8	0	0	0	1	0	3	8				
KNDC1	85442	broad.mit.edu	37	10	135000063	135000063	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:135000063G>A	ENST00000304613.3	+	6	1232	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	KNDC1_ENST00000368572.2_Missense_Mutation_p.G404E|KNDC1_ENST00000368571.2_Missense_Mutation_p.G339E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	404					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCAGCCAGGGGCCAGCAGAG	0.662																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1210-1212)gGg>gAg		kinase non-catalytic C-lobe domain (KIND) containing 1							24.0	31.0	29.0					10																	135000063		2200	4294	6494	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135000063G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1211G>A	10.37:g.135000063G>A	ENSP00000304437:p.Gly404Glu					KNDC1_ENST00000368572.2_Missense_Mutation_p.G404E|KNDC1_ENST00000368571.2_Missense_Mutation_p.G339E	p.G404E			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	6	1232	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	404					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1211G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	6.890	0.533658	0.13188	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.17691	2.75;2.75;2.26	2.41	-1.28	0.09318	.	0.486621	0.16534	U	0.210244	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	B;B	0.20459	0.045;0.003	B;B	0.16289	0.015;0.0	T	0.21348	-1.0248	10	0.45353	T	0.12	-10.9861	3.0475	0.06158	0.3342:0.2253:0.4405:0.0	.	339;404	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	E	404;404;339	ENSP00000304437:G404E;ENSP00000357561:G404E;ENSP00000357560:G339E	ENSP00000304437:G404E	G	+	2	0	KNDC1	134850053	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.126000	0.03254	-0.275000	0.09219	-0.387000	0.06579	GGG		0.662	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		38	2	0	0	0	1	0	38	2				
PAPD7	11044	broad.mit.edu	37	5	6742670	6742670	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:6742670C>T	ENST00000230859.6	+	5	455	c.326C>T	c.(325-327)aCg>aTg	p.T109M		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	339	Ser-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AACATGGAGACGGGCGTCCGG	0.468																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(325-327)aCg>aTg		PAP associated domain containing 7							82.0	81.0	81.0					5																	6742670		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6742670C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.326C>T	5.37:g.6742670C>T	ENSP00000230859:p.Thr109Met						p.T109M	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			5	455	+			109					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.326C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741536	0.89573	.	.	ENSG00000112941	ENST00000230859	T	0.43294	0.95	5.19	5.19	0.71726	Nucleotidyl transferase domain (1);	0.049407	0.85682	D	0.000000	T	0.58235	0.2108	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.58418	-0.7640	10	0.52906	T	0.07	-0.4407	16.911	0.86140	0.0:1.0:0.0:0.0	.	109;109	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	M	109	ENSP00000230859:T109M	ENSP00000230859:T109M	T	+	2	0	PAPD7	6795670	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	3.152000	0.50677	2.418000	0.82041	0.655000	0.94253	ACG		0.468	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		26	22	0	0	0	1	0	26	22				
CD14	929	broad.mit.edu	37	5	140011859	140011859	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:140011859G>A	ENST00000302014.6	-	2	1339	c.710C>T	c.(709-711)cCc>cTc	p.P237L	CD14_ENST00000401743.2_Missense_Mutation_p.P237L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	237					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCCTGTGGGCGTCTCCAT	0.657																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(709-711)cCc>cTc		CD14 molecule							37.0	42.0	40.0					5																	140011859		2203	4298	6501	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140011859G>A		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.710C>T	5.37:g.140011859G>A	ENSP00000304236:p.Pro237Leu					CD14_ENST00000401743.2_Missense_Mutation_p.P237L	p.P237L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1339	-			237					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.710C>T	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	G	0.754	-0.771759	0.02951	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	D;D	0.89343	-2.5;-2.5	5.96	-1.94	0.07571	.	1.422770	0.04548	N	0.389325	T	0.72179	0.3428	N	0.04260	-0.245	0.09310	N	0.999992	B	0.31730	0.337	B	0.27715	0.082	T	0.64032	-0.6502	10	0.02654	T	1	-5.9674	11.1575	0.48497	0.5483:0.0:0.4517:0.0	.	237	P08571	CD14_HUMAN	L	237	ENSP00000304236:P237L;ENSP00000385519:P237L	ENSP00000304236:P237L	P	-	2	0	CD14	139992043	0.000000	0.05858	0.010000	0.14722	0.313000	0.28021	-0.415000	0.07106	-0.289000	0.09038	0.655000	0.94253	CCC		0.657	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		22	76	0	0	0	1	0	22	76				
DYNAP	284254	broad.mit.edu	37	18	52265364	52265364	+	Silent	SNP	C	C	T	rs373983597		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:52265364C>T	ENST00000321600.1	+	3	667	c.621C>T	c.(619-621)acC>acT	p.T207T	DYNAP_ENST00000585973.1_Silent_p.T155T	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	207	Thr-rich.				activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TTGCACCTACCGATCATTTAT	0.428																																						ENST00000321600.1																			0											c.(619-621)acC>acT		dynactin associated protein		C		0,4404		0,0,2202	67.0	64.0	65.0		621	1.5	0.0	18		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C18orf26	NM_173629.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		207/211	52265364	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	284254							g.chr18:52265364C>T	AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.621C>T	18.37:g.52265364C>T						DYNAP_ENST00000585973.1_Silent_p.T155T	p.T207T	NM_173629.1	NP_775900.1					3	667	+									Silent	SNP	ENST00000321600.1	37	c.621C>T	CCDS11957.1																																																																																				0.428	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629		35	44	0	0	0	1	0	35	44				
CHRNA4	1137	broad.mit.edu	37	20	61981956	61981956	+	Silent	SNP	G	G	A	rs201335931		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:61981956G>A	ENST00000370263.4	-	5	1028	c.807C>T	c.(805-807)tcC>tcT	p.S269S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	269					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CGCCACACTCGGAGGGCAGGT	0.602																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(805-807)tcC>tcT		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						244.0	184.0	204.0					20																	61981956		2203	4300	6503	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981956G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.807C>T	20.37:g.61981956G>A						CHRNA4_ENST00000463705.1_5'UTR	p.S269S	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1028	-	all_cancers(38;1.71e-10)		269					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.807C>T	CCDS13517.1																																																																																				0.602	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			20	83	0	0	0	1	0	20	83				
TYMS	7298	broad.mit.edu	37	18	672902	672902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:672902C>T	ENST00000323274.10	+	7	986	c.847C>T	c.(847-849)Cga>Tga	p.R283*	TYMS_ENST00000323224.7_Nonsense_Mutation_p.R249*|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323250.5_Nonsense_Mutation_p.R200*|ENOSF1_ENST00000383578.3_3'UTR|ENOSF1_ENST00000583973.1_5'Flank|ENOSF1_ENST00000319815.6_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	283					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.R283*(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	CAGGATTCTTCGAAAAGTTGA	0.393																																						ENST00000323274.10																			1	Substitution - Nonsense(1)	p.R283*(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(847-849)Cga>Tga		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						94.0	101.0	98.0					18																	672902		2203	4300	6503	SO:0001587	stop_gained	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:672902C>T	X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.847C>T	18.37:g.672902C>T	ENSP00000315644:p.Arg283*					TYMS_ENST00000323250.5_Nonsense_Mutation_p.R200*|TYMS_ENST00000323224.7_Nonsense_Mutation_p.R249*|ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000319815.6_3'UTR	p.R283*	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN			7	986	+			283					Q8WYK3|Q8WYK4	Nonsense_Mutation	SNP	ENST00000323274.10	37	c.847C>T	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973726	0.53720	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.9	5.9	0.94986	.	0.111500	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7752	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	283;249;200	.	ENSP00000314727:R249X	R	+	1	2	TYMS	662902	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.770000	0.62309	2.785000	0.95823	0.650000	0.86243	CGA		0.393	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		36	37	0	0	0	1	0	36	37				
POLE	5426	broad.mit.edu	37	12	133225985	133225985	+	Silent	SNP	G	G	A	rs116482376		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:133225985G>A	ENST00000320574.5	-	31	3955	c.3912C>T	c.(3910-3912)ccC>ccT	p.P1304P	POLE_ENST00000535270.1_Silent_p.P1277P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1304					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGATGGCCCCGGGCCTGAGCA	0.662								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0	0.0	5008	,	,		16147	0.0		0.001	False		,,,				2504	0.0					ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3910-3912)ccC>ccT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							27.0	30.0	29.0					12																	133225985		2202	4294	6496	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225985G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3912C>T	12.37:g.133225985G>A						POLE_ENST00000535270.1_Silent_p.P1277P	p.P1304P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	31	3955	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1304					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.3912C>T	CCDS9278.1																																																																																				0.662	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		34	38	0	0	0	1	0	34	38				
MED11	400569	broad.mit.edu	37	17	4638656	4638656	+	IGR	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:4638656C>T	ENST00000293777.5	+	0	833				RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000574412.1_Missense_Mutation_p.R169H|CXCL16_ENST00000293778.6_Missense_Mutation_p.R169H|CXCL16_ENST00000576153.1_5'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						GAGGGTGGGGCGCTGAGTGGA	0.597																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(505-507)cGc>cAc		chemokine (C-X-C motif) ligand 16							68.0	67.0	67.0					17																	4638656		2203	4300	6503	SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638656C>T	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638656C>T						CXCL16_ENST00000574412.1_Missense_Mutation_p.R169H|CXCL16_ENST00000576153.1_5'UTR	p.R169H	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN			4	928	-			150					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.506G>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	C	8.647	0.897237	0.17686	.	.	ENSG00000161921	ENST00000293778	T	0.31769	1.48	3.73	-0.366	0.12545	.	1.780110	0.02681	N	0.109688	T	0.12518	0.0304	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14090	-1.0485	10	0.29301	T	0.29	-0.0022	0.547	0.00655	0.2117:0.1294:0.2173:0.4417	.	150	Q9H2A7	CXL16_HUMAN	H	169	ENSP00000293778:R169H	ENSP00000293778:R169H	R	-	2	0	CXCL16	4585405	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.736000	0.04882	0.103000	0.17682	-0.424000	0.05967	CGC		0.597	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		3	24	0	0	0	1	0	3	24				
ADAM9	8754	broad.mit.edu	37	8	38865443	38865443	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:38865443A>G	ENST00000487273.2	+	2	214	c.136A>G	c.(136-138)Ata>Gta	p.I46V	ADAM9_ENST00000481513.1_Missense_Mutation_p.I46V|ADAM9_ENST00000466936.1_Missense_Mutation_p.I46V	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	46				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTATGAAATTATAACTCCTTG	0.318																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(136-138)Ata>Gta		ADAM metallopeptidase domain 9							73.0	74.0	74.0					8																	38865443		2202	4296	6498	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38865443A>G	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.136A>G	8.37:g.38865443A>G	ENSP00000419446:p.Ile46Val					ADAM9_ENST00000481513.1_Missense_Mutation_p.I46V|ADAM9_ENST00000466936.1_Missense_Mutation_p.I46V	p.I46V	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		2	214	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	46	Missing (in Ref. 2; no nucleotide entry).				B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.136A>G	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	A	3.021	-0.201833	0.06219	.	.	ENSG00000168615	ENST00000466936;ENST00000481513;ENST00000487273	T;T;T	0.03920	3.76;3.76;3.76	6.04	2.29	0.28610	Peptidase M12B, propeptide (1);	0.146210	0.64402	N	0.000010	T	0.02533	0.0077	N	0.12746	0.255	0.31653	N	0.646502	B;B;B	0.21071	0.0;0.051;0.046	B;B;B	0.28991	0.004;0.097;0.097	T	0.44697	-0.9311	10	0.02654	T	1	.	7.8195	0.29280	0.7633:0.0:0.2367:0.0	.	46;46;46	Q13443;C9J6H5;C9JPM3	ADAM9_HUMAN;.;.	V	46	ENSP00000420257:I46V;ENSP00000417066:I46V;ENSP00000419446:I46V	ENSP00000369249:I46V	I	+	1	0	ADAM9	38984600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.184000	0.32053	0.153000	0.19213	0.460000	0.39030	ATA		0.318	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			20	21	0	0	0	1	0	20	21				
SLC20A2	6575	broad.mit.edu	37	8	42275340	42275340	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:42275340C>A	ENST00000342228.3	-	11	2309	c.1940G>T	c.(1939-1941)gGg>gTg	p.G647V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.G647V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.G647V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	647					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGGAAGGATCCCATACATGAG	0.552																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(1939-1941)gGg>gTg		solute carrier family 20 (phosphate transporter), member 2							97.0	80.0	85.0					8																	42275340		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42275340C>A		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1940G>T	8.37:g.42275340C>A	ENSP00000340465:p.Gly647Val					SLC20A2_ENST00000520179.1_Missense_Mutation_p.G647V|SLC20A2_ENST00000520262.1_Missense_Mutation_p.G647V	p.G647V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		11	2309	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	647						Missense_Mutation	SNP	ENST00000342228.3	37	c.1940G>T	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343513	0.24339	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90261	-2.64;-2.64;-2.64	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	N	0.01576	-0.805	0.80722	D	1	B	0.17268	0.021	B	0.12156	0.007	T	0.70572	-0.4835	10	0.08837	T	0.75	-29.7866	14.7177	0.69284	0.0:0.8542:0.1458:0.0	.	647	Q08357	S20A2_HUMAN	V	647	ENSP00000340465:G647V;ENSP00000429754:G647V;ENSP00000429712:G647V	ENSP00000340465:G647V	G	-	2	0	SLC20A2	42394497	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	3.158000	0.50723	1.447000	0.47661	0.655000	0.94253	GGG		0.552	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			14	56	1	0	1.49906e-05	1	1.56007e-05	14	56				
UAP1L1	91373	broad.mit.edu	37	9	139972957	139972957	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:139972957C>T	ENST00000409858.3	+	3	530	c.498C>T	c.(496-498)taC>taT	p.Y166Y	UAP1L1_ENST00000476184.1_3'UTR|UAP1L1_ENST00000360271.3_Silent_p.Y43Y	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	166							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CTTGCAGGTACGTCATGACCA	0.667																																						ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(496-498)taC>taT		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							67.0	57.0	61.0					9																	139972957		2203	4300	6503	SO:0001819	synonymous_variant	91373						nucleotidyltransferase activity	g.chr9:139972957C>T	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.498C>T	9.37:g.139972957C>T						UAP1L1_ENST00000476184.1_3'UTR|UAP1L1_ENST00000360271.3_Silent_p.Y43Y	p.Y166Y	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	3	530	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	166					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP	ENST00000409858.3	37	c.498C>T	CCDS7028.2																																																																																				0.667	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		13	18	0	0	0	1	0	13	18				
SRCIN1	80725	broad.mit.edu	37	17	36707584	36707584	+	Silent	SNP	G	G	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:36707584G>T	ENST00000264659.7	-	15	2993	c.2769C>A	c.(2767-2769)acC>acA	p.T923T	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Silent_p.T957T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	795					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACTGTACTGGGTCAGGGCTG	0.617																																						ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2767-2769)acC>acA		SRC kinase signaling inhibitor 1							42.0	46.0	45.0					17																	36707584		2120	4238	6358	SO:0001819	synonymous_variant	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36707584G>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2769C>A	17.37:g.36707584G>T						SRCIN1_ENST00000578925.1_Silent_p.T957T|SRCIN1_ENST00000398579.4_5'UTR	p.T923T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			15	2993	-			795					Q75T46|Q8N4W8	Silent	SNP	ENST00000264659.7	37	c.2769C>A	CCDS45660.1																																																																																				0.617	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		20	20	1	0	1.96292e-10	1	2.07907e-10	20	20				
ZNF71	58491	broad.mit.edu	37	19	57133398	57133398	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:57133398G>A	ENST00000328070.6	+	3	977	c.743G>A	c.(742-744)gGc>gAc	p.G248D		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	248					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)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGGACTGCGGCAAGGCCTTC	0.662																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(742-744)gGc>gAc		zinc finger protein 71							57.0	55.0	56.0					19																	57133398		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133398G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.743G>A	19.37:g.57133398G>A	ENSP00000328245:p.Gly248Asp						p.G248D	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	977	+			248					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.743G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810317	0.90707	.	.	ENSG00000197951	ENST00000328070	T	0.20069	2.1	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33147	0.0853	N	0.26162	0.8	0.43745	D	0.996245	D	0.89917	1.0	D	0.97110	1.0	T	0.21586	-1.0241	9	0.87932	D	0	.	14.6514	0.68800	0.0:0.0:1.0:0.0	.	248	Q9NQZ8	ZNF71_HUMAN	D	248	ENSP00000328245:G248D	ENSP00000328245:G248D	G	+	2	0	ZNF71	61825210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.570000	0.53834	1.958000	0.56883	0.561000	0.74099	GGC		0.662	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		44	86	0	0	0	1	0	44	86				
DNAJC14	85406	broad.mit.edu	37	12	56221932	56221932	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:56221932A>G	ENST00000357606.3	-	3	800	c.511T>C	c.(511-513)Tat>Cat	p.Y171H	RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Y171H|DNAJC14_ENST00000317287.5_Missense_Mutation_p.Y171H			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	171					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCATCATCATATTCCTCTTCC	0.502																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(511-513)Tat>Cat		DnaJ (Hsp40) homolog, subfamily C, member 14							63.0	63.0	63.0					12																	56221932		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221932A>G	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.511T>C	12.37:g.56221932A>G	ENSP00000350223:p.Tyr171His					DNAJC14_ENST00000317287.5_Missense_Mutation_p.Y171H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Y171H	p.Y171H			Q6Y2X3	DJC14_HUMAN			3	800	-			171					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.511T>C	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931718	0.52866	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	T;T;T	0.32753	1.44;1.44;1.44	5.17	3.98	0.46160	.	0.350620	0.26574	N	0.023603	T	0.24736	0.0600	N	0.24115	0.695	0.29796	N	0.832821	P;P	0.50943	0.94;0.94	P;P	0.48030	0.564;0.564	T	0.04678	-1.0934	9	.	.	.	-9.9669	10.2625	0.43436	0.7945:0.2055:0.0:0.0	.	171;171	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	H	171	ENSP00000350223:Y171H;ENSP00000316240:Y171H;ENSP00000317500:Y171H	.	Y	-	1	0	DNAJC14	54508199	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.326000	0.43849	2.078000	0.62432	0.528000	0.53228	TAT		0.502	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		40	42	0	0	0	1	0	40	42				
SIL1	64374	broad.mit.edu	37	5	138456752	138456752	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:138456752C>T	ENST00000394817.2	-	3	355	c.216G>A	c.(214-216)ccG>ccA	p.P72P	SIL1_ENST00000265195.5_Silent_p.P72P|SIL1_ENST00000509534.1_Silent_p.P79P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	72	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTCATGCGTCGGGTGGAACA	0.547									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(214-216)ccG>ccA		SIL1 nucleotide exchange factor							109.0	112.0	111.0					5																	138456752		2203	4300	6503	SO:0001819	synonymous_variant	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138456752C>T	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.216G>A	5.37:g.138456752C>T						SIL1_ENST00000265195.5_Silent_p.P72P|SIL1_ENST00000509534.1_Silent_p.P79P	p.P72P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	355	-			72			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Silent	SNP	ENST00000394817.2	37	c.216G>A	CCDS4209.1																																																																																				0.547	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		81	50	0	0	0	1	0	81	50				
MECP2	4204	broad.mit.edu	37	X	153296733	153296733	+	Silent	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:153296733T>C	ENST00000303391.6	-	4	795	c.546A>G	c.(544-546)ccA>ccG	p.P182P	MECP2_ENST00000453960.2_Silent_p.P194P|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_Missense_Mutation_p.Q146R	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	182					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGTTCCTGGAGCTTTGG	0.602																																						ENST00000407218.1																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(436-438)cAg>cGg		methyl CpG binding protein 2 (Rett syndrome)							70.0	73.0	72.0					X																	153296733		2203	4300	6503	SO:0001819	synonymous_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296733T>C	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.546A>G	X.37:g.153296733T>C						MECP2_ENST00000303391.6_Silent_p.P182P|MECP2_ENST00000453960.2_Silent_p.P194P	p.Q146R			P51608	MECP2_HUMAN			5	622	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		63			MBD.		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.437A>G	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	T	1.360	-0.589114	0.03799	.	.	ENSG00000169057	ENST00000407218	D	0.96041	-3.89	5.48	4.24	0.50183	.	.	.	.	.	D	0.93723	0.7994	.	.	.	0.23227	N	0.998084	.	.	.	.	.	.	D	0.88694	0.3211	6	0.66056	D	0.02	-5.259	5.414	0.16363	0.1568:0.0:0.2805:0.5627	.	.	.	.	R	146	ENSP00000384865:Q146R	ENSP00000384865:Q146R	Q	-	2	0	MECP2	152949927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.807000	0.27140	1.829000	0.53265	0.486000	0.48141	CAG		0.602	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		5	213	0	0	0	1	0	5	213				
TGM5	9333	broad.mit.edu	37	15	43544969	43544969	+	Missense_Mutation	SNP	C	C	T	rs144575810		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:43544969C>T	ENST00000220420.5	-	6	857	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	TGM5_ENST00000349114.4_Missense_Mutation_p.V202I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	284					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGCACATGACGGCAGCAAAG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18492	0.0		0.001	False		,,,				2504	0.0					ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(850-852)Gtc>Atc		transglutaminase 5	L-Glutamine(DB00130)	C	ILE/VAL,ILE/VAL	0,4404		0,0,2202	71.0	71.0	71.0		604,850	2.8	0.8	15	dbSNP_134	71	11,8587	8.4+/-32.0	0,11,4288	yes	missense,missense	TGM5	NM_004245.3,NM_201631.3	29,29	0,11,6490	TT,TC,CC		0.1279,0.0,0.0846	benign,benign	202/639,284/721	43544969	11,12991	2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43544969C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.850G>A	15.37:g.43544969C>T	ENSP00000220420:p.Val284Ile					TGM5_ENST00000349114.4_Missense_Mutation_p.V202I	p.V284I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	857	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	284					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.850G>A	CCDS32212.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.54	3.413962	0.62511	0.0	0.001279	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.89552	-2.53;-2.53	4.88	2.8	0.32819	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.066395	0.64402	N	0.000015	D	0.89781	0.6814	M	0.84156	2.68	0.30747	N	0.745526	D;P	0.53745	0.962;0.689	P;B	0.47015	0.534;0.384	D	0.87466	0.2411	10	0.62326	D	0.03	-24.7397	9.5312	0.39196	0.0:0.8609:0.0:0.1391	.	202;284	O43548-2;O43548	.;TGM5_HUMAN	I	284;202;283	ENSP00000220420:V284I;ENSP00000220419:V202I	ENSP00000220420:V284I	V	-	1	0	TGM5	41332261	1.000000	0.71417	0.785000	0.31869	0.968000	0.65278	4.662000	0.61525	0.434000	0.26340	0.655000	0.94253	GTC		0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		102	2	0	0	0	1	0	102	2				
KIF4A	24137	broad.mit.edu	37	X	69607079	69607079	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:69607079C>T	ENST00000374403.3	+	20	2246	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	KIF4A_ENST00000374388.3_Missense_Mutation_p.R722W	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	722	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCAGAAACAACGGGAGGTTGC	0.438																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2164-2166)Cgg>Tgg		kinesin family member 4A							59.0	48.0	52.0					X																	69607079		2197	4293	6490	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69607079C>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2164C>T	X.37:g.69607079C>T	ENSP00000363524:p.Arg722Trp					KIF4A_ENST00000374388.3_Missense_Mutation_p.R722W	p.R722W	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			20	2246	+			722			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2164C>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522477	0.44866	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.70986	-0.53;-0.49	4.6	2.74	0.32292	.	0.581507	0.15606	N	0.253653	T	0.68265	0.2982	L	0.55481	1.735	0.22947	N	0.998528	D	0.63880	0.993	P	0.46208	0.507	T	0.60156	-0.7318	10	0.72032	D	0.01	.	10.8257	0.46631	0.5066:0.4934:0.0:0.0	.	722	O95239	KIF4A_HUMAN	W	722;722;24	ENSP00000363509:R722W;ENSP00000363524:R722W	ENSP00000363509:R722W	R	+	1	2	KIF4A	69523804	0.274000	0.24191	0.241000	0.24154	0.650000	0.38633	1.470000	0.35354	0.438000	0.26450	0.468000	0.43344	CGG		0.438	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		3	6	0	0	0	1	0	3	6				
WDHD1	11169	broad.mit.edu	37	14	55429738	55429738	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:55429738G>A	ENST00000360586.3	-	19	2528	c.2463C>T	c.(2461-2463)gcC>gcT	p.A821A	WDHD1_ENST00000420358.2_Silent_p.A698A|WDHD1_ENST00000359167.4_Silent_p.A339A|WDHD1_ENST00000421192.1_Silent_p.A698A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	821					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTGTCAATTCGGCTGCCTTCT	0.383																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(2461-2463)gcC>gcT		WD repeat and HMG-box DNA binding protein 1							57.0	57.0	57.0					14																	55429738		2203	4298	6501	SO:0001819	synonymous_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55429738G>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2463C>T	14.37:g.55429738G>A						WDHD1_ENST00000420358.2_Silent_p.A698A|WDHD1_ENST00000421192.1_Silent_p.A698A|WDHD1_ENST00000359167.4_Silent_p.A339A	p.A821A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			19	2528	-			821					C9JW18|F6W0U7	Silent	SNP	ENST00000360586.3	37	c.2463C>T	CCDS9721.1																																																																																				0.383	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		12	13	0	0	0	1	0	12	13				
DSC2	1824	broad.mit.edu	37	18	28651725	28651725	+	Silent	SNP	G	G	A	rs397517396		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:28651725G>A	ENST00000280904.6	-	13	2414	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	DSC2_ENST00000251081.6_Silent_p.G657G|snoU13_ENST00000459603.1_RNA	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	657	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CACTAGACATGCCAAGTCTAT	0.413																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1969-1971)ggC>ggT		desmocollin 2							129.0	103.0	112.0					18																	28651725		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28651725G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1971C>T	18.37:g.28651725G>A						DSC2_ENST00000251081.6_Silent_p.G657G	p.G657G	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		13	2414	-			657			Cadherin 5.			Silent	SNP	ENST00000280904.6	37	c.1971C>T	CCDS11892.1																																																																																				0.413	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		14	16	0	0	0	1	0	14	16				
ATL3	25923	broad.mit.edu	37	11	63438805	63438805	+	Start_Codon_SNP	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:63438805C>T	ENST00000398868.3	-	1	279	c.3G>A	c.(1-3)atG>atA	p.M1I	ATL3_ENST00000538786.1_Intron|ATL3_ENST00000332645.4_Missense_Mutation_p.M53I|ATL3_ENST00000535789.1_5'UTR	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	1					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GAGGGGACAACATGGAGCCTC	0.687																																						ENST00000332645.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(157-159)atG>atA		atlastin GTPase 3							16.0	23.0	21.0					11																	63438805		1945	4144	6089	SO:0001582	initiator_codon_variant	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63438805C>T		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.3G>A	11.37:g.63438805C>T	ENSP00000381844:p.Met1Ile					ATL3_ENST00000535789.1_5'UTR|ATL3_ENST00000538786.1_Intron|ATL3_ENST00000398868.3_Start_Codon_SNP_p.M1I	p.M53I			Q6DD88	ATLA3_HUMAN			2	158	-			1					Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.159G>A	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397919	0.62177	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000540699	T;T;T	0.79940	-1.14;-1.32;0.97	4.86	4.86	0.63082	.	0.482216	0.15800	N	0.244006	T	0.73806	0.3634	.	.	.	0.29961	N	0.81943	P;B	0.37573	0.6;0.015	B;B	0.36885	0.235;0.003	T	0.72350	-0.4320	9	0.37606	T	0.19	-10.3158	13.8418	0.63444	0.0:1.0:0.0:0.0	.	53;1	F5GWF8;Q6DD88	.;ATLA3_HUMAN	I	1;53;53	ENSP00000381844:M1I;ENSP00000329034:M53I;ENSP00000441842:M53I	ENSP00000329034:M53I	M	-	3	0	ATL3	63195381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.136000	0.42121	2.400000	0.81607	0.462000	0.41574	ATG		0.687	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	Missense_Mutation	3	17	0	0	0	1	0	3	17				
HELZ	9931	broad.mit.edu	37	17	65134211	65134211	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:65134211C>T	ENST00000358691.5	-	22	2955	c.2789G>A	c.(2788-2790)cGt>cAt	p.R930H	HELZ_ENST00000580168.1_Missense_Mutation_p.R931H	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	930						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTTCTACACGTTCCACCAC	0.368																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2788-2790)cGt>cAt		helicase with zinc finger							127.0	123.0	124.0					17																	65134211		2083	4218	6301	SO:0001583	missense	9931							g.chr17:65134211C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2789G>A	17.37:g.65134211C>T	ENSP00000351524:p.Arg930His					HELZ_ENST00000580168.1_Missense_Mutation_p.R931H	p.R930H	NM_014877.3	NP_055692.2					22	2955	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2789G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013139	0.54468	.	.	ENSG00000198265	ENST00000358691	D	0.92348	-3.02	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	L	0.28344	0.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	D	0.94607	0.7801	10	0.72032	D	0.01	-13.4607	18.8583	0.92262	0.0:1.0:0.0:0.0	.	931;930	B7ZLW2;P42694	.;HELZ_HUMAN	H	930	ENSP00000351524:R930H	ENSP00000351524:R930H	R	-	2	0	HELZ	62564673	1.000000	0.71417	0.977000	0.42913	0.963000	0.63663	7.487000	0.81328	2.437000	0.82529	0.655000	0.94253	CGT		0.368	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		48	2	0	0	0	1	0	48	2				
AIM1L	55057	broad.mit.edu	37	1	26669268	26669268	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:26669268C>T	ENST00000308182.5	-	4	475	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	AIM1L_ENST00000527815.1_Missense_Mutation_p.G187S			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	16							carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTTAGGGAGCCGATGCCTTGG	0.597																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(559-561)Ggc>Agc		absent in melanoma 1-like							214.0	197.0	203.0					1																	26669268		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26669268C>T			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.46G>A	1.37:g.26669268C>T	ENSP00000310435:p.Gly16Ser					AIM1L_ENST00000308182.5_Missense_Mutation_p.G16S	p.G187S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	4	608	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	16			Beta/gamma crystallin 'Greek key' 4.		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.559G>A		.	.	.	.	.	.	.	.	.	.	C	24.0	4.482924	0.84747	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.75477	-0.94;-0.82	5.43	5.43	0.79202	Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86274	0.1663	10	0.40728	T	0.16	.	18.8456	0.92205	0.0:1.0:0.0:0.0	.	16	Q8N1P7	AIM1L_HUMAN	S	187;16	ENSP00000433931:G187S;ENSP00000310435:G16S	ENSP00000310435:G16S	G	-	1	0	AIM1L	26541855	1.000000	0.71417	0.977000	0.42913	0.263000	0.26337	5.623000	0.67757	2.571000	0.86741	0.563000	0.77884	GGC		0.597	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		105	112	0	0	0	1	0	105	112				
PABPC3	5042	broad.mit.edu	37	13	25670421	25670421	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:25670421G>A	ENST00000281589.3	+	1	122	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	29	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATGCTCTACGAGAAGTTCAG	0.627																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(85-87)Gag>Aag		poly(A) binding protein, cytoplasmic 3							76.0	74.0	75.0					13																	25670421		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670421G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.85G>A	13.37:g.25670421G>A	ENSP00000281589:p.Glu29Lys						p.E29K	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	122	+		Lung SC(185;0.0225)|Breast(139;0.0602)	29			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.85G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515411	0.44763	.	.	ENSG00000151846	ENST00000281589	T	0.17528	2.27	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.38005	U	0.001843	T	0.13543	0.0328	L	0.42686	1.345	0.39859	D	0.973352	P	0.34837	0.472	B	0.36186	0.219	T	0.08638	-1.0712	10	0.87932	D	0	.	6.848	0.23998	1.0E-4:0.0:0.9999:0.0	.	29	Q9H361	PABP3_HUMAN	K	29	ENSP00000281589:E29K	ENSP00000281589:E29K	E	+	1	0	PABPC3	24568421	1.000000	0.71417	0.847000	0.33407	0.101000	0.19017	4.849000	0.62882	0.558000	0.29135	0.305000	0.20034	GAG		0.627	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		55	55	0	0	0	1	0	55	55				
SH3BP4	23677	broad.mit.edu	37	2	235950972	235950972	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:235950972C>T	ENST00000409212.1	+	4	2066	c.1559C>T	c.(1558-1560)gCc>gTc	p.A520V	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A520V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A520V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	520					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCCCCGGTGGCCCTGCAGCTG	0.567																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1558-1560)gCc>gTc		SH3-domain binding protein 4							60.0	63.0	62.0					2																	235950972		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950972C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1559C>T	2.37:g.235950972C>T	ENSP00000386862:p.Ala520Val					SH3BP4_ENST00000344528.4_Missense_Mutation_p.A520V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A520V	p.A520V			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2066	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	520					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1559C>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	0.768	-0.766909	0.02974	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.08370	3.1;3.1;3.1	4.99	4.99	0.66335	.	0.454423	0.24309	N	0.039642	T	0.05410	0.0143	N	0.12569	0.235	0.45183	D	0.998192	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.31336	-0.9947	10	0.08599	T	0.76	-22.0403	16.8316	0.85946	0.0:1.0:0.0:0.0	.	520;520	A8K594;Q9P0V3	.;SH3B4_HUMAN	V	520	ENSP00000375867:A520V;ENSP00000386862:A520V;ENSP00000340237:A520V	ENSP00000340237:A520V	A	+	2	0	SH3BP4	235615711	1.000000	0.71417	0.392000	0.26245	0.159000	0.22180	5.779000	0.68948	2.306000	0.77630	0.591000	0.81541	GCC		0.567	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			12	47	0	0	0	1	0	12	47				
ERMP1	79956	broad.mit.edu	37	9	5787228	5787228	+	Silent	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:5787228A>G	ENST00000339450.5	-	15	2720	c.2631T>C	c.(2629-2631)ccT>ccC	p.P877P	ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_3'UTR|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	877						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CATCCAGTTGAGGGGATCTCT	0.473																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(2629-2631)ccT>ccC		endoplasmic reticulum metallopeptidase 1							80.0	83.0	82.0					9																	5787228		2203	4300	6503	SO:0001819	synonymous_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5787228A>G	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2631T>C	9.37:g.5787228A>G						ERMP1_ENST00000543230.1_3'UTR|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR	p.P877P	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	15	2720	-		Acute lymphoblastic leukemia(23;0.158)	877					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	c.2631T>C	CCDS34983.1																																																																																				0.473	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		20	26	0	0	0	1	0	20	26				
MAPK8IP3	23162	broad.mit.edu	37	16	1817236	1817236	+	Missense_Mutation	SNP	C	C	T	rs201670194		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:1817236C>T	ENST00000250894.4	+	26	3329	c.3172C>T	c.(3172-3174)Cgc>Tgc	p.R1058C	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1052C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1058					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGTGTACGACCGCGTGTGGTG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18044	0.0		0.0	False		,,,				2504	0.0					ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3172-3174)Cgc>Tgc		mitogen-activated protein kinase 8 interacting protein 3		C	CYS/ARG,CYS/ARG	0,4306		0,0,2153	76.0	89.0	84.0		3154,3172	4.0	1.0	16		84	7,8509		0,7,4251	yes	missense,missense	MAPK8IP3	NM_001040439.1,NM_015133.3	180,180	0,7,6404	TT,TC,CC		0.0822,0.0,0.0546	probably-damaging,probably-damaging	1052/1331,1058/1337	1817236	7,12815	2153	4258	6411	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1817236C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3172C>T	16.37:g.1817236C>T	ENSP00000250894:p.Arg1058Cys					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1052C	p.R1058C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			26	3329	+			1058					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3172C>T	CCDS10442.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.85	3.711655	0.68730	0.0	8.22E-4	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.72835	-0.69;-0.69	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.061553	0.64402	D	0.000009	T	0.71056	0.3295	L	0.29908	0.895	0.80722	D	1	B;D;D	0.76494	0.159;0.997;0.999	B;P;P	0.58266	0.043;0.836;0.794	T	0.75079	-0.3444	10	0.87932	D	0	-15.1386	12.4581	0.55716	0.168:0.832:0.0:0.0	.	1059;1052;1058	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	C	1058;1052	ENSP00000250894:R1058C;ENSP00000348290:R1052C	ENSP00000250894:R1058C	R	+	1	0	MAPK8IP3	1757237	1.000000	0.71417	0.986000	0.45419	0.617000	0.37484	4.645000	0.61404	1.976000	0.57569	0.591000	0.81541	CGC		0.627	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		46	122	0	0	0	1	0	46	122				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	24	0	0	0	1	0	5	24				
TULP4	56995	broad.mit.edu	37	6	158900985	158900985	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:158900985C>T	ENST00000367097.3	+	7	2586	c.1229C>T	c.(1228-1230)aCt>aTt	p.T410I	TULP4_ENST00000367094.2_Missense_Mutation_p.T410I	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	410	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TACCTCTCCACTGCCTTCATC	0.637																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1228-1230)aCt>aTt		tubby like protein 4							78.0	77.0	77.0					6																	158900985		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158900985C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1229C>T	6.37:g.158900985C>T	ENSP00000356064:p.Thr410Ile					TULP4_ENST00000367094.2_Missense_Mutation_p.T410I	p.T410I	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	7	2586	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	410			SOCS box.		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1229C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037370	0.93630	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.62105	0.05;0.05	5.75	5.75	0.90469	Tumour necrosis factor-like (1);SOCS protein, C-terminal (2);	0.217536	0.48767	D	0.000170	T	0.49338	0.1551	N	0.19112	0.55	0.58432	D	0.999999	P;B;P	0.48162	0.491;0.302;0.906	B;B;P	0.49226	0.243;0.146;0.603	T	0.50499	-0.8821	10	0.40728	T	0.16	-8.8845	19.9493	0.97193	0.0:1.0:0.0:0.0	.	410;410;410	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	I	410	ENSP00000356064:T410I;ENSP00000356061:T410I	ENSP00000356061:T410I	T	+	2	0	TULP4	158820973	1.000000	0.71417	0.668000	0.29813	0.994000	0.84299	4.462000	0.60121	2.712000	0.92718	0.561000	0.74099	ACT		0.637	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		11	31	0	0	0	1	0	11	31				
ATAD3C	219293	broad.mit.edu	37	1	1391260	1391260	+	Silent	SNP	C	C	T	rs569952968		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:1391260C>T	ENST00000378785.2	+	6	1523	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	176							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCTGCTGTACGGGCCACCAG	0.627													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19249	0.0		0.0	False		,,,				2504	0.0					ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(526-528)taC>taT		ATPase family, AAA domain containing 3C							79.0	87.0	84.0					1																	1391260		692	1591	2283	SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1391260C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.528C>T	1.37:g.1391260C>T							p.Y176Y	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	6	1523	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	176					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.528C>T	CCDS44039.1																																																																																				0.627	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		19	31	0	0	0	1	0	19	31				
SSU72	29101	broad.mit.edu	37	1	1500071	1500071	+	Intron	SNP	C	C	T	rs538221515		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:1500071C>T	ENST00000291386.3	-	2	536				SSU72_ENST00000359060.4_Silent_p.A102A	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGGGTGACACGCCTCCTGTG	0.562																																						ENST00000359060.4																			0				large_intestine(2)|lung(5)	7						c.(304-306)gcG>gcA		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)																																				SO:0001627	intron_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1500071C>T	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.224+81G>A	1.37:g.1500071C>T						SSU72_ENST00000291386.3_Intron	p.A102A			Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	2	332	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	0					Q9BZS6|Q9H933	Silent	SNP	ENST00000291386.3	37	c.306G>A	CCDS32.1																																																																																				0.562	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		53	59	0	0	0	1	0	53	59				
CREBBP	1387	broad.mit.edu	37	16	3900479	3900479	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:3900479G>A	ENST00000262367.5	-	2	1426	c.617C>T	c.(616-618)gCg>gTg	p.A206V	CREBBP_ENST00000382070.3_Missense_Mutation_p.A206V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	206					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CATGACTTGCGCCTGCCCTTG	0.552			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(616-618)gCg>gTg		CREB binding protein							107.0	100.0	102.0					16																	3900479		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3900479G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.617C>T	16.37:g.3900479G>A	ENSP00000262367:p.Ala206Val					CREBBP_ENST00000382070.3_Missense_Mutation_p.A206V	p.A206V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	2	1426	-		Ovarian(90;0.0266)	206					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.617C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485260	0.63962	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83335	-1.71;-1.65	6.01	5.04	0.67666	.	0.068872	0.64402	D	0.000012	T	0.77980	0.4212	N	0.14661	0.345	0.40636	D	0.981902	D;D	0.64830	0.993;0.994	P;P	0.52424	0.698;0.448	T	0.80127	-0.1512	10	0.51188	T	0.08	-14.5801	13.4741	0.61297	0.0:0.3679:0.6321:0.0	.	274;206	Q4LE28;Q92793	.;CBP_HUMAN	V	206;274;206	ENSP00000262367:A206V;ENSP00000371502:A206V	ENSP00000262367:A206V	A	-	2	0	CREBBP	3840480	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.294000	0.51787	2.861000	0.98227	0.650000	0.86243	GCG		0.552	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		27	48	0	0	0	1	0	27	48				
DLST	1743	broad.mit.edu	37	14	75359578	75359578	+	Missense_Mutation	SNP	G	G	A	rs369541556		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:75359578G>A	ENST00000334220.4	+	8	545	c.484G>A	c.(484-486)Gca>Aca	p.A162T	DLST_ENST00000334212.6_Missense_Mutation_p.A76T|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	162					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TCCTGCTGCTGCAGCCCCAAA	0.572																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(484-486)Gca>Aca		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							61.0	61.0	61.0					14																	75359578		2203	4300	6503	SO:0001583	missense	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75359578G>A		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.484G>A	14.37:g.75359578G>A	ENSP00000335304:p.Ala162Thr					DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.A76T	p.A162T	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	8	545	+			162					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	c.484G>A	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	G	9.317	1.057144	0.19907	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	T;T;T	0.42900	0.96;0.96;0.96	4.42	0.296	0.15757	Single hybrid motif (1);	0.211412	0.49305	N	0.000143	T	0.24547	0.0595	L	0.29908	0.895	0.34898	D	0.746171	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.07083	-1.0791	10	0.39692	T	0.17	-40.2052	4.8191	0.13381	0.2596:0.289:0.4514:0.0	.	76;162;162;74;78	B7Z5W8;Q6IBS5;P36957;Q86TQ8;Q86TW7	.;.;ODO2_HUMAN;.;.	T	162;76;145	ENSP00000335304:A162T;ENSP00000335465:A76T;ENSP00000451957:A145T	ENSP00000238671:A145T	A	+	1	0	DLST	74429331	0.976000	0.34144	0.877000	0.34402	0.320000	0.28249	1.076000	0.30729	-0.041000	0.13558	0.555000	0.69702	GCA		0.572	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			26	39	0	0	0	1	0	26	39				
MT-ND2	4536	broad.mit.edu	37	M	2492	2492	+	5'Flank	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrM:2492G>A	ENST00000361453.3	+	0	0				MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						AAACCTTACCCCGCCTGTTTA	0.468																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2492G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2492G>A	Exception_encountered							NR_039705.1						0	822	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.468	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		15	12	0	0	0	1	0	15	12				
CHD1	1105	broad.mit.edu	37	5	98192247	98192247	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:98192247T>C	ENST00000284049.3	-	35	5119	c.4970A>G	c.(4969-4971)gAt>gGt	p.D1657G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1657					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATACCTATAATCCCTGGAAGA	0.458																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4969-4971)gAt>gGt		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						122.0	115.0	117.0					5																	98192247		2203	4299	6502	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192247T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4970A>G	5.37:g.98192247T>C	ENSP00000284049:p.Asp1657Gly						p.D1657G	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5119	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1657					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4970A>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	9.427	1.084487	0.20309	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.90563	-2.69	5.55	5.55	0.83447	.	0.000000	0.34555	U	0.003862	D	0.93588	0.7953	L	0.58101	1.795	0.54753	D	0.999984	D	0.63880	0.993	D	0.68192	0.956	D	0.92491	0.6000	10	0.31617	T	0.26	.	15.692	0.77461	0.0:0.0:0.0:1.0	.	1657	O14646	CHD1_HUMAN	G	247;1657	ENSP00000284049:D1657G	ENSP00000284049:D1657G	D	-	2	0	CHD1	98220147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.071000	0.71229	2.103000	0.63969	0.533000	0.62120	GAT		0.458	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		12	27	0	0	0	1	0	12	27				
DIS3	22894	broad.mit.edu	37	13	73346315	73346315	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:73346315G>A	ENST00000377767.4	-	10	1585	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	DIS3_ENST00000377780.4_Silent_p.L465L|DIS3_ENST00000545453.1_Silent_p.L333L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	495					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTCCATTTTCGAGTTCTCGAC	0.363										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1483-1485)ctC>ctT		DIS3 mitotic control homolog (S. cerevisiae)							97.0	97.0	97.0					13																	73346315		2203	4300	6503	SO:0001819	synonymous_variant	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73346315G>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1485C>T	13.37:g.73346315G>A		Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Silent_p.L333L|DIS3_ENST00000377780.4_Silent_p.L465L	p.L495L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	10	1585	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	495					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	c.1485C>T	CCDS9447.1																																																																																				0.363	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		19	20	0	0	0	1	0	19	20				
FCGBP	8857	broad.mit.edu	37	19	40368843	40368843	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:40368843C>T	ENST00000221347.6	-	28	12512	c.12505G>A	c.(12505-12507)Gtg>Atg	p.V4169M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4169	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGTCGGCCACGGAGACAGGC	0.617																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12505-12507)Gtg>Atg		Fc fragment of IgG binding protein							178.0	176.0	176.0					19																	40368843		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368843C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12505G>A	19.37:g.40368843C>T	ENSP00000221347:p.Val4169Met						p.V4169M	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12512	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4169			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12505G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550705	0.45383	.	.	ENSG00000090920	ENST00000221347	T	0.59364	0.27	3.92	-1.47	0.08772	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.47691	0.1459	M	0.68952	2.095	0.09310	N	1	B	0.31174	0.311	B	0.30855	0.121	T	0.38542	-0.9656	9	0.34782	T	0.22	.	3.7069	0.08404	0.5498:0.2309:0.1288:0.0906	.	4169	Q9Y6R7	FCGBP_HUMAN	M	4169	ENSP00000221347:V4169M	ENSP00000221347:V4169M	V	-	1	0	FCGBP	45060683	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.221000	0.09202	-0.231000	0.09825	0.305000	0.20034	GTG		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		28	320	0	0	0	1	0	28	320				
PTPN18	26469	broad.mit.edu	37	2	131116491	131116491	+	Missense_Mutation	SNP	G	G	A	rs11892325	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:131116491G>A	ENST00000175756.5	+	2	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	49	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		21497	0.0		0.0	False		,,,				2504	0.0					ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(145-147)Gtg>Atg		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)		G	,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86.0	86.0	86.0		,145	-0.5	0.0	2	dbSNP_120	86	0,8600		0,0,4300	yes	intron,missense	PTPN18	NM_001142370.1,NM_014369.3	,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,49/461	131116491	1,13005	2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116491G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.145G>A	2.37:g.131116491G>A	ENSP00000175756:p.Val49Met					PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	p.V49M	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			2	246	+	Colorectal(110;0.1)		49			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.145G>A	CCDS2161.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.769	0.925447	0.18056	2.27E-4	0.0	ENSG00000072135	ENST00000175756;ENST00000409022	T	0.11712	2.75	3.55	-0.508	0.11980	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.754568	0.10837	N	0.628625	T	0.06826	0.0174	L	0.31371	0.925	0.09310	N	1	B;B	0.25667	0.131;0.022	B;B	0.08055	0.003;0.001	T	0.32322	-0.9911	10	0.51188	T	0.08	.	5.2258	0.15393	0.3156:0.154:0.5304:0.0	rs11892325	49;49	E7EMB8;Q99952	.;PTN18_HUMAN	M	49	ENSP00000175756:V49M	ENSP00000175756:V49M	V	+	1	0	PTPN18	130832961	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.037000	0.13840	-0.379000	0.07906	-1.134000	0.01955	GTG		0.627	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			44	68	0	0	0	1	0	44	68				
STPG1	90529	broad.mit.edu	37	1	24727829	24727829	+	Missense_Mutation	SNP	C	C	T	rs533457586		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:24727829C>T	ENST00000374409.1	-	2	304	c.50G>A	c.(49-51)cGt>cAt	p.R17H	STPG1_ENST00000440416.1_Missense_Mutation_p.V10M|STPG1_ENST00000003583.8_Missense_Mutation_p.V10M|STPG1_ENST00000337248.4_Missense_Mutation_p.R17H|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	17					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTCACTGGCACGTCTGGGATG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		21449	0.0		0.0	False		,,,				2504	0.001					ENST00000374409.1																			0											c.(49-51)cGt>cAt		sperm-tail PG-rich repeat containing 1							200.0	164.0	176.0					1																	24727829		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24727829C>T	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.50G>A	1.37:g.24727829C>T	ENSP00000363530:p.Arg17His					STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.R17H|STPG1_ENST00000003583.8_Missense_Mutation_p.V10M|STPG1_ENST00000440416.1_Missense_Mutation_p.V10M	p.R17H	NM_001199012.1	NP_001185941.1					2	304	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.50G>A	CCDS55581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.52|10.52	1.374124|1.374124	0.24857|0.24857	.|.	.|.	ENSG00000001460|ENSG00000001460	ENST00000374409;ENST00000337248;ENST00000437986|ENST00000440416;ENST00000003583	.|.	.|.	.|.	3.58|3.58	-3.85|-3.85	0.04243|0.04243	.|.	2.738510|.	0.01307|.	N|.	0.010518|.	T|T	0.25457|0.25457	0.0619|0.0619	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.15473	0.0|0.013	B|B	0.01281|0.09377	0.0|0.004	T|T	0.25363|0.25363	-1.0134|-1.0134	8|7	0.20046|0.66056	T|D	0.44|0.02	-1.6872|-1.6872	3.382|3.382	0.07257|0.07257	0.3394:0.3844:0.0:0.2762|0.3394:0.3844:0.0:0.2762	.|.	17|10	Q5TH74|Q5TH74-3	CA201_HUMAN|.	H|M	17|10	.|.	ENSP00000337461:R17H|ENSP00000003583:V10M	R|V	-|-	2|1	0|0	C1orf201|C1orf201	24600416|24600416	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.034000|0.034000	0.12701|0.12701	-0.566000|-0.566000	0.05922|0.05922	-0.818000|-0.818000	0.04329|0.04329	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.418	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		3	21	0	0	0	1	0	3	21				
TMSB15B	286527	broad.mit.edu	37	X	103219162	103219162	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:103219162A>G	ENST00000436583.1	+	2	1710	c.67A>G	c.(67-69)Act>Gct	p.T23A	TMSB15B_ENST00000419165.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000569577.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000540220.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000567181.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000563257.1_Missense_Mutation_p.T23A			P0CG35	TB15B_HUMAN	thymosin beta 15B	23					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				skin(1)	1						GAAAACTAATACTGAAGAAAA	0.353																																						ENST00000567181.1																			0				skin(1)	1						c.(67-69)Act>Gct		thymosin beta 15B							112.0	91.0	97.0					X																	103219162		1568	3580	5148	SO:0001583	missense	286527				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrX:103219162A>G		CCDS59172.1	Xq22.2	2009-01-12			ENSG00000158427	ENSG00000158427			28612	protein-coding gene	gene with protein product						17567946	Standard	NM_194324		Approved	MGC39900	uc010noz.3	P0CG35	OTTHUMG00000022117	ENST00000436583.1:c.67A>G	X.37:g.103219162A>G	ENSP00000455771:p.Thr23Ala					TMSB15B_ENST00000569577.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000436583.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000563257.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000540220.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000419165.1_Missense_Mutation_p.T23A	p.T23A			P0CG34	TB15A_HUMAN			2	139	+			23					A8K614|Q99406	Missense_Mutation	SNP	ENST00000436583.1	37	c.67A>G	CCDS59172.1																																																																																				0.353	TMSB15B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057752.2	NM_194324		37	34	0	0	0	1	0	37	34				
FMN1	342184	broad.mit.edu	37	15	33261469	33261469	+	Silent	SNP	G	G	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:33261469G>T	ENST00000559047.1	-	5	2432	c.2433C>A	c.(2431-2433)acC>acA	p.T811T	FMN1_ENST00000334528.9_Silent_p.T588T|FMN1_ENST00000561249.1_Silent_p.T713T|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	811	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GCTTGAGGAAGGTCTCTCTGT	0.473																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1762-1764)acC>acA		formin 1							419.0	386.0	397.0					15																	33261469		2000	4170	6170	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261469G>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2433C>A	15.37:g.33261469G>T						FMN1_ENST00000559047.1_Silent_p.T811T|FMN1_ENST00000561249.1_Silent_p.T713T	p.T588T	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1763	-		all_lung(180;1.14e-07)	811			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.1764C>A																																																																																					0.473	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		5	190	1	0	0.000602214	1	0.000615979	5	190				
BAZ1B	9031	broad.mit.edu	37	7	72907249	72907249	+	Missense_Mutation	SNP	C	C	T	rs376917030		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:72907249C>T	ENST00000339594.4	-	5	912	c.574G>A	c.(574-576)Gac>Aac	p.D192N	BAZ1B_ENST00000404251.1_Missense_Mutation_p.D192N	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	192	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGTGCTCTGTCATCTAGTCAA	0.348																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(574-576)Gac>Aac		bromodomain adjacent to zinc finger domain, 1B		C	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	111.0	106.0	108.0		574	5.5	1.0	7		108	0,8600		0,0,4300	no	missense	BAZ1B	NM_032408.3	23	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	192/1484	72907249	1,13001	2201	4300	6501	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72907249C>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.574G>A	7.37:g.72907249C>T	ENSP00000342434:p.Asp192Asn					BAZ1B_ENST00000404251.1_Missense_Mutation_p.D192N	p.D192N	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			5	912	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	192			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.574G>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232486	0.95207	2.27E-4	0.0	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59906	0.23;0.23	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.63523	-0.6618	10	0.38643	T	0.18	-17.1046	17.9238	0.88976	0.0:1.0:0.0:0.0	.	192	Q9UIG0	BAZ1B_HUMAN	N	192	ENSP00000342434:D192N;ENSP00000385442:D192N	ENSP00000342434:D192N	D	-	1	0	BAZ1B	72545185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.896000	0.75665	2.572000	0.86782	0.585000	0.79938	GAC		0.348	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		23	10	0	0	0	1	0	23	10				
OBSCN	84033	broad.mit.edu	37	1	228547520	228547520	+	Intron	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:228547520G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Silent_p.E6309E|OBSCN_ENST00000366709.4_Silent_p.E3428E|OBSCN_ENST00000570156.2_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGAGGCCGAGGCCCACTCTC	0.682																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18925-18927)gaG>gaA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							14.0	17.0	16.0					1																	228547520		1989	4143	6132	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547520G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2757G>A	1.37:g.228547520G>A						OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.E3428E|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron	p.E6309E			Q5VST9	OBSCN_HUMAN			81	19001	+		Prostate(94;0.0405)	7132					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.18927G>A	CCDS58065.1																																																																																				0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	11	0	0	0	1	0	5	11				
KIAA0195	9772	broad.mit.edu	37	17	73492436	73492436	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:73492436G>A	ENST00000314256.7	+	24	3521	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1053T|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A694T|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1043						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCAGCATGGCCCAGGCCTC	0.617																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3127-3129)Gcc>Acc		KIAA0195							98.0	82.0	87.0					17																	73492436		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73492436G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3127G>A	17.37:g.73492436G>A	ENSP00000313885:p.Ala1043Thr					KIAA0195_ENST00000579208.1_Missense_Mutation_p.A694T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1053T	p.A1043T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		24	3521	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1043					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3127G>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656736	0.47467	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.43294	0.95;0.95	5.54	5.54	0.83059	ATPase, P-type,  transmembrane domain (1);	0.316231	0.34932	N	0.003569	T	0.13114	0.0318	N	0.01874	-0.695	0.32418	N	0.549776	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.003;0.001	T	0.33394	-0.9870	10	0.02654	T	1	-32.6406	5.6279	0.17492	0.1801:0.1689:0.6511:0.0	.	1053;1053;1043;1043	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	T	1043;1053	ENSP00000313885:A1043T;ENSP00000364397:A1053T	ENSP00000313885:A1043T	A	+	1	0	KIAA0195	71004031	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.019000	0.57181	2.768000	0.95171	0.561000	0.74099	GCC		0.617	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		15	131	0	0	0	1	0	15	131				
ZEB1	6935	broad.mit.edu	37	10	31815734	31815734	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:31815734G>A	ENST00000320985.10	+	9	3027	c.2917G>A	c.(2917-2919)Ggg>Agg	p.G973R	ZEB1_ENST00000542815.3_Missense_Mutation_p.G906R|ZEB1_ENST00000361642.5_Missense_Mutation_p.G974R|ZEB1_ENST00000446923.2_Missense_Mutation_p.G957R|ZEB1_ENST00000560721.2_Missense_Mutation_p.G953R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	973					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G973W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCACACTCTGGGTCTTATTC	0.443																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			1	Substitution - Missense(1)	p.G973W(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2869-2871)Ggg>Agg		zinc finger E-box binding homeobox 1							107.0	89.0	95.0					10																	31815734		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815734G>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2917G>A	10.37:g.31815734G>A	ENSP00000319248:p.Gly973Arg					ZEB1_ENST00000320985.10_Missense_Mutation_p.G973R|ZEB1_ENST00000560721.2_Missense_Mutation_p.G953R|ZEB1_ENST00000361642.5_Missense_Mutation_p.G974R|ZEB1_ENST00000542815.3_Missense_Mutation_p.G906R	p.G957R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3260	+		Prostate(175;0.0156)	973					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2869G>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130262	0.94473	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.469690	0.20160	N	0.097975	T	0.34861	0.0912	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.987;0.991;0.993;0.993	D;P;D;P;P	0.79108	0.992;0.784;0.917;0.784;0.784	T	0.08638	-1.0712	10	0.87932	D	0	-6.1338	18.4786	0.90802	0.0:0.0:1.0:0.0	.	906;957;953;974;973	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	R	755;973;974;968;906;973;953;864;957	ENSP00000444282:G755R;ENSP00000354487:G974R;ENSP00000444891:G906R;ENSP00000319248:G973R;ENSP00000391612:G957R	ENSP00000319248:G973R	G	+	1	0	ZEB1	31855740	1.000000	0.71417	0.856000	0.33681	0.921000	0.55340	9.869000	0.99810	2.379000	0.81126	0.650000	0.86243	GGG		0.443	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		32	0	0	0	0	1	0	32	0				
IFNLR1	163702	broad.mit.edu	37	1	24484264	24484264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:24484264G>A	ENST00000327535.1	-	7	931	c.919C>T	c.(919-921)Cga>Tga	p.R307*	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Nonsense_Mutation_p.R278*	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	307					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GCCCTGACTCGAGGCGTCGGC	0.577																																						ENST00000327535.1																			0											c.(919-921)Cga>Tga		interferon, lambda receptor 1							141.0	144.0	143.0					1																	24484264		2203	4300	6503	SO:0001587	stop_gained	163702							g.chr1:24484264G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.919C>T	1.37:g.24484264G>A	ENSP00000327824:p.Arg307*					IFNLR1_ENST00000374421.3_Nonsense_Mutation_p.R278*|IFNLR1_ENST00000327575.2_3'UTR	p.R307*	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					7	931	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Nonsense_Mutation	SNP	ENST00000327535.1	37	c.919C>T	CCDS248.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072482	0.36566	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	4.55	-9.11	0.00711	.	2.548230	0.01580	N	0.021030	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	7.5325	10.4791	0.44682	0.0:0.4726:0.3839:0.1435	.	.	.	.	X	307;278	.	ENSP00000327824:R307X	R	-	1	2	IL28RA	24356851	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-1.732000	0.01851	-2.011000	0.00952	-0.264000	0.10439	CGA		0.577	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		98	95	0	0	0	1	0	98	95				
HR	55806	broad.mit.edu	37	8	21986672	21986672	+	Silent	SNP	C	C	T	rs148136587		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:21986672C>T	ENST00000381418.4	-	2	1492	c.12G>A	c.(10-12)acG>acA	p.T4T	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Silent_p.T4T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	4					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGAAGCTGGGCGTACTCTCCA	0.632																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(10-12)acG>acA		hair growth associated							85.0	90.0	88.0					8																	21986672		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986672C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.12G>A	8.37:g.21986672C>T						HR_ENST00000312841.8_Silent_p.T4T	p.T4T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	1492	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	4					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.12G>A	CCDS6022.1																																																																																				0.632	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			48	62	0	0	0	1	0	48	62				
CLIC4	25932	broad.mit.edu	37	1	25140694	25140694	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:25140694G>A	ENST00000374379.4	+	3	489	c.292G>A	c.(292-294)Gtc>Atc	p.V98I	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	98	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TCTTGAAGAAGTCTTATGCCC	0.403																																						ENST00000374379.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(292-294)Gtc>Atc		chloride intracellular channel 4							81.0	86.0	85.0					1																	25140694		2203	4300	6503	SO:0001583	missense	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25140694G>A	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.292G>A	1.37:g.25140694G>A	ENSP00000363500:p.Val98Ile					CLIC4_ENST00000497755.1_3'UTR	p.V98I	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	3	489	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	98			Required for insertion into the membrane (Probable).		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	ENST00000374379.4	37	c.292G>A	CCDS256.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135165	0.56828	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.42513	0.97	5.85	5.85	0.93711	Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (2);	0.054502	0.64402	D	0.000001	T	0.36524	0.0970	L	0.33137	0.985	0.27145	N	0.961546	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.13282	-1.0515	10	0.33940	T	0.23	-14.6151	18.9445	0.92616	0.0:0.0:1.0:0.0	.	78;98	B3KTR3;Q9Y696	.;CLIC4_HUMAN	I	98	ENSP00000363500:V98I	ENSP00000363500:V98I	V	+	1	0	CLIC4	25013281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.771000	0.55318	2.768000	0.95171	0.655000	0.94253	GTC		0.403	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		46	32	0	0	0	1	0	46	32				
TADA1	117143	broad.mit.edu	37	1	166829507	166829507	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:166829507T>C	ENST00000367874.4	-	6	701	c.608A>G	c.(607-609)cAt>cGt	p.H203R	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	203					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						ATATTTAAAATGACCATCTCG	0.358																																						ENST00000367874.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						c.(607-609)cAt>cGt		transcriptional adaptor 1							130.0	114.0	120.0					1																	166829507		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166829507T>C	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.608A>G	1.37:g.166829507T>C	ENSP00000356848:p.His203Arg					TADA1_ENST00000467021.1_5'UTR	p.H203R	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN			6	701	-			203					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.608A>G	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	T	9.535	1.111974	0.20795	.	.	ENSG00000152382	ENST00000367874	T	0.41758	0.99	5.73	5.73	0.89815	.	0.048138	0.85682	D	0.000000	T	0.16514	0.0397	L	0.38175	1.15	0.45452	D	0.998420	B	0.09022	0.002	B	0.06405	0.002	T	0.07868	-1.0750	9	0.12430	T	0.62	-0.6623	13.9858	0.64334	0.0:0.0:0.0:1.0	.	203	Q96BN2	TADA1_HUMAN	R	203	ENSP00000356848:H203R	ENSP00000356848:H203R	H	-	2	0	TADA1	165096131	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	4.542000	0.60677	2.189000	0.69895	0.528000	0.53228	CAT		0.358	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		23	23	0	0	0	1	0	23	23				
AKAP13	11214	broad.mit.edu	37	15	86259071	86259071	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:86259071C>T	ENST00000394518.2	+	20	5747	c.5652C>T	c.(5650-5652)acC>acT	p.T1884T	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.T129T|AKAP13_ENST00000361243.2_Silent_p.T1888T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1884					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGGATGAAACCGCTACCACCC	0.517																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(5650-5652)acC>acT		A kinase (PRKA) anchor protein 13							154.0	121.0	133.0					15																	86259071		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86259071C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5652C>T	15.37:g.86259071C>T						AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.T1888T|AKAP13_ENST00000394510.2_Silent_p.T129T	p.T1884T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			20	5747	+			1884					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5652C>T	CCDS32319.1																																																																																				0.517	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		14	47	0	0	0	1	0	14	47				
TEKT4	150483	broad.mit.edu	37	2	95537621	95537621	+	Silent	SNP	C	C	T	rs566487874		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:95537621C>T	ENST00000295201.4	+	1	434	c.297C>T	c.(295-297)caC>caT	p.H99H	TEKT4_ENST00000427593.2_Silent_p.H99H|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	99					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGGACACGCACAGCTGGAAGT	0.687													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17334	0.0		0.0	False		,,,				2504	0.0					ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(295-297)caC>caT		tektin 4							15.0	14.0	15.0					2																	95537621		2192	4289	6481	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537621C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.297C>T	2.37:g.95537621C>T						AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.H99H	p.H99H	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	434	+			99						Silent	SNP	ENST00000295201.4	37	c.297C>T	CCDS2005.1																																																																																				0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		3	16	0	0	0	1	0	3	16				
PASK	23178	broad.mit.edu	37	2	242078093	242078093	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:242078093C>T	ENST00000405260.1	-	5	1415	c.717G>A	c.(715-717)tcG>tcA	p.S239S	PASK_ENST00000234040.4_Silent_p.S239S|PASK_ENST00000358649.4_Silent_p.S239S|PASK_ENST00000544142.1_Silent_p.S53S|PASK_ENST00000539818.1_Silent_p.S23S|PASK_ENST00000403638.3_Silent_p.S239S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	239					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGACCCAGGTCGAGACCCTCT	0.602																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(715-717)tcG>tcA		PAS domain containing serine/threonine kinase							100.0	88.0	92.0					2																	242078093		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242078093C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.717G>A	2.37:g.242078093C>T						PASK_ENST00000539818.1_Silent_p.S23S|PASK_ENST00000405260.1_Silent_p.S239S|PASK_ENST00000544142.1_Silent_p.S53S|PASK_ENST00000234040.4_Silent_p.S239S|PASK_ENST00000358649.4_Silent_p.S239S	p.S239S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	5	808	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	239					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.717G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	2.960	-0.214868	0.06101	.	.	ENSG00000115687	ENST00000433589	.	.	.	4.65	-9.29	0.00653	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.44221	D	0.997051	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	1.5242	0.02522	0.3861:0.1697:0.0843:0.3599	.	.	.	.	Q	54	.	.	R	-	2	0	PASK	241726766	0.000000	0.05858	0.677000	0.29947	0.158000	0.22134	-4.584000	0.00212	-2.296000	0.00662	-1.564000	0.00881	CGA		0.602	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		32	50	0	0	0	1	0	32	50				
MYO7A	4647	broad.mit.edu	37	11	76877132	76877132	+	Missense_Mutation	SNP	A	A	G	rs397516287		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:76877132A>G	ENST00000409709.3	+	15	1993	c.1721A>G	c.(1720-1722)cAt>cGt	p.H574R	MYO7A_ENST00000409619.2_Missense_Mutation_p.H563R|MYO7A_ENST00000458637.2_Missense_Mutation_p.H574R|MYO7A_ENST00000409893.1_Missense_Mutation_p.H574R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	574	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACACCCTGCATGGGGACATT	0.562																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1720-1722)cAt>cGt		myosin VIIA							66.0	68.0	67.0					11																	76877132		2013	4172	6185	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76877132A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1721A>G	11.37:g.76877132A>G	ENSP00000386331:p.His574Arg					MYO7A_ENST00000458637.2_Missense_Mutation_p.H574R|MYO7A_ENST00000409893.1_Missense_Mutation_p.H574R|MYO7A_ENST00000409619.2_Missense_Mutation_p.H563R	p.H574R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			15	1993	+			574			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1721A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969016	0.74131	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.53	5.53	0.82687	Myosin head, motor domain (2);	0.067131	0.64402	D	0.000009	D	0.88273	0.6392	L	0.31578	0.945	0.58432	D	0.99999	P;P;P	0.50272	0.933;0.584;0.484	P;B;B	0.57720	0.826;0.34;0.403	D	0.89623	0.3850	10	0.66056	D	0.02	.	15.9478	0.79806	1.0:0.0:0.0:0.0	.	574;574;574	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	574;574;574;563;573;573;450;573	ENSP00000386331:H574R;ENSP00000386689:H574R;ENSP00000392185:H574R;ENSP00000386635:H563R	ENSP00000345075:H450R	H	+	2	0	MYO7A	76554780	0.961000	0.32948	0.993000	0.49108	0.981000	0.71138	5.301000	0.65727	2.220000	0.72140	0.533000	0.62120	CAT		0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		10	33	0	0	0	1	0	10	33				
NEUROD1	4760	broad.mit.edu	37	2	182543459	182543459	+	Silent	SNP	G	G	A	rs116321775	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:182543459G>A	ENST00000295108.3	-	2	586	c.129C>T	c.(127-129)ctC>ctT	p.L43L	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	43					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCATGGTTTCGAGGTCGTCCT	0.582																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(127-129)ctC>ctT		neuronal differentiation 1							122.0	95.0	104.0					2																	182543459		2203	4300	6503	SO:0001819	synonymous_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543459G>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.129C>T	2.37:g.182543459G>A						NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.L43L	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	586	-			43					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	ENST00000295108.3	37	c.129C>T	CCDS2283.1																																																																																				0.582	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		28	15	0	0	0	1	0	28	15				
CACNA1H	8912	broad.mit.edu	37	16	1270130	1270130	+	Silent	SNP	C	C	T	rs375020212		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:1270130C>T	ENST00000348261.5	+	35	6446	c.6198C>T	c.(6196-6198)agC>agT	p.S2066S	CACNA1H_ENST00000565831.1_Silent_p.S2060S|CACNA1H_ENST00000358590.4_Silent_p.S2060S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2066					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGCCCGCCAGCGTCCGCACTC	0.721																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6196-6198)agC>agT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)	C	,	4,3930		0,4,1963	12.0	16.0	15.0		6180,6198	-1.4	0.0	16		15	1,8253		0,1,4126	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,5,6089	TT,TC,CC		0.0121,0.1017,0.041	,	2060/2348,2066/2354	1270130	5,12183	1967	4127	6094	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270130C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6198C>T	16.37:g.1270130C>T						CACNA1H_ENST00000358590.4_Silent_p.S2060S|CACNA1H_ENST00000565831.1_Silent_p.S2060S	p.S2066S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			35	6446	+		Hepatocellular(780;0.00369)	2066					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.6198C>T	CCDS45375.1																																																																																				0.721	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		16	4	0	0	0	1	0	16	4				
LRRC7	57554	broad.mit.edu	37	1	70225900	70225900	+	Missense_Mutation	SNP	C	C	T	rs150507629		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:70225900C>T	ENST00000035383.5	+	1	43	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	LRRC7_ENST00000310961.5_Missense_Mutation_p.R10W|LRRC7_ENST00000370958.1_Missense_Mutation_p.R43W|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	5						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R5W(2)|p.R43W(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GACCACCAAACGGAAAATCAT	0.458																																						ENST00000310961.5																			3	Substitution - Missense(3)	p.R5W(2)|p.R43W(1)	lung(2)|large_intestine(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(28-30)Cgg>Tgg		leucine rich repeat containing 7		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	38.0	39.0	39.0		13	4.8	1.0	1	dbSNP_134	39	0,8596		0,0,4298	no	missense	LRRC7	NM_020794.2	101	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	5/1538	70225900	1,13001	2203	4298	6501	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70225900C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.13C>T	1.37:g.70225900C>T	ENSP00000035383:p.Arg5Trp					LRRC7_ENST00000370958.1_Missense_Mutation_p.R43W|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.R5W	p.R10W			Q96NW7	LRRC7_HUMAN			4	446	+			5					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.28C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027422	0.75390	2.27E-4	0.0	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.48522	0.95;1.05;0.81	5.77	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50684	-0.8799	10	0.87932	D	0	.	12.9121	0.58184	0.3236:0.6764:0.0:0.0	.	5;43	Q96NW7;B1AKT2	LRRC7_HUMAN;.	W	10;43;5;5	ENSP00000309245:R10W;ENSP00000359997:R43W;ENSP00000035383:R5W	ENSP00000035383:R5W	R	+	1	2	LRRC7	69998488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.075000	0.41538	2.729000	0.93468	0.557000	0.71058	CGG		0.458	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		21	20	0	0	0	1	0	21	20				
NUDCD3	23386	broad.mit.edu	37	7	44530146	44530146	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:44530146C>T	ENST00000355451.7	-	1	333	c.54G>A	c.(52-54)caG>caA	p.Q18Q		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	18										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TGCCCACGTGCTGCAGGATGC	0.622																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(52-54)caG>caA		NudC domain containing 3							26.0	34.0	31.0					7																	44530146		2101	4242	6343	SO:0001819	synonymous_variant	23386							g.chr7:44530146C>T	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.54G>A	7.37:g.44530146C>T							p.Q18Q	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN			1	333	-			18					Q9BTI3|Q9H7W9|Q9UPT4	Silent	SNP	ENST00000355451.7	37	c.54G>A	CCDS5490.2																																																																																				0.622	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		15	6	0	0	0	1	0	15	6				
TCTN1	79600	broad.mit.edu	37	12	111064170	111064170	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:111064170C>T	ENST00000551590.1	+	3	501	c.345C>T	c.(343-345)ggC>ggT	p.G115G	TCTN1_ENST00000471804.2_Silent_p.G115G|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000397659.4_Silent_p.G115G|TCTN1_ENST00000550703.2_Silent_p.G115G|RN7SL387P_ENST00000581015.1_RNA|TCTN1_ENST00000397655.3_Silent_p.G115G|TCTN1_ENST00000377654.3_5'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	115					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ttttCAGGGGCGACAGCCAGT	0.318																																						ENST00000551590.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						c.(343-345)ggC>ggT		tectonic family member 1							43.0	39.0	40.0					12																	111064170		1771	4036	5807	SO:0001819	synonymous_variant	79600				multicellular organismal development	extracellular region		g.chr12:111064170C>T	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.345C>T	12.37:g.111064170C>T						TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000471804.2_Silent_p.G115G|TCTN1_ENST00000397659.4_Silent_p.G115G|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000550703.2_Silent_p.G115G|TCTN1_ENST00000397655.3_Silent_p.G115G	p.G115G			Q2MV58	TECT1_HUMAN			3	501	+			115					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Silent	SNP	ENST00000551590.1	37	c.345C>T	CCDS41835.1																																																																																				0.318	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		5	1	0	0	0	1	0	5	1				
NUP205	23165	broad.mit.edu	37	7	135304341	135304341	+	Silent	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:135304341T>C	ENST00000285968.6	+	29	4160	c.4134T>C	c.(4132-4134)ccT>ccC	p.P1378P		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1378					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCACCTCACCTCCTCCTGAAG	0.438																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4132-4134)ccT>ccC		nucleoporin 205kDa							83.0	76.0	79.0					7																	135304341		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135304341T>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4134T>C	7.37:g.135304341T>C							p.P1378P	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			29	4160	+			1378					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.4134T>C	CCDS34759.1																																																																																				0.438	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			7	51	0	0	0	1	0	7	51				
MAGI1	9223	broad.mit.edu	37	3	65342632	65342632	+	Silent	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:65342632T>C	ENST00000402939.2	-	23	3809	c.3810A>G	c.(3808-3810)agA>agG	p.R1270R	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1299					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGCTATACTCTCTGCTGCCTT	0.587																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3808-3810)agA>agG		membrane associated guanylate kinase, WW and PDZ domain containing 1							161.0	150.0	154.0					3																	65342632		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342632T>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3810A>G	3.37:g.65342632T>C						MAGI1_ENST00000330909.8_3'UTR	p.R1270R	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	3809	-		Lung NSC(201;0.0016)	1299					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000402939.2	37	c.3810A>G	CCDS33780.1																																																																																				0.587	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		31	83	0	0	0	1	0	31	83				
MT-ND5	4540	broad.mit.edu	37	M	13177	13177	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrM:13177G>A	ENST00000361567.2	+	1	841	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	281					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CACTATGCTTAGGCGCTATCA	0.448																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(841-843)Ggc>Agc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13177G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.841G>A	M.37:g.13177G>A	ENSP00000354813:p.Gly281Ser						p.G281S			P03915	NU5M_HUMAN			1	841	+			281					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.841G>A																																																																																					0.448	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		14	32	0	0	0	1	0	14	32				
JADE3	9767	broad.mit.edu	37	X	46913859	46913859	+	Silent	SNP	G	G	A	rs140782937	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:46913859G>A	ENST00000218343.4	+	9	1570	c.1272G>A	c.(1270-1272)acG>acA	p.T424T	PHF16_ENST00000397189.1_Silent_p.T424T	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GTATGCCCACGCTAGCTGTGG	0.493													g|||	2	0.000529801	0.0015	0.0	3775	,	,		13797	0.0		0.0	False		,,,				2504	0.0					ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(1270-1272)acG>acA				G	,	5,3830		0,5,1627,571	59.0	58.0	58.0		1272,1272	-10.3	0.0	X	dbSNP_134	58	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	PHF16	NM_001077445.1,NM_014735.3	,	0,5,4055,2443	AA,AG,GG,G		0.0,0.1304,0.0473	,	424/824,424/824	46913859	5,10558	2203	4300	6503	SO:0001819	synonymous_variant	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913859G>A																												ENST00000218343.4:c.1272G>A	X.37:g.46913859G>A						PHF16_ENST00000397189.1_Silent_p.T424T	p.T424T	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			9	1570	+			424						Silent	SNP	ENST00000218343.4	37	c.1272G>A	CCDS14271.1																																																																																				0.493	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			15	68	0	0	0	1	0	15	68				
EFCAB12	90288	broad.mit.edu	37	3	129127605	129127605	+	Missense_Mutation	SNP	C	C	T	rs191216867		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:129127605C>T	ENST00000505956.1	-	6	1294	c.1132G>A	c.(1132-1134)Ggg>Agg	p.G378R	EFCAB12_ENST00000326085.3_Missense_Mutation_p.G378R	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	378							calcium ion binding (GO:0005509)										CTCATATCCCCGTGGATGGTG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19951	0.0		0.001	False		,,,				2504	0.0					ENST00000505956.1																			0											c.(1132-1134)Ggg>Agg		EF-hand calcium binding domain 12		C	ARG/GLY	1,4143		0,1,2071	49.0	51.0	50.0		1132	5.1	0.1	3		50	2,8412		0,2,4205	no	missense	C3orf25	NM_207307.1	125	0,3,6276	TT,TC,CC		0.0238,0.0241,0.0239	probably-damaging	378/573	129127605	3,12555	2072	4207	6279	SO:0001583	missense	90288							g.chr3:129127605C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1132G>A	3.37:g.129127605C>T	ENSP00000420854:p.Gly378Arg					EFCAB12_ENST00000326085.3_Missense_Mutation_p.G378R	p.G378R	NM_207307.1	NP_997190.1					6	1294	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.1132G>A	CCDS54638.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.78	3.892012	0.72524	2.41E-4	2.38E-4	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.03330	3.97;3.97	5.14	5.14	0.70334	.	0.117864	0.38272	N	0.001743	T	0.11367	0.0277	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03287	-1.1052	10	0.72032	D	0.01	-44.8011	15.5161	0.75826	0.0:1.0:0.0:0.0	.	378	Q6NXP0	CC025_HUMAN	R	378	ENSP00000420854:G378R;ENSP00000324241:G378R	ENSP00000324241:G378R	G	-	1	0	C3orf25	130610295	0.006000	0.16342	0.105000	0.21289	0.102000	0.19082	1.833000	0.39161	2.389000	0.81357	0.655000	0.94253	GGG		0.582	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		3	11	0	0	0	1	0	3	11				
ALPK2	115701	broad.mit.edu	37	18	56274661	56274661	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:56274661C>T	ENST00000361673.3	-	3	333	c.120G>A	c.(118-120)aaG>aaA	p.K40K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	40	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACCTCTGGCTTGGGCTGAC	0.348																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(118-120)aaG>aaA		alpha-kinase 2							63.0	59.0	60.0					18																	56274661		1866	4103	5969	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274661C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.120G>A	18.37:g.56274661C>T							p.K40K	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			3	333	-			40			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.120G>A	CCDS11966.2																																																																																				0.348	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		16	18	0	0	0	1	0	16	18				
CDHR5	53841	broad.mit.edu	37	11	619490	619490	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:619490C>A	ENST00000358353.3	-	12	1599	c.1277G>T	c.(1276-1278)gGa>gTa	p.G426V	CDHR5_ENST00000349570.7_Missense_Mutation_p.G426V|CDHR5_ENST00000397542.2_Missense_Mutation_p.G426V			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTAGAAGGCTCCCGCCTGTGC	0.607																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1276-1278)gGa>gTa		cadherin-related family member 5							115.0	109.0	111.0					11																	619490		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:619490C>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1277G>T	11.37:g.619490C>A	ENSP00000351118:p.Gly426Val					CDHR5_ENST00000397542.2_Missense_Mutation_p.G426V|CDHR5_ENST00000349570.7_Missense_Mutation_p.G426V	p.G426V			Q9HBB8	CDHR5_HUMAN			12	1599	-			426			Cadherin 4.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1277G>T	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602303	0.46423	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	T;T;T	0.16743	2.32;2.32;2.32	3.52	-0.79	0.10932	Cadherin (2);	.	.	.	.	T	0.18882	0.0453	L	0.29908	0.895	0.09310	N	1	P;D;P;D;D	0.63880	0.688;0.993;0.902;0.986;0.986	B;P;P;P;P	0.61533	0.167;0.89;0.605;0.76;0.812	T	0.19910	-1.0291	9	0.27082	T	0.32	-3.3633	4.2017	0.10469	0.0:0.3318:0.42:0.2482	.	426;426;419;426;426	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	V	426	ENSP00000380676:G426V;ENSP00000351118:G426V;ENSP00000345726:G426V	ENSP00000326527:G426V	G	-	2	0	CDHR5	609490	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.133000	0.03232	-0.009000	0.14296	0.462000	0.41574	GGA		0.607	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		45	2	1	0	6.18754e-15	1	6.67211e-15	45	2				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	31	0	0	0	1	0	4	31				
RB1	5925	broad.mit.edu	37	13	48953760	48953760	+	Nonsense_Mutation	SNP	C	C	T	rs121913302		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:48953760C>T	ENST00000267163.4	+	14	1501	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	455	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R455*(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTTGTATTACCGAGTAATGGA	0.358		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		30	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(7)	p.0?(15)|p.?(8)|p.R455*(7)	bone(11)|breast(5)|eye(4)|central_nervous_system(3)|skin(3)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM961228	RB1	M	rs121913302	c.(1363-1365)Cga>Tga		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						22.0	22.0	22.0					13																	48953760		2202	4300	6502	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953760C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1363C>T	13.37:g.48953760C>T	ENSP00000267163:p.Arg455*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R455*	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1501	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	455			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1363C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.414248	0.98269	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.81	0.61882	.	0.058073	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4293	0.61044	0.2356:0.7644:0.0:0.0	.	.	.	.	X	434;455	.	ENSP00000267163:R455X	R	+	1	2	RB1	47851761	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.765000	0.62271	2.707000	0.92482	0.557000	0.71058	CGA		0.358	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			2	0	0	0	0	1	0	2	0				
NYNRIN	57523	broad.mit.edu	37	14	24885925	24885925	+	Missense_Mutation	SNP	C	C	T	rs201409522		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:24885925C>T	ENST00000382554.3	+	9	5288	c.4970C>T	c.(4969-4971)aCg>aTg	p.T1657M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1657	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TACACACACACGGCTGTGGCC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19176	0.001		0.0	False		,,,				2504	0.0					ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4969-4971)aCg>aTg		NYN domain and retroviral integrase containing		C	MET/THR	0,4098		0,0,2049	42.0	47.0	45.0		4970	-10.7	0.1	14		45	3,8345		0,3,4171	yes	missense	NYNRIN	NM_025081.2	81	0,3,6220	TT,TC,CC		0.0359,0.0,0.0241	benign	1657/1899	24885925	3,12443	2049	4174	6223	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885925C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4970C>T	14.37:g.24885925C>T	ENSP00000371994:p.Thr1657Met						p.T1657M	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5288	+			1657			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.4970C>T	CCDS45090.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.720	-0.783782	0.02907	0.0	3.59E-4	ENSG00000205978	ENST00000382554	T	0.43294	0.95	5.39	-10.7	0.00240	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.19287	0.0463	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20207	-1.0282	9	0.22706	T	0.39	.	10.6597	0.45696	0.1599:0.0908:0.0:0.7492	.	1657	Q9P2P1	NYNRI_HUMAN	M	1657	ENSP00000371994:T1657M	ENSP00000371994:T1657M	T	+	2	0	NYNRIN	23955765	0.000000	0.05858	0.094000	0.20943	0.921000	0.55340	-0.953000	0.03877	-2.225000	0.00724	-0.894000	0.02916	ACG		0.602	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			22	22	0	0	0	1	0	22	22				
AIP	9049	broad.mit.edu	37	11	67254583	67254583	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:67254583A>G	ENST00000279146.3	+	2	324	c.206A>G	c.(205-207)aAg>aGg	p.K69R		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	69	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AAGAAGTTCAAGCTGCCTGTG	0.592									Familial Isolated Pituitary Adenoma																													ENST00000279146.3																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(205-207)aAg>aGg		aryl hydrocarbon receptor interacting protein							234.0	196.0	209.0					11																	67254583		2200	4295	6495	SO:0001583	missense	9049	Familial Isolated Pituitary Adenoma	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	g.chr11:67254583A>G	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.206A>G	11.37:g.67254583A>G	ENSP00000279146:p.Lys69Arg						p.K69R	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN			2	324	+			69			PPIase FKBP-type.		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	ENST00000279146.3	37	c.206A>G	CCDS8168.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829208	0.90955	.	.	ENSG00000110711	ENST00000528641;ENST00000279146;ENST00000529797	D;D;D	0.86230	-2.09;-2.09;-2.09	5.16	4.04	0.47022	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.052146	0.85682	D	0.000000	D	0.91050	0.7184	M	0.67700	2.07	0.58432	D	0.999999	D	0.69078	0.997	D	0.70016	0.967	D	0.90059	0.4155	10	0.59425	D	0.04	-35.2488	9.4273	0.38588	0.9147:0.0:0.0853:0.0	.	69	O00170	AIP_HUMAN	R	69	ENSP00000434982:K69R;ENSP00000279146:K69R;ENSP00000434580:K69R	ENSP00000279146:K69R	K	+	2	0	AIP	67011159	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.708000	0.91372	0.822000	0.34565	0.402000	0.26972	AAG		0.592	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1			70	102	0	0	0	1	0	70	102				
SORCS2	57537	broad.mit.edu	37	4	7725501	7725501	+	Silent	SNP	C	C	T	rs566460730	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:7725501C>T	ENST00000507866.2	+	19	2611	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	SORCS2_ENST00000329016.9_Silent_p.T662T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	834	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTACACTGACCGGGGAGCCCA	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		17345	0.001		0.001	False		,,,				2504	0.0					ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2500-2502)acC>acT		sortilin-related VPS10 domain containing receptor 2							129.0	131.0	130.0					4																	7725501		2078	4198	6276	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725501C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2502C>T	4.37:g.7725501C>T						SORCS2_ENST00000329016.9_Silent_p.T662T	p.T834T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			19	2611	+			834			PKD.		Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.2502C>T	CCDS47008.1																																																																																				0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		32	4	0	0	0	1	0	32	4				
METTL14	57721	broad.mit.edu	37	4	119621741	119621741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:119621741C>T	ENST00000388822.5	+	8	849	c.682C>T	c.(682-684)Cga>Tga	p.R228*	METTL14_ENST00000506780.1_Nonsense_Mutation_p.R190*			Q9HCE5	MET14_HUMAN	methyltransferase like 14	228					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGCAGCACCTCGATCATTTAT	0.338																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(682-684)Cga>Tga		methyltransferase like 14							150.0	147.0	148.0					4																	119621741		2203	4300	6503	SO:0001587	stop_gained	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119621741C>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.682C>T	4.37:g.119621741C>T	ENSP00000373474:p.Arg228*					METTL14_ENST00000506780.1_Nonsense_Mutation_p.R190*	p.R228*			Q9HCE5	MTL14_HUMAN			8	849	+			228					A6NIG1|Q969V2	Nonsense_Mutation	SNP	ENST00000388822.5	37	c.682C>T	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	c	36	5.773911	0.96922	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	4.27	3.34	0.38264	.	0.055407	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6501	11.7375	0.51773	0.3178:0.6822:0.0:0.0	.	.	.	.	X	228;190	.	ENSP00000373474:R228X	R	+	1	2	METTL14	119841189	0.987000	0.35691	0.995000	0.50966	0.994000	0.84299	2.448000	0.44926	2.117000	0.64856	0.467000	0.42956	CGA		0.338	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		24	31	0	0	0	1	0	24	31				
F8	2157	broad.mit.edu	37	X	154157053	154157053	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:154157053C>T	ENST00000360256.4	-	14	5212	c.5012G>A	c.(5011-5013)cGt>cAt	p.R1671H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1671					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGAGTAGTACGAGTTATTTC	0.408																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM082643	F8	M		c.(5011-5013)cGt>cAt		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						149.0	124.0	132.0					X																	154157053		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157053C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5012G>A	X.37:g.154157053C>T	ENSP00000353393:p.Arg1671His						p.R1671H	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	5212	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1671					Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5012G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	2.410	-0.335605	0.05278	.	.	ENSG00000185010	ENST00000360256	D	0.99080	-5.4	4.87	-6.4	0.01944	.	1.660320	0.03312	N	0.190667	D	0.93654	0.7973	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.06405	0.002	D	0.94028	0.7298	10	0.14252	T	0.57	2.7775	3.9394	0.09319	0.297:0.1225:0.4588:0.1217	.	1671	P00451	FA8_HUMAN	H	1671	ENSP00000353393:R1671H	ENSP00000353393:R1671H	R	-	2	0	F8	153810247	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.147000	0.16202	-1.456000	0.01921	-1.672000	0.00744	CGT		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			42	43	0	0	0	1	0	42	43				
AKAP13	11214	broad.mit.edu	37	15	86122535	86122535	+	Silent	SNP	G	G	A	rs140888795	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:86122535G>A	ENST00000394518.2	+	7	1331	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.T412T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	412					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TAAAGGGCACGGAAGGCCTTT	0.512																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(1234-1236)acG>acA		A kinase (PRKA) anchor protein 13		G	,	0,4404		0,0,2202	73.0	80.0	78.0		1236,1236	-5.4	0.0	15	dbSNP_134	78	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous,coding-synonymous	AKAP13	NM_006738.4,NM_007200.3	,	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	,	412/2818,412/2814	86122535	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86122535G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1236G>A	15.37:g.86122535G>A						RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.T412T	p.T412T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	1331	+			412					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.1236G>A	CCDS32319.1																																																																																				0.512	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		42	44	0	0	0	1	0	42	44				
SLC24A2	25769	broad.mit.edu	37	9	19786016	19786016	+	Silent	SNP	G	G	A	rs570505431		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:19786016G>A	ENST00000341998.2	-	1	910	c.849C>T	c.(847-849)aaC>aaT	p.N283N	SLC24A2_ENST00000286344.3_Silent_p.N283N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	283					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTACTTGGACGTTGAATTTCA	0.408													G|||	0	0.0	0.0	0.0	5008	,	,		21640	0.0		0.0	False		,,,				2504	0.0					ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(847-849)aaC>aaT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							146.0	139.0	142.0					9																	19786016		2203	4300	6503	SO:0001819	synonymous_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786016G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.849C>T	9.37:g.19786016G>A						SLC24A2_ENST00000286344.3_Silent_p.N283N	p.N283N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	910	-			283					B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	ENST00000341998.2	37	c.849C>T	CCDS6493.1																																																																																				0.408	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		37	54	0	0	0	1	0	37	54				
ZNF574	64763	broad.mit.edu	37	19	42584536	42584536	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:42584536G>A	ENST00000600245.1	+	2	2433	c.1778G>A	c.(1777-1779)cGc>cAc	p.R593H	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R683H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R593H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGTCCTTACCGCCTGCTCATG	0.612																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1777-1779)cGc>cAc		zinc finger protein 574							88.0	76.0	80.0					19																	42584536		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584536G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1778G>A	19.37:g.42584536G>A	ENSP00000469029:p.Arg593His					ZNF574_ENST00000222339.7_Missense_Mutation_p.R683H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R593H	p.R593H			Q6ZN55	ZN574_HUMAN			2	2433	+		Prostate(69;0.059)	593					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1778G>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189408	0.57909	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.14391	2.51;2.51	5.42	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.071450	0.53938	D	0.000050	T	0.04452	0.0122	N	0.00960	-1.095	0.40501	D	0.980648	B;B	0.25007	0.028;0.116	B;B	0.16722	0.006;0.016	T	0.40459	-0.9562	10	0.16896	T	0.51	-26.6503	13.0591	0.58997	0.0791:0.0:0.9209:0.0	.	593;682	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	H	683;593;200	ENSP00000222339:R683H;ENSP00000351939:R593H	ENSP00000222339:R683H	R	+	2	0	ZNF574	47276376	0.050000	0.20438	1.000000	0.80357	0.983000	0.72400	1.075000	0.30716	1.288000	0.44600	-0.142000	0.14014	CGC		0.612	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		41	86	0	0	0	1	0	41	86				
SLC25A27	9481	broad.mit.edu	37	6	46623609	46623609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:46623609C>T	ENST00000371347.5	+	2	388	c.136C>T	c.(136-138)Cga>Tga	p.R46*	SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Nonsense_Mutation_p.R46*	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	46					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			CACAAAAACTCGACTCCAAAT	0.458																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(136-138)Cga>Tga		solute carrier family 25, member 27							64.0	63.0	64.0					6																	46623609		1857	4106	5963	SO:0001587	stop_gained	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46623609C>T	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.136C>T	6.37:g.46623609C>T	ENSP00000360398:p.Arg46*					SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Nonsense_Mutation_p.R46*	p.R46*	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		2	388	+			46					F5GWR4|Q5VTS9|Q8N518	Nonsense_Mutation	SNP	ENST00000371347.5	37	c.136C>T	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	C	38	7.202954	0.98132	.	.	ENSG00000153291	ENST00000371347;ENST00000411689	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0136	17.2399	0.87010	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000360398:R46X	R	+	1	2	SLC25A27	46731568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.036000	0.41165	2.645000	0.89757	0.650000	0.86243	CGA		0.458	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		31	32	0	0	0	1	0	31	32				
KLC1	3831	broad.mit.edu	37	14	104124027	104124027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:104124027C>T	ENST00000348520.6	+	3	725	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	KLC1_ENST00000553286.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000554280.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000452929.2_Nonsense_Mutation_p.Q136*|RP11-73M18.2_ENST00000472726.2_Nonsense_Mutation_p.Q308*|KLC1_ENST00000347839.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000389744.4_Nonsense_Mutation_p.Q136*|KLC1_ENST00000445352.4_Nonsense_Mutation_p.Q136*|KLC1_ENST00000246489.7_Nonsense_Mutation_p.Q136*|KLC1_ENST00000334553.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557575.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000380038.3_Nonsense_Mutation_p.Q136*|KLC1_ENST00000555836.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557450.1_Nonsense_Mutation_p.Q136*	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	136					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GAAGAGTGAGCAGTCTGTGGC	0.507																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(406-408)Cag>Tag		kinesin light chain 1							99.0	83.0	88.0					14																	104124027		2203	4300	6503	SO:0001587	stop_gained	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104124027C>T	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.406C>T	14.37:g.104124027C>T	ENSP00000341154:p.Gln136*					KLC1_ENST00000555836.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000347839.6_Nonsense_Mutation_p.Q136*|RP11-73M18.2_ENST00000472726.2_Nonsense_Mutation_p.Q308*|KLC1_ENST00000452929.2_Nonsense_Mutation_p.Q136*|KLC1_ENST00000348520.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000553286.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000554280.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557575.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000334553.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000445352.4_Nonsense_Mutation_p.Q136*|KLC1_ENST00000380038.3_Nonsense_Mutation_p.Q136*|KLC1_ENST00000246489.7_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557450.1_Nonsense_Mutation_p.Q136*	p.Q136*			Q07866	KLC1_HUMAN			3	675	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	136					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Nonsense_Mutation	SNP	ENST00000348520.6	37	c.406C>T	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974544	0.92919	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-22.1838	19.7433	0.96241	0.0:1.0:0.0:0.0	.	.	.	.	X	136;136;136;136;136;136;136;136;136;136;136;136;136;136;136;308	.	ENSP00000246489:Q136X	Q	+	1	0	KLC1;RP11-73M18.2	103193780	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.733000	0.93635	0.655000	0.94253	CAG		0.507	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		27	74	0	0	0	1	0	27	74				
C5orf15	56951	broad.mit.edu	37	5	133292586	133292586	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:133292586C>T	ENST00000231512.3	-	3	964	c.762G>A	c.(760-762)atG>atA	p.M254I	C5orf15_ENST00000507191.1_5'Flank	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	254						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TCAAAGAAGGCATTGCCTCAT	0.338																																						ENST00000231512.3																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(760-762)atG>atA		chromosome 5 open reading frame 15							99.0	95.0	97.0					5																	133292586		2203	4300	6503	SO:0001583	missense	56951					integral to membrane		g.chr5:133292586C>T	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.762G>A	5.37:g.133292586C>T	ENSP00000231512:p.Met254Ile						p.M254I	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		3	964	-			254					B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP	ENST00000231512.3	37	c.762G>A	CCDS4167.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637987	0.87760	.	.	ENSG00000113583	ENST00000231512;ENST00000451255	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	L	0.40543	1.245	0.58432	D	0.999998	D	0.53885	0.963	P	0.56788	0.806	T	0.64283	-0.6444	9	0.44086	T	0.13	-21.3365	17.6907	0.88268	0.0:1.0:0.0:0.0	.	254	Q8NC54	KCT2_HUMAN	I	254;154	.	ENSP00000231512:M254I	M	-	3	0	C5orf15	133320485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.272000	0.78516	2.441000	0.82636	0.650000	0.86243	ATG		0.338	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1	NM_020199		11	52	0	0	0	1	0	11	52				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	3	0	0	0	1	0	3	3				
ATXN1	6310	broad.mit.edu	37	6	16327921	16327921	+	Missense_Mutation	SNP	C	C	A	rs201030692		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:16327921C>A	ENST00000244769.4	-	8	1557	c.621G>T	c.(619-621)caG>caT	p.Q207H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	207	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.Q207H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgctgctgctgct	0.662																																						ENST00000244769.4																			2	Substitution - Missense(2)	p.Q207H(2)	lung(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(619-621)caG>caT		ataxin 1							5.0	8.0	7.0					6																	16327921		1605	3502	5107	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327921C>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.621G>T	6.37:g.16327921C>A	ENSP00000244769:p.Gln207His					ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1557	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	207			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.621G>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	c	0.699	-0.791581	0.02884	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56275	0.47;0.47	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.38106	0.265	T	0.21042	-1.0257	8	0.35671	T	0.21	.	.	.	.	.	207	P54253	ATX1_HUMAN	H	207	ENSP00000244769:Q207H;ENSP00000416360:Q207H	ENSP00000244769:Q207H	Q	-	3	2	ATXN1	16435900	0.128000	0.22383	0.017000	0.16124	0.068000	0.16541	-0.076000	0.11412	-1.412000	0.02030	-1.404000	0.01136	CAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		3	16	1	0	1	1	1	3	16				
RASSF5	83593	broad.mit.edu	37	1	206711576	206711576	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:206711576G>A	ENST00000355294.4	+	2	590	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	RASSF5_ENST00000367117.3_Missense_Mutation_p.R178Q	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	178					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTTTATCCCGGGACAGACCC	0.567																																					GBM(162;656 1984 11916 22872 31529)	ENST00000338603.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(532-534)cGg>cAg		Ras association (RalGDS/AF-6) domain family member 5							136.0	127.0	130.0					1																	206711576		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206711576G>A	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.533G>A	1.37:g.206711576G>A	ENSP00000347443:p.Arg178Gln					RASSF5_ENST00000367117.3_Missense_Mutation_p.R178Q|RASSF5_ENST00000355294.4_Missense_Mutation_p.R178Q	p.R178Q	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		2	590	+	Breast(84;0.183)		178					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.533G>A	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627613	0.28978	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118	T;T;T	0.14766	3.09;2.49;2.48	5.84	-2.01	0.07410	.	1.496170	0.04101	N	0.312905	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	1	B;B;B	0.15473	0.013;0.002;0.005	B;B;B	0.06405	0.002;0.002;0.002	T	0.32348	-0.9910	10	0.13108	T	0.6	0.0228	4.046	0.09773	0.3695:0.0:0.3758:0.2547	.	178;178;180	Q8WWW0-3;Q8WWW0;Q59GG4	.;RASF5_HUMAN;.	Q	178	ENSP00000347443:R178Q;ENSP00000356084:R178Q;ENSP00000342620:R178Q	ENSP00000342620:R178Q	R	+	2	0	RASSF5	204778199	0.000000	0.05858	0.000000	0.03702	0.421000	0.31385	-0.861000	0.04268	-0.355000	0.08199	-0.251000	0.11542	CGG		0.567	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		134	87	0	0	0	1	0	134	87				
NSL1	25936	broad.mit.edu	37	1	212964879	212964879	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:212964879G>A	ENST00000366977.3	-	1	245	c.227C>T	c.(226-228)gCg>gTg	p.A76V	TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000526641.1_5'Flank|NSL1_ENST00000366975.6_Missense_Mutation_p.A76V|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000366973.4_5'Flank|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Missense_Mutation_p.A76V|TATDN3_ENST00000531963.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank|NSL1_ENST00000366976.1_Missense_Mutation_p.A76V|TATDN3_ENST00000532324.1_5'Flank|NSL1_ENST00000366978.1_5'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	76					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TACCCACTGCGCATCTCGCAG	0.582																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(226-228)gCg>gTg		NSL1, MIS12 kinetochore complex component							106.0	117.0	113.0					1																	212964879		2199	4296	6495	SO:0001583	missense	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964879G>A	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.227C>T	1.37:g.212964879G>A	ENSP00000355944:p.Ala76Val					NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366975.6_Missense_Mutation_p.A76V|NSL1_ENST00000422588.2_Missense_Mutation_p.A76V|NSL1_ENST00000366976.1_Missense_Mutation_p.A76V|NSL1_ENST00000366978.1_5'UTR	p.A76V	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	245	-			76					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	37	c.227C>T	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.257988	0.01457	.	.	ENSG00000117697	ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	T;T;T;T	0.49720	1.4;0.77;1.38;0.81	5.13	0.381	0.16228	.	0.554792	0.20198	N	0.097160	T	0.28797	0.0714	L	0.38838	1.175	0.09310	N	1	B;B;B	0.28178	0.018;0.075;0.202	B;B;B	0.19946	0.011;0.016;0.027	T	0.18241	-1.0343	10	0.15066	T	0.55	-0.1332	7.1772	0.25751	0.4624:0.0:0.5376:0.0	.	76;76;76	B4E071;Q96IY1;E7ETD5	.;NSL1_HUMAN;.	V	76	ENSP00000355944:A76V;ENSP00000388406:A76V;ENSP00000355942:A76V;ENSP00000355943:A76V	ENSP00000355942:A76V	A	-	2	0	NSL1	211031502	0.990000	0.36364	0.044000	0.18714	0.124000	0.20399	0.922000	0.28734	-0.102000	0.12197	0.655000	0.94253	GCG		0.582	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		5	236	0	0	0	1	0	5	236				
MAGEA3	4102	broad.mit.edu	37	X	151935381	151935381	+	Silent	SNP	G	G	A	rs370647045		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:151935381G>A	ENST00000393902.3	-	3	1353	c.786C>T	c.(784-786)ccC>ccT	p.P262P	MAGEA3_ENST00000370278.3_Silent_p.P262P			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	262	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATCACTGCCGGGGACCTGCC	0.527																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(784-786)ccC>ccT		melanoma antigen family A, 3		G		0,3834		0,0,1632,570	109.0	110.0	109.0		786	-2.8	0.0	X		109	1,6721		0,1,2427,1866	no	coding-synonymous	MAGEA3	NM_005362.3		0,1,4059,2436	AA,AG,GG,G		0.0149,0.0,0.0095		262/315	151935381	1,10555	2202	4294	6496	SO:0001819	synonymous_variant	4102							g.chrX:151935381G>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.786C>T	X.37:g.151935381G>A						MAGEA3_ENST00000370278.3_Silent_p.P262P	p.P262P			P43357	MAGA3_HUMAN			3	1353	-	Acute lymphoblastic leukemia(192;6.56e-05)		262			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.786C>T	CCDS14715.1																																																																																				0.527	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		59	179	0	0	0	1	0	59	179				
GJB3	2707	broad.mit.edu	37	1	35250835	35250835	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:35250835A>G	ENST00000373366.2	+	2	1087	c.472A>G	c.(472-474)Atg>Gtg	p.M158V	GJB3_ENST00000373362.3_Missense_Mutation_p.M158V|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	158					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGCTTCAATATGCCGCGCCT	0.552																																						ENST00000373366.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15						c.(472-474)Atg>Gtg		gap junction protein, beta 3, 31kDa							173.0	184.0	180.0					1																	35250835		2203	4300	6503	SO:0001583	missense	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35250835A>G	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.472A>G	1.37:g.35250835A>G	ENSP00000362464:p.Met158Val					RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.M158V	p.M158V	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN			2	1087	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	158					B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	c.472A>G	CCDS384.1	.	.	.	.	.	.	.	.	.	.	a	3.933	-0.015807	0.07681	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.94576	-3.46;-3.46	5.31	1.09	0.20402	Gap junction protein, cysteine-rich domain (1);	0.063693	0.64402	D	0.000003	D	0.87237	0.6127	N	0.25031	0.7	0.31357	N	0.68176	B	0.21225	0.053	B	0.20955	0.032	T	0.82198	-0.0576	10	0.37606	T	0.19	.	8.0786	0.30731	0.417:0.4714:0.0:0.1116	.	158	O75712	CXB3_HUMAN	V	158;158;142	ENSP00000362464:M158V;ENSP00000362460:M158V	ENSP00000362460:M158V	M	+	1	0	GJB3	35023422	0.000000	0.05858	0.854000	0.33618	0.005000	0.04900	-0.075000	0.11431	0.834000	0.34852	0.454000	0.30748	ATG		0.552	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		69	60	0	0	0	1	0	69	60				
TUBB1	81027	broad.mit.edu	37	20	57599552	57599552	+	Missense_Mutation	SNP	C	C	T	rs200564118		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:57599552C>T	ENST00000217133.1	+	4	1339	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	357					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGCGACATCCCGCCCCGGGGG	0.552																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(1069-1071)cCg>cTg		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						51.0	50.0	50.0					20																	57599552		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599552C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1070C>T	20.37:g.57599552C>T	ENSP00000217133:p.Pro357Leu						p.P357L	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1339	+	all_lung(29;0.00711)		357						Missense_Mutation	SNP	ENST00000217133.1	37	c.1070C>T	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359821	0.61403	.	.	ENSG00000101162	ENST00000217133	D	0.83075	-1.68	5.54	5.54	0.83059	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95095	0.8411	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96880	0.9645	10	0.87932	D	0	.	18.4559	0.90720	0.0:1.0:0.0:0.0	.	357	Q9H4B7	TBB1_HUMAN	L	357	ENSP00000217133:P357L	ENSP00000217133:P357L	P	+	2	0	TUBB1	57032947	1.000000	0.71417	0.947000	0.38551	0.014000	0.08584	7.818000	0.86416	2.614000	0.88457	0.655000	0.94253	CCG		0.552	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		32	48	0	0	0	1	0	32	48				
GNB1	2782	broad.mit.edu	37	1	1747258	1747258	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:1747258G>A	ENST00000378609.4	-	5	471	c.140C>T	c.(139-141)aCg>aTg	p.T47M		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	47					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		TGTCCTCCTCGTGCGCATTTG	0.488																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(139-141)aCg>aTg		guanine nucleotide binding protein (G protein), beta polypeptide 1							148.0	116.0	127.0					1																	1747258		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1747258G>A	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.140C>T	1.37:g.1747258G>A	ENSP00000367872:p.Thr47Met						p.T47M	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	5	471	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	47					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.140C>T	CCDS34.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914339	0.33815	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000439272;ENST00000437146	T;T;T;T	0.01335	5.0;5.0;5.0;5.0	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.04724	0.0128	L	0.40543	1.245	0.80722	D	1	D	0.59357	0.985	P	0.57468	0.821	T	0.47086	-0.9144	10	0.59425	D	0.04	-11.2184	18.8427	0.92190	0.0:0.0:1.0:0.0	.	47	P62873	GBB1_HUMAN	M	47;47;47;34;47	ENSP00000367872:T47M;ENSP00000392765:T47M;ENSP00000399741:T34M;ENSP00000416651:T47M	ENSP00000367869:T47M	T	-	2	0	GNB1	1737118	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.981000	0.93465	2.801000	0.96364	0.655000	0.94253	ACG		0.488	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		11	29	0	0	0	1	0	11	29				
EPHA8	2046	broad.mit.edu	37	1	22928123	22928123	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:22928123C>T	ENST00000166244.3	+	17	2979	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	969	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCACAGGGACGTGCGCGCCC	0.697																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2905-2907)gaC>gaT		EPH receptor A8							16.0	18.0	17.0					1																	22928123		2190	4288	6478	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22928123C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2907C>T	1.37:g.22928123C>T							p.D969D	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	17	2979	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	969			SAM.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2907C>T	CCDS225.1																																																																																				0.697	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		5	10	0	0	0	1	0	5	10				
USP31	57478	broad.mit.edu	37	16	23080502	23080502	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:23080502C>T	ENST00000219689.7	-	16	2923	c.2924G>A	c.(2923-2925)cGc>cAc	p.R975H	USP31_ENST00000567975.1_Missense_Mutation_p.R268H	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R975H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGGGGGCAGGCGGTCCCCTTG	0.517																																						ENST00000219689.7																			1	Substitution - Missense(1)	p.R975H(1)	lung(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2923-2925)cGc>cAc		ubiquitin specific peptidase 31							75.0	80.0	78.0					16																	23080502		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080502C>T	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2924G>A	16.37:g.23080502C>T	ENSP00000219689:p.Arg975His					USP31_ENST00000567975.1_Missense_Mutation_p.R268H	p.R975H	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2923	-			975			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2924G>A	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	2.410	-0.335620	0.05278	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.08102	3.13	6.06	-1.47	0.08772	.	.	.	.	.	T	0.04907	0.0132	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.001;0.001	B;B;B	0.08055	0.003;0.0;0.002	T	0.40720	-0.9548	9	0.33141	T	0.24	0.1173	7.1687	0.25706	0.0:0.5708:0.1076:0.3215	.	278;975;268	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	H	975;278	ENSP00000219689:R975H	ENSP00000219689:R975H	R	-	2	0	USP31	22988003	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.223000	0.09177	-0.508000	0.06540	-1.000000	0.02509	CGC		0.517	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		40	52	0	0	0	1	0	40	52				
FAM179B	23116	broad.mit.edu	37	14	45481246	45481246	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:45481246T>A	ENST00000361577.3	+	7	3420	c.3206T>A	c.(3205-3207)aTt>aAt	p.I1069N	FAM179B_ENST00000382233.2_Missense_Mutation_p.N991K|FAM179B_ENST00000361462.2_Missense_Mutation_p.I1069N|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1069	Ser-rich.									endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAGAAAAAAATTTCTCATATT	0.294																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(3205-3207)aTt>aAt		family with sequence similarity 179, member B							53.0	56.0	55.0					14																	45481246		2201	4299	6500	SO:0001583	missense	23116						binding	g.chr14:45481246T>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3206T>A	14.37:g.45481246T>A	ENSP00000355045:p.Ile1069Asn					KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.I1069N|FAM179B_ENST00000382233.2_Missense_Mutation_p.N991K	p.I1069N			Q9Y4F4	F179B_HUMAN			7	3389	+			1069			Ser-rich.		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.3206T>A	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.440|3.440	-0.114200|-0.114200	0.06881|0.06881	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462|ENST00000382233	T;T|T	0.03951|0.30714	3.75;3.75|1.52	5.92|5.92	-5.98|-5.98	0.02220|0.02220	Armadillo-type fold (1);|.	0.657345|.	0.16167|.	N|.	0.226467|.	T|T	0.08670|0.08670	0.0215|0.0215	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.22906|0.22906	-1.0203|-1.0203	10|7	0.12103|0.87932	T|D	0.63|0	0.0275|0.0275	0.1215|0.1215	0.00065|0.00065	0.2586:0.2007:0.2403:0.3004|0.2586:0.2007:0.2403:0.3004	.|.	1069;1069|.	G3XAE9;Q9Y4F4|.	.;F179B_HUMAN|.	N|K	1069|991	ENSP00000355045:I1069N;ENSP00000354917:I1069N|ENSP00000371668:N991K	ENSP00000354917:I1069N|ENSP00000371668:N991K	I|N	+|+	2|3	0|2	FAM179B|FAM179B	44550996|44550996	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.010000|0.010000	0.07245|0.07245	-0.808000|-0.808000	0.04515|0.04515	-1.159000|-1.159000	0.02807|0.02807	-1.199000|-1.199000	0.01669|0.01669	ATT|AAT		0.294	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	44	0	0	0	1	0	4	44				
SPTB	6710	broad.mit.edu	37	14	65270419	65270419	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:65270419C>T	ENST00000389721.5	-	3	412	c.380G>A	c.(379-381)cGt>cAt	p.R127H	SPTB_ENST00000556626.1_Missense_Mutation_p.R127H|SPTB_ENST00000389720.3_Missense_Mutation_p.R127H|SPTB_ENST00000542895.1_Missense_Mutation_p.R127H|SPTB_ENST00000389722.3_Missense_Mutation_p.R127H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	127	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGGTGTACACGCTGCTCCTT	0.607																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(379-381)cGt>cAt		spectrin, beta, erythrocytic							112.0	94.0	100.0					14																	65270419		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65270419C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.380G>A	14.37:g.65270419C>T	ENSP00000374371:p.Arg127His					SPTB_ENST00000556626.1_Missense_Mutation_p.R127H|SPTB_ENST00000542895.1_Missense_Mutation_p.R127H|SPTB_ENST00000389720.3_Missense_Mutation_p.R127H|SPTB_ENST00000389721.5_Missense_Mutation_p.R127H	p.R127H	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	3	433	-		all_lung(585;4.15e-09)	127			Actin-binding.|CH 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.380G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405267	0.62288	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.48	5.48	0.80851	Calponin homology domain (5);	0.055818	0.64402	D	0.000003	T	0.48786	0.1519	N	0.17474	0.49	0.48452	D	0.999659	P;P	0.50819	0.931;0.939	P;P	0.45856	0.495;0.46	T	0.47935	-0.9078	10	0.36615	T	0.2	.	18.4855	0.90827	0.0:1.0:0.0:0.0	.	127;131	P11277;Q59FP5	SPTB1_HUMAN;.	H	131;127;127;127;127;127	ENSP00000374372:R127H;ENSP00000451752:R127H;ENSP00000374371:R127H;ENSP00000443882:R127H;ENSP00000374370:R127H	ENSP00000374370:R127H	R	-	2	0	SPTB	64340172	0.979000	0.34478	0.984000	0.44739	0.984000	0.73092	2.580000	0.46068	2.744000	0.94065	0.563000	0.77884	CGT		0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			13	43	0	0	0	1	0	13	43				
BNC2	54796	broad.mit.edu	37	9	16419174	16419174	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:16419174T>C	ENST00000380672.4	-	7	3170	c.3113A>G	c.(3112-3114)aAc>aGc	p.N1038S	BNC2_ENST00000380667.2_Missense_Mutation_p.N971S|BNC2_ENST00000545497.1_Missense_Mutation_p.N943S	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCAAATGTTGCACATGAT	0.512																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(3112-3114)aAc>aGc		basonuclin 2							103.0	82.0	89.0					9																	16419174		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419174T>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.3113A>G	9.37:g.16419174T>C	ENSP00000370047:p.Asn1038Ser					BNC2_ENST00000380667.2_Missense_Mutation_p.N971S|BNC2_ENST00000545497.1_Missense_Mutation_p.N943S	p.N1038S	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	3170	-			1038						Missense_Mutation	SNP	ENST00000380672.4	37	c.3113A>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	8.322	0.824587	0.16678	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.50277	0.75;0.75;0.75	6.08	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.091491	0.64402	D	0.000001	T	0.33000	0.0848	N	0.20685	0.6	0.80722	D	1	B;B;B	0.24920	0.007;0.114;0.009	B;B;B	0.27380	0.011;0.079;0.023	T	0.07083	-1.0791	10	0.15952	T	0.53	-19.6406	13.5708	0.61845	0.0:0.0:0.1298:0.8702	.	943;1038;803	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	S	1038;971;943	ENSP00000370047:N1038S;ENSP00000370042:N971S;ENSP00000444640:N943S	ENSP00000370042:N971S	N	-	2	0	BNC2	16409174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.325000	0.52030	1.104000	0.41587	0.482000	0.46254	AAC		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		22	29	0	0	0	1	0	22	29				
KRTAP5-10	387273	broad.mit.edu	37	11	71276918	71276918	+	Silent	SNP	C	C	T	rs375555617		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:71276918C>T	ENST00000398531.1	+	1	310	c.285C>T	c.(283-285)ggC>ggT	p.G95G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	95	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G95G(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTGTGGCTCCTGTGGGG	0.687																																						ENST00000398531.1																			1	Substitution - coding silent(1)	p.G95G(1)	upper_aerodigestive_tract(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(283-285)ggC>ggT		keratin associated protein 5-10		C		161,4009		0,161,1924	35.0	55.0	48.0		285	-0.0	0.2	11		48	119,8289		0,119,4085	no	coding-synonymous	KRTAP5-10	NM_001012710.1		0,280,6009	TT,TC,CC		1.4153,3.8609,2.2261		95/203	71276918	280,12298	2085	4204	6289	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276918C>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.285C>T	11.37:g.71276918C>T						KRTAP5-10_ENST00000376536.4_Intron	p.G95G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	310	+			95			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.285C>T	CCDS41684.1																																																																																				0.687	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			7	93	0	0	0	1	0	7	93				
HNF4A	3172	broad.mit.edu	37	20	43043173	43043173	+	Silent	SNP	C	C	T	rs557888367		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:43043173C>T	ENST00000316099.4	+	5	608	c.519C>T	c.(517-519)aaC>aaT	p.N173N	HNF4A_ENST00000609795.1_Silent_p.N151N|HNF4A_ENST00000415691.2_Silent_p.N173N|HNF4A_ENST00000457232.1_Silent_p.N151N|HNF4A_ENST00000316673.4_Silent_p.N151N|HNF4A_ENST00000443598.2_Silent_p.N173N	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	173					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGGGATCAACGGCGACATTC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19361	0.0		0.0	False		,,,				2504	0.0				Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(517-519)aaC>aaT		hepatocyte nuclear factor 4, alpha							87.0	76.0	80.0					20																	43043173		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43043173C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.519C>T	20.37:g.43043173C>T						HNF4A_ENST00000415691.1_Silent_p.N173N|HNF4A_ENST00000443598.2_Silent_p.N173N|HNF4A_ENST00000457232.1_Silent_p.N151N	p.N173N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	608	+		Myeloproliferative disorder(115;0.0122)	173					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.519C>T	CCDS13330.1																																																																																				0.582	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			25	47	0	0	0	1	0	25	47				
PDE4DIP	9659	broad.mit.edu	37	1	145075040	145075040	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:145075040C>A	ENST00000369345.4	-	2	468	c.254G>T	c.(253-255)gGc>gTc	p.G85V	PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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)		CTCCATCCAGCCATCAGGCAG	0.502			T	PDGFRB	MPD																																	ENST00000369345.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				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						c.(253-255)gGc>gTc		phosphodiesterase 4D interacting protein							74.0	73.0	73.0					1																	145075040		876	1991	2867	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075040C>A	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	ENST00000369345.4:c.254G>T	1.37:g.145075040C>A	ENSP00000358351:p.Gly85Val					PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369348.3_Intron	p.G85V			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	2	468	-			0					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	ENST00000369345.4	37	c.254G>T		.	.	.	.	.	.	.	.	.	.	C	11.38	1.621834	0.28889	.	.	ENSG00000178104	ENST00000369345	.	.	.	3.51	2.58	0.30949	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.18873	N	0.999986	P	0.40909	0.732	B	0.38842	0.283	T	0.06320	-1.0833	7	0.87932	D	0	.	8.2907	0.31956	0.2354:0.7646:0.0:0.0	.	85	Q5TB27	.	V	85	.	ENSP00000358351:G85V	G	-	2	0	PDE4DIP	143786397	0.018000	0.18449	0.180000	0.23079	0.029000	0.11900	0.449000	0.21744	1.052000	0.40392	0.561000	0.74099	GGC		0.502	PDE4DIP-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000038864.2	NM_022359		6	47	1	0	0.00116845	1	0.00118836	6	47				
FOXA2	3170	broad.mit.edu	37	20	22563241	22563241	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:22563241G>C	ENST00000377115.4	-	3	802	c.621C>G	c.(619-621)atC>atG	p.I207M	FOXA2_ENST00000419308.2_Missense_Mutation_p.I213M	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	207					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCGAGTGGCGGATGGAGTTCT	0.617																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(619-621)atC>atG		forkhead box A2							55.0	58.0	57.0					20																	22563241		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563241G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.621C>G	20.37:g.22563241G>C	ENSP00000366319:p.Ile207Met					FOXA2_ENST00000377115.4_Missense_Mutation_p.I207M|FOXA2_ENST00000319993.4_Missense_Mutation_p.I213M	p.I207M	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	823	-	Lung NSC(19;0.188)		207					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.621C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.408991	0.62399	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.97811	-4.55;-4.55;-4.55	4.98	4.03	0.46877	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	U	0.000010	D	0.99180	0.9716	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.98813	1.0744	10	0.87932	D	0	.	13.2905	0.60269	0.0784:0.0:0.9216:0.0	.	207;213	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	M	207;207;213;93	ENSP00000366319:I207M;ENSP00000400341:I207M;ENSP00000315955:I213M	ENSP00000315955:I213M	I	-	3	3	FOXA2	22511241	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.412000	0.52679	1.102000	0.41551	-0.211000	0.12701	ATC		0.617	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			61	30	0	0	0	1	0	61	30				
TBP	6908	broad.mit.edu	37	6	170871064	170871064	+	Silent	SNP	G	G	A	rs112748399		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:170871064G>A	ENST00000392092.2	+	3	519	c.240G>A	c.(238-240)caG>caA	p.Q80Q	TBP_ENST00000540980.1_Silent_p.Q60Q|TBP_ENST00000230354.6_Silent_p.Q80Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	80	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)			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)		agcagcagcagcagcagcagc	0.577																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(238-240)caG>caA		TATA box binding protein							11.0	17.0	15.0					6																	170871064		1936	3813	5749	SO:0001819	synonymous_variant	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.chr6:170871064G>A	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.240G>A	6.37:g.170871064G>A						TBP_ENST00000230354.6_Silent_p.Q80Q|TBP_ENST00000540980.1_Silent_p.Q60Q	p.Q80Q	NM_003194.4	NP_003185.1	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	519	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	80			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.240G>A	CCDS5315.1																																																																																				0.577	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		6	51	0	0	0	1	0	6	51				
MED12	9968	broad.mit.edu	37	X	70344032	70344032	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:70344032C>T	ENST00000374080.3	+	13	1800	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	MED12_ENST00000374102.1_Missense_Mutation_p.R590W|MED12_ENST00000333646.6_Missense_Mutation_p.R590W			Q93074	MED12_HUMAN	mediator complex subunit 12	590					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAGAGTGAGCGGGTGGAATT	0.473			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(1768-1770)Cgg>Tgg		mediator complex subunit 12							88.0	78.0	81.0					X																	70344032		1920	4111	6031	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70344032C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1768C>T	X.37:g.70344032C>T	ENSP00000363193:p.Arg590Trp					MED12_ENST00000374080.3_Missense_Mutation_p.R590W|MED12_ENST00000374102.1_Missense_Mutation_p.R590W	p.R590W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			13	1967	+	Renal(35;0.156)		590					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1768C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	18.66	3.672095	0.67928	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.5	3.56	0.40772	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.142729	0.45867	D	0.000325	T	0.53334	0.1790	M	0.65498	2.005	0.49389	D	0.999781	D;D;D;D	0.76494	0.995;0.999;0.999;0.998	P;P;D;D	0.66716	0.877;0.875;0.946;0.925	T	0.57688	-0.7768	10	0.87932	D	0	-15.6622	10.9203	0.47161	0.281:0.719:0.0:0.0	.	590;437;590;590	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	W	590;590;590;590;558	ENSP00000333125:R590W;ENSP00000363215:R590W;ENSP00000363193:R590W;ENSP00000414203:R558W	ENSP00000333125:R590W	R	+	1	2	MED12	70260757	1.000000	0.71417	0.942000	0.38095	0.984000	0.73092	3.476000	0.53143	2.070000	0.61991	0.422000	0.28245	CGG		0.473	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		22	29	0	0	0	1	0	22	29				
TGM7	116179	broad.mit.edu	37	15	43574783	43574783	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:43574783C>T	ENST00000452443.2	-	8	1044	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	347					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GAGATCTTTCCGGATCATCCA	0.552																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1039-1041)cGg>cAg		transglutaminase 7	L-Glutamine(DB00130)						84.0	71.0	75.0					15																	43574783		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43574783C>T	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1040G>A	15.37:g.43574783C>T	ENSP00000389466:p.Arg347Gln						p.R347Q	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	8	1044	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	347						Missense_Mutation	SNP	ENST00000452443.2	37	c.1040G>A	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221975	0.95139	.	.	ENSG00000159495	ENST00000452443	T	0.56103	0.48	5.03	4.1	0.47936	Transglutaminase-like (2);	0.062472	0.64402	D	0.000006	T	0.71525	0.3350	M	0.79343	2.45	0.33388	D	0.575684	D	0.89917	1.0	D	0.87578	0.998	T	0.81747	-0.0791	10	0.87932	D	0	-21.259	12.9232	0.58245	0.1636:0.8364:0.0:0.0	.	347	Q96PF1	TGM7_HUMAN	Q	347	ENSP00000389466:R347Q	ENSP00000389466:R347Q	R	-	2	0	TGM7	41362075	0.680000	0.27605	1.000000	0.80357	0.995000	0.86356	5.790000	0.69038	1.232000	0.43678	0.591000	0.81541	CGG		0.552	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		3	2	0	0	0	1	0	3	2				
TENM3	55714	broad.mit.edu	37	4	183721107	183721107	+	Missense_Mutation	SNP	G	G	A	rs200859700	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:183721107G>A	ENST00000511685.1	+	28	7826	c.7703G>A	c.(7702-7704)cGc>cAc	p.R2568H	TENM3_ENST00000406950.2_Missense_Mutation_p.R2568H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2568					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCAGCGGCCGCAAGGCGCTG	0.642													G|||	19	0.00379393	0.0136	0.0014	5008	,	,		11731	0.0		0.0	False		,,,				2504	0.0					ENST00000511685.1																			0											c.(7702-7704)cGc>cAc		teneurin transmembrane protein 3		G	HIS/ARG	56,4252		0,56,2098	22.0	27.0	26.0		7703	4.3	1.0	4		26	3,8495		0,3,4246	yes	missense	ODZ3	NM_001080477.1	29	0,59,6344	AA,AG,GG		0.0353,1.2999,0.4607	benign	2568/2700	183721107	59,12747	2154	4249	6403	SO:0001583	missense	55714							g.chr4:183721107G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7703G>A	4.37:g.183721107G>A	ENSP00000424226:p.Arg2568His					TENM3_ENST00000406950.2_Missense_Mutation_p.R2568H	p.R2568H							28	7826	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.7703G>A	CCDS47165.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.01	2.407273	0.42715	0.012999	3.53E-4	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86769	-2.17;-2.17	4.35	4.35	0.52113	.	.	.	.	.	T	0.78886	0.4354	L	0.39245	1.2	0.58432	D	0.999998	B	0.09022	0.002	B	0.04013	0.001	T	0.78347	-0.2239	9	0.51188	T	0.08	.	17.4173	0.87504	0.0:0.0:1.0:0.0	.	2568	Q9P273	TEN3_HUMAN	H	2568	ENSP00000424226:R2568H;ENSP00000385276:R2568H	ENSP00000385276:R2568H	R	+	2	0	ODZ3	183958101	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.345000	0.72995	2.420000	0.82092	0.460000	0.39030	CGC		0.642	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			15	0	0	0	0	1	0	15	0				
ZNF83	55769	broad.mit.edu	37	19	53116462	53116462	+	Silent	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:53116462A>G	ENST00000597597.1	-	2	3609	c.1356T>C	c.(1354-1356)acT>acC	p.T452T	ZNF83_ENST00000536937.1_Silent_p.T452T|ZNF83_ENST00000544146.1_Silent_p.T452T|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Silent_p.T452T|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.T424T|ZNF83_ENST00000545872.1_Silent_p.T452T|ZNF83_ENST00000541777.2_Silent_p.T452T			P51522	ZNF83_HUMAN	zinc finger protein 83	452					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GTTTCTCTCCAGTGTGAATTT	0.388																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1354-1356)acT>acC		zinc finger protein 83							113.0	112.0	112.0					19																	53116462		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116462A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1356T>C	19.37:g.53116462A>G						ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.T452T|ZNF83_ENST00000541777.2_Silent_p.T452T|ZNF83_ENST00000536937.1_Silent_p.T452T|ZNF83_ENST00000545872.1_Silent_p.T452T|ZNF83_ENST00000301096.3_Silent_p.T452T|ZNF83_ENST00000391789.4_Silent_p.T424T	p.T452T			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3609	-			452					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1356T>C	CCDS12854.1																																																																																				0.388	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		41	211	0	0	0	1	0	41	211				
APAF1	317	broad.mit.edu	37	12	99053108	99053108	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:99053108C>T	ENST00000551964.1	+	5	1433	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	APAF1_ENST00000552268.1_Missense_Mutation_p.R233C|APAF1_ENST00000339433.3_Missense_Mutation_p.R233C|APAF1_ENST00000357310.1_Missense_Mutation_p.R233C|APAF1_ENST00000333991.1_Missense_Mutation_p.R233C|APAF1_ENST00000550527.1_Missense_Mutation_p.R222C|APAF1_ENST00000359972.2_Missense_Mutation_p.R222C|APAF1_ENST00000547045.1_Missense_Mutation_p.R233C|APAF1_ENST00000549007.1_Missense_Mutation_p.R233C	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	233	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCTGATGCTTCGCAAACACCC	0.453																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(697-699)Cgc>Tgc		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						85.0	84.0	84.0					12																	99053108		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99053108C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.697C>T	12.37:g.99053108C>T	ENSP00000448165:p.Arg233Cys					APAF1_ENST00000359972.2_Missense_Mutation_p.R222C|APAF1_ENST00000333991.1_Missense_Mutation_p.R233C|APAF1_ENST00000549007.1_Missense_Mutation_p.R233C|APAF1_ENST00000339433.3_Missense_Mutation_p.R233C|APAF1_ENST00000550527.1_Missense_Mutation_p.R222C|APAF1_ENST00000547045.1_Missense_Mutation_p.R233C|APAF1_ENST00000552268.1_Missense_Mutation_p.R233C|APAF1_ENST00000551964.1_Missense_Mutation_p.R233C	p.R233C	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			5	1274	+			233			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.697C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771174	0.49680	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.53	4.64	0.57946	NB-ARC (1);	0.204216	0.52532	N	0.000061	T	0.75496	0.3857	M	0.70595	2.14	0.80722	D	1	B;B;B;B;B	0.31256	0.316;0.09;0.079;0.035;0.002	B;B;B;B;B	0.25291	0.059;0.041;0.011;0.016;0.001	T	0.75830	-0.3179	10	0.56958	D	0.05	-15.5938	14.5151	0.67814	0.0:0.9296:0.0:0.0704	.	233;233;222;233;222	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	C	233;222;233;233;233;233;222;233;233	ENSP00000448165:R233C;ENSP00000353059:R222C;ENSP00000349862:R233C;ENSP00000341830:R233C;ENSP00000334558:R233C;ENSP00000448826:R233C;ENSP00000448449:R222C;ENSP00000449791:R233C;ENSP00000448161:R233C	ENSP00000334558:R233C	R	+	1	0	APAF1	97577239	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.068000	0.76748	1.344000	0.45657	0.650000	0.86243	CGC		0.453	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		12	10	0	0	0	1	0	12	10				
PADI1	29943	broad.mit.edu	37	1	17570624	17570624	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:17570624C>T	ENST00000375471.4	+	16	1970	c.1878C>T	c.(1876-1878)caC>caT	p.H626H	PADI1_ENST00000537499.1_Silent_p.H183H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Silent_p.H97H|PADI1_ENST00000413717.2_Silent_p.H141H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	626					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGGGCCTGCACTGCATCTTCA	0.597																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1876-1878)caC>caT		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						97.0	88.0	91.0					1																	17570624		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17570624C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1878C>T	1.37:g.17570624C>T						PADI1_ENST00000536552.1_Silent_p.H97H|PADI1_ENST00000537499.1_Silent_p.H183H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Silent_p.H141H	p.H626H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	16	1970	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	626					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.1878C>T	CCDS178.1																																																																																				0.597	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		39	38	0	0	0	1	0	39	38				
LRRC43	254050	broad.mit.edu	37	12	122672355	122672355	+	Silent	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:122672355C>A	ENST00000339777.4	+	4	658	c.630C>A	c.(628-630)ccC>ccA	p.P210P	LRRC43_ENST00000425921.1_Silent_p.P25P	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	210										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TTCTAGGCCCCTTGGAAAGTC	0.562																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(628-630)ccC>ccA		leucine rich repeat containing 43							68.0	69.0	68.0					12																	122672355		1939	4130	6069	SO:0001819	synonymous_variant	254050							g.chr12:122672355C>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.630C>A	12.37:g.122672355C>A						LRRC43_ENST00000425921.1_Silent_p.P25P	p.P210P	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	4	658	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		210					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.630C>A	CCDS45001.1																																																																																				0.562	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		25	12	1	0	1.55811e-20	1	1.69031e-20	25	12				
ZNF804B	219578	broad.mit.edu	37	7	88963258	88963258	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:88963258A>G	ENST00000333190.4	+	4	1571	c.962A>G	c.(961-963)cAt>cGt	p.H321R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	321							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTGGCATTCATGCTTCATTC	0.328										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(961-963)cAt>cGt		zinc finger protein 804B							43.0	44.0	44.0					7																	88963258		2203	4297	6500	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963258A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.962A>G	7.37:g.88963258A>G	ENSP00000329638:p.His321Arg	HNSCC(36;0.09)					p.H321R	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1571	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		321					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.962A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	a	0.008	-1.896257	0.00522	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	5.14	-0.0798	0.13709	.	0.671525	0.14164	N	0.337172	T	0.03695	0.0105	L	0.40543	1.245	0.09310	N	1	P	0.41947	0.766	B	0.34038	0.174	T	0.37911	-0.9685	10	0.30854	T	0.27	2.4992	1.8471	0.03161	0.484:0.2564:0.1364:0.1233	.	321	A4D1E1	Z804B_HUMAN	R	321	ENSP00000329638:H321R	ENSP00000329638:H321R	H	+	2	0	ZNF804B	88801194	0.000000	0.05858	0.000000	0.03702	0.675000	0.39556	0.365000	0.20348	-0.146000	0.11274	-0.253000	0.11424	CAT		0.328	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	32	0	0	0	1	0	14	32				
CDH26	60437	broad.mit.edu	37	20	58587675	58587675	+	Intron	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:58587675A>G	ENST00000244047.5	+	15	2483				CDH26_ENST00000348616.4_Missense_Mutation_p.S797G|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Missense_Mutation_p.S130G|CDH26_ENST00000244049.3_Missense_Mutation_p.S89G			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCCATCCCTCAGCTCTCTGGC	0.537																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(2389-2391)Agc>Ggc		cadherin 26							96.0	94.0	95.0					20																	58587675		2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58587675A>G	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5833A>G	20.37:g.58587675A>G						CDH26_ENST00000244049.3_Missense_Mutation_p.S89G|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Missense_Mutation_p.S130G|CDH26_ENST00000244047.5_Intron	p.S797G	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		18	2689	+	all_lung(29;0.00963)		256					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.2389A>G		.	.	.	.	.	.	.	.	.	.	A	13.01	2.109525	0.37242	.	.	ENSG00000124215	ENST00000348616;ENST00000244049;ENST00000350849	T;D;D	0.87491	0.03;-2.26;-2.26	3.63	-0.0445	0.13855	.	.	.	.	.	T	0.71745	0.3376	.	.	.	0.09310	N	1	P;P;B	0.34639	0.461;0.461;0.27	B;B;B	0.28849	0.095;0.095;0.059	T	0.58025	-0.7709	8	0.19590	T	0.45	.	4.7885	0.13236	0.447:0.4382:0.1148:0.0	.	89;130;797	Q8IXH8-5;Q8IXH8-2;Q8IXH8-4	.;.;.	G	797;89;130	ENSP00000339390:S797G;ENSP00000244049:S89G;ENSP00000310845:S130G	ENSP00000244049:S89G	S	+	1	0	CDH26	58021070	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-0.191000	0.09601	-0.030000	0.13804	0.377000	0.23210	AGC		0.537	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		65	35	0	0	0	1	0	65	35				
OR2A14	135941	broad.mit.edu	37	7	143826872	143826872	+	Missense_Mutation	SNP	G	G	A	rs565673957		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:143826872G>A	ENST00000408899.2	+	1	722	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CATCCTGGCCGCCATCTTGAG	0.607																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(667-669)Gcc>Acc		olfactory receptor, family 2, subfamily A, member 14							115.0	119.0	117.0					7																	143826872		2055	4203	6258	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826872G>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.667G>A	7.37:g.143826872G>A	ENSP00000386137:p.Ala223Thr						p.A223T	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	722	+	Melanoma(164;0.0783)		223					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.667G>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238609	0.22711	.	.	ENSG00000221938	ENST00000408899	T	0.00188	8.59	4.18	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32314	U	0.006271	T	0.00109	0.0003	N	0.04686	-0.185	0.21473	N	0.999677	P	0.36789	0.57	B	0.39094	0.29	T	0.20273	-1.0280	10	0.29301	T	0.29	-11.7295	6.9594	0.24590	0.0954:0.0:0.7324:0.1722	.	223	Q96R47	O2A14_HUMAN	T	223	ENSP00000386137:A223T	ENSP00000386137:A223T	A	+	1	0	OR2A14	143457805	0.000000	0.05858	0.526000	0.27913	0.010000	0.07245	0.042000	0.13949	0.495000	0.27882	0.561000	0.74099	GCC		0.607	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			5	296	0	0	0	1	0	5	296				
FAT1	2195	broad.mit.edu	37	4	187509884	187509884	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:187509884G>A	ENST00000441802.2	-	27	13838	c.13629C>T	c.(13627-13629)acC>acT	p.T4543T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4543					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGAGGCGGTGGAGGCGT	0.597										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(13627-13629)acC>acT		FAT atypical cadherin 1							54.0	63.0	60.0					4																	187509884		2158	4250	6408	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187509884G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13629C>T	4.37:g.187509884G>A		HNSCC(5;0.00058)					p.T4543T	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			27	13838	-			4543						Silent	SNP	ENST00000441802.2	37	c.13629C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	5.218	0.225781	0.09916	.	.	ENSG00000083857	ENST00000512772	.	.	.	5.5	-10.8	0.00216	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55711	-0.8098	4	.	.	.	.	6.9291	0.24432	0.1323:0.1362:0.1311:0.6004	.	.	.	.	C	323	.	.	R	-	1	0	FAT1	187746878	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-2.667000	0.00846	-3.209000	0.00215	-2.189000	0.00312	CGC		0.597	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	1	0	0	0	1	0	14	1				
NRXN1	9378	broad.mit.edu	37	2	51254739	51254739	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:51254739C>A	ENST00000406316.2	-	2	2149	c.673G>T	c.(673-675)Ggc>Tgc	p.G225C	NRXN1_ENST00000401669.2_Missense_Mutation_p.G225C|NRXN1_ENST00000404971.1_Missense_Mutation_p.G225C|NRXN1_ENST00000405581.1_Missense_Mutation_p.G225C|NRXN1_ENST00000406859.3_Missense_Mutation_p.G225C|NRXN1_ENST00000405472.3_Missense_Mutation_p.G225C|NRXN1_ENST00000402717.3_Missense_Mutation_p.G225C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	225	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACACCCCGCCCTCGCCCTCC	0.716																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(673-675)Ggc>Tgc		neurexin 1							13.0	18.0	16.0					2																	51254739		2120	4214	6334	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254739C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.673G>T	2.37:g.51254739C>A	ENSP00000384311:p.Gly225Cys					NRXN1_ENST00000405472.3_Missense_Mutation_p.G225C|NRXN1_ENST00000401669.2_Missense_Mutation_p.G225C|NRXN1_ENST00000402717.3_Missense_Mutation_p.G225C|NRXN1_ENST00000406859.3_Missense_Mutation_p.G225C|NRXN1_ENST00000405581.1_Missense_Mutation_p.G225C|NRXN1_ENST00000406316.2_Missense_Mutation_p.G225C	p.G225C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	2012	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	225			EGF-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.673G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511197	0.64522	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.70631	0.49;0.49;-0.5;0.49;-0.11;0.49;0.49	5.69	4.79	0.61399	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.539313	0.12359	U	0.475804	T	0.77618	0.4157	L	0.45137	1.4	0.24696	N	0.993286	B;P;D	0.56968	0.435;0.531;0.978	P;B;P	0.57776	0.482;0.428;0.827	T	0.70059	-0.4976	10	0.59425	D	0.04	.	16.4493	0.83974	0.0:0.8686:0.1314:0.0	.	225;225;225	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	C	225	ENSP00000385142:G225C;ENSP00000384311:G225C;ENSP00000434015:G225C;ENSP00000385017:G225C;ENSP00000385434:G225C;ENSP00000385681:G225C;ENSP00000385310:G225C	ENSP00000385017:G225C	G	-	1	0	NRXN1	51108243	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	3.897000	0.56273	1.345000	0.45676	0.563000	0.77884	GGC		0.716	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			7	8	1	0	0.00198382	1	0.00200623	7	8				
DLEC1	9940	broad.mit.edu	37	3	38139340	38139340	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:38139340G>A	ENST00000308059.6	+	18	2692	c.2671G>A	c.(2671-2673)Gcc>Acc	p.A891T	DLEC1_ENST00000346219.3_Missense_Mutation_p.A891T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A891T					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGCTCCCAGCCACATGGCG	0.597																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2671-2673)Gcc>Acc		deleted in lung and esophageal cancer 1							57.0	64.0	62.0					3																	38139340		2143	4261	6404	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139340G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2671G>A	3.37:g.38139340G>A	ENSP00000308597:p.Ala891Thr					DLEC1_ENST00000452631.2_Missense_Mutation_p.A891T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A891T	p.A891T			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	18	2692	+			891						Missense_Mutation	SNP	ENST00000308059.6	37	c.2671G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823788	0.90873	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06933	3.25;3.24;3.47	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.29158	0.0725	M	0.76328	2.33	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.995;0.991	T	0.00912	-1.1517	9	.	.	.	-23.8952	16.1178	0.81321	0.0:0.0:1.0:0.0	.	891;891;891	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	891	ENSP00000308597:A891T;ENSP00000315914:A891T;ENSP00000410427:A891T	.	A	+	1	0	DLEC1	38114344	1.000000	0.71417	0.099000	0.21106	0.194000	0.23727	6.487000	0.73633	2.414000	0.81942	0.462000	0.41574	GCC		0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		37	0	0	0	0	1	0	37	0				
LPP	4026	broad.mit.edu	37	3	188590444	188590444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:188590444C>T	ENST00000312675.4	+	10	1849	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	LPP_ENST00000543006.1_Nonsense_Mutation_p.R535*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	535	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ATTTGCCCCGCGATGTTCTGT	0.527			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1603-1605)Cga>Tga		LIM domain containing preferred translocation partner in lipoma							133.0	124.0	127.0					3																	188590444		2203	4300	6503	SO:0001587	stop_gained	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188590444C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1603C>T	3.37:g.188590444C>T	ENSP00000318089:p.Arg535*					LPP_ENST00000543006.1_Nonsense_Mutation_p.R535*	p.R535*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	10	1849	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	535			LIM zinc-binding 3.		A1L4L6|D3DNV6|Q8NFX5	Nonsense_Mutation	SNP	ENST00000312675.4	37	c.1603C>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	40	8.255283	0.98729	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	12.1206	0.53889	0.2713:0.7287:0.0:0.0	.	.	.	.	X	535	.	ENSP00000318089:R535X	R	+	1	2	LPP	190073138	0.998000	0.40836	0.974000	0.42286	0.973000	0.67179	3.891000	0.56227	2.603000	0.88011	0.655000	0.94253	CGA		0.527	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		46	2	0	0	0	1	0	46	2				
RMDN2	151393	broad.mit.edu	37	2	38178932	38178932	+	Intron	SNP	A	A	G	rs554716987		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:38178932A>G	ENST00000406384.1	+	2	646				RMDN2_ENST00000402091.3_Missense_Mutation_p.T192A|RMDN2_ENST00000234195.3_Missense_Mutation_p.T192A|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000407257.1_Missense_Mutation_p.T192A|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											GAATTTTGAAACAAACACTAC	0.333																																						ENST00000407257.1																			0											c.(574-576)Aca>Gca		regulator of microtubule dynamics 2							93.0	99.0	97.0					2																	38178932		2203	4300	6503	SO:0001627	intron_variant	151393							g.chr2:38178932A>G	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+22060A>G	2.37:g.38178932A>G						RMDN2_ENST00000402091.3_Missense_Mutation_p.T192A|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.T192A	p.T192A							2	721	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.574A>G	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	A	8.950	0.968017	0.18659	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	T;T	0.61510	0.11;0.1	4.32	-4.02	0.04034	.	1.773640	0.03671	N	0.243989	T	0.36799	0.0980	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.31641	-0.9936	10	0.87932	D	0	-10.5214	4.0291	0.09701	0.282:0.0:0.4066:0.3114	.	192	Q96LZ7-2	.	A	192	ENSP00000385049:T192A;ENSP00000234195:T192A	ENSP00000234195:T192A	T	+	1	0	FAM82A1	38032436	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.405000	0.07196	-0.623000	0.05618	0.533000	0.62120	ACA		0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		39	39	0	0	0	1	0	39	39				
NSD1	64324	broad.mit.edu	37	5	176721178	176721178	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:176721178C>A	ENST00000439151.2	+	23	6854	c.6809C>A	c.(6808-6810)gCa>gAa	p.A2270E	NSD1_ENST00000354179.4_Missense_Mutation_p.A2001E|NSD1_ENST00000361032.4_Missense_Mutation_p.A2167E|NSD1_ENST00000347982.4_Missense_Mutation_p.A2001E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2270	Pro-rich.				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)			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)		AAAGCTCTGGCAGGGACTTGT	0.532			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				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						c.(6808-6810)gCa>gAa		nuclear receptor binding SET domain protein 1							94.0	99.0	98.0					5																	176721178		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann 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.chr5:176721178C>A	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.6809C>A	5.37:g.176721178C>A	ENSP00000395929:p.Ala2270Glu	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.A2001E|NSD1_ENST00000361032.4_Missense_Mutation_p.A2167E|NSD1_ENST00000354179.4_Missense_Mutation_p.A2001E	p.A2270E	NM_022455.4	NP_071900.2	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)	23	6854	+	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)	2270			Pro-rich.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6809C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004497	0.35320	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93076	-3.05;-3.05;-3.05;-3.16	5.41	4.46	0.54185	.	0.764676	0.12232	N	0.487342	D	0.85720	0.5762	N	0.14661	0.345	0.25453	N	0.987983	B;B	0.32245	0.013;0.361	B;B	0.24155	0.013;0.051	T	0.77531	-0.2553	10	0.41790	T	0.15	.	12.7969	0.57564	0.0:0.9144:0.0:0.0856	.	2001;2270	Q96L73-2;Q96L73	.;NSD1_HUMAN	E	2001;2270;2001;2167	ENSP00000346111:A2001E;ENSP00000395929:A2270E;ENSP00000343209:A2001E;ENSP00000354310:A2167E	ENSP00000343209:A2001E	A	+	2	0	NSD1	176653784	0.732000	0.28121	0.979000	0.43373	0.963000	0.63663	1.125000	0.31332	2.826000	0.97356	0.655000	0.94253	GCA		0.532	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		104	109	1	0	1.53058e-52	1	1.7017e-52	104	109				
ANK3	288	broad.mit.edu	37	10	61829384	61829384	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:61829384C>A	ENST00000280772.2	-	37	11446	c.11255G>T	c.(11254-11256)tGt>tTt	p.C3752F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3752					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAATCCCTGACAACTGGTCAT	0.398																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11254-11256)tGt>tTt		ankyrin 3, node of Ranvier (ankyrin G)							131.0	140.0	137.0					10																	61829384		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829384C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11255G>T	10.37:g.61829384C>A	ENSP00000280772:p.Cys3752Phe					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.C3752F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11446	-			3752					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.11255G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	6.393	0.440691	0.12104	.	.	ENSG00000151150	ENST00000280772	T	0.15718	2.4	5.3	3.4	0.38934	.	0.813546	0.10352	N	0.684994	T	0.08670	0.0215	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14896	-1.0456	10	0.48119	T	0.1	.	4.8845	0.13696	0.2663:0.5325:0.1292:0.072	.	3752	Q12955	ANK3_HUMAN	F	3752	ENSP00000280772:C3752F	ENSP00000280772:C3752F	C	-	2	0	ANK3	61499390	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.888000	0.39708	0.572000	0.29383	0.655000	0.94253	TGT		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		54	6	1	0	1.46156e-29	1	1.61493e-29	54	6				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		12	114						12	114	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46751419	46751421	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:46751419_46751421delAGA	ENST00000343304.6	-	4	1393_1395	c.1108_1110delTCT	c.(1108-1110)tctdel	p.S370del	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	370					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATGAGGATGTAGAAGAAGAGGCA	0.606																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1108-1110)del		leucine rich repeat containing 41				1,4,4261		0,0,1,2,0,2130						4.8	1.0			77	19,6,8225		1,0,17,3,0,4104	no	codingComplex	LRRC41	NM_006369.4		1,0,18,5,0,6234	A1A1,A1A2,A1R,A2A2,A2R,RR		0.303,0.1172,0.2397				20,10,12486				SO:0001651	inframe_deletion	10489							g.chr1:46751419_46751421delAGA	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1108_1110delTCT	1.37:g.46751425_46751427delAGA	ENSP00000343298:p.Ser370del					LRRC41_ENST00000472710.1_5'UTR	p.S370del	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1393_1395	-	Acute lymphoblastic leukemia(166;0.155)		370					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	In_Frame_Del	DEL	ENST00000343304.6	37	c.1108_1110delTCT	CCDS533.1																																																																																				0.606	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		26	122						26	122	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74797186	74797186	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:74797186delT	ENST00000370899.3	+	8	837	c.800delT	c.(799-801)gttfs	p.V267fs	FPGT-TNNI3K_ENST00000557284.2_Frame_Shift_Del_p.V280fs|TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.V166fs|TNNI3K_ENST00000370891.2_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000370895.1_Frame_Shift_Del_p.V267fs	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		CAAGATGCAGTTTTTTTCACT	0.398																																						ENST00000370895.1																			0											c.(799-801)gtfs									129.0	106.0	114.0					1																	74797186		2203	4300	6503	SO:0001589	frameshift_variant	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74797186delT			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.800delT	1.37:g.74797186delT	ENSP00000359936:p.Val267fs					TNNI3K_ENST00000370891.2_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000557284.1_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000370899.3_Frame_Shift_Del_p.V267fs|TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.V166fs	p.V267fs			Q59H18	TNI3K_HUMAN			8	835	+			166						Frame_Shift_Del	DEL	ENST00000370899.3	37	c.800delT																																																																																					0.398	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			12	13						12	13	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48925846	48925846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:48925846delT	ENST00000294954.7	-	9	795	c.774delA	c.(772-774)aaafs	p.K258fs	LHCGR_ENST00000403273.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000405626.1_Frame_Shift_Del_p.K258fs|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000401907.1_Frame_Shift_Del_p.K258fs	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	258					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTGATGGCAATTTTTTTAGAG	0.453																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(772-774)aafs		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						101.0	104.0	103.0					2																	48925846		2203	4300	6503	SO:0001589	frameshift_variant	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48925846delT		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.774delA	2.37:g.48925846delT	ENSP00000294954:p.Lys258fs					LHCGR_ENST00000405626.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000403273.1_Frame_Shift_Del_p.K258fs|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000344775.3_Intron	p.K258fs	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	795	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	258					Q14751|Q15996|Q9UEW9	Frame_Shift_Del	DEL	ENST00000294954.7	37	c.774delA	CCDS1842.1																																																																																				0.453	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		14	42						14	42	---	---	---	---
MED15P9	285103	broad.mit.edu	37	2	130893080	130893081	+	RNA	INS	-	-	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:130893080_130893081insA	ENST00000427638.1	+	0	541_542					NR_033903.1				mediator complex subunit 15 pseudogene 9																		gactccatctcaaaaaaaaaaa	0.564																																						ENST00000427638.1																			0																																																			0							g.chr2:130893080_130893081insA	BC036597		2q21.1	2014-05-06	2013-08-13	2013-08-13	ENSG00000223760	ENSG00000223760			44130	pseudogene	pseudogene			"""CCDC74B antisense RNA 1 (non-protein coding)"", ""CCDC74B antisense RNA 1"""	CCDC74B-AS1			Standard	NR_033903		Approved		uc021voa.1				2.37:g.130893091_130893091dupA								NR_033903.1						0	541_542	+									RNA	INS	ENST00000427638.1	37																																																																																						0.564	MED15P9-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000470767.1	NR_033903		2	4						2	4	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113951739	113951739	+	IGR	DEL	C	C	-	rs398052210|rs377674793|rs71633344	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:113951739delC	ENST00000482457.2	-	0	2939				RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGCCCCCTGCCCCCCCCCCA	0.652													|||unknown(HR)	2551	0.509385	0.6263	0.5	5008	,	,		15484	0.3006		0.5507	False		,,,				2504	0.5307				GBM(23;986 1114 21716)	ENST00000493033.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:113951739delC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332		3.37:g.113951739delC						RP11-553L6.2_ENST00000481773.1_RNA								0	160	+								Q6NSW4|Q6NT14	RNA	DEL	ENST00000482457.2	37		CCDS2979.1																																																																																				0.652	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		2	4						2	4	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124157839	124157840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:124157839_124157840insC	ENST00000240874.3	+	18	3304_3305	c.3147_3148insC	c.(3148-3150)cccfs	p.P1050fs	KALRN_ENST00000460856.1_Frame_Shift_Ins_p.P1041fs|KALRN_ENST00000360013.3_Frame_Shift_Ins_p.P1050fs	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1050					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACCATGTCATTCCCCTCATCAG	0.525																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(3145-3150)atccctfs		kalirin, RhoGEF kinase																																				SO:0001589	frameshift_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124157839_124157840insC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3151dupC	3.37:g.124157843_124157843dupC	ENSP00000240874:p.Pro1050fs					KALRN_ENST00000240874.3_Frame_Shift_Ins_p.IP1049fs|KALRN_ENST00000460856.1_Frame_Shift_Ins_p.IP1040fs	p.IP1049fs	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			18	3274_3275	+			1049					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Frame_Shift_Ins	INS	ENST00000240874.3	37	c.3147_3148insC	CCDS3027.1																																																																																				0.525	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		24	27						24	27	---	---	---	---
SULT1B1	27284	broad.mit.edu	37	4	70620807	70620807	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:70620807delT	ENST00000310613.3	-	2	426	c.129delA	c.(127-129)atafs	p.I43fs		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	43					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATAAGTGGCTATCACAATGT	0.408																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(127-129)atfs		sulfotransferase family, cytosolic, 1B, member 1							165.0	159.0	161.0					4																	70620807		2203	4300	6503	SO:0001589	frameshift_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620807delT	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.129delA	4.37:g.70620807delT	ENSP00000308770:p.Ile43fs						p.I43fs	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			2	426	-			43					O15497|Q96FI1|Q9UK34	Frame_Shift_Del	DEL	ENST00000310613.3	37	c.129delA	CCDS3530.1																																																																																				0.408	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		64	49						64	49	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	91936913	91936914	+	Frame_Shift_Ins	INS	-	-	A	rs201434379		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:91936913_91936914insA	ENST00000265742.3	+	3	805_806	c.429_430insA	c.(430-432)aaafs	p.K144fs		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	144							zinc ion binding (GO:0008270)	p.N146fs*12(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGTTGATAACAAAAAAAACAC	0.361																																						ENST00000265742.3																			2	Deletion - Frameshift(2)	p.N146fs*12(2)	large_intestine(2)	cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(427-432)aaaaaafs		ankyrin repeat and IBR domain containing 1																																				SO:0001589	frameshift_variant	54467						protein binding|zinc ion binding	g.chr7:91936913_91936914insA	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.437dupA	7.37:g.91936921_91936921dupA	ENSP00000265742:p.Lys144fs						p.KK143fs	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		3	805_806	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		143					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Frame_Shift_Ins	INS	ENST00000265742.3	37	c.429_430insA	CCDS47639.1																																																																																				0.361	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			17	46						17	46	---	---	---	---
MDFIC	29969	broad.mit.edu	37	7	114562639	114562641	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:114562639_114562641delGAG	ENST00000257724.3	+	1	431_433	c.168_170delGAG	c.(166-171)aagagg>aag	p.R62del	MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000423503.1_5'Flank|MDFIC_ENST00000393486.1_5'UTR					MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CGGGGCggaagaggaggaggagg	0.709											OREG0003787	type=REGULATORY REGION|Gene=MDFIC|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000257724.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(166-171)aag>aa		MyoD family inhibitor domain containing			,,	37,3219		1,35,1592					,,	1.4	0.4			5	121,6845		4,113,3366	no	coding,coding,utr-5	MDFIC	NM_199072.4,NM_001166346.1,NM_001166345.1	,,	5,148,4958	A1A1,A1R,RR		1.737,1.1364,1.5457	,,	,,		158,10064				SO:0001651	inframe_deletion	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114562639_114562641delGAG	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000257724.3:c.168_170delGAG	7.37:g.114562648_114562650delGAG	ENSP00000257724:p.Arg62del		OREG0003787	type=REGULATORY REGION|Gene=MDFIC|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1459	MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000393486.1_5'UTR	p.KR56del			Q9P1T7	MDFIC_HUMAN			1	431_433	+			0						In_Frame_Del	DEL	ENST00000257724.3	37	c.168_170delGAG	CCDS34737.1																																																																																				0.709	MDFIC-007	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366397.1	NM_199072		2	4						2	4	---	---	---	---
CNBD1	168975	broad.mit.edu	37	8	88608731	88608731	+	RNA	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:88608731delT	ENST00000517711.1	-	0	232				AF121898.3_ENST00000440763.2_RNA|AF121898.3_ENST00000518494.1_RNA																							aatttttgtatttttagtaga	0.547																																						ENST00000517711.1																			0																																																			0							g.chr8:88608731delT																													8.37:g.88608731delT						AF121898.3_ENST00000518494.1_RNA|AF121898.3_ENST00000440763.2_RNA								0	232	-									RNA	DEL	ENST00000517711.1	37																																																																																						0.547	AF121898.3-002	KNOWN	basic	antisense	antisense	OTTHUMT00000375298.1			2	4						2	4	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		9	64						9	64	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68398095	68398095	+	lincRNA	DEL	C	C	-	rs74487823		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:68398095delC	ENST00000417843.2	-	0	2660																											CCATGCTTAGCTTGGGTTTCT	0.353																																						ENST00000417843.2																			0																																																			0							g.chr9:68398095delC																													9.37:g.68398095delC														0	2660	-									RNA	DEL	ENST00000417843.2	37																																																																																						0.353	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			4	6						4	6	---	---	---	---
ARHGAP12	94134	broad.mit.edu	37	10	32197365	32197366	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:32197365_32197366insA	ENST00000344936.2	-	3	652_653	c.418_419insT	c.(418-420)tatfs	p.Y140fs	ARHGAP12_ENST00000311380.4_Frame_Shift_Ins_p.Y140fs|ARHGAP12_ENST00000375245.4_Frame_Shift_Ins_p.Y140fs|ARHGAP12_ENST00000396144.4_Frame_Shift_Ins_p.Y140fs|ARHGAP12_ENST00000375250.5_Frame_Shift_Ins_p.Y140fs	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	140					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ACCTTGATTATAACTGGGTCCA	0.421																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(418-420)taafs		Rho GTPase activating protein 12																																				SO:0001589	frameshift_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197365_32197366insA	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.419dupT	10.37:g.32197367_32197367dupA	ENSP00000345808:p.Tyr140fs					ARHGAP12_ENST00000311380.4_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000396144.4_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000344936.2_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000375245.4_Frame_Shift_Ins_p.*140fs	p.*140fs	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			3	659_660	-		Prostate(175;0.0199)	140					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Frame_Shift_Ins	INS	ENST00000344936.2	37	c.418_419insT	CCDS7170.1																																																																																				0.421	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			57	4						57	4	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62786091	62786091	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:62786091delA	ENST00000280377.5	+	18	2402	c.2344delA	c.(2344-2346)aaafs	p.K783fs	USP15_ENST00000393654.3_Frame_Shift_Del_p.K758fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.K754fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	783	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAAACCTCCTAAAAAACCCTT	0.303																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2344-2346)aafs		ubiquitin specific peptidase 15							35.0	39.0	38.0					12																	62786091		2200	4283	6483	SO:0001589	frameshift_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62786091delA	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2344delA	12.37:g.62786091delA	ENSP00000280377:p.Lys783fs					USP15_ENST00000393654.3_Frame_Shift_Del_p.K758fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.K754fs	p.K783fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	18	2402	+			783					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Del	DEL	ENST00000280377.5	37	c.2344delA	CCDS58251.1																																																																																				0.303	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		13	0						13	0	---	---	---	---
RHOF	54509	broad.mit.edu	37	12	122231493	122231494	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:122231493_122231494delCC	ENST00000267205.2	-	1	674_675	c.46_47delGG	c.(46-48)ggcfs	p.G16fs	RHOF_ENST00000537265.1_5'Flank|RHOF_ENST00000537171.1_Frame_Shift_Del_p.G16fs|AC084018.1_ENST00000539299.1_lincRNA|RHOF_ENST00000545544.1_Intron	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	16					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CTCCTTCCTGCCCGGACCGGGG	0.733																																						ENST00000267205.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(46-48)cfs		ras homolog family member F (in filopodia)																																				SO:0001589	frameshift_variant	54509				actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity	g.chr12:122231493_122231494delCC	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.46_47delGG	12.37:g.122231493_122231494delCC	ENSP00000267205:p.Gly16fs					RP11-347I19.3_ENST00000545544.1_RNA	p.G16fs	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)	1	674_675	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		16					Q8WVB1|Q9NXH6	Frame_Shift_Del	DEL	ENST00000267205.2	37	c.46_47delGG	CCDS9222.1																																																																																				0.733	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			2	4						2	4	---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562146	21562147	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:21562146_21562147delCT	ENST00000382592.4	-	4	2177_2178	c.1772_1773delAG	c.(1771-1773)gagfs	p.E591fs	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Frame_Shift_Del_p.E591fs	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGATGCGTGACTCTCTCTTCTC	0.515																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1771-1773)gfs		large tumor suppressor kinase 2																																				SO:0001589	frameshift_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562146_21562147delCT	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1772_1773delAG	13.37:g.21562152_21562153delCT	ENSP00000372035:p.Glu591fs					LATS2_ENST00000542899.1_Frame_Shift_Del_p.E591fs	p.E591fs	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2177_2178	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	591						Frame_Shift_Del	DEL	ENST00000382592.4	37	c.1772_1773delAG	CCDS9294.1																																																																																				0.515	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			89	105						89	105	---	---	---	---
RP11-146E13.4	0	broad.mit.edu	37	14	19858136	19858136	+	lincRNA	DEL	G	G	-	rs375888458		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:19858136delG	ENST00000548109.1	+	0	72																											gctcaatgttggggcaaagtg	0.413																																						ENST00000548109.1																			0																																																			0							g.chr14:19858136delG																													14.37:g.19858136delG														0	72	+									RNA	DEL	ENST00000548109.1	37																																																																																						0.413	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			2	4						2	4	---	---	---	---
AL132989.1	0	broad.mit.edu	37	14	58752231	58752231	+	5'Flank	DEL	T	T	-	rs74576640		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:58752231delT	ENST00000598233.1	+	0	0				RP11-349A22.5_ENST00000555037.1_RNA|RP11-349A22.5_ENST00000557412.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000557660.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000556400.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|RP11-349A22.5_ENST00000553657.1_RNA|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000551597.2_RNA																							GTACAGTGTCTTTTTTTGTAT	0.353																																						ENST00000554360.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr14:58752231delT																													14.37:g.58752231delT	Exception_encountered					RP11-349A22.5_ENST00000553657.1_RNA|RP11-349A22.5_ENST00000556400.1_RNA|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000557660.1_RNA		NR_029434.1						0	414	-									RNA	DEL	ENST00000598233.1	37																																																																																						0.353	AL132989.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				5	10						5	10	---	---	---	---
EXOC3L4	91828	broad.mit.edu	37	14	103568742	103568742	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:103568742delC	ENST00000380069.3	+	2	758	c.682delC	c.(682-684)cccfs	p.P229fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	229					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCACCCTTCTCCCCCCGACGA	0.771																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(682-684)ccfs		exocyst complex component 3-like 4							4.0	4.0	4.0					14																	103568742		1974	3925	5899	SO:0001589	frameshift_variant	91828							g.chr14:103568742delC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.682delC	14.37:g.103568742delC	ENSP00000369409:p.Pro229fs						p.P229fs	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			2	758	+			229					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.682delC	CCDS32163.1																																																																																				0.771	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		4	5						4	5	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		4	3						4	3	---	---	---	---
LTK	4058	broad.mit.edu	37	15	41796335	41796336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:41796335_41796336insG	ENST00000263800.6	-	20	2549_2550	c.2453_2454insC	c.(2452-2454)ccafs	p.P818fs	LTK_ENST00000355166.5_Frame_Shift_Ins_p.P757fs|LTK_ENST00000561619.1_Frame_Shift_Ins_p.P516fs|LTK_ENST00000453182.2_Frame_Shift_Ins_p.P688fs	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	818					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCTGGGGCTGTGGGGGTCTTAG	0.604										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(2452-2454)ccafs		leukocyte receptor tyrosine kinase																																				SO:0001589	frameshift_variant	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41796335_41796336insG	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2454dupC	15.37:g.41796340_41796340dupG	ENSP00000263800:p.Pro818fs	TSP Lung(18;0.14)				LTK_ENST00000355166.5_Frame_Shift_Ins_p.P757fs|LTK_ENST00000561619.1_Frame_Shift_Ins_p.P516fs|LTK_ENST00000453182.2_Frame_Shift_Ins_p.P688fs	p.P818fs	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	20	2549_2550	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	818					A6NNJ8|B4DL89|E9PFX4	Frame_Shift_Ins	INS	ENST00000263800.6	37	c.2453_2454insC	CCDS10077.1																																																																																				0.604	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			20	20						20	20	---	---	---	---
PTX4	390667	broad.mit.edu	37	16	1536186	1536186	+	Frame_Shift_Del	DEL	G	G	-	rs148668779		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:1536186delG	ENST00000447419.2	-	3	1216	c.1191delC	c.(1189-1191)cccfs	p.P397fs	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Frame_Shift_Del_p.P392fs			Q96A99	PTX4_HUMAN	pentraxin 4, long	397	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.G393fs*57(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGACCCTCCGGGGGGGATCT	0.667																																						ENST00000447419.2																			1	Deletion - Frameshift(1)	p.G393fs*57(1)	ovary(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(1189-1191)ccfs		pentraxin 4, long							29.0	31.0	30.0					16																	1536186		2199	4300	6499	SO:0001589	frameshift_variant	390667					extracellular region	metal ion binding	g.chr16:1536186delG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1191delC	16.37:g.1536186delG	ENSP00000445277:p.Pro397fs					PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Frame_Shift_Del_p.P392fs	p.P397fs			Q96A99	PTX4_HUMAN			3	1216	-			397			Pentaxin.			Frame_Shift_Del	DEL	ENST00000447419.2	37	c.1191delC																																																																																					0.667	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		30	47						30	47	---	---	---	---
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	lincRNA	INS	-	-	CCAGTGATGGTCACCT	rs200421189|rs71143515|rs377231404|rs145408521|rs140029302	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371														3288	0.65655	0.8434	0.5144	5008	,	,		21531	0.6052		0.5537	False		,,,				2504	0.6636					ENST00000564293.1																			0																																																			0							g.chr16:64770704_64770705insCCAGTGATGGTCACCT																													16.37:g.64770704_64770705insCCAGTGATGGTCACCT														0	453_454	+									RNA	INS	ENST00000564293.1	37																																																																																						0.371	RP11-439I14.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000422725.1			3	2						3	2	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11141533	11141534	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:11141533_11141534delTG	ENST00000429416.3	+	26	3791_3792	c.3510_3511delTG	c.(3508-3513)actgtgfs	p.V1171fs	SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000358026.2_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.V1171fs	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1171	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGCAGACACTGTGATCATTTT	0.599			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3508-3513)actgfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4																																				SO:0001589	frameshift_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141533_11141534delTG	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3510_3511delTG	19.37:g.11141535_11141536delTG	ENSP00000395654:p.Val1171fs					SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000429416.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.TV1170fs	p.TV1170fs	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			25	3794_3795	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1170			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Frame_Shift_Del	DEL	ENST00000429416.3	37	c.3510_3511delTG	CCDS12253.1																																																																																				0.599	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		9	1						9	1	---	---	---	---
MYBPC2	4606	broad.mit.edu	37	19	50963425	50963425	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:50963425delA	ENST00000357701.5	+	24	2971	c.2920delA	c.(2920-2922)aaafs	p.K975fs		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	975	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAAAGCAGACAAAAAAACCAT	0.592																																						ENST00000357701.5																			0				breast(1)	1						c.(2920-2922)aafs		myosin binding protein C, fast type							25.0	27.0	26.0					19																	50963425		1948	4125	6073	SO:0001589	frameshift_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50963425delA		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2920delA	19.37:g.50963425delA	ENSP00000350332:p.Lys975fs						p.K975fs	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	24	2971	+		all_neural(266;0.057)	975			Fibronectin type-III 3.		A1L4G9	Frame_Shift_Del	DEL	ENST00000357701.5	37	c.2920delA	CCDS46152.1																																																																																				0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		7	23						7	23	---	---	---	---
FPR3	2359	broad.mit.edu	37	19	52327267	52327267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:52327267delA	ENST00000339223.4	+	2	445	c.266delA	c.(265-267)gaafs	p.E89fs	FPR3_ENST00000595991.1_Frame_Shift_Del_p.E89fs	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	89					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCCATGAGAGAAAAATGGCCT	0.458																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(265-267)gafs		formyl peptide receptor 3							132.0	106.0	114.0					19																	52327267		2203	4300	6503	SO:0001589	frameshift_variant	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327267delA		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.266delA	19.37:g.52327267delA	ENSP00000341821:p.Glu89fs					FPR3_ENST00000595991.1_Frame_Shift_Del_p.E89fs	p.E89fs	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	445	+			89						Frame_Shift_Del	DEL	ENST00000339223.4	37	c.266delA	CCDS12841.1																																																																																				0.458	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		56	231						56	231	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11066363	11066363	+	RNA	DEL	T	T	-	rs143566439		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr21:11066363delT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		agaggttaaatttccttgttc	0.294																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11066363delT	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.11066363delT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.294	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
PFKL	5211	broad.mit.edu	37	21	45733884	45733885	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr21:45733884_45733885insTG	ENST00000349048.4	+	7	782_783	c.727_728insTG	c.(727-729)atgfs	p.M243fs	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Frame_Shift_Ins_p.M290fs	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	243	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGAGAACTTCATGTGTGAGAGG	0.668																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(868-870)gtgfs		phosphofructokinase, liver																																				SO:0001589	frameshift_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45733884_45733885insTG		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.732_733dupTG	21.37:g.45733889_45733890dupTG	ENSP00000269848:p.Met243fs					PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Frame_Shift_Ins_p.V243fs	p.V290fs			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	8	868_869	+			243					Q96A64|Q96IH4|Q9BR91	Frame_Shift_Ins	INS	ENST00000349048.4	37	c.868_869insTG	CCDS33582.1																																																																																				0.668	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			15	10						15	10	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18324556	18324556	+	Intron	DEL	C	C	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr22:18324556delC	ENST00000441493.2	-	20	3154				MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000383094.3_Frame_Shift_Del_p.A945fs|MICAL3_ENST00000207726.7_Frame_Shift_Del_p.A973fs|MICAL3_ENST00000414725.2_Frame_Shift_Del_p.A973fs	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ggccgtgtggcgggtGGGCGC	0.662																																						ENST00000414725.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2917-2919)ccfs		microtubule associated monooxygenase, calponin and LIM domain containing 3							3.0	4.0	4.0					22																	18324556		1356	3192	4548	SO:0001627	intron_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18324556delC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2801+31G>-	22.37:g.18324556delC						MICAL3_ENST00000383094.3_Frame_Shift_Del_p.A945fs|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000207726.7_Frame_Shift_Del_p.A973fs	p.A973fs			Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	20	2916	-		all_epithelial(15;0.198)	0			Glu-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	ENST00000441493.2	37	c.2917delG	CCDS46659.1																																																																																				0.662	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			2	4						2	4	---	---	---	---
YY2	404281	broad.mit.edu	37	X	21875706	21875707	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:21875706_21875707insA	ENST00000429584.2	+	1	1602_1603	c.1104_1105insA	c.(1105-1107)aaafs	p.K369fs	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	369	Mediates transcriptional repression.				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(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ATGTGAAGACCAAAAACAACCC	0.47																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(1102-1107)acaaaafs		YY2 transcription factor																																				SO:0001589	frameshift_variant	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875706_21875707insA	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.1109dupA	X.37:g.21875711_21875711dupA	ENSP00000389381:p.Lys369fs					MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	p.TK368fs	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1602_1603	+			368			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Frame_Shift_Ins	INS	ENST00000429584.2	37	c.1104_1105insA	CCDS14202.1																																																																																				0.470	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		117	165						117	165	---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112035202	112035202	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:112035202delT	ENST00000524145.1	-	7	1858	c.1784delA	c.(1783-1785)aagfs	p.K596fs	AMOT_ENST00000371962.1_Frame_Shift_Del_p.K364fs|AMOT_ENST00000371959.3_Frame_Shift_Del_p.K596fs|AMOT_ENST00000304758.1_Frame_Shift_Del_p.K187fs|AMOT_ENST00000371958.1_Frame_Shift_Del_p.K364fs			Q4VCS5	AMOT_HUMAN	angiomotin	596					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CACTTGCTTCTTTTTCAGCTG	0.473																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1783-1785)agfs		angiomotin							134.0	104.0	114.0					X																	112035202		2203	4300	6503	SO:0001589	frameshift_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112035202delT	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1784delA	X.37:g.112035202delT	ENSP00000429013:p.Lys596fs					AMOT_ENST00000371958.1_Frame_Shift_Del_p.K364fs|AMOT_ENST00000304758.1_Frame_Shift_Del_p.K187fs|AMOT_ENST00000524145.1_Frame_Shift_Del_p.K596fs|AMOT_ENST00000371962.1_Frame_Shift_Del_p.K364fs	p.K596fs	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			6	1783	-			596					Q504X5|Q9HD27|Q9UPT1	Frame_Shift_Del	DEL	ENST00000524145.1	37	c.1784delA	CCDS48154.1																																																																																				0.473	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		18	68						18	68	---	---	---	---
