#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPEN	23013	broad.mit.edu	37	1	16260533	16260533	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:16260533G>A	ENST00000375759.3	+	11	8002	c.7798G>A	c.(7798-7800)Gag>Aag	p.E2600K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2600	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACAAGCCTCGGAGGTGCTGGT	0.498																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(7798-7800)GAG>AAG		spen homolog, transcriptional regulator							85.0	87.0	86.0					1																	16260533		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260533G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7798G>A	1.37:g.16260533G>A	ENSP00000364912:p.Glu2600Lys					SPEN_uc010obp.1_Missense_Mutation_p.E2559K	p.E2600K	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	8002	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2600			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7798G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354529	0.24512	.	.	ENSG00000065526	ENST00000375759	T	0.15603	2.41	5.24	4.31	0.51392	.	.	.	.	.	T	0.21103	0.0508	L	0.53249	1.67	0.40481	D	0.980441	P	0.48407	0.91	B	0.42462	0.388	T	0.03619	-1.1019	9	0.52906	T	0.07	-18.7721	15.6583	0.77162	0.0:0.1377:0.8623:0.0	.	2600	Q96T58	MINT_HUMAN	K	2600	ENSP00000364912:E2600K	ENSP00000364912:E2600K	E	+	1	0	SPEN	16133120	1.000000	0.71417	0.317000	0.25265	0.049000	0.14656	5.806000	0.69150	1.168000	0.42723	0.561000	0.74099	GAG		0.498	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		12	113	0	0	0	0	12	113				
CELSR2	1952	broad.mit.edu	37	1	109806318	109806318	+	Silent	SNP	C	C	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:109806318C>T	ENST00000271332.3	+	9	4981	c.4920C>T	c.(4918-4920)ctC>ctT	p.L1640L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1640	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTGGTACCTCAGCCTCATGT	0.652											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(4918-4920)CTC>CTT		cadherin EGF LAG seven-pass G-type receptor 2							89.0	85.0	86.0					1																	109806318		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109806318C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4920C>T	1.37:g.109806318C>T			OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.L1640L	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	9	4981	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1640			Extracellular (Potential).|Laminin G-like 2.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4920C>T	CCDS796.1																																																																																				0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		7	120	0	0	0	0	7	120				
GPR89A	653519	broad.mit.edu	37	1	145765384	145765384	+	Silent	SNP	T	T	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:145765384T>C	ENST00000313835.9	-	13	1289	c.1146A>G	c.(1144-1146)ctA>ctG	p.L382L	GPR89A_ENST00000534502.1_Silent_p.L357L|GPR89A_ENST00000454423.3_Silent_p.L262L|GPR89A_ENST00000462900.2_Silent_p.L357L			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	382					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCTGTGCTAATAGCAGGACAA	0.328																																						uc001eot.2		NA																	0					0						c.(1144-1146)CTA>CTG		G protein-coupled receptor 89A isoform 1							210.0	233.0	225.0					1																	145765384		2203	4298	6501	SO:0001819	synonymous_variant	653519				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:145765384T>C	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.1146A>G	1.37:g.145765384T>C						NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Silent_p.L80L|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Silent_p.L306L|GPR89A_uc010ozb.1_Silent_p.L357L|GPR89A_uc001eos.2_Silent_p.L262L|GPR89A_uc010ozc.1_Silent_p.L357L|GPR89A_uc010ozd.1_Silent_p.L329L|GPR89A_uc010oze.1_Silent_p.L382L	p.L382L	NM_001097612	NP_001091081	B7ZAQ6	GPHRA_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		13	1320	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		382			Helical; (Potential).		A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Silent	SNP	ENST00000313835.9	37	c.1146A>G	CCDS41377.1																																																																																				0.328	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612		23	173	0	0	0	0	23	173				
LHX9	56956	broad.mit.edu	37	1	197887087	197887087	+	Missense_Mutation	SNP	C	C	T	rs542681982		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:197887087C>T	ENST00000367387.4	+	1	559	c.134C>T	c.(133-135)gCc>gTc	p.A45V	LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000561173.1_Missense_Mutation_p.A51V|LHX9_ENST00000367391.1_Missense_Mutation_p.A36V|LHX9_ENST00000337020.2_Missense_Mutation_p.A45V|LHX9_ENST00000367390.3_Missense_Mutation_p.A36V	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	45					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AAGACTGAGGCCCGTCTGGCC	0.657																																						uc001guk.1		NA																	0				ovary(1)	1						c.(133-135)GCC>GTC		LIM homeobox 9 isoform 1							73.0	76.0	75.0					1																	197887087		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197887087C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.134C>T	1.37:g.197887087C>T	ENSP00000356357:p.Ala45Val					LHX9_uc009wzc.1_RNA|LHX9_uc001gui.1_Missense_Mutation_p.A36V|LHX9_uc001guj.1_Missense_Mutation_p.A51V	p.A45V	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			1	571	+			45					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.134C>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627611	0.66901	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000367388;ENST00000337020;ENST00000367387	T;D;T;D	0.88431	0.58;-2.38;0.51;-2.37	5.06	5.06	0.68205	.	0.181999	0.49916	D	0.000139	T	0.77961	0.4209	N	0.08118	0	0.41976	D	0.99077	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.12837	0.004;0.005;0.008	T	0.73107	-0.4087	10	0.31617	T	0.26	.	13.5112	0.61513	0.0:0.8435:0.1565:0.0	.	45;36;36	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	V	36;36;88;45;45	ENSP00000356361:A36V;ENSP00000356360:A36V;ENSP00000337969:A45V;ENSP00000356357:A45V	ENSP00000337969:A45V	A	+	2	0	LHX9	196153710	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.441000	0.66569	2.506000	0.84524	0.655000	0.94253	GCC		0.657	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		7	79	0	0	0	0	7	79				
PTPRC	5788	broad.mit.edu	37	1	198668699	198668699	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:198668699C>T	ENST00000367376.2	+	5	470	c.299C>T	c.(298-300)tCa>tTa	p.S100L	PTPRC_ENST00000352140.3_Missense_Mutation_p.S100L|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Missense_Mutation_p.S102L|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	100					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAGGTGTTTCATCAGTACAG	0.488											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(298-300)TCA>TTA		protein tyrosine phosphatase, receptor type, C							97.0	100.0	99.0					1																	198668699		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668699C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.299C>T	1.37:g.198668699C>T	ENSP00000356346:p.Ser100Leu		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_uc001gus.1_Missense_Mutation_p.S100L|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.S36L|PTPRC_uc009wzf.1_Missense_Mutation_p.S36L|PTPRC_uc010ppg.1_Missense_Mutation_p.S36L|PTPRC_uc001guu.1_Missense_Mutation_p.S143L|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	p.S100L	NM_002838	NP_002829	P08575	PTPRC_HUMAN			5	479	+			100			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.299C>T		.	.	.	.	.	.	.	.	.	.	C	11.81	1.749694	0.30955	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000418674	T	0.02837	4.14	5.09	2.04	0.26737	.	2.218800	0.02121	N	0.055613	T	0.03477	0.0100	L	0.33485	1.01	0.09310	N	1	B;B;B;B;B;B	0.09022	0.001;0.0;0.001;0.002;0.001;0.002	B;B;B;B;B;B	0.06405	0.002;0.001;0.001;0.002;0.001;0.001	T	0.41305	-0.9516	10	0.44086	T	0.13	.	5.3679	0.16123	0.1585:0.6616:0.0:0.1799	.	36;36;36;141;100;100	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	L	102;36;100;100;141;34;100;34;100	ENSP00000193532:S100L	ENSP00000271610:S141L	S	+	2	0	PTPRC	196935322	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.193000	0.17116	0.493000	0.27837	0.555000	0.69702	TCA		0.488	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				4	72	0	0	0	0	4	72				
KIF14	9928	broad.mit.edu	37	1	200587425	200587425	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:200587425T>C	ENST00000367350.4	-	2	865	c.427A>G	c.(427-429)Atg>Gtg	p.M143V		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	143	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCAGTGTCATTTTGACAGAA	0.348																																						uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(427-429)ATG>GTG		kinesin family member 14							89.0	93.0	92.0					1																	200587425		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587425T>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.427A>G	1.37:g.200587425T>C	ENSP00000356319:p.Met143Val					KIF14_uc010ppj.1_5'UTR	p.M143V	NM_014875	NP_055690	Q15058	KIF14_HUMAN			2	866	-			143			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.427A>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843071	0.16963	.	.	ENSG00000118193	ENST00000367350	T	0.71698	-0.59	5.61	2.05	0.26809	.	.	.	.	.	T	0.47078	0.1426	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.25152	-1.0140	9	0.07175	T	0.84	.	8.4393	0.32805	0.0:0.2864:0.0:0.7136	.	143	Q15058	KIF14_HUMAN	V	143	ENSP00000356319:M143V	ENSP00000356319:M143V	M	-	1	0	KIF14	198854048	0.437000	0.25593	0.000000	0.03702	0.013000	0.08279	1.409000	0.34680	0.095000	0.17434	0.533000	0.62120	ATG		0.348	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		5	58	0	0	0	0	5	58				
TTC13	79573	broad.mit.edu	37	1	231061288	231061288	+	Silent	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:231061288G>A	ENST00000366661.4	-	13	1570	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	TTC13_ENST00000414259.1_Silent_p.F468F|TTC13_ENST00000366662.4_Silent_p.F468F	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	521										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TGTTTGGCAGGAAACCAGGTG	0.408																																						uc001huf.3		NA																	0				ovary(1)|skin(1)	2						c.(1561-1563)TTC>TTT		tetratricopeptide repeat domain 13 isoform a							118.0	114.0	115.0					1																	231061288		2203	4300	6503	SO:0001819	synonymous_variant	79573						binding	g.chr1:231061288G>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1563C>T	1.37:g.231061288G>A						TTC13_uc009xfi.2_Silent_p.F468F|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Silent_p.F468F|TTC13_uc009xfk.1_Silent_p.F411F	p.F521F	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	13	1594	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	521					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	c.1563C>T	CCDS1588.1																																																																																				0.408	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		6	62	0	0	0	0	6	62				
SH3BP5L	80851	broad.mit.edu	37	1	249108682	249108682	+	Missense_Mutation	SNP	G	G	A	rs151290329		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:249108682G>A	ENST00000366472.5	-	5	1732	c.503C>T	c.(502-504)aCg>aTg	p.T168M	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.T136M|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	168										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTCCTGCCACGTGGGGTCCAG	0.592																																						uc001iew.1		NA																	0					0						c.(502-504)ACG>ATG		SH3-binding domain protein 5-like		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	106.0	76.0	86.0		503	5.2	1.0	1	dbSNP_134	86	0,8600		0,0,4300	no	missense	SH3BP5L	NM_030645.1	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	168/394	249108682	1,13005	2203	4300	6503	SO:0001583	missense	80851							g.chr1:249108682G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.503C>T	1.37:g.249108682G>A	ENSP00000355428:p.Thr168Met					SH3BP5L_uc010pzp.1_Missense_Mutation_p.T61M|SH3BP5L_uc010pzq.1_Missense_Mutation_p.T136M|SH3BP5L_uc001iev.1_Missense_Mutation_p.T49M	p.T168M	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		5	1055	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	168					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.503C>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837924	0.91117	2.27E-4	0.0	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.78246	-1.16	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.86301	0.5900	M	0.62723	1.935	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.986;0.973;0.984	D	0.87064	0.2155	10	0.62326	D	0.03	-10.5018	16.5395	0.84381	0.0:0.0:1.0:0.0	.	136;61;168;26	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	M	168;136	ENSP00000412203:T136M	ENSP00000355428:T168M	T	-	2	0	SH3BP5L	247075305	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	8.566000	0.90734	2.578000	0.87016	0.650000	0.86243	ACG		0.592	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		3	41	0	0	0	0	3	41				
DNMBP	23268	broad.mit.edu	37	10	101657950	101657950	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr10:101657950T>A	ENST00000324109.4	-	9	2904	c.2813A>T	c.(2812-2814)aAt>aTt	p.N938I	DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000342239.3_Missense_Mutation_p.N938I|DNMBP_ENST00000543621.1_Missense_Mutation_p.N184I	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	938	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGGGGTGGAATTCAGCAACTC	0.438																																						uc001kqj.2		NA																	0				ovary(5)|skin(1)	6						c.(2812-2814)AAT>ATT		dynamin binding protein							125.0	112.0	117.0					10																	101657950		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101657950T>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2813A>T	10.37:g.101657950T>A	ENSP00000315659:p.Asn938Ile					DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.N226I|DNMBP_uc001kqh.2_Missense_Mutation_p.N570I	p.N938I	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	9	2905	-		Colorectal(252;0.234)	938			DH.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.2813A>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.736131	0.69189	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.44881	0.91;2.25;2.25	5.57	5.57	0.84162	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.134551	0.33753	N	0.004597	T	0.46132	0.1377	M	0.79693	2.465	0.80722	D	1	P;B;P	0.45348	0.731;0.377;0.856	B;B;B	0.42827	0.32;0.143;0.399	T	0.52873	-0.8517	10	0.51188	T	0.08	-15.9888	7.9306	0.29899	0.0:0.1581:0.0:0.8419	.	938;184;938	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	I	938;938;184;184	ENSP00000344914:N938I;ENSP00000315659:N938I;ENSP00000443657:N184I	ENSP00000315659:N938I	N	-	2	0	DNMBP	101647940	0.972000	0.33761	1.000000	0.80357	0.993000	0.82548	1.634000	0.37123	2.105000	0.64084	0.459000	0.35465	AAT		0.438	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		11	73	0	0	0	0	11	73				
TTC17	55761	broad.mit.edu	37	11	43513699	43513699	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:43513699G>T	ENST00000039989.4	+	23	3294	c.3280G>T	c.(3280-3282)Gtc>Ttc	p.V1094F		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1094					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGGGCAATGTCTACGTGGC	0.478																																						uc001mxi.2		NA																	0				ovary(5)	5						c.(3280-3282)GTC>TTC		tetratricopeptide repeat domain 17							219.0	168.0	185.0					11																	43513699		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43513699G>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3280G>T	11.37:g.43513699G>T	ENSP00000039989:p.Val1094Phe					TTC17_uc010rfj.1_Missense_Mutation_p.V1094F|TTC17_uc001mxl.2_Missense_Mutation_p.V150F|TTC17_uc001mxm.2_Missense_Mutation_p.V75F	p.V1094F	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			23	3294	+			1094			TPR 6.		G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.3280G>T	CCDS31466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.303396|4.303396	0.81136|0.81136	.|.	.|.	ENSG00000052841|ENSG00000052841	ENST00000418561|ENST00000039989	.|T	.|0.64260	.|-0.09	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.063874	.|0.64402	.|D	.|0.000007	T|T	0.71239|0.71239	0.3316|0.3316	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.64830	.|0.994	.|D	.|0.66497	.|0.944	T|T	0.72228|0.72228	-0.4354|-0.4354	5|10	.|0.56958	.|D	.|0.05	-16.2966|-16.2966	17.8183|17.8183	0.88642|0.88642	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1094	.|Q96AE7	.|TTC17_HUMAN	I|F	124|1094	.|ENSP00000039989:V1094F	.|ENSP00000039989:V1094F	M|V	+|+	3|1	0|0	TTC17|TTC17	43470275|43470275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.638000|0.638000	0.38207|0.38207	7.616000|7.616000	0.83018|0.83018	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	ATG|GTC		0.478	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		9	86	1	0	1.13e-05	1.22e-05	9	86				
OR5B12	390191	broad.mit.edu	37	11	58207492	58207492	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:58207492C>G	ENST00000302572.2	-	1	154	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGAATCAATTCAATCATCCCC	0.488																																						uc010rkh.1		NA																	0					0						c.(133-135)GAA>CAA		olfactory receptor, family 5, subfamily B,							74.0	83.0	80.0					11																	58207492		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207492C>G	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.133G>C	11.37:g.58207492C>G	ENSP00000306657:p.Glu45Gln						p.E45Q	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	133	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	45			Cytoplasmic (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.133G>C	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	4.685	0.127323	0.08981	.	.	ENSG00000172362	ENST00000302572	T	0.01076	5.37	4.57	-0.925	0.10458	GPCR, rhodopsin-like superfamily (1);	2.778420	0.01647	N	0.024372	T	0.00724	0.0024	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48139	-0.9061	10	0.59425	D	0.04	-8.8338	1.2562	0.01992	0.1365:0.3615:0.2519:0.2501	.	45	Q96R08	OR5BC_HUMAN	Q	45	ENSP00000306657:E45Q	ENSP00000306657:E45Q	E	-	1	0	OR5B12	57964068	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-4.105000	0.00294	-0.227000	0.09884	0.561000	0.74099	GAA		0.488	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		5	49	0	0	0	0	5	49				
SNX15	29907	broad.mit.edu	37	11	64802351	64802351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:64802351C>T	ENST00000377244.3	+	4	419	c.289C>T	c.(289-291)Cga>Tga	p.R97*	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Nonsense_Mutation_p.R97*	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	97	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)	p.R97*(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CGAGGAGCGGCGAAAGGGGGC	0.622																																					Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.3		NA																	1	Substitution - Nonsense(1)		endometrium(1)	ovary(1)	1						c.(289-291)CGA>TGA		sorting nexin 15 isoform A							69.0	66.0	67.0					11																	64802351		2201	4297	6498	SO:0001587	stop_gained	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64802351C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.289C>T	11.37:g.64802351C>T	ENSP00000366452:p.Arg97*					SNX15_uc009ypy.2_Nonsense_Mutation_p.R97*|SNX15_uc001ocj.2_Nonsense_Mutation_p.R97*|SNX15_uc001ock.2_Nonsense_Mutation_p.R97*	p.R97*	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			7	942	+			97			PX.		E5KQS6|Q9NRS5	Nonsense_Mutation	SNP	ENST00000377244.3	37	c.289C>T	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714135	0.30413	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	.	.	.	5.38	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3631	7.6994	0.28613	0.3293:0.511:0.1598:0.0	.	.	.	.	X	97;93;85;97	.	ENSP00000316410:R97X	R	+	1	2	SNX15	64558927	1.000000	0.71417	0.996000	0.52242	0.085000	0.17905	1.149000	0.31626	1.234000	0.43709	0.557000	0.71058	CGA		0.622	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			4	48	0	0	0	0	4	48				
MMP7	4316	broad.mit.edu	37	11	102401427	102401427	+	Missense_Mutation	SNP	C	C	T	rs369414554		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:102401427C>T	ENST00000260227.4	-	1	57	c.5G>A	c.(4-6)cGa>cAa	p.R2Q		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	2					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R2Q(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	CACGGTGAGTCGCATAGCTGC	0.547																																						uc001phb.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(4-6)CGA>CAA		matrix metalloproteinase 7 preproprotein		C	GLN/ARG	0,4406		0,0,2203	64.0	55.0	58.0		5	-10.0	0.0	11		58	1,8597	1.2+/-3.3	0,1,4298	no	missense	MMP7	NM_002423.3	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	2/268	102401427	1,13003	2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102401427C>T	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.5G>A	11.37:g.102401427C>T	ENSP00000260227:p.Arg2Gln					MMP7_uc009yxd.2_Missense_Mutation_p.R2Q|MMP7_uc010rus.1_Missense_Mutation_p.R2Q	p.R2Q	NM_002423	NP_002414	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	1	52	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	2					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.5G>A	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	C	4.980	0.181930	0.09495	0.0	1.16E-4	ENSG00000137673	ENST00000260227	T	0.22743	1.94	4.98	-9.96	0.00443	.	3.324910	0.00957	N	0.003047	T	0.06781	0.0173	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.04013	0.0;0.001;0.0	T	0.17961	-1.0352	10	0.18710	T	0.47	-15.1091	6.0156	0.19601	0.0901:0.456:0.0913:0.3625	.	2;2;2	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	Q	2	ENSP00000260227:R2Q	ENSP00000260227:R2Q	R	-	2	0	MMP7	101906637	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.227000	0.01210	-2.462000	0.00535	-1.105000	0.02106	CGA		0.547	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			5	50	0	0	0	0	5	50				
DSCAML1	57453	broad.mit.edu	37	11	117335745	117335745	+	Missense_Mutation	SNP	C	C	T	rs372736535		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:117335745C>T	ENST00000321322.6	-	17	3359	c.3358G>A	c.(3358-3360)Gcc>Acc	p.A1120T	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A850T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1060	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCATACTGGGCGAACTTCTTG	0.622																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3358-3360)GCC>ACC		Down syndrome cell adhesion molecule like 1							139.0	109.0	119.0					11																	117335745		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117335745C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3358G>A	11.37:g.117335745C>T	ENSP00000315465:p.Ala1120Thr						p.A1120T	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	17	3360	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1060			Extracellular (Potential).|Fibronectin type-III 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3358G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	8.953	0.968626	0.18659	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.49139	0.79;0.79	4.67	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13157	0.0319	N	0.00131	-2.04	0.80722	D	1	B	0.29270	0.24	B	0.28916	0.096	T	0.47686	-0.9098	9	0.02654	T	1	.	17.7623	0.88468	0.0:1.0:0.0:0.0	.	1060	Q8TD84	DSCL1_HUMAN	T	850;1120;827	ENSP00000434335:A850T;ENSP00000315465:A1120T	ENSP00000315465:A1120T	A	-	1	0	DSCAML1	116840955	0.998000	0.40836	0.994000	0.49952	0.982000	0.71751	3.814000	0.55643	2.423000	0.82170	0.561000	0.74099	GCC		0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	92	0	0	0	0	6	92				
PCED1B	91523	broad.mit.edu	37	12	47472579	47472579	+	5'Flank	SNP	C	C	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:47472579C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Silent_p.L69L|AMIGO2_ENST00000429635.1_Silent_p.L69L|AMIGO2_ENST00000266581.4_Silent_p.L69L|AMIGO2_ENST00000321382.3_Silent_p.L69L			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										GTCTCTTAATCAGTCTGAAAA	0.493																																						uc001rpm.2		NA																	0				ovary(1)|skin(1)	2						c.(205-207)CTG>CTA		adhesion molecule with Ig-like domain 2							81.0	83.0	82.0					12																	47472579		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472579C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472579C>T	Exception_encountered					FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.L69L|AMIGO2_uc001rpl.2_Silent_p.L69L	p.L69L	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN			3	862	-	Renal(347;0.138)|Lung SC(27;0.192)		69			Extracellular (Potential).|LRR 1.		Q96B20	Silent	SNP	ENST00000546455.1	37	c.207G>A	CCDS8752.1																																																																																				0.493	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		7	66	0	0	0	0	7	66				
VDR	7421	broad.mit.edu	37	12	48238570	48238570	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:48238570T>C	ENST00000395324.2	-	10	1511	c.1243A>G	c.(1243-1245)Acg>Gcg	p.T415A	VDR_ENST00000229022.3_Missense_Mutation_p.T415A|VDR_ENST00000549336.1_Missense_Mutation_p.T415A|VDR_ENST00000550325.1_Missense_Mutation_p.T465A|VDR_ENST00000535672.1_Missense_Mutation_p.T383A			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	415	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACAAGGGGCGTTAGCTTCATG	0.607																																						uc001rqm.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1243-1245)ACG>GCG		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						104.0	90.0	95.0					12																	48238570		2203	4300	6503	SO:0001583	missense	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48238570T>C	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1243A>G	12.37:g.48238570T>C	ENSP00000378734:p.Thr415Ala					VDR_uc001rql.2_Missense_Mutation_p.T465A|VDR_uc001rqn.2_Missense_Mutation_p.T415A|VDR_uc010slq.1_Missense_Mutation_p.T383A	p.T415A	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	11	1525	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	415			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.1243A>G	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.035214	0.75617	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	4.26	4.26	0.50523	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.051744	0.85682	D	0.000000	D	0.96262	0.8781	M	0.70595	2.14	0.58432	D	0.999999	D;D;D	0.69078	0.988;0.986;0.997	D;P;D	0.66979	0.926;0.877;0.948	D	0.96474	0.9351	10	0.72032	D	0.01	.	12.6312	0.56659	0.0:0.0:0.0:1.0	.	383;415;465	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	A	415;415;415;465;383	ENSP00000378734:T415A;ENSP00000229022:T415A;ENSP00000449573:T415A;ENSP00000447173:T465A;ENSP00000442145:T383A	ENSP00000229022:T415A	T	-	1	0	VDR	46524837	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.827000	0.69300	1.926000	0.55796	0.375000	0.23000	ACG		0.607	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			4	31	0	0	0	0	4	31				
TENC1	23371	broad.mit.edu	37	12	53455639	53455639	+	Silent	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:53455639G>A	ENST00000314250.6	+	22	3779	c.3489G>A	c.(3487-3489)ctG>ctA	p.L1163L	TENC1_ENST00000379902.3_Silent_p.L1039L|TENC1_ENST00000552570.1_Silent_p.L1163L|TENC1_ENST00000546602.1_Silent_p.L1066L|TENC1_ENST00000549700.1_Silent_p.L1098L|TENC1_ENST00000451358.1_Silent_p.L1153L|TENC1_ENST00000314276.3_Silent_p.L1173L	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1163	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGGCCTTCCTGATCAGGGACA	0.617																																						uc001sbp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(3487-3489)CTG>CTA		tensin like C1 domain containing phosphatase							94.0	104.0	100.0					12																	53455639		2203	4300	6503	SO:0001819	synonymous_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53455639G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3489G>A	12.37:g.53455639G>A						TENC1_uc001sbl.2_Silent_p.L1039L|TENC1_uc001sbn.2_Silent_p.L1173L|TENC1_uc001sbq.2_Silent_p.L561L|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Silent_p.L658L|TENC1_uc001sbs.2_5'UTR	p.L1163L	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			22	3624	+			1163			SH2.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	c.3489G>A	CCDS8843.1																																																																																				0.617	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		12	139	0	0	0	0	12	139				
RARG	5916	broad.mit.edu	37	12	53609131	53609131	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:53609131G>A	ENST00000425354.2	-	5	908	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	RARG_ENST00000543726.1_Missense_Mutation_p.R119C|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.R69C|RARG_ENST00000394426.1_Missense_Mutation_p.R141C|RARG_ENST00000338561.5_Missense_Mutation_p.R130C	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	141					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TACTGGCAGCGATTCCTGGTC	0.552																																						uc001sce.2		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(421-423)CGC>TGC		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						228.0	180.0	196.0					12																	53609131		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53609131G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.421C>T	12.37:g.53609131G>A	ENSP00000388510:p.Arg141Cys					RARG_uc001scd.2_Missense_Mutation_p.R130C|RARG_uc010sob.1_Missense_Mutation_p.R119C|RARG_uc001scf.2_Missense_Mutation_p.R141C|RARG_uc001scg.2_Missense_Mutation_p.R69C|RARG_uc010soc.1_Missense_Mutation_p.R20C|RARG_uc010sod.1_Missense_Mutation_p.R178C	p.R141C	NM_000966	NP_000957	P13631	RARG_HUMAN			5	906	-			141			NR C4-type.|Nuclear receptor.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.421C>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578278	0.45902	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45	4.45	2.48	0.30137	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.88842	2.985	0.80722	D	1	P;D;D;P	0.89917	0.851;1.0;1.0;0.88	B;D;D;P	0.91635	0.399;0.997;0.999;0.563	D	0.98917	1.0782	10	0.87932	D	0	.	12.8106	0.57637	0.0:0.0:0.7081:0.2919	.	178;119;141;130	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	C	141;141;69;130;119;178	ENSP00000388510:R141C;ENSP00000377947:R141C;ENSP00000332695:R69C;ENSP00000343698:R130C;ENSP00000444335:R119C	ENSP00000332695:R69C	R	-	1	0	RARG	51895398	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	6.354000	0.73036	1.239000	0.43787	-0.196000	0.12772	CGC		0.552	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		8	85	0	0	0	0	8	85				
IFT81	28981	broad.mit.edu	37	12	110574583	110574583	+	Silent	SNP	A	A	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:110574583A>G	ENST00000242591.5	+	8	1205	c.699A>G	c.(697-699)ctA>ctG	p.L233L	IFT81_ENST00000552912.1_Silent_p.L233L|IFT81_ENST00000361948.4_Silent_p.L233L	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	233					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TTTTAAAGCTATTTCATGCAG	0.348																																						uc001tqi.2		NA																	0				ovary(1)	1						c.(697-699)CTA>CTG		intraflagellar transport 81-like isoform 1							40.0	43.0	42.0					12																	110574583		2203	4300	6503	SO:0001819	synonymous_variant	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110574583A>G	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.699A>G	12.37:g.110574583A>G						IFT81_uc001tqh.2_Silent_p.L233L|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Silent_p.L233L	p.L233L	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			8	829	+			233			Potential.		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Silent	SNP	ENST00000242591.5	37	c.699A>G	CCDS41831.1																																																																																				0.348	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		3	21	0	0	0	0	3	21				
AKAP6	9472	broad.mit.edu	37	14	33292535	33292535	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr14:33292535C>G	ENST00000280979.4	+	13	5686	c.5516C>G	c.(5515-5517)cCc>cGc	p.P1839R	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1839			P -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGACCAATCCCTCTGATACT	0.373																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0		p.P1839T(1)		breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(5515-5517)CCC>CGC		A-kinase anchor protein 6							92.0	93.0	92.0					14																	33292535		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292535C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5516C>G	14.37:g.33292535C>G	ENSP00000280979:p.Pro1839Arg						p.P1839R	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5686	+	Breast(36;0.0388)|Prostate(35;0.15)		1839		P -> T (in a colorectal cancer sample; somatic mutation).			A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5516C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.394020	0.25205	.	.	ENSG00000151320	ENST00000280979	T	0.04603	3.59	5.37	5.37	0.77165	.	0.422652	0.23746	N	0.044968	T	0.06554	0.0168	L	0.50333	1.59	0.80722	D	1	P	0.39216	0.664	B	0.29942	0.109	T	0.16276	-1.0408	10	0.87932	D	0	-1.0307	17.2628	0.87075	0.0:1.0:0.0:0.0	.	1839	Q13023	AKAP6_HUMAN	R	1839	ENSP00000280979:P1839R	ENSP00000280979:P1839R	P	+	2	0	AKAP6	32362286	0.828000	0.29307	0.998000	0.56505	0.928000	0.56348	4.667000	0.61561	2.511000	0.84671	0.650000	0.86243	CCC		0.373	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		4	75	0	0	0	0	4	75				
SLC8A3	6547	broad.mit.edu	37	14	70633915	70633915	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr14:70633915C>G	ENST00000381269.2	-	2	1978	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	SLC8A3_ENST00000534137.1_Missense_Mutation_p.E409Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E409Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E409Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E409Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	409	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCACAGTTCTCCAGGCACTGG	0.512																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1225-1227)GAG>CAG		solute carrier family 8 (sodium/calcium							106.0	103.0	104.0					14																	70633915		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633915C>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1225G>C	14.37:g.70633915C>G	ENSP00000370669:p.Glu409Gln					SLC8A3_uc001xlw.2_Missense_Mutation_p.E409Q|SLC8A3_uc001xlx.2_Missense_Mutation_p.E409Q|SLC8A3_uc001xlz.2_Missense_Mutation_p.E409Q|SLC8A3_uc010ara.2_RNA	p.E409Q	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1979	-			409			Calx-beta 1.|Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1225G>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737752	0.69304	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.83	5.83	0.93111	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.87661	0.6233	H	0.97707	4.06	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.997;0.997	D	0.91317	0.5079	10	0.87932	D	0	.	20.1242	0.97973	0.0:1.0:0.0:0.0	.	409;409;409;409	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Q	409	ENSP00000349392:E409Q;ENSP00000370669:E409Q;ENSP00000350560:E409Q;ENSP00000436688:E409Q;ENSP00000433531:E409Q	ENSP00000349392:E409Q	E	-	1	0	SLC8A3	69703668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.744000	0.94065	0.643000	0.83706	GAG		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			15	106	0	0	0	0	15	106				
YY1	7528	broad.mit.edu	37	14	100728656	100728656	+	Missense_Mutation	SNP	T	T	C	rs377175446		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr14:100728656T>C	ENST00000262238.4	+	2	955	c.695T>C	c.(694-696)aTt>aCt	p.I232T	RP11-638I2.2_ENST00000555212.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	232					anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AAAAAAGATATTGACCATGAG	0.333																																						uc001ygy.1		NA																	0					0						c.(694-696)ATT>ACT		YY1 transcription factor		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	62.0	63.0	63.0		695	5.7	1.0	14		63	0,8600		0,0,4300	no	missense	YY1	NM_003403.3	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	232/415	100728656	1,13005	2203	4300	6503	SO:0001583	missense	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100728656T>C	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.695T>C	14.37:g.100728656T>C	ENSP00000262238:p.Ile232Thr						p.I232T	NM_003403	NP_003394	P25490	TYY1_HUMAN			2	1175	+		Melanoma(154;0.152)	232					Q14935	Missense_Mutation	SNP	ENST00000262238.4	37	c.695T>C	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.883005	0.33255	2.27E-4	0.0	ENSG00000100811	ENST00000262238	T	0.11385	2.78	5.7	5.7	0.88788	.	0.196550	0.42420	U	0.000704	T	0.06508	0.0167	N	0.08118	0	0.46028	D	0.998826	B	0.21753	0.06	B	0.23150	0.044	T	0.38887	-0.9640	10	0.11794	T	0.64	.	16.3142	0.82909	0.0:0.0:0.0:1.0	.	232	P25490	TYY1_HUMAN	T	232	ENSP00000262238:I232T	ENSP00000262238:I232T	I	+	2	0	YY1	99798409	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.313000	0.78055	0.454000	0.30748	ATT		0.333	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		4	47	0	0	0	0	4	47				
ATP10A	57194	broad.mit.edu	37	15	26026297	26026297	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr15:26026297C>T	ENST00000356865.6	-	2	634	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	175					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E175K(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGAAGATTTCGTTGCAGCGA	0.498																																						uc010ayu.2		NA																	1	Substitution - Missense(1)		skin(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(523-525)GAA>AAA		ATPase, class V, type 10A							108.0	107.0	107.0					15																	26026297		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026297C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.523G>A	15.37:g.26026297C>T	ENSP00000349325:p.Glu175Lys						p.E175K	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	2	629	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	175			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.523G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486321	0.84854	.	.	ENSG00000206190	ENST00000356865	D	0.91237	-2.81	4.67	4.67	0.58626	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	H	0.94620	3.56	0.80722	D	1	D	0.65815	0.995	P	0.58820	0.846	D	0.96827	0.9608	10	0.56958	D	0.05	-29.1414	16.7413	0.85460	0.0:1.0:0.0:0.0	.	175	O60312	AT10A_HUMAN	K	175	ENSP00000349325:E175K	ENSP00000349325:E175K	E	-	1	0	ATP10A	23577390	1.000000	0.71417	0.952000	0.39060	0.201000	0.24016	7.356000	0.79445	2.428000	0.82296	0.561000	0.74099	GAA		0.498	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		3	33	0	0	0	0	3	33				
TLN2	83660	broad.mit.edu	37	15	62942335	62942335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr15:62942335G>A	ENST00000561311.1	+	4	419	c.189G>A	c.(187-189)tgG>tgA	p.W63*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.W63*			Q9Y4G6	TLN2_HUMAN	talin 2	63					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGGGATTTGGCTGGAAGCGG	0.478																																						uc002alb.3		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(187-189)TGG>TGA		talin 2							142.0	131.0	135.0					15																	62942335		2203	4300	6503	SO:0001587	stop_gained	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62942335G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.189G>A	15.37:g.62942335G>A	ENSP00000453508:p.Trp63*						p.W63*	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			2	189	+			63					A6NLB8	Nonsense_Mutation	SNP	ENST00000561311.1	37	c.189G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	41	8.588546	0.98875	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2661	19.4659	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	X	63	.	ENSP00000303476:W63X	W	+	3	0	TLN2	60729627	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.409000	0.97331	2.840000	0.97914	0.655000	0.94253	TGG		0.478	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			7	87	0	0	0	0	7	87				
TRAP1	10131	broad.mit.edu	37	16	3736066	3736066	+	Silent	SNP	G	G	A	rs370910118		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr16:3736066G>A	ENST00000246957.5	-	4	490	c.402C>T	c.(400-402)gaC>gaT	p.D134D	TRAP1_ENST00000538171.1_Silent_p.D81D	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	134					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GTGCTTGGCCGTCAGACACCA	0.532																																						uc002cvt.3		NA																	0				central_nervous_system(1)	1						c.(400-402)GAC>GAT		TNF receptor-associated protein 1 precursor		G		0,4394		0,0,2197	199.0	140.0	160.0		402	-9.8	0.1	16		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRAP1	NM_016292.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		134/705	3736066	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3736066G>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.402C>T	16.37:g.3736066G>A						TRAP1_uc010uxf.1_Silent_p.D81D	p.D134D	NM_016292	NP_057376	Q12931	TRAP1_HUMAN			4	491	-		Ovarian(90;0.0261)	134					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	c.402C>T	CCDS10508.1																																																																																				0.532	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		4	58	0	0	0	0	4	58				
ZKSCAN2	342357	broad.mit.edu	37	16	25255343	25255343	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr16:25255343G>C	ENST00000328086.7	-	6	2547	c.1744C>G	c.(1744-1746)Ctg>Gtg	p.L582V		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	582					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GAGTTAATCAGGGCATCCATC	0.532																																						uc002dod.3		NA																	0				ovary(3)|breast(1)	4						c.(1744-1746)CTG>GTG		zinc finger with KRAB and SCAN domains 2							111.0	103.0	106.0					16																	25255343		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255343G>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1744C>G	16.37:g.25255343G>C	ENSP00000331626:p.Leu582Val					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.L378V	p.L582V	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2151	-			582					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1744C>G	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433892	0.62955	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.51071	0.72	5.48	3.5	0.40072	.	0.000000	0.48286	D	0.000191	T	0.64483	0.2602	M	0.74389	2.26	0.29703	N	0.840005	D;D	0.71674	0.998;0.998	D;D	0.76575	0.976;0.988	T	0.63060	-0.6721	10	0.87932	D	0	-12.5653	9.0065	0.36115	0.1731:0.0:0.8269:0.0	.	378;582	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	V	582	ENSP00000331626:L582V	ENSP00000331626:L582V	L	-	1	2	ZKSCAN2	25162844	1.000000	0.71417	0.985000	0.45067	0.931000	0.56810	1.910000	0.39927	0.782000	0.33613	0.655000	0.94253	CTG		0.532	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		7	59	0	0	0	0	7	59				
ZNF668	79759	broad.mit.edu	37	16	31075507	31075507	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr16:31075507C>G	ENST00000538906.1	-	2	1058	c.274G>C	c.(274-276)Gcc>Ccc	p.A92P	ZNF668_ENST00000300849.4_Missense_Mutation_p.A92P|ZNF668_ENST00000394983.2_Missense_Mutation_p.A92P|ZNF668_ENST00000535577.1_Missense_Mutation_p.A92P|ZNF668_ENST00000539836.3_Missense_Mutation_p.A115P|ZNF668_ENST00000426488.2_Missense_Mutation_p.A115P|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTCTTGTAGGCCTTGGGGCAT	0.667																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2		NA																	0				breast(4)	4						c.(274-276)GCC>CCC		zinc finger protein 668							63.0	56.0	58.0					16																	31075507		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075507C>G		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.274G>C	16.37:g.31075507C>G	ENSP00000440149:p.Ala92Pro					ZNF668_uc002eao.2_Missense_Mutation_p.A92P|ZNF668_uc010cag.1_Missense_Mutation_p.A92P	p.A92P	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			2	631	-			92			C2H2-type 2.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.274G>C	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737959	0.89573	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000442862;ENST00000417935	T;T;T;T;T;T;T	0.37235	2.33;2.33;2.33;2.33;2.33;1.21;1.5	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063541	0.64402	D	0.000008	T	0.35711	0.0941	N	0.19112	0.55	0.49687	D	0.999815	D	0.61080	0.989	P	0.53912	0.737	T	0.18618	-1.0331	10	0.87932	D	0	-22.4102	12.204	0.54342	0.1708:0.8292:0.0:0.0	.	92	Q96K58	ZN668_HUMAN	P	115;92;92;92;92;92;92	ENSP00000442573:A115P;ENSP00000441349:A92P;ENSP00000440149:A92P;ENSP00000378434:A92P;ENSP00000300849:A92P;ENSP00000416853:A92P;ENSP00000390671:A92P	ENSP00000300849:A92P	A	-	1	0	ZNF668	30983008	0.989000	0.36119	1.000000	0.80357	0.755000	0.42902	0.720000	0.25896	2.570000	0.86706	0.462000	0.41574	GCC		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		5	38	0	0	0	0	5	38				
MYH13	8735	broad.mit.edu	37	17	10209914	10209914	+	Silent	SNP	T	T	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr17:10209914T>C	ENST00000418404.3	-	36	5491	c.5328A>G	c.(5326-5328)gaA>gaG	p.E1776E	MYH13_ENST00000252172.4_Silent_p.E1776E|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1776					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGTGTCCTGTTCCTTCTTTA	0.577																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(5326-5328)GAA>GAG		myosin, heavy polypeptide 13, skeletal muscle							95.0	94.0	94.0					17																	10209914		2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209914T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5328A>G	17.37:g.10209914T>C							p.E1776E	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			37	5418	-			1776			Potential.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.5328A>G	CCDS45613.1																																																																																				0.577	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		9	96	0	0	0	0	9	96				
FAM83G	644815	broad.mit.edu	37	17	18882983	18882983	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr17:18882983G>T	ENST00000388995.6	-	4	917	c.694C>A	c.(694-696)Ctc>Atc	p.L232I	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.L232I|FAM83G_ENST00000585154.2_Missense_Mutation_p.L232I|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	232					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CGCACTCTGAGATTCTGTTTT	0.587																																						uc002guw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(694-696)CTC>ATC		hypothetical protein LOC644815							78.0	89.0	85.0					17																	18882983		1997	4175	6172	SO:0001583	missense	644815							g.chr17:18882983G>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.694C>A	17.37:g.18882983G>T	ENSP00000373647:p.Leu232Ile					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.L232I	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			4	861	-			232					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.694C>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844371	0.51164	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.14766	2.48;2.48	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.27063	0.0663	L	0.34521	1.04	0.53688	D	0.999971	D	0.53462	0.96	D	0.63597	0.916	T	0.00603	-1.1649	10	0.32370	T	0.25	-50.9847	19.48	0.95005	0.0:0.0:1.0:0.0	.	232	A6ND36	FA83G_HUMAN	I	232	ENSP00000373647:L232I;ENSP00000343279:L232I	ENSP00000343279:L232I	L	-	1	0	FAM83G	18823708	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.628000	0.83189	2.606000	0.88127	0.655000	0.94253	CTC		0.587	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			6	89	1	0	0.00448238	0.00475938	6	89				
VAV1	7409	broad.mit.edu	37	19	6829898	6829898	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:6829898A>T	ENST00000602142.1	+	14	1449	c.1367A>T	c.(1366-1368)gAt>gTt	p.D456V	VAV1_ENST00000304076.2_Missense_Mutation_p.D456V|VAV1_ENST00000599806.1_Missense_Mutation_p.D401V|VAV1_ENST00000596764.1_Missense_Mutation_p.D424V|VAV1_ENST00000539284.1_Missense_Mutation_p.D359V	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	456	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGGTTCGGGATGACTCTTCA	0.552																																						uc002mfu.1		NA																	0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1366-1368)GAT>GTT		vav 1 guanine nucleotide exchange factor							129.0	111.0	117.0					19																	6829898		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6829898A>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1367A>T	19.37:g.6829898A>T	ENSP00000472929:p.Asp456Val					VAV1_uc010xjh.1_Missense_Mutation_p.D424V|VAV1_uc010dva.1_Missense_Mutation_p.D456V|VAV1_uc002mfv.1_Missense_Mutation_p.D401V	p.D456V	NM_005428	NP_005419	P15498	VAV_HUMAN			14	1464	+			456			PH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1367A>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599797	0.66332	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.89196	-2.48;-2.48	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.93284	0.7860	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.99;0.985	D;D;D;D	0.91635	0.998;0.999;0.963;0.946	D	0.93508	0.6850	10	0.56958	D	0.05	.	12.8056	0.57612	1.0:0.0:0.0:0.0	.	359;456;401;456	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	V	456;359	ENSP00000302269:D456V;ENSP00000443242:D359V	ENSP00000302269:D456V	D	+	2	0	VAV1	6780898	1.000000	0.71417	0.984000	0.44739	0.615000	0.37417	5.328000	0.65887	1.979000	0.57680	0.533000	0.62120	GAT		0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			4	61	0	0	0	0	4	61				
KEAP1	9817	broad.mit.edu	37	19	10597384	10597384	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:10597384C>G	ENST00000171111.5	-	6	2366	c.1819G>C	c.(1819-1821)Gct>Cct	p.A607P	KEAP1_ENST00000393623.2_Missense_Mutation_p.A607P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	607					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ATGGTGACAGCCACGCCCACC	0.557																																						uc002moq.1		NA																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1819-1821)GCT>CCT		kelch-like ECH-associated protein 1							121.0	117.0	119.0					19																	10597384		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10597384C>G	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1819G>C	19.37:g.10597384C>G	ENSP00000171111:p.Ala607Pro					KEAP1_uc002mop.1_Missense_Mutation_p.A266P|KEAP1_uc002mor.1_Missense_Mutation_p.A607P	p.A607P	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		6	1975	-			607			Kelch 6.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1819G>C	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463049	0.84425	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.68624	-0.34;-0.34	5.9	5.9	0.94986	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.85978	0.5823	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88012	0.2763	10	0.66056	D	0.02	.	17.8179	0.88640	0.0:1.0:0.0:0.0	.	607	Q14145	KEAP1_HUMAN	P	607	ENSP00000171111:A607P;ENSP00000377245:A607P	ENSP00000171111:A607P	A	-	1	0	KEAP1	10458384	1.000000	0.71417	0.197000	0.23402	0.512000	0.34134	6.975000	0.76128	2.811000	0.96726	0.555000	0.69702	GCT		0.557	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		8	122	0	0	0	0	8	122				
ZNF563	147837	broad.mit.edu	37	19	12429679	12429679	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:12429679T>A	ENST00000293725.5	-	4	1365	c.1160A>T	c.(1159-1161)cAc>cTc	p.H387L		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACCTCCAGTGTGCATTATCAT	0.418																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NA																	0					0						c.(1159-1161)CAC>CTC		zinc finger protein 563							194.0	185.0	188.0					19																	12429679		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429679T>A	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1160A>T	19.37:g.12429679T>A	ENSP00000293725:p.His387Leu						p.H387L	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			4	1398	-			387			C2H2-type 9.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1160A>T	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044545	0.75732	.	.	ENSG00000188868	ENST00000293725	T	0.67345	-0.26	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83852	0.5344	H	0.95780	3.72	0.36107	D	0.844515	D	0.89917	1.0	D	0.91635	0.999	D	0.85453	0.1162	9	0.87932	D	0	.	7.4779	0.27387	0.0:0.0:0.0:1.0	.	387	Q8TA94	ZN563_HUMAN	L	387	ENSP00000293725:H387L	ENSP00000293725:H387L	H	-	2	0	ZNF563	12290679	1.000000	0.71417	0.349000	0.25694	0.699000	0.40488	4.293000	0.59037	0.699000	0.31761	0.260000	0.18958	CAC		0.418	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		13	144	0	0	0	0	13	144				
GADD45GIP1	90480	broad.mit.edu	37	19	13065144	13065144	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:13065144C>T	ENST00000316939.1	-	2	570	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	183					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						TCCTTCTTCTCTAGGTCCTGG	0.627																																						uc002mwb.2		NA																	0				ovary(1)|skin(1)	2						c.(547-549)GAG>AAG		growth arrest and DNA-damage-inducible, gamma							76.0	80.0	78.0					19																	13065144		2203	4300	6503	SO:0001583	missense	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065144C>T	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.547G>A	19.37:g.13065144C>T	ENSP00000323065:p.Glu183Lys						p.E183K	NM_052850	NP_443082	Q8TAE8	G45IP_HUMAN			2	571	-			183			Potential.		Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	c.547G>A	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227063	0.79576	.	.	ENSG00000179271	ENST00000316939	.	.	.	4.94	4.94	0.65067	.	0.058929	0.64402	D	0.000004	T	0.76399	0.3982	M	0.66378	2.025	0.58432	D	0.999994	D	0.58620	0.983	D	0.64237	0.923	T	0.79446	-0.1800	9	0.72032	D	0.01	-13.7091	16.9694	0.86295	0.0:1.0:0.0:0.0	.	183	Q8TAE8	G45IP_HUMAN	K	183	.	ENSP00000323065:E183K	E	-	1	0	GADD45GIP1	12926144	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.655000	0.74392	2.311000	0.77944	0.558000	0.71614	GAG		0.627	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		6	101	0	0	0	0	6	101				
CYTH2	9266	broad.mit.edu	37	19	48981788	48981788	+	Missense_Mutation	SNP	A	A	G	rs144064799		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:48981788A>G	ENST00000452733.2	+	11	1527	c.1051A>G	c.(1051-1053)Atg>Gtg	p.M351V	CYTH2_ENST00000427476.1_Missense_Mutation_p.M352V|CTC-273B12.8_ENST00000599877.1_lincRNA			Q99418	CYH2_HUMAN	cytohesin 2	352	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGGAAACCACATGGTGTACCG	0.592																																						uc002pjj.3		NA																	0				ovary(1)	1						c.(1054-1056)ATG>GTG		cytohesin 2 isoform 1		A	VAL/MET,VAL/MET	0,4406		0,0,2203	67.0	64.0	65.0		1051,1054	4.4	1.0	19	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYTH2	NM_004228.6,NM_017457.5	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	351/400,352/401	48981788	1,13005	2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48981788A>G	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.1051A>G	19.37:g.48981788A>G	ENSP00000408236:p.Met351Val					CYTH2_uc002pji.2_RNA	p.M352V	NM_017457	NP_059431	Q99418	CYH2_HUMAN			12	1354	+			352			PH.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.1054A>G	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197420	0.38806	0.0	1.16E-4	ENSG00000105443	ENST00000452733;ENST00000427476	T;T	0.74632	-0.86;-0.86	4.37	4.37	0.52481	.	0.096519	0.64402	D	0.000003	T	0.37156	0.0993	N	0.00182	-1.905	0.48830	D	0.999715	B	0.02656	0.0	B	0.01281	0.0	T	0.39143	-0.9628	10	0.27785	T	0.31	.	11.8456	0.52383	1.0:0.0:0.0:0.0	.	351	Q99418-2	.	V	351;352	ENSP00000408236:M351V;ENSP00000391648:M352V	ENSP00000391648:M352V	M	+	1	0	CYTH2	53673600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.933000	0.40153	1.958000	0.56883	0.533000	0.62120	ATG		0.592	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		3	54	0	0	0	0	3	54				
NUP62	23636	broad.mit.edu	37	19	50412820	50412820	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:50412820G>A	ENST00000596217.1	-	2	2132	c.245C>T	c.(244-246)gCt>gTt	p.A82V	NUP62_ENST00000597029.1_Missense_Mutation_p.A82V|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.A82V|IL4I1_ENST00000341114.3_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000597723.1_Missense_Mutation_p.A82V|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.A82V|NUP62_ENST00000352066.3_Missense_Mutation_p.A82V			P37198	NUP62_HUMAN	nucleoporin 62kDa	82	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCCCCCCGAAGCAAGAGTCGC	0.577																																						uc002pqx.2		NA																	0					0						c.(244-246)GCT>GTT		nucleoporin 62kDa							129.0	132.0	131.0					19																	50412820		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412820G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.245C>T	19.37:g.50412820G>A	ENSP00000471191:p.Ala82Val					IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.A82V|NUP62_uc002pqz.2_Missense_Mutation_p.A82V|NUP62_uc002pra.2_Missense_Mutation_p.A82V|NUP62_uc002prb.2_Missense_Mutation_p.A82V|NUP62_uc002prc.2_Missense_Mutation_p.A82V	p.A82V	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	349	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	82			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.245C>T	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409764	0.62399	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.43294	0.95;0.95;0.95	4.67	4.67	0.58626	Nucleoporin, NSP1-like, C-terminal (1);	0.596453	0.14032	U	0.346071	T	0.58119	0.2100	M	0.82323	2.585	0.80722	D	1	P;P	0.44521	0.837;0.748	P;B	0.50192	0.634;0.43	T	0.60870	-0.7177	10	0.56958	D	0.05	-3.7874	13.3819	0.60773	0.0:0.0:1.0:0.0	.	82;82	Q8WYU3;P37198	.;NUP62_HUMAN	V	82	ENSP00000305503:A82V;ENSP00000407331:A82V;ENSP00000387991:A82V	ENSP00000321866:A82V	A	-	2	0	NUP62	55104632	0.957000	0.32711	0.886000	0.34754	0.028000	0.11728	2.445000	0.44899	2.876000	0.98609	0.655000	0.94253	GCT		0.577	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		14	131	0	0	0	0	14	131				
KLF11	8462	broad.mit.edu	37	2	10186310	10186310	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr2:10186310G>A	ENST00000305883.1	+	2	238	c.76G>A	c.(76-78)Gag>Aag	p.E26K	KLF11_ENST00000535335.1_Missense_Mutation_p.E9K|KLF11_ENST00000540845.1_Missense_Mutation_p.E9K	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	26					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTCCATCCTGGAGAGGAAGCG	0.522																																					Melanoma(56;431 1507 23687 50789)	uc002raf.1		NA																	0				ovary(2)	2						c.(76-78)GAG>AAG		Kruppel-like factor 11							124.0	105.0	112.0					2																	10186310		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10186310G>A	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.76G>A	2.37:g.10186310G>A	ENSP00000307023:p.Glu26Lys					KLF11_uc010yjc.1_Missense_Mutation_p.E9K	p.E26K	NM_003597	NP_003588	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	2	238	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		26					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.76G>A	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939047	0.92526	.	.	ENSG00000172059	ENST00000401510;ENST00000305883;ENST00000448523;ENST00000540845;ENST00000440320;ENST00000535335	T;T;T;T;T;T	0.64618	-0.04;2.53;-0.11;2.53;-0.04;2.53	5.31	5.31	0.75309	.	0.159997	0.56097	D	0.000037	T	0.65852	0.2731	M	0.80422	2.495	0.47245	D	0.999366	B	0.34200	0.441	B	0.28553	0.091	T	0.71715	-0.4509	10	0.87932	D	0	.	18.966	0.92697	0.0:0.0:1.0:0.0	.	26	O14901	KLF11_HUMAN	K	9;26;9;9;9;9	ENSP00000386058:E9K;ENSP00000307023:E26K;ENSP00000387866:E9K;ENSP00000444690:E9K;ENSP00000388263:E9K;ENSP00000442722:E9K	ENSP00000307023:E26K	E	+	1	0	KLF11	10103761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.142000	0.77339	2.469000	0.83416	0.462000	0.41574	GAG		0.522	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		5	50	0	0	0	0	5	50				
PSD4	23550	broad.mit.edu	37	2	113950906	113950906	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr2:113950906G>T	ENST00000245796.6	+	8	2186	c.1991G>T	c.(1990-1992)aGa>aTa	p.R664I	PSD4_ENST00000441564.3_Missense_Mutation_p.R636I	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	664	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGTTCTCCAGACGCTTCCAC	0.597																																						uc002tjc.2		NA																	0				ovary(2)	2						c.(1990-1992)AGA>ATA		pleckstrin and Sec7 domain containing 4							64.0	66.0	66.0					2																	113950906		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113950906G>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1991G>T	2.37:g.113950906G>T	ENSP00000245796:p.Arg664Ile					PSD4_uc002tjd.2_Missense_Mutation_p.R285I|PSD4_uc002tje.2_Missense_Mutation_p.R635I|PSD4_uc002tjf.2_Missense_Mutation_p.R285I	p.R664I	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			8	2174	+			664			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1991G>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119128	0.56505	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.55234	0.53;0.53	5.28	-2.6	0.06190	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.618081	0.17813	N	0.161158	T	0.56352	0.1979	M	0.61703	1.905	0.35208	D	0.774849	P;P;P	0.42039	0.496;0.566;0.769	P;P;P	0.50314	0.637;0.477;0.611	T	0.65668	-0.6112	10	0.72032	D	0.01	.	11.6649	0.51368	0.7843:0.0:0.2157:0.0	.	322;636;664	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	I	664;636	ENSP00000245796:R664I;ENSP00000413997:R636I	ENSP00000245796:R664I	R	+	2	0	PSD4	113667377	0.000000	0.05858	0.746000	0.31095	0.496000	0.33645	0.027000	0.13621	-0.646000	0.05452	-0.136000	0.14681	AGA		0.597	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		4	62	1	0	0.00024832	0.000265155	4	62				
BMPR2	659	broad.mit.edu	37	2	203420620	203420620	+	Silent	SNP	T	T	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr2:203420620T>G	ENST00000374580.4	+	12	2771	c.2232T>G	c.(2230-2232)ccT>ccG	p.P744P	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	744					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGATCTATCCTCTCCCCAAGC	0.458																																						uc002uzf.3		NA																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(2230-2232)CCT>CCG		bone morphogenetic protein receptor type II							74.0	72.0	73.0					2																	203420620		2203	4300	6503	SO:0001819	synonymous_variant	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420620T>G	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2232T>G	2.37:g.203420620T>G						BMPR2_uc010ftr.2_Intron	p.P744P	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			12	3380	+			744			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	c.2232T>G	CCDS33361.1																																																																																				0.458	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		5	72	0	0	0	0	5	72				
MAFB	9935	broad.mit.edu	37	20	39317186	39317186	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr20:39317186A>G	ENST00000373313.2	-	1	694	c.305T>C	c.(304-306)cTg>cCg	p.L102P	MAFB_ENST00000396967.1_Missense_Mutation_p.L102P	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	102					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CTCGGGCGTCAGGTTGAGCGC	0.632			T	IGH@	MM																																	uc002xji.2		NA		Dom	yes		20	20q11.2-q13.1	9935	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)			L	IGH@		MM		0					0						c.(304-306)CTG>CCG		transcription factor MAFB							71.0	68.0	69.0					20																	39317186		2203	4300	6503	SO:0001583	missense	9935				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr20:39317186A>G	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.305T>C	20.37:g.39317186A>G	ENSP00000362410:p.Leu102Pro						p.L102P	NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN			1	691	-		Myeloproliferative disorder(115;0.00878)	102					B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	c.305T>C	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	a	18.48	3.633412	0.67015	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.90955	-2.76;-2.76	4.61	4.61	0.57282	Maf transcription factor, N-terminal (1);	0.083185	0.49916	N	0.000127	D	0.94394	0.8197	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.93495	0.6839	10	0.32370	T	0.25	-0.5336	13.6993	0.62599	1.0:0.0:0.0:0.0	.	102	Q9Y5Q3	MAFB_HUMAN	P	102	ENSP00000362410:L102P;ENSP00000380167:L102P	ENSP00000362410:L102P	L	-	2	0	MAFB	38750600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.168000	0.94781	1.726000	0.51525	0.370000	0.22315	CTG		0.632	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			3	62	0	0	0	0	3	62				
APCDD1L	164284	broad.mit.edu	37	20	57035940	57035940	+	Missense_Mutation	SNP	G	G	A	rs147052922	byFrequency	TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr20:57035940G>A	ENST00000371149.3	-	4	1642	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	APCDD1L_ENST00000439429.1_Missense_Mutation_p.S482L|APCDD1L_ENST00000491015.1_5'Flank	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	471						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTTCTGCAGCGATGGCCTGTG	0.627													G|||	7	0.00139776	0.0008	0.0	5008	,	,		17737	0.0		0.006	False		,,,				2504	0.0					uc002xze.1		NA																	0				ovary(1)	1						c.(1411-1413)TCG>TTG		adenomatosis polyposis coli down-regulated		G	LEU/SER	4,4402	8.1+/-20.4	0,4,2199	61.0	57.0	59.0		1412	-4.8	0.0	20	dbSNP_134	59	14,8586	10.5+/-38.8	0,14,4286	yes	missense	APCDD1L	NM_153360.1	145	0,18,6485	AA,AG,GG		0.1628,0.0908,0.1384	benign	471/502	57035940	18,12988	2203	4300	6503	SO:0001583	missense	164284					integral to membrane		g.chr20:57035940G>A	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1412C>T	20.37:g.57035940G>A	ENSP00000360191:p.Ser471Leu					APCDD1L_uc010zzp.1_Missense_Mutation_p.S482L	p.S471L	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1598	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		471						Missense_Mutation	SNP	ENST00000371149.3	37	c.1412C>T	CCDS13467.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	G	7.665	0.685756	0.14973	9.08E-4	0.001628	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.13657	2.59;2.57	3.52	-4.78	0.03209	.	3.709890	0.01001	N	0.003678	T	0.02304	0.0071	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30268	-0.9984	10	0.09590	T	0.72	.	0.8917	0.01255	0.2207:0.3241:0.2729:0.1823	.	482;471	F5H6V6;Q8NCL9	.;APCDL_HUMAN	L	471;482	ENSP00000360191:S471L;ENSP00000413261:S482L	ENSP00000360191:S471L	S	-	2	0	APCDD1L	56469346	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.862000	0.04263	-0.441000	0.07201	-0.752000	0.03492	TCG		0.627	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		4	63	0	0	0	0	4	63				
MRPL39	54148	broad.mit.edu	37	21	26972131	26972131	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr21:26972131C>G	ENST00000352957.4	-	5	609	c.568G>C	c.(568-570)Gat>Cat	p.D190H	MRPL39_ENST00000307301.7_Missense_Mutation_p.D190H	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	190						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ATCCACTCATCAAGTTTGCTA	0.348																																						uc002ylo.2		NA																	0					0						c.(568-570)GAT>CAT		mitochondrial ribosomal protein L39 isoform a							107.0	102.0	104.0					21																	26972131		2203	4300	6503	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26972131C>G	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.568G>C	21.37:g.26972131C>G	ENSP00000284967:p.Asp190His					MRPL39_uc002yln.2_Missense_Mutation_p.D190H	p.D190H	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN			5	582	-			190					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.568G>C	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403142	0.62288	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.50813	0.85;0.85;0.73	5.32	5.32	0.75619	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.047915	0.85682	D	0.000000	T	0.45034	0.1322	L	0.45228	1.405	0.58432	D	0.999995	B;B	0.33637	0.42;0.42	B;B	0.39876	0.312;0.312	T	0.44832	-0.9302	10	0.59425	D	0.04	-3.1165	11.6171	0.51096	0.0:0.9164:0.0:0.0836	.	190;190	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	H	190;190;180	ENSP00000284967:D190H;ENSP00000305682:D190H;ENSP00000404426:D180H	ENSP00000305682:D190H	D	-	1	0	MRPL39	25894002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.258000	0.51507	2.763000	0.94921	0.591000	0.81541	GAT		0.348	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		3	57	0	0	0	0	3	57				
UBE2G2	7327	broad.mit.edu	37	21	46193489	46193489	+	Silent	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr21:46193489G>A	ENST00000345496.2	-	5	628	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Silent_p.L92L	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	120					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K48-linked ubiquitination (GO:0070936)|protein N-linked glycosylation via asparagine (GO:0018279)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		ACCGACAGCAGGATCTTCTCC	0.637																																						uc002zfy.2		NA																	0				breast(3)|central_nervous_system(1)	4						c.(358-360)CTG>TTG		ubiquitin-conjugating enzyme E2G 2 isoform 1							87.0	61.0	70.0					21																	46193489		2203	4300	6503	SO:0001819	synonymous_variant	7327				protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr21:46193489G>A	BC008351	CCDS13714.1, CCDS33586.1	21q22.3	2011-05-19	2011-05-19		ENSG00000184787	ENSG00000184787		"""Ubiquitin-conjugating enzymes E2"""	12483	protein-coding gene	gene with protein product		603124	"""ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)"", ""ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)"""			9693041, 9925943	Standard	NM_003343		Approved	UBC7	uc002zfy.3	P60604	OTTHUMG00000089179	ENST00000345496.2:c.358C>T	21.37:g.46193489G>A						UBE2G2_uc002zfx.2_Silent_p.L92L	p.L120L	NM_003343	NP_003334	P60604	UB2G2_HUMAN		Colorectal(79;0.0638)	5	433	-			120					A6NMQ7|A8K3L4|D3DSL7|P56554	Silent	SNP	ENST00000345496.2	37	c.358C>T	CCDS13714.1																																																																																				0.637	UBE2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202647.2	NM_182688		4	35	0	0	0	0	4	35				
COL18A1	80781	broad.mit.edu	37	21	46875807	46875807	+	Silent	SNP	C	C	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr21:46875807C>T	ENST00000359759.4	+	1	384	c.363C>T	c.(361-363)atC>atT	p.I121I	COL18A1_ENST00000355480.5_Silent_p.I121I|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	121					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCAAAGGCATCCGGAGCTTCG	0.642																																						uc011afs.1		NA																	0				central_nervous_system(1)	1						c.(361-363)ATC>ATT		alpha 1 type XVIII collagen isoform 3 precursor							37.0	45.0	42.0					21																	46875807		2153	4247	6400	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875807C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.363C>T	21.37:g.46875807C>T						COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.I121I	p.I121I	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	384	+			121					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.363C>T																																																																																					0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			8	80	0	0	0	0	8	80				
MCM3AP	8888	broad.mit.edu	37	21	47700039	47700039	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr21:47700039T>A	ENST00000397708.1	-	5	1789	c.1535A>T	c.(1534-1536)aAa>aTa	p.K512I	MCM3AP_ENST00000291688.1_Missense_Mutation_p.K512I			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	512	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGAAAAGGGTTTCTTATTGGG	0.483																																						uc002zir.1		NA																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(1534-1536)AAA>ATA		minichromosome maintenance complex component 3							119.0	128.0	125.0					21																	47700039		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47700039T>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1535A>T	21.37:g.47700039T>A	ENSP00000380820:p.Lys512Ile						p.K512I	NM_003906	NP_003897	O60318	MCM3A_HUMAN			4	1571	-	Breast(49;0.112)		512					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.1535A>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541183	0.65085	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.05258	3.47;3.47	5.12	5.12	0.69794	.	0.129958	0.64402	D	0.000002	T	0.15219	0.0367	L	0.59436	1.845	0.39253	D	0.964074	D	0.69078	0.997	P	0.59012	0.85	T	0.00867	-1.1534	10	0.59425	D	0.04	-28.4651	8.396	0.32557	0.0:0.0941:0.0:0.9059	.	512	O60318	MCM3A_HUMAN	I	512	ENSP00000380820:K512I;ENSP00000291688:K512I	ENSP00000291688:K512I	K	-	2	0	MCM3AP	46524467	0.969000	0.33509	0.885000	0.34714	0.774000	0.43823	1.782000	0.38654	2.149000	0.67028	0.533000	0.62120	AAA		0.483	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		8	126	0	0	0	0	8	126				
C22orf29	79680	broad.mit.edu	37	22	19839545	19839545	+	Silent	SNP	A	A	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr22:19839545A>T	ENST00000405640.1	-	2	908	c.240T>A	c.(238-240)ggT>ggA	p.G80G	GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000407472.1_Silent_p.G80G|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Silent_p.G80G|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	80					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CAGCTAGGGGACCCCTTTCTG	0.627																																						uc002zqg.2		NA																	0					0						c.(238-240)GGT>GGA		hypothetical protein LOC79680							62.0	59.0	60.0					22																	19839545		2203	4300	6503	SO:0001819	synonymous_variant	79680							g.chr22:19839545A>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.240T>A	22.37:g.19839545A>T						GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.G80G|C22orf29_uc002zqi.2_Silent_p.G80G|C22orf29_uc010grt.1_Intron	p.G80G	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN			2	839	-	Colorectal(54;0.0993)		80					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Silent	SNP	ENST00000405640.1	37	c.240T>A	CCDS13769.1																																																																																				0.627	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		11	50	0	0	0	0	11	50				
CHL1	10752	broad.mit.edu	37	3	369921	369921	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:369921G>A	ENST00000256509.2	+	5	911	c.269G>A	c.(268-270)gGa>gAa	p.G90E	CHL1_ENST00000397491.2_Missense_Mutation_p.G90E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AACAATTCAGGAACATTCAGG	0.388																																						uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(268-270)GGA>GAA		cell adhesion molecule with homology to L1CAM							133.0	130.0	131.0					3																	369921		2203	4299	6502	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:369921G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.269G>A	3.37:g.369921G>A	ENSP00000256509:p.Gly90Glu					CHL1_uc003bot.2_Missense_Mutation_p.G90E|CHL1_uc003bow.1_Missense_Mutation_p.G90E|CHL1_uc011asi.1_Missense_Mutation_p.G90E	p.G90E	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	5	540	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	90			Ig-like C2-type 1.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.269G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064542	0.76187	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000421198;ENST00000435603	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.88	4.88	0.63580	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.84268	0.0487	10	0.87932	D	0	.	16.208	0.82141	0.0:0.0:1.0:0.0	.	90;90;90	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	E	90	ENSP00000256509:G90E;ENSP00000380628:G90E;ENSP00000413628:G90E;ENSP00000397445:G90E	ENSP00000256509:G90E	G	+	2	0	CHL1	344921	1.000000	0.71417	0.373000	0.26003	0.620000	0.37586	8.240000	0.89813	2.241000	0.73720	0.655000	0.94253	GGA		0.388	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		6	94	0	0	0	0	6	94				
CRYBG3	131544	broad.mit.edu	37	3	97598838	97598838	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:97598838T>A	ENST00000182096.4	+	3	1118	c.1054T>A	c.(1054-1056)Tat>Aat	p.Y352N		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2300							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GATGGTTATCTATGATCTCCA	0.284																																						uc003drx.2		NA																	0					0						c.(1054-1056)TAT>AAT		beta-gamma crystallin domain containing 3							78.0	75.0	76.0					3																	97598838		1816	4068	5884	SO:0001583	missense	131544							g.chr3:97598838T>A			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1054T>A	3.37:g.97598838T>A	ENSP00000182096:p.Tyr352Asn						p.Y352N	NM_153605	NP_705833					3	1118	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.1054T>A		.	.	.	.	.	.	.	.	.	.	T	21.9	4.222136	0.79464	.	.	ENSG00000080200	ENST00000182096	D	0.83837	-1.77	5.61	5.61	0.85477	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.320592	0.27043	N	0.021209	D	0.91047	0.7183	M	0.89478	3.035	0.80722	D	1	P	0.48834	0.916	P	0.57846	0.828	D	0.92565	0.6061	10	0.87932	D	0	.	14.6905	0.69083	0.0:0.0:0.0:1.0	.	352	Q68DQ2	CRBG3_HUMAN	N	352	ENSP00000182096:Y352N	ENSP00000182096:Y352N	Y	+	1	0	CRYBG3	99081528	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.545000	0.53648	2.281000	0.76405	0.533000	0.62120	TAT		0.284	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		10	59	0	0	0	0	10	59				
CLSTN2	64084	broad.mit.edu	37	3	140277533	140277533	+	Silent	SNP	G	G	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:140277533G>C	ENST00000458420.3	+	12	2065	c.1875G>C	c.(1873-1875)gtG>gtC	p.V625V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	625					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ATGCCTATGTGATGGTCCTCC	0.547										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1873-1875)GTG>GTC		calsyntenin 2 precursor							95.0	89.0	91.0					3																	140277533		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140277533G>C	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1875G>C	3.37:g.140277533G>C		HNSCC(16;0.037)					p.V625V	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			12	2065	+			625			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1875G>C	CCDS3112.1																																																																																				0.547	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		5	65	0	0	0	0	5	65				
PHC3	80012	broad.mit.edu	37	3	169835109	169835109	+	Missense_Mutation	SNP	T	T	C	rs529062268		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:169835109T>C	ENST00000494943.1	-	10	2130	c.2062A>G	c.(2062-2064)Ata>Gta	p.I688V	PHC3_ENST00000495893.2_Missense_Mutation_p.I700V|PHC3_ENST00000467570.1_Missense_Mutation_p.I647V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	688					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTGTTCTCTATACTGGGAATG	0.448													T|||	1	0.000199681	0.0	0.0	5008	,	,		15443	0.001		0.0	False		,,,				2504	0.0					uc010hws.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2062-2064)ATA>GTA		polyhomeotic like 3							195.0	182.0	186.0					3																	169835109		1931	4134	6065	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169835109T>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2062A>G	3.37:g.169835109T>C	ENSP00000420271:p.Ile688Val					PHC3_uc003fgl.2_Missense_Mutation_p.I700V|PHC3_uc011bpq.1_Missense_Mutation_p.I647V	p.I688V	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		10	2126	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		688					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.2062A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.891|0.891	-0.725433|-0.725433	0.03158|0.03158	.|.	.|.	ENSG00000173889|ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570|ENST00000486042	T;T;T|.	0.40756|.	1.02;1.02;1.02|.	5.45|5.45	-7.82|-7.82	0.01205|0.01205	.|.	1.010830|.	0.07933|.	N|.	0.977830|.	T|T	0.19725|0.19725	0.0474|0.0474	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.34527|0.34527	-0.9825|-0.9825	10|5	0.15066|.	T|.	0.55|.	4.0391|4.0391	12.2044|12.2044	0.54345|0.54345	0.0:0.3432:0.5065:0.1503|0.0:0.3432:0.5065:0.1503	.|.	647;688;700|.	E7EX82;Q8NDX5;Q8NDX5-7|.	.;PHC3_HUMAN;.|.	V|C	688;700;647|161	ENSP00000420271:I688V;ENSP00000420294:I700V;ENSP00000419089:I647V|.	ENSP00000419089:I647V|.	I|Y	-|-	1|2	0|0	PHC3|PHC3	171317803|171317803	0.025000|0.025000	0.19082|0.19082	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.235000|0.235000	0.17948|0.17948	-0.901000|-0.901000	0.03891|0.03891	-0.438000|-0.438000	0.05819|0.05819	ATA|TAT		0.448	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		7	42	0	0	0	0	7	42				
TP63	8626	broad.mit.edu	37	3	189526137	189526137	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:189526137A>G	ENST00000264731.3	+	4	490	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	TP63_ENST00000382063.4_Intron|TP63_ENST00000354600.5_Missense_Mutation_p.Y40C|TP63_ENST00000392461.3_Missense_Mutation_p.Y40C|TP63_ENST00000320472.5_Missense_Mutation_p.Y134C|TP63_ENST00000456148.1_Missense_Mutation_p.Y40C|TP63_ENST00000418709.2_Missense_Mutation_p.Y134C|TP63_ENST00000392463.2_Missense_Mutation_p.Y40C|TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.Y40C|TP63_ENST00000440651.2_Missense_Mutation_p.Y134C|TP63_ENST00000392460.3_Missense_Mutation_p.Y134C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	134					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGTCCCTATAACACAGAC	0.617										HNSCC(45;0.13)																												uc003fry.2		NA																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(400-402)TAT>TGT		tumor protein p63 isoform 1							169.0	131.0	144.0					3																	189526137		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526137A>G	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.401A>G	3.37:g.189526137A>G	ENSP00000264731:p.Tyr134Cys	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.Y134C|TP63_uc003frz.2_Missense_Mutation_p.Y134C|TP63_uc010hzc.1_Missense_Mutation_p.Y134C|TP63_uc003fsa.2_Missense_Mutation_p.Y40C|TP63_uc003fsb.2_Missense_Mutation_p.Y40C|TP63_uc003fsc.2_Missense_Mutation_p.Y40C|TP63_uc003fsd.2_Missense_Mutation_p.Y40C|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.Y15C	p.Y134C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	490	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		134					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.401A>G	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559068	0.86335	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99824	-6.69;-6.95;-6.96;-6.96;-6.71;-6.55;-1.8;-6.71;-6.77;-6.74;-6.57	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999;1.0	D	0.98169	1.0451	9	.	.	.	-5.9149	15.3939	0.74774	1.0:0.0:0.0:0.0	.	134;134;40;40;40;40;134;134;134	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	C	134;134;134;134;134;40;40;40;40;40;40	ENSP00000264731:Y134C;ENSP00000407144:Y134C;ENSP00000317510:Y134C;ENSP00000376253:Y134C;ENSP00000394337:Y134C;ENSP00000346614:Y40C;ENSP00000401661:Y40C;ENSP00000392488:Y40C;ENSP00000376256:Y40C;ENSP00000376254:Y40C;ENSP00000389485:Y40C	.	Y	+	2	0	TP63	191008831	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.236000	0.73375	0.533000	0.62120	TAT		0.617	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		15	80	0	0	0	0	15	80				
EVC	2121	broad.mit.edu	37	4	5750014	5750014	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr4:5750014C>T	ENST00000264956.6	+	8	1263	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	EVC_ENST00000382674.2_Missense_Mutation_p.S360F|EVC_ENST00000509451.1_Missense_Mutation_p.S360F	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	360					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TTGTGCGATTCTCAGGAGCTG	0.488																																						uc003gil.1		NA																	0				ovary(1)|skin(1)	2						c.(1078-1080)TCT>TTT		Ellis van Creveld syndrome protein							59.0	59.0	59.0					4																	5750014		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5750014C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1079C>T	4.37:g.5750014C>T	ENSP00000264956:p.Ser360Phe					EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Silent_p.E463E	p.S360F	NM_153717	NP_714928	P57679	EVC_HUMAN			8	1263	+		Myeloproliferative disorder(84;0.117)	360						Missense_Mutation	SNP	ENST00000264956.6	37	c.1079C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387539	0.61956	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.56611	0.45;0.45;0.51	5.09	5.09	0.68999	.	0.208472	0.42294	D	0.000722	T	0.69504	0.3118	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.68311	-0.5442	10	0.36615	T	0.2	.	16.0082	0.80377	0.0:1.0:0.0:0.0	.	360	P57679	EVC_HUMAN	F	360	ENSP00000264956:S360F;ENSP00000372120:S360F;ENSP00000426774:S360F	ENSP00000264956:S360F	S	+	2	0	EVC	5800915	0.789000	0.28775	0.048000	0.18961	0.077000	0.17291	4.120000	0.57897	2.361000	0.80049	0.609000	0.83330	TCT		0.488	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			3	36	0	0	0	0	3	36				
FAT1	2195	broad.mit.edu	37	4	187530345	187530345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr4:187530345G>A	ENST00000441802.2	-	16	10407	c.10198C>T	c.(10198-10200)Cga>Tga	p.R3400*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3400	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCGTTTCTCGGTCGAGAAGT	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(10198-10200)CGA>TGA		FAT tumor suppressor 1 precursor							118.0	114.0	115.0					4																	187530345		2001	4181	6182	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187530345G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10198C>T	4.37:g.187530345G>A	ENSP00000406229:p.Arg3400*	HNSCC(5;0.00058)					p.R3400*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			16	10386	-			3400			Extracellular (Potential).|Cadherin 31.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10198C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	50	17.189412	0.99881	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0427	0.64687	0.0:0.0:0.7752:0.2248	.	.	.	.	X	3400;3402	.	ENSP00000260147:R3402X	R	-	1	2	FAT1	187767339	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	2.531000	0.45650	2.352000	0.79861	0.563000	0.77884	CGA		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	33	0	0	0	0	8	33				
FAT1	2195	broad.mit.edu	37	4	187542660	187542660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr4:187542660G>A	ENST00000441802.2	-	10	5289	c.5080C>T	c.(5080-5082)Caa>Taa	p.Q1694*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1694	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGATGATTGACTATGGGCT	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(5080-5082)CAA>TAA		FAT tumor suppressor 1 precursor							117.0	113.0	114.0					4																	187542660		1868	4112	5980	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542660G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5080C>T	4.37:g.187542660G>A	ENSP00000406229:p.Gln1694*	HNSCC(5;0.00058)					p.Q1694*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	5268	-			1694			Extracellular (Potential).|Cadherin 15.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.5080C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	45	11.681925	0.99591	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.99	4.99	0.66335	.	0.061051	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.8314	0.92141	0.0:0.0:1.0:0.0	.	.	.	.	X	1694;1696	.	ENSP00000260147:Q1696X	Q	-	1	0	FAT1	187779654	1.000000	0.71417	0.985000	0.45067	0.715000	0.41141	9.601000	0.98297	2.751000	0.94390	0.650000	0.86243	CAA		0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	49	0	0	0	0	7	49				
TRIML2	205860	broad.mit.edu	37	4	189022315	189022315	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr4:189022315C>G	ENST00000512729.1	-	3	599	c.225G>C	c.(223-225)caG>caC	p.Q75H	TRIML2_ENST00000536972.1_Missense_Mutation_p.Q125H|TRIML2_ENST00000326754.3_Missense_Mutation_p.Q75H	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	75					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCTGCTGTCTCTGGAGATTCT	0.428																																						uc003izl.2		NA																	0				central_nervous_system(2)	2						c.(223-225)CAG>CAC		tripartite motif family-like 2							161.0	150.0	154.0					4																	189022315		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189022315C>G	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.225G>C	4.37:g.189022315C>G	ENSP00000422581:p.Gln75His					TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.Q125H|TRIML2_uc011clf.1_Missense_Mutation_p.Q125H	p.Q75H	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	3	261	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	75			Potential.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.225G>C	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730965	0.30684	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.60797	0.37;0.16;3.56	5.15	2.49	0.30216	.	2.401410	0.01928	N	0.041001	T	0.53061	0.1773	N	0.24115	0.695	0.09310	N	1	P;P;P	0.52316	0.952;0.952;0.952	P;P;P	0.48189	0.57;0.496;0.496	T	0.44298	-0.9337	10	0.52906	T	0.07	.	7.584	0.27982	0.0:0.7244:0.0:0.2756	.	125;75;75	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	H	75;75;125	ENSP00000422581:Q75H;ENSP00000317498:Q75H;ENSP00000441236:Q125H	ENSP00000317498:Q75H	Q	-	3	2	TRIML2	189259309	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.323000	0.07997	0.401000	0.25424	0.655000	0.94253	CAG		0.428	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		5	45	0	0	0	0	5	45				
PLEKHG4B	153478	broad.mit.edu	37	5	171485	171485	+	Missense_Mutation	SNP	G	G	A	rs533211698	byFrequency	TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:171485G>A	ENST00000283426.6	+	14	2958	c.2908G>A	c.(2908-2910)Gcc>Acc	p.A970T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	970	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTCCGAGCCGCCGAGGTCGT	0.677													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15548	0.0		0.0	False		,,,				2504	0.001					uc003jak.2		NA																	0				skin(2)	2						c.(2908-2910)GCC>ACC		pleckstrin homology domain containing, family G							25.0	27.0	26.0					5																	171485		2202	4296	6498	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:171485G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2908G>A	5.37:g.171485G>A	ENSP00000283426:p.Ala970Thr						p.A970T	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	14	2958	+			970			DH.			Missense_Mutation	SNP	ENST00000283426.6	37	c.2908G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810019	0.50421	.	.	ENSG00000153404	ENST00000283426	T	0.46451	0.87	2.92	2.92	0.33932	Dbl homology (DH) domain (4);	.	.	.	.	T	0.70928	0.3280	H	0.94582	3.555	0.42444	D	0.992726	D	0.89917	1.0	D	0.97110	1.0	T	0.78378	-0.2227	9	0.87932	D	0	.	11.2313	0.48914	0.0:0.0:1.0:0.0	.	970	Q96PX9	PKH4B_HUMAN	T	970	ENSP00000283426:A970T	ENSP00000283426:A970T	A	+	1	0	PLEKHG4B	224485	1.000000	0.71417	0.003000	0.11579	0.290000	0.27261	7.997000	0.88414	1.148000	0.42385	0.313000	0.20887	GCC		0.677	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		4	28	0	0	0	0	4	28				
ADCY2	108	broad.mit.edu	37	5	7626401	7626401	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:7626401T>C	ENST00000338316.4	+	4	781	c.692T>C	c.(691-693)aTc>aCc	p.I231T		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	231					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AAGTCGCGGATCAAGTTGGAA	0.398																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(691-693)ATC>ACC		adenylate cyclase 2							119.0	113.0	115.0					5																	7626401		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7626401T>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.692T>C	5.37:g.7626401T>C	ENSP00000342952:p.Ile231Thr						p.I231T	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			4	759	+			231			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.692T>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876180	0.51801	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681	T	0.76709	-1.04	5.09	5.09	0.68999	.	0.116285	0.64402	D	0.000019	T	0.72566	0.3476	L	0.60455	1.87	0.80722	D	1	B	0.32051	0.354	B	0.25987	0.065	T	0.74444	-0.3663	10	0.59425	D	0.04	.	12.9201	0.58226	0.0:0.0:0.0:1.0	.	231	Q08462	ADCY2_HUMAN	T	231;82;20	ENSP00000342952:I231T	ENSP00000342952:I231T	I	+	2	0	ADCY2	7679401	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.338000	0.79269	2.039000	0.60335	0.533000	0.62120	ATC		0.398	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		3	56	0	0	0	0	3	56				
PIK3R1	5295	broad.mit.edu	37	5	67589628	67589628	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:67589628A>T	ENST00000521381.1	+	11	2007	c.1391A>T	c.(1390-1392)gAt>gTt	p.D464V	PIK3R1_ENST00000396611.1_Missense_Mutation_p.D464V|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D464V|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D101V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D164V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D194V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D464V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	464					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y463_L466del(1)|p.E462_R465delEYDR(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CGAGAATATGATAGATTATAT	0.294			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2		NA		Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		4	Deletion - In frame(2)|Whole gene deletion(1)|Unknown(1)	p.D434_Q475del(2)|p.D464fs*2(1)|p.?(1)|p.D464H(1)|p.Y463_L466del(1)|p.T454_D464del(1)	lung(2)|large_intestine(1)|endometrium(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1390-1392)GAT>GTT		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						45.0	48.0	47.0					5																	67589628		2187	4266	6453	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589628A>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1391A>T	5.37:g.67589628A>T	ENSP00000428056:p.Asp464Val	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.D464V|PIK3R1_uc003jvc.2_Missense_Mutation_p.D164V|PIK3R1_uc003jvd.2_Missense_Mutation_p.D194V|PIK3R1_uc003jve.2_Missense_Mutation_p.D143V|PIK3R1_uc011crb.1_Missense_Mutation_p.D134V	p.D464V	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1951	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	464					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1391A>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567313	0.65651	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;D;T;D	0.83591	-0.6;-0.6;-0.47;-0.6;-1.61;0.75;-1.62;0.32;-1.74	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.91270	0.7248	M	0.85945	2.785	0.80722	D	1	P;P;P;D	0.63046	0.955;0.782;0.865;0.992	P;P;P;D	0.66716	0.606;0.683;0.686;0.946	D	0.92721	0.6191	10	0.87932	D	0	-28.8658	15.3459	0.74337	1.0:0.0:0.0:0.0	.	134;194;164;464	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	V	464;464;464;464;164;101;194;137;101	ENSP00000428056:D464V;ENSP00000429277:D464V;ENSP00000379855:D464V;ENSP00000274335:D464V;ENSP00000323512:D164V;ENSP00000431058:D101V;ENSP00000338554:D194V;ENSP00000429156:D137V;ENSP00000430098:D101V	ENSP00000274335:D464V	D	+	2	0	PIK3R1	67625384	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.709000	0.91379	2.277000	0.76020	0.528000	0.53228	GAT		0.294	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		9	54	0	0	0	0	9	54				
HAPLN1	1404	broad.mit.edu	37	5	82948498	82948498	+	Silent	SNP	G	G	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:82948498G>T	ENST00000274341.4	-	3	1096	c.246C>A	c.(244-246)acC>acA	p.T82T	HAPLN1_ENST00000514416.1_Silent_p.T82T	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	82	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	AAGTTAGCTTGGTCCACTTAA	0.423																																						uc003kim.2		NA																	0				large_intestine(3)|ovary(1)|skin(1)	5						c.(244-246)ACC>ACA		hyaluronan and proteoglycan link protein 1							117.0	109.0	112.0					5																	82948498		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948498G>T		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.246C>A	5.37:g.82948498G>T						HAPLN1_uc003kin.2_Silent_p.T82T	p.T82T	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	2	317	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	82			Ig-like V-type.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.246C>A	CCDS4061.1																																																																																				0.423	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		5	97	1	0	1.64e-10	1.81e-10	5	97				
RASA1	5921	broad.mit.edu	37	5	86659189	86659189	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:86659189T>A	ENST00000274376.6	+	11	2042	c.1478T>A	c.(1477-1479)tTa>tAa	p.L493*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.L327*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.L316*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.L326*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	493	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGGAAAAATTTATATTTTATC	0.289																																						uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(1477-1479)TTA>TAA		RAS p21 protein activator 1 isoform 1							50.0	54.0	52.0					5																	86659189		2203	4297	6500	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86659189T>A		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1478T>A	5.37:g.86659189T>A	ENSP00000274376:p.Leu493*					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.L316*|RASA1_uc011ctv.1_Nonsense_Mutation_p.L326*|RASA1_uc011ctw.1_Nonsense_Mutation_p.L327*|RASA1_uc010jaw.2_Nonsense_Mutation_p.L315*	p.L493*	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	11	1596	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	493			PH.		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.1478T>A	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	42	9.762724	0.99257	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.754	0.78011	0.0:0.0:0.0:1.0	.	.	.	.	X	493;526;316;326;327	.	ENSP00000274376:L493X	L	+	2	0	RASA1	86694945	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	8.011000	0.88624	2.118000	0.64928	0.383000	0.25322	TTA		0.289	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		10	33	0	0	0	0	10	33				
LVRN	206338	broad.mit.edu	37	5	115327924	115327924	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:115327924G>A	ENST00000357872.4	+	5	1334	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		404						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TCAACTGACAGAAAAAAAGAC	0.388																																						uc003kro.2		NA																	0					0						c.(1210-1212)GAA>AAA		laeverin							143.0	152.0	149.0					5																	115327924		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115327924G>A																												ENST00000357872.4:c.1210G>A	5.37:g.115327924G>A	ENSP00000350541:p.Glu404Lys					AQPEP_uc003krp.2_RNA	p.E404K	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			5	1374	+			404			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.1210G>A	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616820	0.14129	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02737	4.18	5.81	5.81	0.92471	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.549644	0.18966	N	0.126272	T	0.03095	0.0091	L	0.41236	1.265	0.47476	D	0.999438	P	0.37781	0.608	B	0.33846	0.171	T	0.52434	-0.8576	10	0.48119	T	0.1	.	9.0005	0.36079	0.1564:0.0:0.8436:0.0	.	404	Q6Q4G3	AMPQ_HUMAN	K	404;393	ENSP00000350541:E404K	ENSP00000350541:E404K	E	+	1	0	AC010282.1	115355823	0.003000	0.15002	0.009000	0.14445	0.065000	0.16274	1.255000	0.32909	2.736000	0.93811	0.655000	0.94253	GAA		0.388	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			5	84	0	0	0	0	5	84				
PCDHA7	56141	broad.mit.edu	37	5	140214357	140214357	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:140214357C>G	ENST00000525929.1	+	1	389	c.389C>G	c.(388-390)cCt>cGt	p.P130R	PCDHA7_ENST00000378125.3_Missense_Mutation_p.P130R|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACCCTCCGGTGTTC	0.592																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(388-390)CCT>CGT		protocadherin alpha 7 isoform 1 precursor							113.0	113.0	113.0					5																	140214357		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140214357C>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.389C>G	5.37:g.140214357C>G	ENSP00000436426:p.Pro130Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P130R	p.P130R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	389	+			130			Cadherin 1.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.389C>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102596	0.20632	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.22134	1.97;1.97	4.17	4.17	0.49024	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31709	U	0.007182	T	0.25680	0.0625	L	0.58354	1.805	0.26827	N	0.968664	B;B	0.23735	0.053;0.09	B;B	0.32533	0.089;0.147	T	0.23261	-1.0193	10	0.72032	D	0.01	.	12.0296	0.53390	0.1728:0.8272:0.0:0.0	.	130;130	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	R	130	ENSP00000436426:P130R;ENSP00000367365:P130R	ENSP00000367365:P130R	P	+	2	0	PCDHA7	140194541	0.004000	0.15560	0.484000	0.27391	0.207000	0.24258	2.134000	0.42102	2.021000	0.59480	0.455000	0.32223	CCT		0.592	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		8	184	0	0	0	0	8	184				
KIF4B	285643	broad.mit.edu	37	5	154393632	154393632	+	Silent	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:154393632G>A	ENST00000435029.4	+	1	373	c.213G>A	c.(211-213)ccG>ccA	p.P71P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	71	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.P71P(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTAGCGCCGCTCATAAAAG	0.463																																						uc010jih.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(211-213)CCG>CCA		kinesin family member 4B							99.0	100.0	100.0					5																	154393632		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393632G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.213G>A	5.37:g.154393632G>A							p.P71P	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	373	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	71			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.213G>A	CCDS47324.1																																																																																				0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			9	62	0	0	0	0	9	62				
ALDH5A1	7915	broad.mit.edu	37	6	24523069	24523069	+	Silent	SNP	C	C	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:24523069C>T	ENST00000357578.3	+	7	1234	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	ALDH5A1_ENST00000491546.1_Silent_p.A335A|ALDH5A1_ENST00000546278.1_Silent_p.A275A|ALDH5A1_ENST00000348925.2_Silent_p.A376A	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	363					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TCGCCGAGGCCATGAAGAAGA	0.428																																						uc003neg.2		NA																	0					0						c.(1087-1089)GCC>GCT		aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						141.0	142.0	141.0					6																	24523069		2203	4300	6503	SO:0001819	synonymous_variant	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24523069C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1089C>T	6.37:g.24523069C>T						ALDH5A1_uc003nef.2_Silent_p.A376A	p.A363A	NM_001080	NP_001071	P51649	SSDH_HUMAN			7	1117	+			363					B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	c.1089C>T	CCDS4555.1																																																																																				0.428	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			10	106	0	0	0	0	10	106				
ZNF391	346157	broad.mit.edu	37	6	27368887	27368887	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:27368887G>C	ENST00000244576.4	+	3	1283	c.738G>C	c.(736-738)gaG>gaC	p.E246D	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	246					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)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ACACTGGAGAGAATCCCTATG	0.433																																						uc003njf.1		NA																	0				pancreas(2)|skin(1)	3						c.(736-738)GAG>GAC		zinc finger protein 391							68.0	71.0	70.0					6																	27368887		2200	4299	6499	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368887G>C	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.738G>C	6.37:g.27368887G>C	ENSP00000244576:p.Glu246Asp						p.E246D	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			3	1256	+			246					B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.738G>C	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152474	0.57259	.	.	ENSG00000124613	ENST00000244576	T	0.26810	1.71	4.01	1.2	0.21068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29783	0.0744	M	0.76170	2.325	0.27233	N	0.959348	D	0.71674	0.998	D	0.81914	0.995	T	0.04537	-1.0944	9	0.62326	D	0.03	.	5.9044	0.18984	0.4557:0.0:0.5443:0.0	.	246	Q9UJN7	ZN391_HUMAN	D	246	ENSP00000244576:E246D	ENSP00000244576:E246D	E	+	3	2	ZNF391	27476866	0.424000	0.25490	0.071000	0.20095	0.916000	0.54674	0.205000	0.17356	0.187000	0.20147	-0.244000	0.11960	GAG		0.433	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		3	44	0	0	0	0	3	44				
ZKSCAN3	80317	broad.mit.edu	37	6	28327420	28327420	+	Silent	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:28327420G>A	ENST00000377255.3	+	3	354	c.57G>A	c.(55-57)caG>caA	p.Q19Q	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Silent_p.Q19Q	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	19					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CAGAAGACCAGATGGAGCTTC	0.562																																						uc003nle.3		NA																	0				skin(2)	2						c.(55-57)CAG>CAA		zinc finger with KRAB and SCAN domains 3							86.0	89.0	88.0					6																	28327420		2203	4300	6503	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327420G>A	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.57G>A	6.37:g.28327420G>A						ZKSCAN3_uc010jrc.2_Silent_p.Q19Q|ZKSCAN3_uc003nlf.3_Intron	p.Q19Q	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			2	273	+			19					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.57G>A	CCDS4650.1																																																																																				0.562	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		9	98	0	0	0	0	9	98				
DLK2	65989	broad.mit.edu	37	6	43418618	43418618	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:43418618C>G	ENST00000357338.3	-	6	1511	c.811G>C	c.(811-813)Gtg>Ctg	p.V271L	DLK2_ENST00000372485.1_Missense_Mutation_p.V265L|DLK2_ENST00000414245.1_Missense_Mutation_p.V265L|DLK2_ENST00000372488.3_Missense_Mutation_p.V271L	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	271					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCAGGTACCACTACAGCTGAG	0.647																																						uc003ova.2		NA																	0					0						c.(811-813)GTG>CTG		EGF-like-domain, multiple 9 precursor							47.0	56.0	53.0					6																	43418618		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418618C>G	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.811G>C	6.37:g.43418618C>G	ENSP00000349893:p.Val271Leu					DLK2_uc003ovb.2_Missense_Mutation_p.V271L	p.V271L	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1020	-	all_lung(25;0.00536)		271			Extracellular (Potential).		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.811G>C	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.888|5.888	0.347902|0.347902	0.11126|0.11126	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245|ENST00000430324	D;D;D;D|.	0.89123|.	-2.47;-2.45;-2.45;-2.47|.	4.98|4.98	3.12|3.12	0.35913|0.35913	.|.	0.928659|.	0.08982|.	N|.	0.865713|.	T|.	0.15825|.	0.0381|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.24977|.	-1.0145|.	10|.	0.09084|.	T|.	0.74|.	.|.	12.9699|12.9699	0.58508|0.58508	0.0:0.6882:0.3118:0.0|0.0:0.6882:0.3118:0.0	.|.	271|.	Q6UY11|.	DLK2_HUMAN|.	L|Y	265;271;271;265|176	ENSP00000361563:V265L;ENSP00000361566:V271L;ENSP00000349893:V271L;ENSP00000398906:V265L|.	ENSP00000349893:V271L|.	V|X	-|-	1|3	0|2	DLK2|DLK2	43526596|43526596	0.000000|0.000000	0.05858|0.05858	0.398000|0.398000	0.26321|0.26321	0.956000|0.956000	0.61745|0.61745	0.585000|0.585000	0.23879|0.23879	0.461000|0.461000	0.27071|0.27071	0.462000|0.462000	0.41574|0.41574	GTG|TAG		0.647	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		6	63	0	0	0	0	6	63				
PRDM1	639	broad.mit.edu	37	6	106553695	106553695	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:106553695A>G	ENST00000369096.4	+	5	1894	c.1660A>G	c.(1660-1662)Aga>Gga	p.R554G	PRDM1_ENST00000369091.2_Missense_Mutation_p.R518G|PRDM1_ENST00000369089.3_Missense_Mutation_p.R420G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	554	Interaction with PIAS1.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TAAAAACAAAAGAAACATGAC	0.537			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2		NA		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(1660-1662)AGA>GGA		PR domain containing 1, with ZNF domain isoform							55.0	57.0	56.0					6																	106553695		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553695A>G		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1660A>G	6.37:g.106553695A>G	ENSP00000358092:p.Arg554Gly					PRDM1_uc003pre.2_Missense_Mutation_p.R420G	p.R554G	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1894	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	554					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1660A>G	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482391	0.44147	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.09073	3.04;3.02;3.03	5.74	3.24	0.37175	.	0.042575	0.85682	D	0.000000	T	0.05914	0.0154	M	0.70275	2.135	0.50467	D	0.999872	B;B	0.24823	0.112;0.024	B;B	0.27715	0.082;0.024	T	0.05022	-1.0911	10	0.87932	D	0	-26.4701	12.7533	0.57320	0.7421:0.2579:0.0:0.0	.	420;554	Q86WM7;O75626	.;PRDM1_HUMAN	G	518;554;517;420	ENSP00000358087:R518G;ENSP00000358092:R554G;ENSP00000358085:R420G	ENSP00000358085:R420G	R	+	1	2	PRDM1	106660388	1.000000	0.71417	0.828000	0.32881	0.914000	0.54420	4.722000	0.61958	0.392000	0.25172	0.533000	0.62120	AGA		0.537	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			4	50	0	0	0	0	4	50				
TBC1D32	221322	broad.mit.edu	37	6	121600334	121600334	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:121600334T>C	ENST00000398212.2	-	15	1715	c.1666A>G	c.(1666-1668)Att>Gtt	p.I556V	TBC1D32_ENST00000275159.6_Missense_Mutation_p.I556V	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	556					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ACAGATGCAATTCTTGCCAAA	0.328																																						uc003pyo.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1666-1668)ATT>GTT		hypothetical protein LOC221322							63.0	61.0	62.0					6																	121600334		1807	4075	5882	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121600334T>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1666A>G	6.37:g.121600334T>C	ENSP00000381270:p.Ile556Val					C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.I75V	p.I556V	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	15	1734	-			556					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1666A>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070868	0.36566	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.21734	1.99;1.99	5.49	1.77	0.24775	.	0.061443	0.64402	N	0.000005	T	0.09862	0.0242	M	0.71581	2.175	0.35528	D	0.802011	B;B	0.24043	0.009;0.096	B;B	0.27608	0.016;0.081	T	0.02789	-1.1110	10	0.62326	D	0.03	-20.547	5.013	0.14322	0.1399:0.1292:0.0:0.7309	.	556;556	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	V	556	ENSP00000275159:I556V;ENSP00000381270:I556V	ENSP00000275159:I556V	I	-	1	0	C6orf170	121642033	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.432000	0.44784	0.073000	0.16731	-0.481000	0.04817	ATT		0.328	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		5	59	0	0	0	0	5	59				
SYNE1	23345	broad.mit.edu	37	6	152722368	152722368	+	Missense_Mutation	SNP	A	A	G	rs138004884		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:152722368A>G	ENST00000367255.5	-	47	7535	c.6934T>C	c.(6934-6936)Ttt>Ctt	p.F2312L	RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.F2349L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F2319L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F2312L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F2319L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2312					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATTAATAAACTTCTCCACT	0.393										HNSCC(10;0.0054)			A|||	1	0.000199681	0.0	0.0	5008	,	,		19585	0.0		0.001	False		,,,				2504	0.0					uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(6934-6936)TTT>CTT		spectrin repeat containing, nuclear envelope 1		A	LEU/PHE,LEU/PHE	1,4405	2.1+/-5.4	0,1,2202	147.0	129.0	135.0		6955,6934	5.6	1.0	6	dbSNP_134	135	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	22,22	0,9,6494	GG,GA,AA		0.093,0.0227,0.0692	benign,benign	2319/8750,2312/8798	152722368	9,12997	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152722368A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6934T>C	6.37:g.152722368A>G	ENSP00000356224:p.Phe2312Leu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.F2319L|SYNE1_uc003qou.3_Missense_Mutation_p.F2312L|SYNE1_uc010kjb.1_Missense_Mutation_p.F2295L	p.F2312L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	47	7536	-		Ovarian(120;0.0955)	2312			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6934T>C	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	14.92	2.678770	0.47886	2.27E-4	9.3E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.58	5.58	0.84498	.	0.101968	0.43919	D	0.000518	T	0.11623	0.0283	L	0.39633	1.23	0.80722	D	1	B;B;B;B	0.15141	0.012;0.002;0.002;0.002	B;B;B;B	0.13407	0.009;0.003;0.003;0.004	T	0.08848	-1.0702	10	0.16896	T	0.51	.	11.6415	0.51235	0.9288:0.0:0.0712:0.0	.	2295;2312;2312;2319	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	2312;2319;2312;2319;2349	ENSP00000356224:F2312L;ENSP00000396024:F2319L;ENSP00000265368:F2312L;ENSP00000390975:F2319L;ENSP00000341887:F2349L	ENSP00000265368:F2312L	F	-	1	0	SYNE1	152764061	1.000000	0.71417	0.963000	0.40424	0.921000	0.55340	5.286000	0.65639	2.133000	0.65898	0.482000	0.46254	TTT		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	66	0	0	0	0	4	66				
NPSR1	387129	broad.mit.edu	37	7	34888178	34888178	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr7:34888178T>C	ENST00000360581.1	+	8	1056	c.928T>C	c.(928-930)Tat>Cat	p.Y310H	NPSR1_ENST00000531252.1_Missense_Mutation_p.Y299H|NPSR1_ENST00000381542.1_Missense_Mutation_p.Y244H|NPSR1_ENST00000359791.1_Missense_Mutation_p.Y310H|NPSR1_ENST00000381539.3_Missense_Mutation_p.Y310H	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	310						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAGCGTTTCTATGCCTCTGT	0.498																																						uc003teg.1		NA																	0				skin(3)|pancreas(1)	4						c.(928-930)TAT>CAT		G protein-coupled receptor for asthma	Halothane(DB01159)						228.0	220.0	223.0					7																	34888178		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34888178T>C	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.928T>C	7.37:g.34888178T>C	ENSP00000353788:p.Tyr310His					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.Y310H|NPSR1_uc010kwt.1_Missense_Mutation_p.Y157H|NPSR1_uc010kwu.1_Missense_Mutation_p.Y100H|NPSR1_uc010kwv.1_Missense_Mutation_p.Y244H|NPSR1_uc003tei.1_Missense_Mutation_p.Y310H|NPSR1_uc010kww.1_Missense_Mutation_p.Y299H|NPSR1_uc011kar.1_Missense_Mutation_p.Y244H	p.Y310H	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			8	1056	+			310			Extracellular (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.928T>C	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959754	0.34565	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.22	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.116891	0.38959	N	0.001510	T	0.46151	0.1378	L	0.45137	1.4	0.39093	D	0.961138	B;D;D;D;D;D	0.71674	0.035;0.998;0.998;0.994;0.998;0.997	B;P;D;D;P;D	0.68483	0.031;0.904;0.935;0.93;0.904;0.958	T	0.33929	-0.9849	10	0.39692	T	0.17	-10.902	9.7275	0.40342	0.0:0.126:0.0:0.874	.	244;299;244;310;310;310	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	H	310;244;310;299;310;113	ENSP00000353788:Y310H;ENSP00000370953:Y244H;ENSP00000352839:Y310H;ENSP00000433258:Y299H;ENSP00000370950:Y310H	ENSP00000334093:Y113H	Y	+	1	0	NPSR1	34854703	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	2.913000	0.48790	0.442000	0.26555	-1.147000	0.01851	TAT		0.498	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		11	203	0	0	0	0	11	203				
TRIM24	8805	broad.mit.edu	37	7	138269634	138269634	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr7:138269634G>A	ENST00000343526.4	+	19	3306	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	TRIM24_ENST00000415680.2_Missense_Mutation_p.D997N			O15164	TIF1A_HUMAN	tripartite motif containing 24	1031					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTCAGATGATGACTTTGTACA	0.373																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2		NA																	0				central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(3091-3093)GAC>AAC		transcriptional intermediary factor 1 alpha							61.0	62.0	62.0					7																	138269634		2202	4300	6502	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138269634G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.3091G>A	7.37:g.138269634G>A	ENSP00000340507:p.Asp1031Asn					TRIM24_uc003vub.2_Missense_Mutation_p.D997N	p.D1031N	NM_015905	NP_056989	O15164	TIF1A_HUMAN			19	3306	+			1031					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.3091G>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769796	0.90020	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680	T;T	0.80304	-1.33;-1.36	5.85	5.85	0.93711	.	0.133555	0.64402	D	0.000003	D	0.88336	0.6409	M	0.62723	1.935	0.48511	D	0.999669	D;D	0.62365	0.958;0.991	B;D	0.63793	0.395;0.918	D	0.88549	0.3115	10	0.87932	D	0	-18.5934	19.7588	0.96306	0.0:0.0:1.0:0.0	.	1031;997	O15164;O15164-2	TIF1A_HUMAN;.	N	1031;423;942;997	ENSP00000340507:D1031N;ENSP00000390829:D997N	ENSP00000340507:D1031N	D	+	1	0	TRIM24	137920174	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.598000	0.67585	2.761000	0.94854	0.650000	0.86243	GAC		0.373	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		4	46	0	0	0	0	4	46				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		8	11	0	0	0	0	8	11				
TOPORS	10210	broad.mit.edu	37	9	32542338	32542338	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr9:32542338G>A	ENST00000360538.2	-	3	2301	c.2185C>T	c.(2185-2187)Cat>Tat	p.H729Y	TOPORS_ENST00000379858.1_Missense_Mutation_p.H664Y	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	729	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTAGAATAATGAGCTCTGGAC	0.378																																						uc003zrb.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2185-2187)CAT>TAT		topoisomerase I binding, arginine/serine-rich							168.0	177.0	174.0					9																	32542338		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542338G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2185C>T	9.37:g.32542338G>A	ENSP00000353735:p.His729Tyr					TOPORS_uc003zrc.2_Missense_Mutation_p.H662Y	p.H729Y	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2352	-			729			Interaction with TOP1.|Arg-rich.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2185C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826043	0.50739	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.14766	2.5;2.48	6.16	5.22	0.72569	.	0.124327	0.37219	N	0.002181	T	0.10078	0.0247	N	0.24115	0.695	0.27509	N	0.951741	B	0.14438	0.01	B	0.09377	0.004	T	0.16541	-1.0399	10	0.17832	T	0.49	-16.5588	15.3243	0.74147	0.0:0.0:0.8595:0.1405	.	729	Q9NS56	TOPRS_HUMAN	Y	729;664	ENSP00000353735:H729Y;ENSP00000369187:H664Y	ENSP00000353735:H729Y	H	-	1	0	TOPORS	32532338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.652000	0.37313	2.937000	0.99478	0.650000	0.86243	CAT		0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		10	154	0	0	0	0	10	154				
ABCA2	20	broad.mit.edu	37	9	139906446	139906446	+	Silent	SNP	G	G	A	rs373681636		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr9:139906446G>A	ENST00000371605.3	-	34	5529	c.5382C>T	c.(5380-5382)atC>atT	p.I1794I	ABCA2_ENST00000341511.6_Silent_p.I1795I|ABCA2_ENST00000265662.5_Silent_p.I1795I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1794					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGAAGATGGCGATGACGACAT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		11085	0.0		0.0	False		,,,				2504	0.001					uc011mem.1		NA																	0					0						c.(5380-5382)ATC>ATT		ATP-binding cassette, sub-family A, member 2		G	,	0,4376		0,0,2188	75.0	88.0	84.0		5385,5475	-4.5	0.9	9		84	1,8539		0,1,4269	no	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,1,6457	AA,AG,GG		0.0117,0.0,0.0077	,	1795/2437,1825/2467	139906446	1,12915	2188	4270	6458	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139906446G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5382C>T	9.37:g.139906446G>A						ABCA2_uc011mel.1_Silent_p.I1795I|ABCA2_uc004ckl.1_Silent_p.I1725I|ABCA2_uc004ckm.1_Silent_p.I1825I	p.I1794I	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	34	5530	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1794			Helical; (Potential).		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.5382C>T																																																																																					0.637	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		4	48	0	0	0	0	4	48				
PRICKLE3	4007	broad.mit.edu	37	X	49032203	49032203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chrX:49032203G>T	ENST00000376317.3	-	9	1761	c.1667C>A	c.(1666-1668)tCa>tAa	p.S556*	PRICKLE3_ENST00000538114.1_Nonsense_Mutation_p.S380*|PRICKLE3_ENST00000536904.1_Nonsense_Mutation_p.S475*|PRICKLE3_ENST00000540849.1_Nonsense_Mutation_p.S488*	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	556	Poly-Ser.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						ATCCTCTGATGATTCGGAACT	0.577																																						uc004dmy.1		NA																	0				breast(1)	1						c.(1666-1668)TCA>TAA		LIM domain only 6							155.0	123.0	134.0					X																	49032203		2203	4300	6503	SO:0001587	stop_gained	4007						protein binding|zinc ion binding	g.chrX:49032203G>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1667C>A	X.37:g.49032203G>T	ENSP00000365494:p.Ser556*					PRICKLE3_uc011mmv.1_Nonsense_Mutation_p.S488*|PRICKLE3_uc011mmw.1_Nonsense_Mutation_p.S475*|PRICKLE3_uc011mmx.1_Nonsense_Mutation_p.S518*	p.S556*	NM_006150	NP_006141	O43900	PRIC3_HUMAN			9	1693	-			556			Poly-Ser.		B7Z8F2|O76007|Q53XR5	Nonsense_Mutation	SNP	ENST00000376317.3	37	c.1667C>A	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	-	18.85	3.710924	0.68730	.	.	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	.	.	.	3.76	2.8	0.32819	.	0.000000	0.38164	N	0.001792	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8282	7.0479	0.25056	0.0:0.0:0.7307:0.2693	.	.	.	.	X	556;475;488;380	.	ENSP00000365494:S556X	S	-	2	0	PRICKLE3	48919147	1.000000	0.71417	0.959000	0.39883	0.421000	0.31385	4.685000	0.61693	1.888000	0.54679	0.455000	0.32223	TCA		0.577	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		15	75	1	0	1.15e-07	1.26e-07	15	75				
HCFC1	3054	broad.mit.edu	37	X	153215722	153215722	+	Silent	SNP	G	G	C			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chrX:153215722G>C	ENST00000310441.7	-	24	6942	c.5976C>G	c.(5974-5976)ggC>ggG	p.G1992G	HCFC1_ENST00000369984.4_Silent_p.G2037G|HCFC1_ENST00000354233.3_Silent_p.G1923G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1992	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGGCCGGGCCATAGCCCT	0.632																																						uc004fjp.2		NA																	0				ovary(2)	2						c.(5974-5976)GGC>GGG		host cell factor 1							52.0	53.0	53.0					X																	153215722		2097	4189	6286	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153215722G>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5976C>G	X.37:g.153215722G>C							p.G1992G	NM_005334	NP_005325	P51610	HCFC1_HUMAN			24	6504	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1992					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.5976C>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	9.531	1.110814	0.20714	.	.	ENSG00000172534	ENST00000444191	.	.	.	5.36	3.56	0.40772	.	.	.	.	.	T	0.53400	0.1794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45556	-0.9253	4	.	.	.	.	4.5529	0.12123	0.0854:0.1494:0.6079:0.1573	.	.	.	.	A	568	.	.	P	-	1	0	HCFC1	152868916	0.998000	0.40836	0.991000	0.47740	0.934000	0.57294	0.389000	0.20751	0.460000	0.27045	0.525000	0.51046	CCC		0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		7	32	0	0	0	0	7	32				
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs142534762|rs3217269|rs199701060|rs201060055	byFrequency	TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.5	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718														1537	0.306909	0.5038	0.2954	5008	,	,		11352	0.0556		0.2624	False		,,,				2504	0.3538					uc001dka.2		NA																	0					0						c.(91-102)CTGGCGCTGCGG>CGG		chitobiase, di-N-acetyl- precursor				865,21,1798		349,2,165,3,13,810						-3.6	0.0		dbSNP_134	4	1279,4,4361		415,1,448,1,1,1956	no	codingComplex	CTBS	NM_004388.2		764,3,613,4,14,2766	A1A1,A1A2,A1R,A2A2,A2R,RR		22.7321,33.0104,26.0447				2144,25,6159				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85039999_85040007delGCAGCGCCA	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.92_100delTGGCGCTGC	1.37:g.85040008_85040016delGCAGCGCCA	ENSP00000359664:p.Leu31_Leu33del					CTBS_uc001dkc.2_5'UTR|CTBS_uc001dkd.2_5'UTR|CTBS_uc001dkb.2_5'UTR	p.LAL31del	NM_004388	NP_004379	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	157_165	-			31_33					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.92_100delTGGCGCTGC	CCDS698.1																																																																																				0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		2	4	NA	NA	NA	NA	2	4	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184045767	184045767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:184045767delG	ENST00000346169.2	+	26	4201	c.3930delG	c.(3928-3930)ctgfs	p.L1310fs	EIF4G1_ENST00000411531.1_Frame_Shift_Del_p.L1271fs|EIF4G1_ENST00000352767.3_Frame_Shift_Del_p.L1317fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Frame_Shift_Del_p.L1115fs|EIF4G1_ENST00000435046.2_Frame_Shift_Del_p.L1114fs|EIF4G1_ENST00000342981.4_Frame_Shift_Del_p.L1311fs|EIF4G1_ENST00000424196.1_Frame_Shift_Del_p.L1317fs|EIF4G1_ENST00000350481.5_Frame_Shift_Del_p.L1146fs|EIF4G1_ENST00000382330.3_Frame_Shift_Del_p.L1317fs|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Frame_Shift_Del_p.L1270fs|EIF4G1_ENST00000441154.1_Frame_Shift_Del_p.L1147fs|EIF4G1_ENST00000427845.1_Frame_Shift_Del_p.L1224fs|EIF4G1_ENST00000392537.2_Frame_Shift_Del_p.L1223fs|EIF4G1_ENST00000319274.6_Frame_Shift_Del_p.L1310fs	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1310	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGGCATCTGTCTACTGCTC	0.537																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3928-3930)CTGfs		eukaryotic translation initiation factor 4							76.0	71.0	73.0					3																	184045767		2203	4300	6503	SO:0001589	frameshift_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045767delG	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3930delG	3.37:g.184045767delG	ENSP00000316879:p.Leu1310fs					EIF4G1_uc003fnt.2_Frame_Shift_Del_p.L1021fs|EIF4G1_uc003fnq.2_Frame_Shift_Del_p.L1223fs|EIF4G1_uc003fnr.2_Frame_Shift_Del_p.L1146fs|EIF4G1_uc010hxx.2_Frame_Shift_Del_p.L1317fs|EIF4G1_uc003fns.2_Frame_Shift_Del_p.L1270fs|EIF4G1_uc010hxy.2_Frame_Shift_Del_p.L1317fs|EIF4G1_uc003fnv.3_Frame_Shift_Del_p.L1311fs|EIF4G1_uc003fnu.3_Frame_Shift_Del_p.L1310fs|EIF4G1_uc003fnw.2_Frame_Shift_Del_p.L1317fs|EIF4G1_uc003fnx.2_Frame_Shift_Del_p.L1115fs|EIF4G1_uc003fny.3_Frame_Shift_Del_p.L1114fs|EIF4G1_uc003foa.2_5'Flank	p.L1310fs	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		26	4128	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1310			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Frame_Shift_Del	DEL	ENST00000346169.2	37	c.3930delG	CCDS3259.1																																																																																				0.537	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	113	NA	NA	NA	NA	7	113	---	---	---	---
