#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
SEC31A	22872	broad.mit.edu	37	4	83763471	83763471	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:83763471G>C	ENST00000395310.2	-	22	2972	c.2790C>G	c.(2788-2790)caC>caG	p.H930Q	SEC31A_ENST00000505984.1_Missense_Mutation_p.H891Q|SEC31A_ENST00000348405.4_Missense_Mutation_p.H891Q|SEC31A_ENST00000443462.2_Missense_Mutation_p.H925Q|SEC31A_ENST00000355196.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000505472.1_Missense_Mutation_p.H961Q|SEC31A_ENST00000513858.1_Intron|SEC31A_ENST00000311785.7_Intron|SEC31A_ENST00000326950.5_Missense_Mutation_p.H891Q|SEC31A_ENST00000432794.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000448323.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000264405.5_Missense_Mutation_p.H694Q|SEC31A_ENST00000508502.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000509142.1_Intron|SEC31A_ENST00000500777.2_Intron	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	930	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AAGAGGCCTGGTGCTGTGCTG	0.552																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(2788-2790)caC>caG		SEC31 homolog A (S. cerevisiae)							95.0	77.0	83.0					4																	83763471		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83763471G>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2790C>G	4.37:g.83763471G>C	ENSP00000378721:p.His930Gln					SEC31A_ENST00000505472.1_Missense_Mutation_p.H961Q|SEC31A_ENST00000500777.2_Intron|SEC31A_ENST00000443462.2_Missense_Mutation_p.H925Q|SEC31A_ENST00000395310.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000355196.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000348405.4_Missense_Mutation_p.H891Q|SEC31A_ENST00000326950.5_Missense_Mutation_p.H891Q|SEC31A_ENST00000311785.7_Intron|SEC31A_ENST00000264405.5_Missense_Mutation_p.H694Q|SEC31A_ENST00000513858.1_Intron|SEC31A_ENST00000509142.1_Intron|SEC31A_ENST00000508502.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000505984.1_Missense_Mutation_p.H891Q|SEC31A_ENST00000448323.1_Missense_Mutation_p.H930Q	p.H930Q			O94979	SC31A_HUMAN			22	2953	-		Hepatocellular(203;0.114)	930			Interaction with PDCD6.|Pro-rich.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.2790C>G	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.300|5.300	0.240791|0.240791	0.10077|0.10077	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000395310;ENST00000443462;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000505472;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984|ENST00000503937	T;T;T;T;T;T;T;T;T;T;T|.	0.35973|.	1.47;2.54;2.52;2.44;2.54;1.47;1.28;2.53;2.54;3.38;2.44|.	5.83|5.83	3.91|3.91	0.45181|0.45181	.|.	0.336600|.	0.31797|.	N|.	0.007044|.	T|T	0.38852|0.38852	0.1056|0.1056	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;P;P;B;B;P;B|.	0.46621|.	0.167;0.553;0.61;0.256;0.203;0.881;0.24|.	B;B;B;B;B;B;B|.	0.39971|.	0.085;0.205;0.134;0.113;0.036;0.315;0.108|.	T|T	0.13045|0.13045	-1.0524|-1.0524	10|5	0.21014|.	T|.	0.42|.	-5.7809|-5.7809	7.5349|7.5349	0.27704|0.27704	0.1414:0.2124:0.6462:0.0|0.1414:0.2124:0.6462:0.0	.|.	925;891;891;930;930;694;930|.	B4DIW6;B7ZL00;O94979-4;O94979-2;O94979;O94979-7;O94979-8|.	.;.;.;.;SC31A_HUMAN;.;.|.	Q|S	891;930;925;930;930;891;961;930;930;694;891|80	ENSP00000337602:H891Q;ENSP00000378721:H930Q;ENSP00000408027:H925Q;ENSP00000407944:H930Q;ENSP00000400926:H930Q;ENSP00000325087:H891Q;ENSP00000421633:H961Q;ENSP00000424635:H930Q;ENSP00000347329:H930Q;ENSP00000264405:H694Q;ENSP00000424451:H891Q|.	ENSP00000264405:H694Q|.	H|T	-|-	3|2	2|0	SEC31A|SEC31A	83982495|83982495	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.795000|0.795000	0.44927|0.44927	3.581000|3.581000	0.53914|0.53914	1.190000|1.190000	0.43042|0.43042	0.563000|0.563000	0.77884|0.77884	CAC|ACC		0.552	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		10	16	0	0	0	0.335167	0	10	16				
FLG	2312	broad.mit.edu	37	1	152278733	152278733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152278733G>T	ENST00000368799.1	-	3	8664	c.8629C>A	c.(8629-8631)Caa>Aaa	p.Q2877K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2877	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTGATTGTCCCTGGACT	0.577									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8629-8631)Caa>Aaa		filaggrin							128.0	207.0	181.0					1																	152278733		2102	4296	6398	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278733G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8629C>A	1.37:g.152278733G>T	ENSP00000357789:p.Gln2877Lys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q2877K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8664	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2877			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8629C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046170	0.19748	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03330	3.97	3.37	-3.7	0.04437	.	.	.	.	.	T	0.01029	0.0034	M	0.65975	2.015	0.09310	N	1	B	0.21452	0.056	B	0.15870	0.014	T	0.50056	-0.8872	9	0.06625	T	0.88	.	8.6919	0.34271	0.1006:0.5507:0.3487:0.0	.	2877	P20930	FILA_HUMAN	K	2877;139	ENSP00000357789:Q2877K	ENSP00000357786:Q139K	Q	-	1	0	FLG	150545357	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.555000	0.05999	-1.210000	0.02627	-2.382000	0.00231	CAA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		63	263	1	0	1.07576e-66	0.870114	1.21685e-66	63	263				
COG5	10466	broad.mit.edu	37	7	107167729	107167729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr7:107167729C>T	ENST00000347053.3	-	6	634	c.584G>A	c.(583-585)gGg>gAg	p.G195E	COG5_ENST00000393603.2_Missense_Mutation_p.G195E|COG5_ENST00000297135.3_Missense_Mutation_p.G195E|COG5_ENST00000475638.2_5'UTR	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	195					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCTACTTCCCCCTTGCAGTTG	0.338																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(583-585)gGg>gAg		component of oligomeric golgi complex 5							101.0	93.0	95.0					7																	107167729		2203	4300	6503	SO:0001583	missense	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107167729C>T	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.584G>A	7.37:g.107167729C>T	ENSP00000334703:p.Gly195Glu					COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.G195E|COG5_ENST00000297135.3_Missense_Mutation_p.G195E	p.G195E	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			6	855	-			195					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.584G>A	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227669	0.95173	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.19105	2.18;2.17;2.17	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.956;0.967	T	0.21381	-1.0247	10	0.15499	T	0.54	-10.1045	19.6818	0.95967	0.0:1.0:0.0:0.0	.	195;195	Q9UP83;Q9UP83-2	COG5_HUMAN;.	E	195	ENSP00000334703:G195E;ENSP00000297135:G195E;ENSP00000377228:G195E	ENSP00000297135:G195E	G	-	2	0	COG5	106954965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.677000	0.68142	2.724000	0.93272	0.650000	0.86243	GGG		0.338	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			16	15	0	0	0	0.539581	0	16	15				
KDR	3791	broad.mit.edu	37	4	55956204	55956204	+	Silent	SNP	C	C	T	rs147630437		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:55956204C>T	ENST00000263923.4	-	23	3406	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1037	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of 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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3109-3111)tcG>tcA		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)	C		0,4406		0,0,2203	98.0	95.0	96.0		3111	-2.3	1.0	4	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDR	NM_002253.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1037/1357	55956204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55956204C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3111G>A	4.37:g.55956204C>T		TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.S1037S	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		23	3406	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1037			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.3111G>A	CCDS3497.1																																																																																				0.428	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			27	49	0	0	0	0.693898	0	27	49				
CXorf40B	541578	broad.mit.edu	37	X	149100914	149100914	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:149100914T>A	ENST00000370406.3	-	5	1153	c.325A>T	c.(325-327)Aat>Tat	p.N109Y	CXorf40B_ENST00000370404.1_Missense_Mutation_p.N109Y|CXorf40B_ENST00000462691.1_Missense_Mutation_p.N109Y|CXorf40B_ENST00000355203.2_Missense_Mutation_p.N109Y|XX-FW81066F1.2_ENST00000457775.1_RNA			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	109										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTTGATTTTCTAGTTCC	0.473																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(325-327)Aat>Tat		chromosome X open reading frame 40B							203.0	175.0	185.0					X																	149100914		2200	4299	6499	SO:0001583	missense	541578							g.chrX:149100914T>A	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.325A>T	X.37:g.149100914T>A	ENSP00000359434:p.Asn109Tyr					CXorf40B_ENST00000355203.2_Missense_Mutation_p.N109Y|CXorf40B_ENST00000370404.1_Missense_Mutation_p.N109Y|CXorf40B_ENST00000462691.1_Missense_Mutation_p.N109Y	p.N109Y			Q96DE9	CX04B_HUMAN			5	1153	-	Acute lymphoblastic leukemia(192;6.56e-05)		109						Missense_Mutation	SNP	ENST00000370406.3	37	c.325A>T	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	t	10.26	1.300080	0.23650	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	3.22	3.22	0.36961	PUA-like domain (1);	0.556675	0.19535	N	0.111935	D	0.92001	0.7466	M	0.72118	2.19	0.28154	N	0.929277	P	0.50528	0.936	P	0.48141	0.568	D	0.86980	0.2103	10	0.72032	D	0.01	-4.9379	10.4696	0.44629	0.0:0.0:0.0:1.0	.	109	Q96DE9	CX04B_HUMAN	Y	109	ENSP00000417546:N109Y;ENSP00000359434:N109Y;ENSP00000347339:N109Y;ENSP00000359432:N109Y	ENSP00000347339:N109Y	N	-	1	0	CXorf40B	148851572	0.982000	0.34865	0.003000	0.11579	0.008000	0.06430	2.202000	0.42743	1.093000	0.41377	0.242000	0.17961	AAT		0.473	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		39	65	0	0	0	0.812448	0	39	65				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	50	0	0	0	0.184627	0	4	50				
ACSL4	2182	broad.mit.edu	37	X	108921235	108921235	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:108921235C>T	ENST00000469796.2	-	8	1431	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ACSL4_ENST00000348502.6_Silent_p.P304P|ACSL4_ENST00000340800.2_Silent_p.P345P			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	345					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.P345P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AGAGTGTAAGCGGAGAAGAAT	0.428																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			1	Substitution - coding silent(1)	p.P345P(1)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1033-1035)ccG>ccA		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						142.0	126.0	131.0					X																	108921235		2203	4300	6503	SO:0001819	synonymous_variant	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108921235C>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1035G>A	X.37:g.108921235C>T						ACSL4_ENST00000348502.6_Silent_p.P304P|ACSL4_ENST00000469796.2_Silent_p.P345P	p.P345P	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			9	1539	-			345					D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	c.1035G>A	CCDS14548.1																																																																																				0.428	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		55	83	0	0	0	0.870114	0	55	83				
MAGEL2	54551	broad.mit.edu	37	15	23889301	23889301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:23889301C>T	ENST00000532292.1	-	1	1874	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	477					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AACCTCAGGACAAGCATCTTG	0.522																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1780-1782)Gtc>Atc		MAGE-like 2							62.0	63.0	63.0					15																	23889301		1939	4144	6083	SO:0001583	missense	54551							g.chr15:23889301C>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1780G>A	15.37:g.23889301C>T	ENSP00000433433:p.Val594Ile						p.V594I	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1874	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1780G>A																																																																																					0.522	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		19	34	0	0	0	0.557998	0	19	34				
ZNF536	9745	broad.mit.edu	37	19	30935048	30935048	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:30935048C>T	ENST00000355537.3	+	2	726	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	193					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)			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)					GGCGTGTGCGCGAGGAGAACC	0.692																																						ENST00000355537.3																			0				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.(577-579)cgC>cgT		zinc finger protein 536							17.0	13.0	15.0					19																	30935048		2193	4290	6483	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935048C>T		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.579C>T	19.37:g.30935048C>T							p.R193R	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	726	+	Esophageal squamous(110;0.0834)		193					A2RU18	Silent	SNP	ENST00000355537.3	37	c.579C>T	CCDS32984.1																																																																																				0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	6	0	0	0	0.150653	0	4	6				
MYO5A	4644	broad.mit.edu	37	15	52622645	52622645	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:52622645C>T	ENST00000399231.3	-	34	4628	c.4385G>A	c.(4384-4386)cGa>cAa	p.R1462Q	MYO5A_ENST00000356338.6_Missense_Mutation_p.R1435Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1487Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1460Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1459Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1462					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTGACTGGTCGGATGGGTTC	0.418																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(4384-4386)cGa>cAa		myosin VA (heavy chain 12, myoxin)							175.0	163.0	167.0					15																	52622645		1856	4084	5940	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52622645C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4385G>A	15.37:g.52622645C>T	ENSP00000382177:p.Arg1462Gln					MYO5A_ENST00000358212.6_Missense_Mutation_p.R1487Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1459Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1460Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1435Q	p.R1462Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	34	4628	-			1462					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.4385G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609371	0.66558	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.45	5.45	0.79879	.	0.169778	0.53938	D	0.000049	T	0.35219	0.0924	L	0.57536	1.79	0.53005	D	0.999969	D;B;P	0.55800	0.973;0.019;0.683	P;B;B	0.52710	0.707;0.01;0.072	T	0.03463	-1.1034	10	0.16420	T	0.52	.	13.5614	0.61790	0.0:0.9252:0.0:0.0748	.	192;1462;1435	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	Q	1462;969;1459;1435;1487;1065;1460	ENSP00000382177:R1462Q;ENSP00000382179:R1459Q;ENSP00000348693:R1435Q;ENSP00000350945:R1487Q;ENSP00000451109:R1460Q	ENSP00000348693:R1435Q	R	-	2	0	MYO5A	50409937	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.450000	0.35134	2.559000	0.86315	0.557000	0.71058	CGA		0.418	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		56	96	0	0	0	0.870114	0	56	96				
DSG2	1829	broad.mit.edu	37	18	29099849	29099849	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr18:29099849C>T	ENST00000261590.8	+	3	374	c.165C>T	c.(163-165)ccC>ccT	p.P55P	DSG2_ENST00000585206.1_Silent_p.P55P	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCACCGCCCCCGTGGCTCTTC	0.443																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(163-165)ccC>ccT		desmoglein 2							69.0	71.0	70.0					18																	29099849		1876	4111	5987	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099849C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.165C>T	18.37:g.29099849C>T						DSG2_ENST00000585206.1_Silent_p.P55P	p.P55P	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	374	+			55			Cadherin 1.		Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.165C>T	CCDS42423.1																																																																																				0.443	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		31	40	0	0	0	0.750413	0	31	40				
ZNF429	353088	broad.mit.edu	37	19	21720518	21720518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:21720518C>A	ENST00000358491.4	+	4	1871	c.1663C>A	c.(1663-1665)Cat>Aat	p.H555N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	555					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(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTTACTCAACATAAGAAAAT	0.353																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1663-1665)Cat>Aat		zinc finger protein 429							43.0	48.0	46.0					19																	21720518		2125	4265	6390	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720518C>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1663C>A	19.37:g.21720518C>A	ENSP00000351280:p.His555Asn					ZNF429_ENST00000597078.1_Intron	p.H555N	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1871	+			555					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1663C>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	14.16	2.452417	0.43531	.	.	ENSG00000197013	ENST00000358491	D	0.86865	-2.18	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94703	0.8291	H	0.96691	3.865	0.33209	D	0.553162	D	0.89917	1.0	D	0.91635	0.999	D	0.93418	0.6774	9	0.87932	D	0	.	8.5632	0.33523	0.0:1.0:0.0:0.0	.	555	Q86V71	ZN429_HUMAN	N	555	ENSP00000351280:H555N	ENSP00000351280:H555N	H	+	1	0	ZNF429	21512358	0.863000	0.29885	0.058000	0.19502	0.058000	0.15608	3.561000	0.53770	0.293000	0.22520	0.298000	0.19748	CAT		0.353	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		14	42	1	0	1.3612e-06	0.479597	1.46755e-06	14	42				
GMPR2	51292	broad.mit.edu	37	14	24707610	24707610	+	Splice_Site	SNP	A	A	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr14:24707610A>T	ENST00000355299.4	+	9	1317	c.856A>T	c.(856-858)Aga>Tga	p.R286*	GMPR2_ENST00000559104.1_Splice_Site_p.R271*|GMPR2_ENST00000399440.2_Splice_Site_p.R286*|GMPR2_ENST00000559836.1_Splice_Site_p.R286*|GMPR2_ENST00000348719.7_Missense_Mutation_p.R286W|GMPR2_ENST00000420554.2_Splice_Site_p.R304*|GMPR2_ENST00000559910.1_Splice_Site_p.R253*|GMPR2_ENST00000456667.3_Splice_Site_p.R258*|GMPR2_ENST00000557854.1_Missense_Mutation_p.R304W	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	286	GMP binding.				GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GGCTGAGTACAGGTATGTGTG	0.512																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(910-912)Agg>Tgg		guanosine monophosphate reductase 2							93.0	98.0	97.0					14																	24707610		2041	4201	6242	SO:0001630	splice_region_variant	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24707610A>T		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.857+1A>T	14.37:g.24707610A>T						GMPR2_ENST00000559836.1_Splice_Site_p.R286_splice|GMPR2_ENST00000559104.1_Splice_Site_p.R271_splice|GMPR2_ENST00000399440.2_Splice_Site_p.R286_splice|GMPR2_ENST00000559910.1_Splice_Site_p.R253_splice|GMPR2_ENST00000420554.2_Splice_Site_p.R304_splice|GMPR2_ENST00000348719.7_Missense_Mutation_p.R286W|GMPR2_ENST00000456667.3_Splice_Site_p.R258_splice|GMPR2_ENST00000355299.4_Splice_Site_p.R286_splice	p.R304W			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	8	1187	+			286					D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	c.910A>T	CCDS41935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.046371|4.046371	0.75846|0.75846	.|.	.|.	ENSG00000100938|ENSG00000100938	ENST00000348719|ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000456667	T|.	0.25085|.	1.82|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.34542|.	0.0901|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|.	0.25847|.	-1.0120|.	9|.	0.72032|0.02654	D|T	0.01|1	.|.	12.1849|12.1849	0.54231|0.54231	0.8576:0.1424:0.0:0.0|0.8576:0.1424:0.0:0.0	.|.	286|.	Q6PKC0|.	.|.	W|X	286|286;286;304;286;258	ENSP00000334409:R286W|.	ENSP00000334409:R286W|ENSP00000347449:R286X	R|R	+|+	1|1	2|2	GMPR2|GMPR2	23777450|23777450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.803000|0.803000	0.45373|0.45373	7.209000|7.209000	0.77916|0.77916	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AGG|AGA		0.512	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	Nonsense_Mutation	3	40	0	0	0	0.150653	0	3	40				
IST1	9798	broad.mit.edu	37	16	71958718	71958718	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr16:71958718T>C	ENST00000378799.6	+	9	1255	c.899T>C	c.(898-900)gTt>gCt	p.V300A	IST1_ENST00000538850.1_Missense_Mutation_p.V152A|IST1_ENST00000538565.1_3'UTR|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000535424.1_Missense_Mutation_p.V313A|IST1_ENST00000329908.8_Silent_p.L299L|IST1_ENST00000541571.2_Missense_Mutation_p.V300A|IST1_ENST00000606369.1_Missense_Mutation_p.V152A|IST1_ENST00000378798.5_Missense_Mutation_p.V269A|IST1_ENST00000544564.1_Missense_Mutation_p.V300A			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	298	Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										GCACAGATTGTTGGTGAGTAG	0.418																																						ENST00000378799.6																			0											c.(898-900)gTt>gCt		increased sodium tolerance 1 homolog (yeast)							122.0	108.0	113.0					16																	71958718		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71958718T>C	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.899T>C	16.37:g.71958718T>C	ENSP00000368076:p.Val300Ala					IST1_ENST00000538565.1_3'UTR|IST1_ENST00000535424.1_Missense_Mutation_p.V313A|IST1_ENST00000544564.1_Missense_Mutation_p.V300A|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.V300A|IST1_ENST00000606369.1_Missense_Mutation_p.V152A|IST1_ENST00000538850.1_Missense_Mutation_p.V152A|IST1_ENST00000329908.8_Silent_p.L299L|IST1_ENST00000378798.5_Missense_Mutation_p.V269A	p.V300A	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN			9	1255	+			298			Interaction with VTA1.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.899T>C	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	T	2.242	-0.373646	0.05034	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000538963;ENST00000538850;ENST00000378798	.	.	.	5.94	3.62	0.41486	.	0.515127	0.21532	N	0.073036	T	0.23451	0.0567	.	.	.	0.32852	D	0.506802	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24799	-1.0150	8	0.08599	T	0.76	-1.5232	5.2026	0.15273	0.0:0.1562:0.1526:0.6912	.	269;313	P53990-2;A8KAH5	.;.	A	313;300;289;152;269	.	ENSP00000368075:V269A	V	+	2	0	KIAA0174	70516219	1.000000	0.71417	0.879000	0.34478	0.768000	0.43524	1.935000	0.40173	0.454000	0.26884	0.519000	0.50382	GTT		0.418	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		20	9	0	0	0	0.608945	0	20	9				
CLASRP	11129	broad.mit.edu	37	19	45572375	45572375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:45572375A>G	ENST00000221455.3	+	17	1918	c.1820A>G	c.(1819-1821)gAg>gGg	p.E607G	CLASRP_ENST00000391953.4_Missense_Mutation_p.E545G|CLASRP_ENST00000544944.2_Missense_Mutation_p.E588G	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	607	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CAGGAGCATGAGCGGCAGGTG	0.602																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1762-1764)gAg>gGg		CLK4-associating serine/arginine rich protein							114.0	127.0	122.0					19																	45572375		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45572375A>G	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1820A>G	19.37:g.45572375A>G	ENSP00000221455:p.Glu607Gly					CLASRP_ENST00000391953.4_Missense_Mutation_p.E545G|CLASRP_ENST00000221455.3_Missense_Mutation_p.E607G	p.E588G			Q8N2M8	CLASR_HUMAN			15	2455	+			607			Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.1763A>G	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691149	0.88735	.	.	ENSG00000104859	ENST00000221455;ENST00000391953;ENST00000544944	T;T;T	0.53640	1.95;0.61;1.36	5.16	5.16	0.70880	.	0.000000	0.36555	U	0.002537	T	0.46347	0.1388	L	0.43923	1.385	0.39333	D	0.965448	D;P;P	0.54964	0.969;0.939;0.635	P;B;B	0.47744	0.556;0.402;0.084	T	0.52895	-0.8514	10	0.72032	D	0.01	-22.9701	11.3208	0.49421	1.0:0.0:0.0:0.0	.	545;588;607	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	G	607;545;588	ENSP00000221455:E607G;ENSP00000375815:E545G;ENSP00000438702:E588G	ENSP00000221455:E607G	E	+	2	0	CLASRP	50264215	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.629000	0.61290	2.185000	0.69588	0.454000	0.30748	GAG		0.602	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		3	99	0	0	0	0.115264	0	3	99				
UCKL1	54963	broad.mit.edu	37	20	62577859	62577859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr20:62577859C>T	ENST00000354216.6	-	2	293	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	UCKL1_ENST00000369908.5_Missense_Mutation_p.R69Q|UCKL1_ENST00000358711.3_Missense_Mutation_p.R84Q|UCKL1_ENST00000369892.3_Missense_Mutation_p.R84Q|UCKL1_ENST00000492660.1_5'UTR	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	84					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGGCGGCCGCCCGGCGGT	0.677																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(205-207)cGg>cAg		uridine-cytidine kinase 1-like 1							60.0	55.0	57.0					20																	62577859		2202	4294	6496	SO:0001583	missense	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62577859C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.251G>A	20.37:g.62577859C>T	ENSP00000346155:p.Arg84Gln					UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Missense_Mutation_p.R84Q|UCKL1_ENST00000354216.6_Missense_Mutation_p.R84Q|UCKL1_ENST00000369892.3_Missense_Mutation_p.R84Q	p.R69Q	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			2	505	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		84					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	c.206G>A	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917149	0.73098	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908;ENST00000418992	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.78898	0.4356	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.77004	0.989;0.727	T	0.82022	-0.0663	9	0.62326	D	0.03	-36.5592	15.4917	0.75611	0.0:1.0:0.0:0.0	.	69;84	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	Q	84;84;84;69;69	.	ENSP00000346155:R84Q	R	-	2	0	UCKL1	62048303	1.000000	0.71417	0.975000	0.42487	0.005000	0.04900	7.330000	0.79181	2.063000	0.61619	0.313000	0.20887	CGG		0.677	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		17	14	0	0	0	0.520397	0	17	14				
CCDC159	126075	broad.mit.edu	37	19	11462650	11462650	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:11462650G>A	ENST00000588790.1	+	8	937		c.e8+1		CCDC159_ENST00000458408.1_Splice_Site			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159											endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGAAGCTCCGTGAGTTCCTG	0.612																																						ENST00000588790.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.e8+1		coiled-coil domain containing 159							52.0	58.0	56.0					19																	11462650		1997	4146	6143	SO:0001630	splice_region_variant	126075							g.chr19:11462650G>A	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.490+1G>A	19.37:g.11462650G>A						CCDC159_ENST00000458408.1_Splice_Site				P0C7I6	CC159_HUMAN			8	937	+								B4DEG3|B4DWR8|B4E133|B7ZAM4	Splice_Site	SNP	ENST00000588790.1	37		CCDS45976.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273022	0.23221	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.236	0.65927	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC159	11323650	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	4.574000	0.60900	2.073000	0.62155	0.555000	0.69702	.		0.612	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503	Intron	8	11	0	0	0	0.307466	0	8	11				
POTEF	728378	broad.mit.edu	37	2	130832726	130832726	+	Silent	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:130832726G>A	ENST00000409914.2	-	17	2718	c.2319C>T	c.(2317-2319)caC>caT	p.H773H	POTEF_ENST00000357462.5_Silent_p.H773H	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	773	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGATGATGCCGTGTTCCATGG	0.582																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(2317-2319)caC>caT		POTE ankyrin domain family, member F							51.0	51.0	51.0					2																	130832726		2202	4282	6484	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130832726G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2319C>T	2.37:g.130832726G>A						POTEF_ENST00000409914.2_Silent_p.H773H	p.H773H			A5A3E0	POTEF_HUMAN			15	2412	-			773			Actin-like.		A6NC34	Silent	SNP	ENST00000409914.2	37	c.2319C>T	CCDS46409.1																																																																																				0.582	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		37	89	0	0	0	0.834066	0	37	89				
SLC16A5	9121	broad.mit.edu	37	17	73096729	73096729	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:73096729C>G	ENST00000450736.2	+	4	1386	c.971C>G	c.(970-972)gCa>gGa	p.A324G	SLC16A5_ENST00000538213.2_Missense_Mutation_p.A364G|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A324G|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A324G			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	324					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTGTGTGCGGCATCAGGTGAC	0.617																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(970-972)gCa>gGa		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						528.0	459.0	483.0					17																	73096729		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096729C>G	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.971C>G	17.37:g.73096729C>G	ENSP00000390564:p.Ala324Gly					SLC16A5_ENST00000538213.2_Missense_Mutation_p.A364G|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A324G|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A324G	p.A324G			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1386	+	all_lung(278;0.226)		324					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.971C>G	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756560	0.31137	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.42513	0.97;0.97;0.97	4.72	-5.38	0.02673	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.644621	0.15354	N	0.266816	T	0.37758	0.1015	L	0.29908	0.895	0.09310	N	1	P;P	0.48407	0.822;0.91	P;P	0.51657	0.596;0.676	T	0.47861	-0.9084	10	0.62326	D	0.03	.	14.3245	0.66509	0.0:0.2305:0.0:0.7695	.	364;324	B4E288;O15375	.;MOT6_HUMAN	G	324;324;364	ENSP00000330141:A324G;ENSP00000390564:A324G;ENSP00000440212:A364G	ENSP00000330141:A324G	A	+	2	0	SLC16A5	70608324	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.062000	0.14389	-0.936000	0.03723	-0.367000	0.07326	GCA		0.617	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		284	496	0	0	0	0.870114	0	284	496				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	32	0	0	0	0.150653	0	3	32				
NF1	4763	broad.mit.edu	37	17	29497016	29497016	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29497016G>A	ENST00000358273.4	+	5	969		c.e5+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCTGAAGGGTAAGTTTAAA	0.289			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD000950|CS000893|CS072269	NF1	D|S		c.e5+1		neurofibromin 1							55.0	56.0	56.0					17																	29497016		2203	4296	6499	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29497016G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.586+1G>A	17.37:g.29497016G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	5	969	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950091	0.73787	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.59	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4671	0.67492	0.0708:0.0:0.9292:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26521142	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.518000	0.90559	1.382000	0.46385	0.591000	0.81541	.		0.289	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	14	34	0	0	0	0.435327	0	14	34				
GPR75	10936	broad.mit.edu	37	2	54081969	54081969	+	De_novo_Start_InFrame	SNP	A	A	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:54081969A>C	ENST00000394705.2	-	0	195				GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75						chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACAGATGAGCAATATGTGACA	0.438																																						ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18								G protein-coupled receptor 75																																						10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081969A>C	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280		2.37:g.54081969A>C						ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron		NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		0	195	-								B2RC02|Q6NWR2	Translation_Start_Site	SNP	ENST00000394705.2	37		CCDS1849.1																																																																																				0.438	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			11	20	0	0	0	0.435327	0	11	20				
NCKAP1L	3071	broad.mit.edu	37	12	54902315	54902315	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr12:54902315G>A	ENST00000293373.6	+	5	585	c.506G>A	c.(505-507)gGt>gAt	p.G169D	NCKAP1L_ENST00000545638.2_Splice_Site_p.G119D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	169					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATGGGCATGGGTGAGTTAAG	0.423																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.e5+1		NCK-associated protein 1-like							218.0	207.0	211.0					12																	54902315		2203	4300	6503	SO:0001630	splice_region_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54902315G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.506+1G>A	12.37:g.54902315G>A						NCKAP1L_ENST00000545638.2_Splice_Site_p.G119_splice	p.G169_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			5	585	+			169					B4DUT5|Q52LW0	Splice_Site	SNP	ENST00000293373.6	37	c.506_splice	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242675	0.58995	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.29655	1.56;1.56	5.72	4.82	0.62117	.	0.201788	0.49305	D	0.000143	T	0.20210	0.0486	N	0.08118	0	0.80722	D	1	B	0.21147	0.052	B	0.30179	0.112	T	0.05699	-1.0869	10	0.40728	T	0.16	-0.5203	14.5708	0.68210	0.0:0.1471:0.8529:0.0	.	169	P55160	NCKPL_HUMAN	D	169;119	ENSP00000293373:G169D;ENSP00000445596:G119D	ENSP00000293373:G169D	G	+	2	0	NCKAP1L	53188582	1.000000	0.71417	0.919000	0.36401	0.847000	0.48162	6.085000	0.71343	1.393000	0.46605	0.655000	0.94253	GGT		0.423	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	Missense_Mutation	67	134	0	0	0	0.870114	0	67	134				
OBSCN	84033	broad.mit.edu	37	1	228486408	228486408	+	Intron	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:228486408C>T	ENST00000422127.1	+	43	11703				OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000570156.2_Silent_p.L4400L|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.L1090L	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)				CGGCCACGCTCACTGTCAGGG	0.547																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13198-13200)ctC>ctT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							96.0	80.0	85.0					1																	228486408		876	1991	2867	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.chr1:228486408C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+3664C>T	1.37:g.228486408C>T						OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.L1090L|RP5-1139B12.4_ENST00000602778.1_RNA	p.L4400L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			49	13274	+		Prostate(94;0.0405)	3443			Ig-like 45.|Poly-Leu.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.13200C>T	CCDS58065.1																																																																																				0.547	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		24	28	0	0	0	0.639603	0	24	28				
SPTBN4	57731	broad.mit.edu	37	19	40998962	40998962	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:40998962G>A	ENST00000352632.3	+	5	673		c.e5+1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACAGCTGGGTAAGCACCCC	0.522																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.e5+1		spectrin, beta, non-erythrocytic 4							96.0	75.0	82.0					19																	40998962		2203	4300	6503	SO:0001630	splice_region_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40998962G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.587+1G>A	19.37:g.40998962G>A						SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site				Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		5	673	+								E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Splice_Site	SNP	ENST00000352632.3	37		CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173093	0.57584	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4617	0.67453	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN4	45690802	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	9.567000	0.98161	1.927000	0.55829	0.281000	0.19383	.		0.522	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		Intron	5	18	0	0	0	0.217242	0	5	18				
GRM6	2916	broad.mit.edu	37	5	178418951	178418951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418951C>T	ENST00000517717.1	-	3	676	c.638G>A	c.(637-639)tGg>tAg	p.W213*	GRM6_ENST00000231188.5_Nonsense_Mutation_p.W213*|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	213					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CACATAGTTCCATCCCAGTGC	0.627																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(637-639)tGg>tAg		glutamate receptor, metabotropic 6							79.0	66.0	71.0					5																	178418951		2203	4300	6503	SO:0001587	stop_gained	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418951C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.638G>A	5.37:g.178418951C>T	ENSP00000430767:p.Trp213*					GRM6_ENST00000517717.1_Nonsense_Mutation_p.W213*	p.W213*	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	2	816	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	213						Nonsense_Mutation	SNP	ENST00000517717.1	37	c.638G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	39	7.583597	0.98371	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2396	0.87009	0.0:1.0:0.0:0.0	.	.	.	.	X	161;213;213	.	ENSP00000231188:W213X	W	-	2	0	GRM6	178351557	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	7.658000	0.83755	2.746000	0.94184	0.655000	0.94253	TGG		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			9	20	0	0	0	0.335167	0	9	20				
PTCHD4	442213	broad.mit.edu	37	6	47846810	47846810	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:47846810A>C	ENST00000339488.4	-	3	1803	c.1770T>G	c.(1768-1770)aaT>aaG	p.N590K		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	590						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AGATGATATCATTTCGAAAAT	0.423																																						ENST00000339488.4																			0											c.(1768-1770)aaT>aaG		patched domain containing 4							61.0	62.0	62.0					6																	47846810		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846810A>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1770T>G	6.37:g.47846810A>C	ENSP00000341914:p.Asn590Lys						p.N590K	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1803	-			590					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1770T>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	9.098	1.003356	0.19121	.	.	ENSG00000244694	ENST00000339488	D	0.84730	-1.89	5.48	-5.58	0.02512	.	0.102556	0.64402	D	0.000003	T	0.58032	0.2094	L	0.44542	1.39	0.80722	D	1	B	0.21071	0.051	B	0.25759	0.063	T	0.55036	-0.8203	10	0.06236	T	0.91	.	15.2769	0.73748	0.543:0.0:0.457:0.0	.	590	Q6ZW05	CF138_HUMAN	K	590	ENSP00000341914:N590K	ENSP00000341914:N590K	N	-	3	2	C6orf138	47954769	0.064000	0.20934	0.714000	0.30535	0.984000	0.73092	-0.459000	0.06728	-1.557000	0.01692	-0.924000	0.02725	AAT		0.423	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		43	12	0	0	0	0.834066	0	43	12				
SLC25A38	54977	broad.mit.edu	37	3	39431997	39431997	+	Splice_Site	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr3:39431997C>T	ENST00000273158.4	+	3	652	c.275C>T	c.(274-276)cCt>cTt	p.P92L		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGATGTCCCCTGTAAGCTGC	0.478																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.e3+1		solute carrier family 25, member 38							193.0	184.0	187.0					3																	39431997		2203	4300	6503	SO:0001630	splice_region_variant	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39431997C>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.276+1C>T	3.37:g.39431997C>T							p.P92_splice	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	3	652	+			92						Splice_Site	SNP	ENST00000273158.4	37	c.276_splice	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	c	31	5.104653	0.94245	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	D;D	0.81739	-1.53;-1.53	4.99	4.99	0.66335	Mitochondrial carrier domain (2);	0.049507	0.85682	D	0.000000	D	0.91222	0.7234	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92575	0.6069	10	0.56958	D	0.05	-17.6854	15.8374	0.78808	0.0:1.0:0.0:0.0	.	92	Q96DW6	S2538_HUMAN	L	92;88	ENSP00000273158:P92L;ENSP00000394244:P88L	ENSP00000273158:P92L	P	+	2	0	SLC25A38	39407001	1.000000	0.71417	0.979000	0.43373	0.987000	0.75469	7.427000	0.80284	2.334000	0.79466	0.650000	0.86243	CCT		0.478	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875	Missense_Mutation	13	53	0	0	0	0.411799	0	13	53				
BCL9	607	broad.mit.edu	37	1	147090735	147090735	+	Silent	SNP	A	A	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:147090735A>C	ENST00000234739.3	+	8	1514	c.774A>C	c.(772-774)ccA>ccC	p.P258P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	258	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCCAACTCCACCCATTCCGG	0.592			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(772-774)ccA>ccC		B-cell CLL/lymphoma 9							69.0	71.0	70.0					1																	147090735		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090735A>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.774A>C	1.37:g.147090735A>C							p.P258P	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1514	+	all_hematologic(923;0.115)		258			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.774A>C	CCDS30833.1																																																																																				0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	56	0	0	0	0.335167	0	7	56				
APOB	338	broad.mit.edu	37	2	21226162	21226162	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:21226162C>T	ENST00000233242.1	-	29	12259	c.12132G>A	c.(12130-12132)agG>agA	p.R4044R	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4044					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCCCGGACCCTCAACTCAG	0.393																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(12130-12132)agG>agA		apolipoprotein B	Atorvastatin(DB01076)						207.0	232.0	223.0					2																	21226162		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21226162C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12132G>A	2.37:g.21226162C>T							p.R4044R	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	12259	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4044					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12132G>A	CCDS1703.1																																																																																				0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			105	232	0	0	0	0.870114	0	105	232				
GRM6	2916	broad.mit.edu	37	5	178418950	178418950	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418950C>A	ENST00000517717.1	-	3	677	c.639G>T	c.(637-639)tgG>tgT	p.W213C	GRM6_ENST00000231188.5_Missense_Mutation_p.W213C|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	213					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		ACACATAGTTCCATCCCAGTG	0.622																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(637-639)tgG>tgT		glutamate receptor, metabotropic 6							79.0	66.0	70.0					5																	178418950		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418950C>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.639G>T	5.37:g.178418950C>A	ENSP00000430767:p.Trp213Cys					GRM6_ENST00000517717.1_Missense_Mutation_p.W213C	p.W213C	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	2	817	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	213						Missense_Mutation	SNP	ENST00000517717.1	37	c.639G>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371124	0.82573	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.91631	-2.88;-2.88	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.97464	0.9170	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98376	1.0556	9	0.87932	D	0	.	17.2396	0.87009	0.0:1.0:0.0:0.0	.	213	O15303	GRM6_HUMAN	C	161;213;213	ENSP00000231188:W213C;ENSP00000430767:W213C	ENSP00000231188:W213C	W	-	3	0	GRM6	178351556	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.658000	0.83755	2.746000	0.94184	0.655000	0.94253	TGG		0.622	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			9	21	1	0	2.74318e-10	0.335167	3.00443e-10	9	21				
MFSD6	54842	broad.mit.edu	37	2	191301884	191301884	+	Missense_Mutation	SNP	G	G	A	rs554501896		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:191301884G>A	ENST00000392328.1	+	3	1453	c.1129G>A	c.(1129-1131)Gtt>Att	p.V377I	MFSD6_ENST00000281416.7_Missense_Mutation_p.V377I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	377					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CGTCTTCGGCGTTCTCATGAC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23425	0.0		0.0	False		,,,				2504	0.0					ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1129-1131)Gtt>Att		major facilitator superfamily domain containing 6							83.0	70.0	74.0					2																	191301884		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191301884G>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1129G>A	2.37:g.191301884G>A	ENSP00000376141:p.Val377Ile					MFSD6_ENST00000281416.7_Missense_Mutation_p.V377I	p.V377I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1453	+			377					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1129G>A	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376776	0.82682	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.80304	-1.36;-1.36	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	D	0.62955	0.909	T	0.81564	-0.0875	10	0.38643	T	0.18	-28.433	19.848	0.96722	0.0:0.0:1.0:0.0	.	377	Q6ZSS7	MFSD6_HUMAN	I	377	ENSP00000376141:V377I;ENSP00000281416:V377I	ENSP00000281416:V377I	V	+	1	0	MFSD6	191010129	1.000000	0.71417	0.933000	0.37362	0.839000	0.47603	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GTT		0.512	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			19	29	0	0	0	0.539581	0	19	29				
MRTO4	51154	broad.mit.edu	37	1	19583994	19583994	+	Missense_Mutation	SNP	G	G	A	rs114437725	byFrequency	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:19583994G>A	ENST00000330263.4	+	5	617	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	107					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACCAACCGCACAAAGGAG	0.522													G|||	12	0.00239617	0.0091	0.0	5008	,	,		22125	0.0		0.0	False		,,,				2504	0.0				GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(319-321)cGc>cAc		mRNA turnover 4 homolog (S. cerevisiae)		G	HIS/ARG	35,4371	39.2+/-71.8	0,35,2168	154.0	148.0	150.0		320	5.8	1.0	1	dbSNP_132	150	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MRTO4	NM_016183.3	29	0,36,6467	AA,AG,GG		0.0116,0.7944,0.2768	probably-damaging	107/240	19583994	36,12970	2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19583994G>A	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.320G>A	1.37:g.19583994G>A	ENSP00000364320:p.Arg107His						p.R107H	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	617	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	107					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.320G>A	CCDS191.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	28.3	4.911152	0.92178	0.007944	1.16E-4	ENSG00000053372	ENST00000330263	T	0.41758	0.99	5.82	5.82	0.92795	.	0.097261	0.64402	D	0.000002	T	0.39572	0.1083	M	0.70842	2.15	0.45295	D	0.998296	B	0.28900	0.227	B	0.28916	0.096	T	0.37686	-0.9695	10	0.48119	T	0.1	-9.562	18.6692	0.91504	0.0:0.0:1.0:0.0	.	107	Q9UKD2	MRT4_HUMAN	H	107	ENSP00000364320:R107H	ENSP00000364320:R107H	R	+	2	0	MRTO4	19456581	1.000000	0.71417	0.965000	0.40720	0.922000	0.55478	6.518000	0.73764	2.757000	0.94681	0.655000	0.94253	CGC		0.522	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		4	136	0	0	0	0.184627	0	4	136				
HIVEP1	3096	broad.mit.edu	37	6	12122495	12122495	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:12122495G>C	ENST00000379388.2	+	4	2799	c.2467G>C	c.(2467-2469)Gtg>Ctg	p.V823L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	823					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCAAAGCAAGTGTTTCTTCT	0.403																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(2467-2469)Gtg>Ctg		human immunodeficiency virus type I enhancer binding protein 1							147.0	138.0	141.0					6																	12122495		1900	4119	6019	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122495G>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2467G>C	6.37:g.12122495G>C	ENSP00000368698:p.Val823Leu						p.V823L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	2799	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	823					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2467G>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849286	0.91277	.	.	ENSG00000095951	ENST00000379388	T	0.28895	1.59	6.01	6.01	0.97437	.	0.000000	0.33005	N	0.005391	T	0.54532	0.1864	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.51741	-0.8667	9	.	.	.	-21.4334	20.5211	0.99222	0.0:0.0:1.0:0.0	.	823	P15822	ZEP1_HUMAN	L	823	ENSP00000368698:V823L	.	V	+	1	0	HIVEP1	12230481	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.954000	0.87848	2.861000	0.98227	0.650000	0.86243	GTG		0.403	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		80	34	0	0	0	0.870114	0	80	34				
ZFP42	132625	broad.mit.edu	37	4	188924355	188924355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:188924355C>T	ENST00000326866.4	+	4	802	c.394C>T	c.(394-396)Cca>Tca	p.P132S	ZFP42_ENST00000509524.1_Missense_Mutation_p.P132S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	132					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGAGCTTCCACAAAAGAT	0.418																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(394-396)Cca>Tca		ZFP42 zinc finger protein							93.0	102.0	99.0					4																	188924355		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924355C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.394C>T	4.37:g.188924355C>T	ENSP00000317686:p.Pro132Ser					ZFP42_ENST00000509524.1_Missense_Mutation_p.P132S	p.P132S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	802	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	132					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.394C>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702083	0.30232	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.13089	2.62;2.62	4.17	1.41	0.22369	.	0.463995	0.19454	N	0.113872	T	0.06280	0.0162	L	0.29908	0.895	0.09310	N	1	B	0.23058	0.079	B	0.18263	0.021	T	0.35425	-0.9789	10	0.08837	T	0.75	.	0.9866	0.01447	0.1944:0.4239:0.1748:0.207	.	132	Q96MM3	ZFP42_HUMAN	S	132	ENSP00000317686:P132S;ENSP00000424662:P132S	ENSP00000317686:P132S	P	+	1	0	ZFP42	189161349	0.064000	0.20934	0.001000	0.08648	0.028000	0.11728	-0.189000	0.09629	0.275000	0.22094	0.655000	0.94253	CCA		0.418	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		46	76	0	0	0	0.864702	0	46	76				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			2	11	0	0	0	0.115264	0	2	11				
PRDM13	59336	broad.mit.edu	37	6	100062566	100062566	+	Missense_Mutation	SNP	C	C	G	rs371900807		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:100062566C>G	ENST00000369215.4	+	4	2360	c.2055C>G	c.(2053-2055)gaC>gaG	p.D685E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	685					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGACAGTGACGTGGACGTCT	0.701																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(2083-2085)gaC>gaG		PR domain containing 13							27.0	30.0	29.0					6																	100062566		1744	3847	5591	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062566C>G	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2055C>G	6.37:g.100062566C>G	ENSP00000358217:p.Asp685Glu					PRDM13_ENST00000369215.4_Missense_Mutation_p.D685E	p.D695E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2346	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	685					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.2085C>G	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849228	0.51270	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06371	3.31;3.32	5.8	2.75	0.32379	.	0.000000	0.43747	D	0.000523	T	0.01254	0.0041	N	0.19112	0.55	0.31318	N	0.686321	P	0.43750	0.816	B	0.38616	0.277	T	0.53989	-0.8360	10	0.31617	T	0.26	-34.8029	6.5707	0.22537	0.0:0.6072:0.1229:0.2699	.	685	Q9H4Q3	PRD13_HUMAN	E	685;695	ENSP00000358217:D685E;ENSP00000358216:D695E	ENSP00000358216:D695E	D	+	3	2	PRDM13	100169287	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.653000	0.24902	0.249000	0.21456	0.655000	0.94253	GAC		0.701	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			21	11	0	0	0	0.624587	0	21	11				
OPHN1	4983	broad.mit.edu	37	X	67283790	67283790	+	Silent	SNP	G	G	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:67283790G>T	ENST00000355520.5	-	21	2705	c.2064C>A	c.(2062-2064)gcC>gcA	p.A688A	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	688	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTCCATTGGTGGCCTTTGGGG	0.607																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(2062-2064)gcC>gcA		oligophrenin 1							65.0	49.0	54.0					X																	67283790		2203	4300	6503	SO:0001819	synonymous_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283790G>T	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2064C>A	X.37:g.67283790G>T						OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	p.A688A	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			21	2705	-			688			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	c.2064C>A	CCDS14388.1																																																																																				0.607	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		13	26	1	0	1.5739e-10	0.500413	1.75159e-10	13	26				
DCAF12L1	139170	broad.mit.edu	37	X	125685930	125685930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:125685930C>T	ENST00000371126.1	-	1	904	c.662G>A	c.(661-663)cGg>cAg	p.R221Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	221										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGGGTCCATCCGCCACAGCGC	0.657																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(661-663)cGg>cAg		DDB1 and CUL4 associated factor 12-like 1							34.0	35.0	34.0					X																	125685930		2203	4299	6502	SO:0001583	missense	139170							g.chrX:125685930C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.662G>A	X.37:g.125685930C>T	ENSP00000360167:p.Arg221Gln						p.R221Q	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	904	-			221					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.662G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347104	0.24426	.	.	ENSG00000198889	ENST00000371126	T	0.63255	-0.03	3.89	-7.77	0.01227	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.294574	0.18487	N	0.139762	T	0.43077	0.1231	L	0.35644	1.08	0.09310	N	1	B	0.25169	0.119	B	0.15484	0.013	T	0.02220	-1.1193	10	0.41790	T	0.15	.	12.5689	0.56326	0.0:0.1288:0.1003:0.7709	.	221	Q5VU92	DC121_HUMAN	Q	221	ENSP00000360167:R221Q	ENSP00000360167:R221Q	R	-	2	0	DCAF12L1	125513611	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.412000	0.07132	-2.563000	0.00472	0.429000	0.28392	CGG		0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		17	25	0	0	0	0.520397	0	17	25				
OR3A2	4995	broad.mit.edu	37	17	3181629	3181629	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:3181629T>A	ENST00000408891.2	-	1	639	c.601A>T	c.(601-603)Acc>Tcc	p.T201S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	201					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						TTGAGTTGGGTGCTGGAGCAG	0.552																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	ENST00000408891.2																			0				ovary(1)	1						c.(601-603)Acc>Tcc		olfactory receptor, family 3, subfamily A, member 2							78.0	72.0	74.0					17																	3181629		2203	4300	6503	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181629T>A	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.601A>T	17.37:g.3181629T>A	ENSP00000386180:p.Thr201Ser						p.T201S	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN			1	639	-			201					Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.601A>T	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311715	0.60414	.	.	ENSG00000221882	ENST00000408891	T	0.00207	8.55	4.9	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.128372	0.35495	N	0.003165	T	0.00384	0.0012	M	0.77406	2.37	0.21386	N	0.999703	P	0.39480	0.675	P	0.53185	0.72	T	0.16424	-1.0403	10	0.72032	D	0.01	-21.6715	5.982	0.19413	0.1457:0.0823:0.0:0.772	.	201	P47893	OR3A2_HUMAN	S	201	ENSP00000386180:T201S	ENSP00000386180:T201S	T	-	1	0	OR3A2	3128379	0.956000	0.32656	0.992000	0.48379	0.859000	0.49053	1.886000	0.39688	1.004000	0.39156	-0.375000	0.07067	ACC		0.552	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			29	60	0	0	0	0.760397	0	29	60				
NF1	4763	broad.mit.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	17	Whole gene deletion(8)|Substitution - Nonsense(6)|Unknown(3)	p.0?(8)|p.R2450*(6)|p.?(3)	soft_tissue(10)|autonomic_ganglia(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|central_nervous_system(1)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD000998|CM000818	NF1	D|M		c.(7348-7350)Cga>Tga		neurofibromin 1							159.0	145.0	150.0					17																	29677227		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29677227C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7348C>T	17.37:g.29677227C>T	ENSP00000351015:p.Arg2450*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*	p.R2450*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	50	7731	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2450					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.7348C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276767	0.80580	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.382	0.66916	0.1478:0.8522:0.0:0.0	.	.	.	.	X	2450;2429;2095;243;163	.	ENSP00000348498:R2429X	R	+	1	2	NF1	26701353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.331000	0.43894	2.626000	0.88956	0.563000	0.77884	CGA		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		39	72	0	0	0	0.819951	0	39	72				
OR2D2	120776	broad.mit.edu	37	11	6913294	6913294	+	Silent	SNP	T	T	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:6913294T>C	ENST00000299459.2	-	1	536	c.438A>G	c.(436-438)acA>acG	p.T146T		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	146					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCATGATCCTGTTGCCAGCT	0.493																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(436-438)acA>acG		olfactory receptor, family 2, subfamily D, member 2							137.0	104.0	115.0					11																	6913294		2201	4296	6497	SO:0001819	synonymous_variant	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913294T>C	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.438A>G	11.37:g.6913294T>C							p.T146T	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	536	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	146					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	c.438A>G	CCDS31416.1																																																																																				0.493	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		3	68	0	0	0	0.115264	0	3	68				
RB1	5925	broad.mit.edu	37	13	48953728	48953728	+	Splice_Site	SNP	A	A	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr13:48953728A>G	ENST00000267163.4	+	14	1470		c.e14-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						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.?(10)		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)"""	GTTTGTTTGTAGCGATACAAA	0.333		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"""		25	Whole gene deletion(15)|Unknown(10)	p.0?(15)|p.?(10)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|eye(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	CS030552	RB1	S		c.e14-1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						18.0	19.0	19.0					13																	48953728		2200	4299	6499	SO:0001630	splice_region_variant	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.chr13:48953728A>G	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.1333-1A>G	13.37:g.48953728A>G		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)						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	1470	+		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)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37		CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605344	0.87157	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0294	0.80567	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47851729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.469000	0.90395	2.185000	0.69588	0.455000	0.32223	.		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	9	7	0	0	0	0.335167	0	9	7				
C4BPB	725	broad.mit.edu	37	1	207265091	207265091	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:207265091T>A	ENST00000243611.5	+	3	629	c.335T>A	c.(334-336)aTc>aAc	p.I112N	C4BPB_ENST00000367076.3_Missense_Mutation_p.I111N|C4BPB_ENST00000451804.2_Missense_Mutation_p.I102N|C4BPB_ENST00000367078.3_Missense_Mutation_p.I112N|C4BPB_ENST00000391923.1_Missense_Mutation_p.I112N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	112	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						GACCACTACATCCTCAAGGGC	0.493																																						ENST00000243611.5																			0				breast(2)|lung(1)|ovary(1)	4						c.(334-336)aTc>aAc		complement component 4 binding protein, beta							129.0	111.0	117.0					1																	207265091		2203	4300	6503	SO:0001583	missense	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207265091T>A	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.335T>A	1.37:g.207265091T>A	ENSP00000243611:p.Ile112Asn					C4BPB_ENST00000367078.3_Missense_Mutation_p.I112N|C4BPB_ENST00000451804.2_Missense_Mutation_p.I102N|C4BPB_ENST00000391923.1_Missense_Mutation_p.I112N|C4BPB_ENST00000367076.3_Missense_Mutation_p.I111N	p.I112N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN			3	629	+			112			Sushi 2.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	37	c.335T>A	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132904	0.56828	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.04	5.04	0.67666	Complement control module (2);Sushi/SCR/CCP (3);	0.229124	0.30809	N	0.008827	T	0.68742	0.3034	L	0.46947	1.48	0.31774	N	0.63177	D;D;D;D	0.76494	0.999;0.997;0.992;0.99	D;D;D;D	0.72338	0.977;0.959;0.947;0.912	T	0.67558	-0.5640	10	0.17369	T	0.5	-6.0645	11.1008	0.48172	0.0:0.0:0.0:1.0	.	102;102;112;111	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	N	112;112;112;111;112;102	ENSP00000356045:I112N;ENSP00000392237:I112N;ENSP00000243611:I112N;ENSP00000356043:I111N;ENSP00000375790:I112N;ENSP00000405649:I102N	ENSP00000243611:I112N	I	+	2	0	C4BPB	205331714	0.951000	0.32395	0.551000	0.28230	0.877000	0.50540	2.043000	0.41231	2.127000	0.65507	0.482000	0.46254	ATC		0.493	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		7	57	0	0	0	0.278610	0	7	57				
CXorf22	170063	broad.mit.edu	37	X	35985795	35985795	+	Missense_Mutation	SNP	C	C	T	rs369720331		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:35985795C>T	ENST00000297866.5	+	10	1726	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	554										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTTGGCAAAACGCAAGAATTA	0.393																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1660-1662)Cgc>Tgc		chromosome X open reading frame 22		C	CYS/ARG	0,3833		0,0,1631,571	121.0	101.0	108.0		1660	-10.1	0.0	X		108	1,6727		0,1,2427,1872	no	missense	CXorf22	NM_152632.3	180	0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	554/977	35985795	1,10560	2202	4300	6502	SO:0001583	missense	170063							g.chrX:35985795C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1660C>T	X.37:g.35985795C>T	ENSP00000297866:p.Arg554Cys						p.R554C	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			10	1726	+			554					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1660C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471486	0.26423	0.0	1.49E-4	ENSG00000165164	ENST00000297866	T	0.13901	2.55	5.07	-10.1	0.00402	.	1.146510	0.06263	N	0.694209	T	0.03783	0.0107	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36915	-0.9728	10	0.38643	T	0.18	-28.5459	0.2978	0.00268	0.3628:0.1526:0.2139:0.2707	.	554	Q6ZTR5	CX022_HUMAN	C	554	ENSP00000297866:R554C	ENSP00000297866:R554C	R	+	1	0	CXorf22	35895716	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.468000	0.06656	-2.576000	0.00465	-0.365000	0.07479	CGC		0.393	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		16	51	0	0	0	0.520397	0	16	51				
APEX2	27301	broad.mit.edu	37	X	55033526	55033526	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:55033526A>T	ENST00000374987.3	+	6	1281	c.1215A>T	c.(1213-1215)caA>caT	p.Q405H	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	405					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCTGTCCCCAAGCCTCTCCTG	0.587								Other BER factors																														ENST00000374987.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(1213-1215)caA>caT	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2							42.0	45.0	44.0					X																	55033526		2203	4300	6503	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033526A>T	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1215A>T	X.37:g.55033526A>T	ENSP00000364126:p.Gln405His						p.Q405H	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			6	1281	+			405					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.1215A>T	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689085	0.29962	.	.	ENSG00000169188	ENST00000374987	T	0.60672	0.17	4.59	4.59	0.56863	.	0.966665	0.08542	N	0.930417	T	0.54078	0.1836	L	0.57536	1.79	0.09310	N	0.999999	B	0.19935	0.04	B	0.17722	0.019	T	0.44003	-0.9356	10	0.39692	T	0.17	-0.9589	8.6289	0.33906	0.8263:0.0:0.0:0.1737	.	405	Q9UBZ4	APEX2_HUMAN	H	405	ENSP00000364126:Q405H	ENSP00000364126:Q405H	Q	+	3	2	APEX2	55050251	0.967000	0.33354	0.007000	0.13788	0.258000	0.26162	3.091000	0.50199	1.779000	0.52309	0.486000	0.48141	CAA		0.587	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			9	18	0	0	0	0.307466	0	9	18				
ANO9	338440	broad.mit.edu	37	11	418583	418583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:418583C>T	ENST00000332826.6	-	23	2221	c.2137G>A	c.(2137-2139)Gcc>Acc	p.A713T	SIGIRR_ENST00000397632.3_5'Flank|SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	713					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ATGCACAAGGCCACGTGCTAG	0.627																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(2137-2139)Gcc>Acc		anoctamin 9							73.0	66.0	68.0					11																	418583		2203	4299	6502	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:418583C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2137G>A	11.37:g.418583C>T	ENSP00000332788:p.Ala713Thr						p.A713T	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			23	2221	-			713					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.2137G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	c	17.00	3.276223	0.59649	.	.	ENSG00000185101	ENST00000332826	T	0.65364	-0.15	3.56	3.56	0.40772	.	0.317587	0.28114	N	0.016548	T	0.75759	0.3893	M	0.62723	1.935	0.38214	D	0.940558	D;D	0.89917	1.0;1.0	D;D	0.79784	0.962;0.993	T	0.81191	-0.1045	10	0.62326	D	0.03	.	15.7152	0.77663	0.0:1.0:0.0:0.0	.	414;713	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	T	713	ENSP00000332788:A713T	ENSP00000332788:A713T	A	-	1	0	ANO9	408583	0.998000	0.40836	0.859000	0.33776	0.047000	0.14425	2.990000	0.49401	2.011000	0.59026	0.478000	0.44815	GCC		0.627	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		23	36	0	0	0	0.608945	0	23	36				
PARP1	142	broad.mit.edu	37	1	226553737	226553737	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:226553737G>C	ENST00000366794.5	-	18	2566	c.2423C>G	c.(2422-2424)tCt>tGt	p.S808C	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	808	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCTTCTTCAGAATCTCTGTC	0.448								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2422-2424)tCt>tGt	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							128.0	100.0	109.0					1																	226553737		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226553737G>C	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2423C>G	1.37:g.226553737G>C	ENSP00000355759:p.Ser808Cys					PARP1_ENST00000490921.1_5'UTR	p.S808C	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	18	2566	-	Breast(184;0.133)		808			PARP catalytic.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.2423C>G	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617055	0.87359	.	.	ENSG00000143799	ENST00000366794	T	0.19250	2.16	5.68	5.68	0.88126	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.107759	0.64402	D	0.000003	T	0.45074	0.1324	M	0.87617	2.895	0.80722	D	1	P	0.51240	0.943	P	0.50049	0.629	T	0.53697	-0.8402	10	0.87932	D	0	.	19.7958	0.96481	0.0:0.0:1.0:0.0	.	808	P09874	PARP1_HUMAN	C	808	ENSP00000355759:S808C	ENSP00000355759:S808C	S	-	2	0	PARP1	224620360	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	6.908000	0.75730	2.695000	0.91970	0.650000	0.86243	TCT		0.448	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		3	45	0	0	0	0.115264	0	3	45				
PCDHB13	56123	broad.mit.edu	37	5	140594885	140594885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:140594885C>T	ENST00000341948.4	+	1	1377	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	397	Cadherin 4. {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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAAATCCGCGGAAAACTTT	0.453																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1189-1191)gCg>gTg									88.0	88.0	88.0					5																	140594885		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	g.chr5:140594885C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1190C>T	5.37:g.140594885C>T	ENSP00000345491:p.Ala397Val						p.A397V	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1377	+			397			Cadherin 4.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1190C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	1.475	-0.558750	0.03967	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01871	4.59	3.5	-7.0	0.01599	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00384	0.0012	N	0.00077	-2.24	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41378	-0.9512	9	0.02654	T	1	.	0.9798	0.01433	0.4075:0.2613:0.1187:0.2125	.	397	Q9Y5F0	PCDBD_HUMAN	V	397	ENSP00000345491:A397V	ENSP00000345491:A397V	A	+	2	0	PCDHB13	140575069	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-0.329000	0.07935	-1.588000	0.01627	-0.708000	0.03648	GCG		0.453	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		25	52	0	0	0	0.654019	0	25	52				
LGALS9C	654346	broad.mit.edu	37	17	18396173	18396173	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:18396173G>A	ENST00000328114.6	+	10	1005	c.924G>A	c.(922-924)tcG>tcA	p.S308S	LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000583322.1_Splice_Site_p.S275S|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Splice_Site_p.S220S	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	308	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AGAGCTTCTCGGTAAGGCGCC	0.592																																						ENST00000328114.6																			0				NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						c.e10+1		lectin, galactoside-binding, soluble, 9C							13.0	9.0	11.0					17																	18396173		2149	3891	6040	SO:0001630	splice_region_variant	654346						sugar binding	g.chr17:18396173G>A		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.924+1G>A	17.37:g.18396173G>A						LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Splice_Site_p.S220_splice|LGALS9C_ENST00000583322.1_Splice_Site_p.S275_splice	p.S308_splice	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN			10	1005	+			308			Galectin 2.		B0AZM7	Splice_Site	SNP	ENST00000328114.6	37	c.924_splice	CCDS32587.1																																																																																				0.592	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078	Silent	8	19	0	0	0	0.457914	0	8	19				
RXFP1	59350	broad.mit.edu	37	4	159526262	159526262	+	Silent	SNP	C	C	T	rs367796878		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:159526262C>T	ENST00000307765.5	+	5	686	c.435C>T	c.(433-435)tgC>tgT	p.C145C	RXFP1_ENST00000470033.1_Silent_p.C112C|RXFP1_ENST00000460056.2_Silent_p.C64C|RXFP1_ENST00000343542.5_Silent_p.C145C|RXFP1_ENST00000423548.1_Silent_p.C145C|RXFP1_ENST00000448688.2_Silent_p.C64C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	145					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCCTGATTGCTTCAAGAATT	0.299													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18202	0.0		0.0	False		,,,				2504	0.0					ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(433-435)tgC>tgT		relaxin/insulin-like family peptide receptor 1		C		1,3627		0,1,1813	48.0	46.0	47.0		435	2.9	1.0	4		47	0,8132		0,0,4066	no	coding-synonymous	RXFP1	NM_021634.2		0,1,5879	TT,TC,CC		0.0,0.0276,0.0085		145/758	159526262	1,11759	1814	4066	5880	SO:0001819	synonymous_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159526262C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.435C>T	4.37:g.159526262C>T						RXFP1_ENST00000460056.2_Silent_p.C64C|RXFP1_ENST00000448688.2_Silent_p.C64C|RXFP1_ENST00000423548.1_Silent_p.C145C|RXFP1_ENST00000470033.1_Silent_p.C112C|RXFP1_ENST00000343542.5_Silent_p.C145C	p.C145C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	5	686	+	all_hematologic(180;0.24)	Renal(120;0.0854)	145					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	c.435C>T	CCDS43276.1																																																																																				0.299	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		10	24	0	0	0	0.387290	0	10	24				
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	258						7	258	---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152382287	152382287	+	Missense_Mutation	SNP	C	C	T	rs150002541		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152382287C>T	ENST00000271835.3	-	3	1333	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	424					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCACACAGCGCCTTGGGTG	0.602																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1270-1272)cGc>cAc		cornulin							130.0	96.0	108.0					1																	152382287		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382287C>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1271G>A	1.37:g.152382287C>T	ENSP00000271835:p.Arg424His					RP1-91G5.3_ENST00000411804.1_RNA	p.R424H	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1333	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		424					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1271G>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566464	0.03910	.	.	ENSG00000143536	ENST00000271835	T	0.04360	3.64	3.21	7.04E-4	0.14043	.	1.038600	0.07643	N	0.930585	T	0.00875	0.0029	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48937	-0.8990	10	0.15499	T	0.54	.	5.2824	0.15682	0.0:0.5968:0.1715:0.2317	.	424	Q9UBG3	CRNN_HUMAN	H	424	ENSP00000271835:R424H	ENSP00000271835:R424H	R	-	2	0	CRNN	150648911	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.599000	0.05700	-0.567000	0.06046	-1.318000	0.01297	CGC		0.602	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		17	37	0	0	0	0.500413	0	17	37				
PTEN	5728	broad.mit.edu	37	10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A	rs398123330		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(955-957)actfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). {ECO:0000269|PubMed:9090379}.		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.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(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)		ATCTAGTACTTACTTTAACAAA	0.327		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		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"""		121	Deletion - Frameshift(70)|Whole gene deletion(37)|Deletion - In frame(6)|Insertion - Frameshift(6)|Unknown(2)	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)	endometrium(38)|central_nervous_system(29)|prostate(17)|skin(8)|breast(7)|ovary(6)|lung(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(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	CD972424|CI075686	PTEN	D|I	rs146650273	c.(952-957)ctctttfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	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.chr10:89720803_89720804insA	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.955dupA	10.37:g.89720804_89720804dupA	ENSP00000361021:p.Thr319fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.F319fs	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)	8	2311_2312	+		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)	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.954_955insA	CCDS31238.1																																																																																				0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		57	23						57	23	---	---	---	---
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	lincRNA	INS	-	-	GTCCC	rs60511353|rs536110028	byFrequency	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225				RP11-597A11.1_ENST00000548261.1_RNA																							CCAACTCAGCAGAACAGTGTCA	0.505														1248	0.249201	0.3147	0.3775	5008	,	,		16134	0.1438		0.2396	False		,,,				2504	0.1881					ENST00000555580.1																			0																																																			0							g.chr14:20146543_20146544insGTCCC																													14.37:g.20146543_20146544insGTCCC														0	225	-									RNA	INS	ENST00000555580.1	37																																																																																						0.505	RP11-597A11.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409767.1			2	4						2	4	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			3	5						3	5	---	---	---	---
