#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	16254617	16254617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:16254617C>G	ENST00000375759.3	+	11	2086	c.1882C>G	c.(1882-1884)Caa>Gaa	p.Q628E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	628	Arg-rich.|Tyr-rich.				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)		CGACTATAACCAAGATCGTAC	0.403																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1882-1884)CAA>GAA		spen homolog, transcriptional regulator							77.0	78.0	77.0					1																	16254617		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.chr1:16254617C>G		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.1882C>G	1.37:g.16254617C>G	ENSP00000364912:p.Gln628Glu					SPEN_uc010obp.1_Missense_Mutation_p.Q587E	p.Q628E	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	2086	+		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)	628			Arg-rich.|Tyr-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.1882C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884669	0.33255	.	.	ENSG00000065526	ENST00000375759	T	0.07908	3.15	4.54	3.55	0.40652	.	.	.	.	.	T	0.03739	0.0106	N	0.14661	0.345	0.24893	N	0.992154	B	0.25105	0.118	B	0.23852	0.049	T	0.45026	-0.9289	9	0.02654	T	1	-7.3521	5.0503	0.14505	0.1497:0.6218:0.1454:0.0831	.	628	Q96T58	MINT_HUMAN	E	628	ENSP00000364912:Q628E	ENSP00000364912:Q628E	Q	+	1	0	SPEN	16127204	0.855000	0.29742	1.000000	0.80357	0.988000	0.76386	1.284000	0.33249	2.514000	0.84764	0.563000	0.77884	CAA		0.403	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		32	56	0	0	0	0	32	56				
COL11A1	1301	broad.mit.edu	37	1	103471421	103471421	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:103471421C>T	ENST00000370096.3	-	18	2130	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Silent_p.P567P|COL11A1_ENST00000512756.1_Silent_p.P490P|COL11A1_ENST00000358392.2_Silent_p.P618P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	606	Collagen-like 3.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P606P(2)|p.P618P(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGCAGACCCGGAAGTCCAT	0.358																																						uc001dul.2		NA																	4	Substitution - coding silent(4)		lung(2)|endometrium(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1816-1818)CCG>CCA		alpha 1 type XI collagen isoform A							92.0	99.0	96.0					1																	103471421		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471421C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1818G>A	1.37:g.103471421C>T						COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.P618P|COL11A1_uc001dun.2_Silent_p.P567P|COL11A1_uc009weh.2_Silent_p.P490P	p.P606P	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	18	2136	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	606			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.1818G>A	CCDS778.1																																																																																				0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		28	54	0	0	0	0	28	54				
KCNA10	3744	broad.mit.edu	37	1	111060811	111060811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:111060811C>T	ENST00000369771.2	-	1	986	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	200			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R200H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CCAGAACTGACGGTGGATGTC	0.547																																						uc001dzt.1		NA																	2	Substitution - Missense(2)	p.R200H(1)	large_intestine(1)|lung(1)	ovary(3)|large_intestine(1)	4						c.(598-600)CGT>CAT		potassium voltage-gated channel, shaker-related							120.0	121.0	120.0					1																	111060811		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060811C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.599G>A	1.37:g.111060811C>T	ENSP00000358786:p.Arg200His						p.R200H	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	987	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	200		R -> H (in a colorectal cancer sample; somatic mutation).				Missense_Mutation	SNP	ENST00000369771.2	37	c.599G>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071551	0.76301	.	.	ENSG00000143105	ENST00000369771	T	0.67698	-0.28	5.93	5.02	0.67125	.	0.050482	0.64402	D	0.000001	T	0.68467	0.3004	M	0.91872	3.25	0.46458	D	0.999051	D	0.61697	0.99	P	0.47528	0.549	T	0.77302	-0.2638	10	0.87932	D	0	.	10.0313	0.42103	0.0:0.8466:0.0:0.1534	.	200	Q16322	KCA10_HUMAN	H	200	ENSP00000358786:R200H	ENSP00000358786:R200H	R	-	2	0	KCNA10	110862334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.088000	0.57678	1.510000	0.48803	0.655000	0.94253	CGT		0.547	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		27	45	0	0	0	0	27	45				
KCNA2	3737	broad.mit.edu	37	1	111147063	111147063	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:111147063C>T	ENST00000485317.1	-	3	1015	c.342G>A	c.(340-342)cgG>cgA	p.R114R	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.R114R|KCNA2_ENST00000369770.3_Silent_p.R114R|KCNA2_ENST00000440270.1_Silent_p.R114R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	114					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	GCTCATAAAACCGAATTTCTT	0.478																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	0				ovary(1)	1						c.(340-342)CGG>CGA		potassium voltage-gated channel, shaker-related							42.0	43.0	43.0					1																	111147063		2203	4300	6503	SO:0001819	synonymous_variant	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147063C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.342G>A	1.37:g.111147063C>T						KCNA2_uc009wfv.1_Silent_p.R114R|KCNA2_uc009wfw.2_Silent_p.R114R	p.R114R	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	838	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	114					Q86XG6	Silent	SNP	ENST00000485317.1	37	c.342G>A	CCDS827.1																																																																																				0.478	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		14	34	0	0	0	0	14	34				
RSBN1	54665	broad.mit.edu	37	1	114310877	114310877	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:114310877A>G	ENST00000261441.5	-	5	1856	c.1793T>C	c.(1792-1794)gTt>gCt	p.V598A	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	598						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACTCCAACAGCAGCCGT	0.438																																						uc001edq.2		NA																	0				ovary(1)	1						c.(1792-1794)GTT>GCT		round spermatid basic protein 1							82.0	80.0	80.0					1																	114310877		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114310877A>G	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1793T>C	1.37:g.114310877A>G	ENSP00000261441:p.Val598Ala					RSBN1_uc001edr.2_RNA	p.V598A	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1829	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	598					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1793T>C	CCDS862.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.037055	0.93630	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	M	0.83223	2.63	0.80722	D	1	D	0.61697	0.99	D	0.73380	0.98	T	0.81348	-0.0973	9	0.87932	D	0	-11.2295	15.9631	0.79945	1.0:0.0:0.0:0.0	.	598	Q5VWQ0	RSBN1_HUMAN	A	598	.	ENSP00000261441:V598A	V	-	2	0	RSBN1	114112400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.174000	0.68829	0.533000	0.62120	GTT		0.438	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		16	35	0	0	0	0	16	35				
HIPK1	204851	broad.mit.edu	37	1	114506106	114506106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:114506106G>T	ENST00000369558.1	+	10	2433	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000369553.1_Missense_Mutation_p.G340V|HIPK1_ENST00000406344.1_Missense_Mutation_p.G340V|HIPK1_ENST00000340480.4_Missense_Mutation_p.G360V|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000369561.4_Missense_Mutation_p.G700V|HIPK1_ENST00000426820.2_Missense_Mutation_p.G734V|HIPK1_ENST00000369559.4_Missense_Mutation_p.G734V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	734					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCGCAGCCGGCCGGCCGGCG	0.517																																						uc001eem.2		NA																	0				ovary(4)	4						c.(2200-2202)GGC>GTC		homeodomain-interacting protein kinase 1 isoform							52.0	57.0	55.0					1																	114506106		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114506106G>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2201G>T	1.37:g.114506106G>T	ENSP00000358571:p.Gly734Val					HIPK1_uc001eel.2_Missense_Mutation_p.G734V|HIPK1_uc001een.2_Missense_Mutation_p.G734V|HIPK1_uc001eeo.2_Missense_Mutation_p.G360V|HIPK1_uc001eep.2_Missense_Mutation_p.G340V|HIPK1_uc001eeq.2_Missense_Mutation_p.G27V	p.G734V	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	2362	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	734					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.2201G>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983509	0.35036	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T	0.58652	0.32;0.42;0.51;0.51;0.43;3.37;2.43;2.43	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000013	T	0.47229	0.1434	N	0.14661	0.345	0.80722	D	1	P;D;D;D	0.63046	0.461;0.964;0.987;0.992	B;P;P;P	0.55087	0.39;0.7;0.591;0.768	T	0.48151	-0.9060	10	0.38643	T	0.18	.	19.7866	0.96442	0.0:0.0:1.0:0.0	.	27;340;734;734	E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.;.;HIPK1_HUMAN;.	V	805;734;734;734;700;360;340;340	ENSP00000407442:G805V;ENSP00000358572:G734V;ENSP00000409673:G734V;ENSP00000358571:G734V;ENSP00000358574:G700V;ENSP00000340956:G360V;ENSP00000358566:G340V;ENSP00000384960:G340V	ENSP00000340956:G360V	G	+	2	0	HIPK1	114307629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.167000	0.71902	2.756000	0.94617	0.655000	0.94253	GGC		0.517	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		22	42	1	0	1.11e-12	1.31e-12	22	42				
ANKRD35	148741	broad.mit.edu	37	1	145562297	145562297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:145562297C>T	ENST00000355594.4	+	10	2072	c.1985C>T	c.(1984-1986)gCg>gTg	p.A662V		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	662										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCCAGAGGCGCAGGTCCAG	0.632																																					Melanoma(9;127 754 22988 51047)	uc001eob.1		NA																	0				ovary(4)|skin(1)	5						c.(1984-1986)GCG>GTG		ankyrin repeat domain 35							46.0	51.0	50.0					1																	145562297		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145562297C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1985C>T	1.37:g.145562297C>T	ENSP00000347802:p.Ala662Val					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A505V	p.A662V	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	2093	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		662			Potential.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1985C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925716	0.52759	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.58060	0.36	4.82	3.9	0.45041	.	0.000000	0.48286	D	0.000197	T	0.32882	0.0844	M	0.70595	2.14	0.80722	D	1	B	0.19073	0.033	B	0.11329	0.006	T	0.28681	-1.0036	10	0.36615	T	0.2	-11.0654	9.2345	0.37457	0.0:0.9006:0.0:0.0994	.	662	Q8N283	ANR35_HUMAN	V	571;662	ENSP00000347802:A662V	ENSP00000347802:A662V	A	+	2	0	ANKRD35	144273654	0.861000	0.29849	0.998000	0.56505	0.971000	0.66376	1.415000	0.34748	1.246000	0.43901	0.563000	0.77884	GCG		0.632	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		19	41	0	0	0	0	19	41				
FLG	2312	broad.mit.edu	37	1	152285838	152285838	+	Silent	SNP	C	C	T	rs148161383	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:152285838C>T	ENST00000368799.1	-	3	1559	c.1524G>A	c.(1522-1524)gcG>gcA	p.A508A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	508	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTTGGGACGCTGAATGCC	0.597									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1522-1524)GCG>GCA		filaggrin		C		0,4406		0,0,2203	326.0	316.0	320.0		1524	-6.8	0.0	1	dbSNP_134	320	1,8599		0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		508/4062	152285838	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285838C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1524G>A	1.37:g.152285838C>T						uc001ezv.2_5'Flank	p.A508A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1560	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		508			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.1524G>A	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		143	278	0	0	0	0	143	278				
NTRK1	4914	broad.mit.edu	37	1	156846199	156846199	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:156846199A>C	ENST00000524377.1	+	14	1681	c.1640A>C	c.(1639-1641)aAg>aCg	p.K547T	NTRK1_ENST00000358660.3_Missense_Mutation_p.K544T|NTRK1_ENST00000392302.2_Missense_Mutation_p.K511T|NTRK1_ENST00000368196.3_Missense_Mutation_p.K541T	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CAGGCACTGAAGGAGGCGTCC	0.657			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1639-1641)AAG>ACG		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						44.0	42.0	42.0					1																	156846199		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846199A>C	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1640A>C	1.37:g.156846199A>C	ENSP00000431418:p.Lys547Thr	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.K511T|NTRK1_uc009wsi.1_Missense_Mutation_p.K246T|NTRK1_uc001fqi.1_Missense_Mutation_p.K541T|NTRK1_uc009wsk.1_Missense_Mutation_p.K544T	p.K547T	NM_002529	NP_002520	P04629	NTRK1_HUMAN			14	1696	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		547			Cytoplasmic (Potential).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1640A>C	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313270	0.60414	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000008	D	0.89171	0.6639	M	0.64567	1.98	0.80722	D	1	D;P;D;D	0.89917	0.995;0.873;1.0;1.0	D;P;D;D	0.91635	0.951;0.803;0.999;0.999	D	0.90656	0.4586	10	0.87932	D	0	.	14.1543	0.65407	1.0:0.0:0.0:0.0	.	544;541;547;511	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	T	511;541;547;544	ENSP00000376120:K511T;ENSP00000357179:K541T;ENSP00000431418:K547T;ENSP00000351486:K544T	ENSP00000351486:K544T	K	+	2	0	NTRK1	155112823	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	9.139000	0.94554	2.216000	0.71823	0.459000	0.35465	AAG		0.657	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		6	27	0	0	0	0	6	27				
FASLG	356	broad.mit.edu	37	1	172634881	172634881	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:172634881G>T	ENST00000367721.2	+	4	755	c.571G>T	c.(571-573)Gta>Tta	p.V191L	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	191					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|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 neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GCTGTACTTTGTATATTCCAA	0.468																																					Ovarian(28;486 876 30334 44033)	uc001gis.2		NA																	0				lung(2)|breast(1)	3						c.(571-573)GTA>TTA		fas ligand							139.0	127.0	131.0					1																	172634881		2203	4300	6503	SO:0001583	missense	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172634881G>T	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.571G>T	1.37:g.172634881G>T	ENSP00000356694:p.Val191Leu					FASLG_uc001git.2_3'UTR	p.V191L	NM_000639	NP_000630	P48023	TNFL6_HUMAN			4	728	+			191			Extracellular (Potential).		Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	37	c.571G>T	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196651	0.58126	.	.	ENSG00000117560	ENST00000367721	D	0.95588	-3.75	5.24	4.32	0.51571	Tumour necrosis factor (3);Tumour necrosis factor-like (2);Tumour necrosis factor, conserved site (1);	0.142461	0.47093	D	0.000253	D	0.91968	0.7456	M	0.67700	2.07	0.80722	D	1	P	0.46784	0.884	B	0.42653	0.394	D	0.90599	0.4543	10	0.39692	T	0.17	-13.654	13.2418	0.60002	0.0:0.3048:0.6951:0.0	.	191	P48023	TNFL6_HUMAN	L	191	ENSP00000356694:V191L	ENSP00000356694:V191L	V	+	1	0	FASLG	170901504	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	2.912000	0.48782	1.190000	0.43042	0.650000	0.86243	GTA		0.468	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			25	61	1	0	1.43e-11	1.67e-11	25	61				
RASAL2	9462	broad.mit.edu	37	1	178423671	178423671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:178423671C>G	ENST00000462775.1	+	10	1780	c.1655C>G	c.(1654-1656)tCt>tGt	p.S552C	RASAL2_ENST00000448150.3_Missense_Mutation_p.S682C|RASAL2_ENST00000367649.3_Missense_Mutation_p.S700C	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	552					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGGAGATCTCTAATCCAGAC	0.423																																						uc001glr.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(1654-1656)TCT>TGT		RAS protein activator like 2 isoform 1							159.0	151.0	154.0					1																	178423671		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178423671C>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1655C>G	1.37:g.178423671C>G	ENSP00000420558:p.Ser552Cys					RASAL2_uc001glq.2_Missense_Mutation_p.S700C|RASAL2_uc009wxc.2_Missense_Mutation_p.S66C	p.S552C	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			10	1780	+			552					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1655C>G	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885998	0.91814	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;T;D	0.83075	-1.68;2.13;-1.68	5.72	5.72	0.89469	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.061337	0.64402	D	0.000002	D	0.93132	0.7813	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.977;0.992;0.985	D	0.93844	0.7139	10	0.87932	D	0	.	19.876	0.96870	0.0:1.0:0.0:0.0	.	682;552;700	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	C	682;700;552	ENSP00000407768:S682C;ENSP00000356621:S700C;ENSP00000420558:S552C	ENSP00000356621:S700C	S	+	2	0	RASAL2	176690294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.709000	0.92574	0.591000	0.81541	TCT		0.423	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		37	77	0	0	0	0	37	77				
C1orf27	54953	broad.mit.edu	37	1	186367550	186367550	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:186367550C>A	ENST00000287859.6	+	10	1011	c.886C>A	c.(886-888)Ccc>Acc	p.P296T	AL596220.1_ENST00000598663.1_5'Flank|C1orf27_ENST00000432021.3_Missense_Mutation_p.P273T|OCLM_ENST00000574641.1_5'Flank|C1orf27_ENST00000367470.3_Missense_Mutation_p.P273T|C1orf27_ENST00000419367.3_Missense_Mutation_p.P264T	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	296						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CAGCAGTAAACCCAAAGTTAA	0.378																																						uc001grw.2		NA																	0				ovary(1)	1						c.(886-888)CCC>ACC		odorant response abnormal 4 isoform 1							92.0	86.0	88.0					1																	186367550		1870	4111	5981	SO:0001583	missense	54953					integral to membrane	oxidoreductase activity|zinc ion binding	g.chr1:186367550C>A	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.886C>A	1.37:g.186367550C>A	ENSP00000287859:p.Pro296Thr					C1orf27_uc010poq.1_Missense_Mutation_p.P273T|C1orf27_uc010por.1_Missense_Mutation_p.P264T|OCLM_uc001gry.2_5'Flank	p.P296T	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN			10	1122	+			296					B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	ENST00000287859.6	37	c.886C>A	CCDS53448.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614839	0.66672	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000432021;ENST00000287859	T;T;T	0.41400	1.0;1.0;1.0	5.29	4.38	0.52667	.	0.052333	0.85682	D	0.000000	T	0.60560	0.2278	M	0.72894	2.215	0.50171	D	0.99985	D;D;D	0.76494	0.999;0.995;0.961	D;D;P	0.70716	0.97;0.963;0.793	T	0.59397	-0.7462	10	0.30854	T	0.27	-11.5386	13.7428	0.62857	0.0:0.9257:0.0:0.0743	.	264;273;296	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	T	273;264;296;296	ENSP00000356440:P273T;ENSP00000395084:P264T;ENSP00000287859:P296T	ENSP00000287859:P296T	P	+	1	0	C1orf27	184634173	1.000000	0.71417	0.934000	0.37439	0.846000	0.48090	5.924000	0.70054	1.226000	0.43582	0.467000	0.42956	CCC		0.378	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		28	30	1	0	7.42e-09	8.35e-09	28	30				
KCNT2	343450	broad.mit.edu	37	1	196309633	196309633	+	Nonsense_Mutation	SNP	G	G	A	rs528303127		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:196309633G>A	ENST00000294725.9	-	16	2536	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	KCNT2_ENST00000609185.1_Nonsense_Mutation_p.R491*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R491*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.R541*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.R152*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	541	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATAATGTATCGAGGACCTGGA	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		13704	0.0		0.0	False		,,,				2504	0.001					uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(1621-1623)CGA>TGA		potassium channel, subfamily T, member 2							71.0	71.0	71.0					1																	196309633		2203	4299	6502	SO:0001587	stop_gained	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309633G>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1621C>T	1.37:g.196309633G>A	ENSP00000294725:p.Arg541*					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.R491*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.R541*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.R541*|KCNT2_uc001gth.1_Nonsense_Mutation_p.R62*	p.R541*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			16	1681	-			541			Cytoplasmic (Potential).|RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	c.1621C>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	37	5.982073	0.97168	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	.	.	.	5.95	5.95	0.96441	.	0.000000	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.823	15.1373	0.72579	0.0:0.0:0.8587:0.1413	.	.	.	.	X	541;491;362;152;541	.	ENSP00000294725:R541X	R	-	1	2	KCNT2	194576256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.548000	0.67255	2.821000	0.97095	0.650000	0.86243	CGA		0.323	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		14	34	0	0	0	0	14	34				
OBSCN	84033	broad.mit.edu	37	1	228434319	228434319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:228434319C>A	ENST00000422127.1	+	13	3892	c.3848C>A	c.(3847-3849)gCc>gAc	p.A1283D	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1375D|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1283D|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1283	Ig-like 13.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGAGGTGGCCCAGGCCCAG	0.612																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3847-3849)GCC>GAC		obscurin, cytoskeletal calmodulin and							84.0	83.0	83.0					1																	228434319		2039	4181	6220	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228434319C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3848C>A	1.37:g.228434319C>A	ENSP00000409493:p.Ala1283Asp					OBSCN_uc001hsn.2_Missense_Mutation_p.A1283D	p.A1283D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			13	3892	+		Prostate(94;0.0405)	1283			Ig-like 13.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3848C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.404572	0.42613	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.67345	-0.26;-0.26	5.01	5.01	0.66863	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.394332	0.22766	N	0.055896	T	0.80576	0.4649	M	0.78456	2.415	0.80722	D	1	D;D	0.65815	0.987;0.995	D;P	0.64506	0.926;0.88	T	0.82396	-0.0478	10	0.56958	D	0.05	.	14.9913	0.71390	0.0:0.8465:0.1535:0.0	.	1283;1283	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	D	1283	ENSP00000284548:A1283D;ENSP00000409493:A1283D	ENSP00000284548:A1283D	A	+	2	0	OBSCN	226500942	0.987000	0.35691	1.000000	0.80357	0.449000	0.32228	2.862000	0.48388	2.305000	0.77605	0.563000	0.77884	GCC		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		33	45	1	0	2.85e-18	3.49e-18	33	45				
C1orf198	84886	broad.mit.edu	37	1	231004121	231004121	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:231004121G>T	ENST00000366663.5	-	1	278	c.138C>A	c.(136-138)gaC>gaA	p.D46E	C1orf198_ENST00000470540.1_Missense_Mutation_p.D8E|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	46						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCTTCTCCTTGTCCTGCATGA	0.682																																						uc001hub.2		NA																	0					0						c.(136-138)GAC>GAA		hypothetical protein LOC84886 isoform 1							24.0	28.0	27.0					1																	231004121		2203	4300	6503	SO:0001583	missense	84886							g.chr1:231004121G>T	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.138C>A	1.37:g.231004121G>T	ENSP00000355623:p.Asp46Glu					C1orf198_uc001huc.1_Intron|C1orf198_uc001hud.1_Missense_Mutation_p.D8E	p.D46E	NM_032800	NP_116189	Q9H425	CA198_HUMAN			1	182	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	46					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.138C>A	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	g	16.34	3.096026	0.56075	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000522201	T;T	0.31510	1.49;1.59	3.71	3.71	0.42584	.	0.068933	0.56097	U	0.000025	T	0.18257	0.0438	N	0.22421	0.69	0.80722	D	1	B	0.25772	0.134	B	0.25291	0.059	T	0.04255	-1.0965	10	0.09590	T	0.72	.	11.7607	0.51900	0.0:0.239:0.761:0.0	.	46	Q9H425	CA198_HUMAN	E	46;8;3	ENSP00000355623:D46E;ENSP00000428172:D8E	ENSP00000355623:D46E	D	-	3	2	C1orf198	229070744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.539000	0.45718	1.874000	0.54306	0.457000	0.33378	GAC		0.682	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		15	16	1	0	1.15e-07	1.27e-07	15	16				
CTNNA3	29119	broad.mit.edu	37	10	68139106	68139106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr10:68139106G>T	ENST00000433211.2	-	12	1710	c.1536C>A	c.(1534-1536)agC>agA	p.S512R	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S512R	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAAGATATGGCTTTCTGTAA	0.378																																						uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1534-1536)AGC>AGA		catenin, alpha 3							99.0	101.0	100.0					10																	68139106		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68139106G>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1536C>A	10.37:g.68139106G>T	ENSP00000389714:p.Ser512Arg					CTNNA3_uc001jmw.2_Missense_Mutation_p.S512R	p.S512R	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			12	1659	-			512						Missense_Mutation	SNP	ENST00000433211.2	37	c.1536C>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516419	0.64634	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37058	1.22;1.22	5.77	1.83	0.25207	.	0.000000	0.64402	D	0.000003	T	0.39937	0.1097	L	0.36672	1.1	0.80722	D	1	P	0.51791	0.948	P	0.57425	0.82	T	0.19877	-1.0292	10	0.56958	D	0.05	-6.5971	9.2728	0.37681	0.3003:0.0:0.6997:0.0	.	512	Q9UI47	CTNA3_HUMAN	R	512	ENSP00000389714:S512R;ENSP00000362849:S512R	ENSP00000362849:S512R	S	-	3	2	CTNNA3	67809112	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.030000	0.41108	0.784000	0.33661	-0.157000	0.13467	AGC		0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		18	40	1	0	2.35e-11	2.74e-11	18	40				
CTBP2	1488	broad.mit.edu	37	10	126682531	126682531	+	Silent	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr10:126682531C>A	ENST00000337195.5	-	8	1203	c.804G>T	c.(802-804)gtG>gtT	p.V268V	CTBP2_ENST00000531469.1_Silent_p.V268V|CTBP2_ENST00000309035.6_Silent_p.V808V|CTBP2_ENST00000334808.6_Silent_p.V336V|CTBP2_ENST00000494626.2_Silent_p.V268V|CTBP2_ENST00000411419.2_Silent_p.V268V	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	268					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGCTGCGTTCACAAGGAATG	0.557																																						uc009yak.2		NA																	0					0						c.(802-804)GTG>GTT		C-terminal binding protein 2 isoform 1							78.0	81.0	80.0					10																	126682531		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682531C>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.804G>T	10.37:g.126682531C>A						CTBP2_uc009yal.2_Silent_p.V268V|CTBP2_uc001lif.3_Silent_p.V268V|CTBP2_uc001lih.3_Silent_p.V268V|CTBP2_uc001lid.3_Silent_p.V336V|CTBP2_uc001lie.3_Silent_p.V808V	p.V268V	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	8	1091	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	268					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.804G>T	CCDS7643.1																																																																																				0.557	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		40	66	1	0	3.43e-17	4.16e-17	40	66				
OSBPL5	114879	broad.mit.edu	37	11	3121473	3121473	+	Silent	SNP	C	C	T	rs201682860		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:3121473C>T	ENST00000263650.7	-	14	1695	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	OSBPL5_ENST00000348039.5_Silent_p.S444S|OSBPL5_ENST00000389989.3_Silent_p.S444S|OSBPL5_ENST00000525498.1_Silent_p.S423S|OSBPL5_ENST00000542243.1_Silent_p.S143S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	512					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCAGCAGCGCCGACAGCGAGT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17806	0.0		0.001	False		,,,				2504	0.0					uc001lxk.2		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(1534-1536)TCG>TCA		oxysterol-binding protein-like protein 5 isoform							110.0	87.0	95.0					11																	3121473		2202	4298	6500	SO:0001819	synonymous_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3121473C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1536G>A	11.37:g.3121473C>T						OSBPL5_uc010qxq.1_Silent_p.S423S|OSBPL5_uc009ydw.2_Silent_p.S444S|OSBPL5_uc001lxl.2_Silent_p.S444S|OSBPL5_uc009ydx.2_Silent_p.S536S	p.S512S	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	14	1694	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	512					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	c.1536G>A	CCDS31344.1																																																																																				0.607	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			11	13	0	0	0	0	11	13				
OR5D14	219436	broad.mit.edu	37	11	55563815	55563815	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:55563815T>A	ENST00000335605.1	+	1	784	c.784T>A	c.(784-786)Tgt>Agt	p.C262S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTCCTTTACTGTGTACCCAA	0.488																																						uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(784-786)TGT>AGT		olfactory receptor, family 5, subfamily D,							87.0	79.0	82.0					11																	55563815		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563815T>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.784T>A	11.37:g.55563815T>A	ENSP00000334456:p.Cys262Ser						p.C262S	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	784	+		all_epithelial(135;0.196)	262			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.784T>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	t	14.87	2.665094	0.47677	.	.	ENSG00000186113	ENST00000335605	T	0.36157	1.27	5.08	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000230	T	0.32615	0.0835	L	0.40543	1.245	0.30885	N	0.731021	B	0.32188	0.359	B	0.42692	0.395	T	0.40194	-0.9576	10	0.66056	D	0.02	-18.8524	3.6673	0.08261	0.0:0.1722:0.2003:0.6275	.	262	Q8NGL3	OR5DE_HUMAN	S	262	ENSP00000334456:C262S	ENSP00000334456:C262S	C	+	1	0	OR5D14	55320391	0.000000	0.05858	1.000000	0.80357	0.744000	0.42396	-0.314000	0.08092	1.916000	0.55485	0.523000	0.50628	TGT		0.488	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		21	30	0	0	0	0	21	30				
MARK2	2011	broad.mit.edu	37	11	63666242	63666242	+	Silent	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:63666242A>G	ENST00000509502.2	+	6	775	c.312A>G	c.(310-312)gtA>gtG	p.V104V	MARK2_ENST00000402010.2_Silent_p.V137V|MARK2_ENST00000408948.3_Silent_p.V104V|MARK2_ENST00000377810.3_Silent_p.V104V|MARK2_ENST00000508192.1_Silent_p.V137V|MARK2_ENST00000413835.2_Silent_p.V137V|MARK2_ENST00000315032.8_Silent_p.V137V|MARK2_ENST00000513765.2_Silent_p.V104V|MARK2_ENST00000502399.3_Silent_p.V137V|MARK2_ENST00000361128.5_Silent_p.V137V|MARK2_ENST00000377809.4_Silent_p.V137V|MARK2_ENST00000425897.2_Silent_p.V104V|MARK2_ENST00000350490.7_Silent_p.V137V	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGGAGAGGTATTTGATTACC	0.552																																						uc001nxw.2		NA																	0				stomach(1)|ovary(1)|lung(1)	3						c.(409-411)GTA>GTG		MAP/microtubule affinity-regulating kinase 2							86.0	87.0	86.0					11																	63666242		2201	4297	6498	SO:0001819	synonymous_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63666242A>G	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.312A>G	11.37:g.63666242A>G						MARK2_uc001nxx.2_Silent_p.V137V|MARK2_uc001nxy.2_Silent_p.V137V|MARK2_uc001nxv.3_Silent_p.V137V|MARK2_uc001nxz.3_Silent_p.V104V|MARK2_uc009yoy.2_Silent_p.V104V	p.V137V	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			6	990	+			137			Protein kinase.			Silent	SNP	ENST00000509502.2	37	c.411A>G	CCDS41665.1																																																																																				0.552	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		17	52	0	0	0	0	17	52				
CPT1A	1374	broad.mit.edu	37	11	68552321	68552321	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:68552321G>A	ENST00000265641.5	-	10	1279	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	CPT1A_ENST00000539743.1_Silent_p.P375P|CPT1A_ENST00000376618.2_Silent_p.P375P|CPT1A_ENST00000540367.1_Silent_p.P375P	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	375					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TGGCCTCCCCGGGCTGAGGCT	0.642																																						uc001oog.3		NA																	0				skin(2)	2						c.(1123-1125)CCC>CCT		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						62.0	56.0	58.0					11																	68552321		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68552321G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1125C>T	11.37:g.68552321G>A						CPT1A_uc001oof.3_Silent_p.P375P|CPT1A_uc009ysj.2_Intron	p.P375P	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		10	1295	-	Esophageal squamous(3;3.28e-14)		375			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1125C>T	CCDS8185.1																																																																																				0.642	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		28	30	0	0	0	0	28	30				
CAPN5	726	broad.mit.edu	37	11	76796018	76796018	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:76796018A>C	ENST00000278559.3	+	2	275	c.86A>C	c.(85-87)gAc>gCc	p.D29A	CAPN5_ENST00000531028.1_Missense_Mutation_p.D29A|CAPN5_ENST00000456580.2_Missense_Mutation_p.D29A|CAPN5_ENST00000529629.1_Missense_Mutation_p.D29A	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	29	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTCTTCGAGGACCCCCTCTTC	0.642																																						uc001oxx.2		NA																	0					0						c.(85-87)GAC>GCC		calpain 5							34.0	38.0	37.0					11																	76796018		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76796018A>C		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.86A>C	11.37:g.76796018A>C	ENSP00000278559:p.Asp29Ala					CAPN5_uc009yup.2_Missense_Mutation_p.D29A|CAPN5_uc009yuq.2_Missense_Mutation_p.D65A|CAPN5_uc001oxy.2_Missense_Mutation_p.D69A	p.D29A	NM_004055	NP_004046	O15484	CAN5_HUMAN			2	271	+			29			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.86A>C	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932400	0.73442	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.18	5.18	0.71444	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	H	0.98901	4.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.83001	-0.0177	10	0.87932	D	0	.	12.99	0.58614	1.0:0.0:0.0:0.0	.	67;29;69;29	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	A	29;29;69;29;29;29	ENSP00000278559:D29A;ENSP00000435894:D29A;ENSP00000432332:D29A;ENSP00000409996:D29A	ENSP00000278559:D29A	D	+	2	0	CAPN5	76473666	1.000000	0.71417	0.998000	0.56505	0.520000	0.34377	8.280000	0.89903	1.956000	0.56807	0.533000	0.62120	GAC		0.642	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		5	28	0	0	0	0	5	28				
GRIA4	2893	broad.mit.edu	37	11	105804580	105804580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:105804580G>T	ENST00000530497.1	+	13	2179	c.2179G>T	c.(2179-2181)Gag>Tag	p.E727*	AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.E727*|GRIA4_ENST00000393127.2_Nonsense_Mutation_p.E727*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.E727*			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	727					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTTTCTCCTGGAGTCCACTAT	0.488																																						uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2179-2181)GAG>TAG		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						96.0	84.0	88.0					11																	105804580		2202	4299	6501	SO:0001587	stop_gained	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105804580G>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2179G>T	11.37:g.105804580G>T	ENSP00000435775:p.Glu727*					GRIA4_uc001piw.2_Nonsense_Mutation_p.E727*|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA	p.E727*	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	14	2625	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	727			Extracellular (Potential).	Glutamate (By similarity).	Q86XE8	Nonsense_Mutation	SNP	ENST00000530497.1	37	c.2179G>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	44	10.656579	0.99445	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4058	0.94647	0.0:0.0:1.0:0.0	.	.	.	.	X	727;727;727;727;32	.	ENSP00000282499:E727X	E	+	1	0	GRIA4	105309790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.754000	0.98908	2.591000	0.87537	0.585000	0.79938	GAG		0.488	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			20	31	1	0	4.63e-17	5.59e-17	20	31				
ADAMTS8	11095	broad.mit.edu	37	11	130275888	130275888	+	Silent	SNP	G	G	A	rs368658938		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:130275888G>A	ENST00000257359.6	-	9	2941	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	745	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCAGGTTGCCGTTGAGCAGGT	0.597																																						uc001qgg.3		NA																	0				central_nervous_system(1)	1						c.(2233-2235)AAC>AAT		ADAM metallopeptidase with thrombospondin type 1		G		2,4256		0,2,2127	78.0	81.0	80.0		2235	-8.3	0.6	11		80	2,8458		0,2,4228	no	coding-synonymous	ADAMTS8	NM_007037.4		0,4,6355	AA,AG,GG		0.0236,0.047,0.0315		745/890	130275888	4,12714	2129	4230	6359	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275888G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2235C>T	11.37:g.130275888G>A						ADAMTS8_uc001qgf.2_Silent_p.N226N	p.N745N	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	2593	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	745			Spacer.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.2235C>T	CCDS41732.1																																																																																				0.597	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		17	70	0	0	0	0	17	70				
KMT2D	8085	broad.mit.edu	37	12	49435983	49435983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:49435983G>A	ENST00000301067.7	-	28	5997	c.5998C>T	c.(5998-6000)Cag>Tag	p.Q2000*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2000					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGACTCCGCTGGTTATAGGAG	0.607																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(5998-6000)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							34.0	36.0	35.0					12																	49435983		2058	4183	6241	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49435983G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5998C>T	12.37:g.49435983G>A	ENSP00000301067:p.Gln2000*	HNSCC(34;0.089)					p.Q2000*	NM_003482	NP_003473	O14686	MLL2_HUMAN			28	5998	-			2000					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.5998C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	46	12.476326	0.99671	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.34	5.34	0.76211	.	0.000000	0.36374	N	0.002638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1988	0.89831	0.0:0.0:1.0:0.0	.	.	.	.	X	2000	.	ENSP00000301067:Q2000X	Q	-	1	0	MLL2	47722250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.842000	0.99487	2.686000	0.91538	0.561000	0.74099	CAG		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	7	0	0	0	0	7	7				
FMNL3	91010	broad.mit.edu	37	12	50044492	50044492	+	Missense_Mutation	SNP	C	C	A	rs149056505	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:50044492C>A	ENST00000293590.5	-	17	2200	c.1967G>T	c.(1966-1968)cGc>cTc	p.R656L	FMNL3_ENST00000335154.5_Missense_Mutation_p.R656L|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656L|FMNL3_ENST00000352151.5_Missense_Mutation_p.R605L			Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CTCAGCCGAGCGGCCAGCCTT	0.582																																						uc001ruv.1		NA																	0				breast(2)|pancreas(2)	4						c.(1966-1968)CGC>CTC		formin-like 3 isoform 1							97.0	95.0	96.0					12																	50044492		2053	4215	6268	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50044492C>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1967G>T	12.37:g.50044492C>A	ENSP00000293590:p.Arg656Leu					FMNL3_uc001ruw.1_Missense_Mutation_p.R605L|FMNL3_uc001rut.1_Missense_Mutation_p.R222L|FMNL3_uc001ruu.1_Missense_Mutation_p.R506L	p.R656L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			17	2201	-			656			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1967G>T		.	.	.	.	.	.	.	.	.	.	C	8.053	0.766450	0.15983	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.12	5.12	0.69794	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.050640	0.64402	D	0.000001	T	0.04452	0.0122	N	0.00869	-1.13	0.44547	D	0.997508	B;B;B	0.20887	0.049;0.002;0.007	B;B;B	0.19148	0.024;0.008;0.015	T	0.34428	-0.9829	10	0.05721	T	0.95	.	17.8586	0.88773	0.0:1.0:0.0:0.0	.	605;656;656	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	L	656;656;605;656	ENSP00000335655:R656L;ENSP00000447479:R656L;ENSP00000344311:R605L;ENSP00000293590:R656L	ENSP00000293590:R656L	R	-	2	0	FMNL3	48330759	0.958000	0.32768	1.000000	0.80357	0.976000	0.68499	1.190000	0.32126	2.834000	0.97654	0.650000	0.86243	CGC		0.582	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		23	32	1	0	4.72e-08	5.27e-08	23	32				
DAZAP2	9802	broad.mit.edu	37	12	51636287	51636287	+	3'UTR	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:51636287C>T	ENST00000412716.3	+	0	1168				DAZAP2_ENST00000439799.2_3'UTR|DAZAP2_ENST00000449723.3_3'UTR|DAZAP2_ENST00000549732.2_3'UTR|DAZAP2_ENST00000549555.1_Nonsense_Mutation_p.Q159*|DAZAP2_ENST00000551313.1_3'UTR|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2							cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CACATACCTTCAGCACTTCTC	0.483																																						uc010snd.1		NA																	0					0						c.(475-477)CAG>TAG		DAZ associated protein 2 isoform c							136.0	119.0	125.0					12																	51636287		2203	4300	6503	SO:0001624	3_prime_UTR_variant	9802						WW domain binding	g.chr12:51636287C>T	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.*45C>T	12.37:g.51636287C>T						DAZAP2_uc001ryb.2_3'UTR|DAZAP2_uc010snc.1_3'UTR|DAZAP2_uc010sne.1_3'UTR|DAZAP2_uc010snf.1_Intron	p.Q159*	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN			4	659	+			Error:Variant_position_missing_in_Q15038_after_alignment					A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Nonsense_Mutation	SNP	ENST00000412716.3	37	c.475C>T	CCDS8809.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978927	0.53827	.	.	ENSG00000183283	ENST00000549555	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0862	0.64957	0.0:0.849:0.151:0.0	.	.	.	.	X	159	.	ENSP00000448051:Q159X	Q	+	1	0	DAZAP2	49922554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.711000	0.54868	2.726000	0.93360	0.655000	0.94253	CAG		0.483	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		19	46	0	0	0	0	19	46				
NR4A1	3164	broad.mit.edu	37	12	52451148	52451148	+	Silent	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:52451148C>A	ENST00000243050.1	+	7	1688	c.1374C>A	c.(1372-1374)ggC>ggA	p.G458G	NR4A1_ENST00000394825.1_Silent_p.G458G|NR4A1_ENST00000545748.1_Silent_p.G512G|NR4A1_ENST00000550082.1_Silent_p.G471G|NR4A1_ENST00000360284.3_Silent_p.G471G|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394824.2_Silent_p.G458G	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	458	Ligand-binding. {ECO:0000255}.				cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTAAGCCAGGCGAGGGCAAGC	0.607																																						uc001rzs.2		NA																	0					0						c.(1372-1374)GGC>GGA		nuclear receptor subfamily 4, group A, member 1							97.0	84.0	88.0					12																	52451148		2203	4300	6503	SO:0001819	synonymous_variant	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451148C>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1374C>A	12.37:g.52451148C>A						NR4A1_uc010sno.1_Silent_p.G471G|NR4A1_uc001rzt.2_Silent_p.G458G|NR4A1_uc009zmc.2_Missense_Mutation_p.A72E	p.G458G	NM_002135	NP_002126	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	7	1688	+			458			Ligand-binding (Potential).		B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	c.1374C>A	CCDS8818.1																																																																																				0.607	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			17	33	1	0	3.41e-10	3.92e-10	17	33				
PA2G4	5036	broad.mit.edu	37	12	56506656	56506656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:56506656A>G	ENST00000303305.6	+	13	1588	c.1169A>G	c.(1168-1170)aAt>aGt	p.N390S	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	390	Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TTAGAAGAAAATGAAGCTGGG	0.517																																						uc001sjm.2		NA																	0					0						c.(1168-1170)AAT>AGT		ErbB3-binding protein 1							91.0	93.0	92.0					12																	56506656		2203	4298	6501	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56506656A>G	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1169A>G	12.37:g.56506656A>G	ENSP00000302886:p.Asn390Ser					PA2G4_uc009zol.2_Missense_Mutation_p.N372S|PA2G4_uc009zom.2_3'UTR	p.N390S	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		13	1588	+			390			Necessary for nucleolar localization.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.1169A>G	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.934793	0.34189	.	.	ENSG00000170515	ENST00000303305;ENST00000546435	.	.	.	5.06	5.06	0.68205	.	0.316084	0.38111	N	0.001806	T	0.30198	0.0757	N	0.11255	0.115	0.80722	D	1	B;B	0.25272	0.122;0.015	B;B	0.19391	0.025;0.005	T	0.15665	-1.0429	9	0.07644	T	0.81	.	13.9215	0.63935	1.0:0.0:0.0:0.0	.	372;390	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	S	390;372	.	ENSP00000302886:N390S	N	+	2	0	PA2G4	54792923	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.935000	0.48963	2.125000	0.65367	0.379000	0.24179	AAT		0.517	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		27	65	0	0	0	0	27	65				
RAB21	23011	broad.mit.edu	37	12	72176380	72176380	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:72176380T>G	ENST00000261263.3	+	6	733	c.477T>G	c.(475-477)taT>taG	p.Y159*		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	159					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						CAAAACATTATCATACTTCAG	0.303																																						uc001swt.2		NA																	0					0						c.(475-477)TAT>TAG		RAB21, member RAS oncogene family							116.0	118.0	118.0					12																	72176380		2203	4296	6499	SO:0001587	stop_gained	23011				protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:72176380T>G	AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.477T>G	12.37:g.72176380T>G	ENSP00000261263:p.Tyr159*						p.Y159*	NM_014999	NP_055814	Q9UL25	RAB21_HUMAN			6	729	+			159					Q14466|Q569H3	Nonsense_Mutation	SNP	ENST00000261263.3	37	c.477T>G	CCDS9003.1	.	.	.	.	.	.	.	.	.	.	T	38	7.246543	0.98161	.	.	ENSG00000080371	ENST00000261263	.	.	.	5.85	2.21	0.28008	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	8.8532	0.35212	0.0:0.2255:0.0:0.7745	.	.	.	.	X	159	.	ENSP00000261263:Y159X	Y	+	3	2	RAB21	70462647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.417000	0.34770	0.135000	0.18707	0.533000	0.62120	TAT		0.303	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1			10	22	0	0	0	0	10	22				
ACSS3	79611	broad.mit.edu	37	12	81545669	81545669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:81545669C>A	ENST00000548058.1	+	6	1878	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ACSS3_ENST00000548324.1_Nonsense_Mutation_p.S5*|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.S322*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	323						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTACACTGGTCAATGTCTTCC	0.353																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(967-969)TCA>TAA		acyl-CoA synthetase short-chain family member 3							145.0	139.0	141.0					12																	81545669		2203	4300	6503	SO:0001587	stop_gained	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81545669C>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.968C>A	12.37:g.81545669C>A	ENSP00000449535:p.Ser323*					ACSS3_uc001szm.1_Nonsense_Mutation_p.S322*|ACSS3_uc001szn.1_Nonsense_Mutation_p.S5*	p.S323*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			6	1059	+			323					Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	c.968C>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	38	7.158800	0.98103	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	.	.	.	5.63	4.71	0.59529	.	0.134947	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.61	16.6405	0.85070	0.0:0.8707:0.1293:0.0	.	.	.	.	X	323;322;5	.	ENSP00000261206:S322X	S	+	2	0	ACSS3	80069800	0.999000	0.42202	0.995000	0.50966	0.763000	0.43281	4.304000	0.59104	2.669000	0.90835	0.650000	0.86243	TCA		0.353	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		19	45	1	0	5.26e-13	6.25e-13	19	45				
CMKLR1	1240	broad.mit.edu	37	12	108686279	108686279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:108686279C>T	ENST00000312143.7	-	3	824	c.461G>A	c.(460-462)cGc>cAc	p.R154H	CMKLR1_ENST00000397688.2_Missense_Mutation_p.R152H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R154H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R154H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R152H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	154					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTAAGCCAGGCGAACGCTGCG	0.562																																						uc009zuw.2		NA																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(460-462)CGC>CAC		chemokine-like receptor 1 isoform a							76.0	78.0	77.0					12																	108686279		2133	4250	6383	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686279C>T	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.461G>A	12.37:g.108686279C>T	ENSP00000311733:p.Arg154His					CMKLR1_uc001tmw.2_Missense_Mutation_p.R154H|CMKLR1_uc001tmv.2_Missense_Mutation_p.R152H|CMKLR1_uc009zuv.2_Missense_Mutation_p.R154H	p.R154H	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	652	-			154			Cytoplasmic (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.461G>A	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	14.14	2.447366	0.43429	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.305729	0.31821	N	0.007005	T	0.46483	0.1395	M	0.64630	1.985	0.22280	N	0.999239	D	0.57899	0.981	P	0.50162	0.633	T	0.51434	-0.8706	10	0.62326	D	0.03	.	7.8036	0.29189	0.0:0.8218:0.0:0.1782	.	154	Q99788	CML1_HUMAN	H	154;154;152;152;154	ENSP00000311733:R154H;ENSP00000401293:R154H;ENSP00000380803:R152H;ENSP00000447579:R152H;ENSP00000449716:R154H	ENSP00000311733:R154H	R	-	2	0	CMKLR1	107210409	0.001000	0.12720	0.571000	0.28486	0.069000	0.16628	0.766000	0.26560	2.496000	0.84212	0.556000	0.70494	CGC		0.562	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			10	38	0	0	0	0	10	38				
TPTE2	93492	broad.mit.edu	37	13	20025355	20025355	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr13:20025355C>T	ENST00000400230.2	-	11	796	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	TPTE2_ENST00000390680.2_Missense_Mutation_p.R174Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R211Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R140Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R140Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R174Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R211Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R251Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	251	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATCTAGAAACCGCACAACTTC	0.338																																						uc001umd.2		NA																	0					0						c.(751-753)CGG>CAG		TPTE and PTEN homologous inositol lipid							110.0	98.0	102.0					13																	20025355		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20025355C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.752G>A	13.37:g.20025355C>T	ENSP00000383089:p.Arg251Gln					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R140Q|TPTE2_uc001ume.2_Missense_Mutation_p.R174Q|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	p.R251Q	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	12	963	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	251			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.752G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	8.941	0.965874	0.18659	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	2.63	1.75	0.24633	Phosphatase tensin type (1);	0.107075	0.64402	D	0.000008	D	0.95768	0.8623	M	0.69463	2.115	0.40703	D	0.982504	P;P;P	0.48407	0.882;0.91;0.74	B;B;B	0.33846	0.161;0.171;0.043	D	0.92247	0.5805	9	.	.	.	-10.1714	5.7821	0.18312	0.0:0.8407:0.0:0.1593	.	140;174;251	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Q	211;140;251;174;174;251;211;140;251;120	ENSP00000372438:R211Q;ENSP00000382974:R140Q;ENSP00000383089:R251Q;ENSP00000255310:R174Q;ENSP00000375098:R174Q;ENSP00000372437:R251Q;ENSP00000372435:R211Q;ENSP00000442218:R140Q	.	R	-	2	0	TPTE2	18923355	0.990000	0.36364	0.765000	0.31456	0.140000	0.21249	2.921000	0.48852	0.649000	0.30751	0.194000	0.17425	CGG		0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		20	41	0	0	0	0	20	41				
PCDH9	5101	broad.mit.edu	37	13	67802486	67802486	+	Silent	SNP	A	A	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr13:67802486A>T	ENST00000377865.2	-	1	221	c.87T>A	c.(85-87)acT>acA	p.T29T	PCDH9_ENST00000544246.1_Silent_p.T29T|PCDH9_ENST00000328454.5_Silent_p.T29T|PCDH9_ENST00000377861.3_Silent_p.T29T|PCDH9_ENST00000456367.1_Silent_p.T29T			Q9HC56	PCDH9_HUMAN	protocadherin 9	29	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCTCTCTAATAGTGTAAATAA	0.433																																						uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(85-87)ACT>ACA		protocadherin 9 isoform 1 precursor							91.0	88.0	89.0					13																	67802486		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802486A>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.87T>A	13.37:g.67802486A>T						PCDH9_uc001vil.2_Silent_p.T29T|PCDH9_uc010thl.1_Silent_p.T29T|PCDH9_uc001vin.3_Silent_p.T29T	p.T29T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	779	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	29			Extracellular (Potential).|Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.87T>A	CCDS9444.1																																																																																				0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		27	42	0	0	0	0	27	42				
TPP2	7174	broad.mit.edu	37	13	103271177	103271177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr13:103271177C>T	ENST00000376065.4	+	5	637	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	TPP2_ENST00000376052.3_Missense_Mutation_p.H201Y	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	201	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGGTATGGCATGATGGCGA	0.368																																						uc001vpi.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(601-603)CAT>TAT		tripeptidyl peptidase II							179.0	171.0	174.0					13																	103271177		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103271177C>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.601C>T	13.37:g.103271177C>T	ENSP00000365233:p.His201Tyr						p.H201Y	NM_003291	NP_003282	P29144	TPP2_HUMAN			5	704	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		201					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.601C>T	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362004	0.24684	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.88277	-2.36;-2.36	5.69	3.93	0.45458	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.209732	0.48767	D	0.000164	D	0.84714	0.5533	M	0.62154	1.92	0.80722	D	1	B	0.16603	0.018	B	0.19391	0.025	T	0.75897	-0.3155	10	0.22109	T	0.4	.	7.5505	0.27793	0.1356:0.7134:0.0:0.151	.	201	P29144	TPP2_HUMAN	Y	201	ENSP00000365233:H201Y;ENSP00000365220:H201Y	ENSP00000365220:H201Y	H	+	1	0	TPP2	102069178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.885000	0.28227	0.731000	0.32448	0.585000	0.79938	CAT		0.368	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			29	85	0	0	0	0	29	85				
SEC23A	10484	broad.mit.edu	37	14	39509955	39509955	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:39509955G>A	ENST00000307712.6	-	18	2640	c.2123C>T	c.(2122-2124)aCt>aTt	p.T708I	SEC23A_ENST00000536508.1_Missense_Mutation_p.T606I|SEC23A_ENST00000537403.1_Missense_Mutation_p.T506I|SEC23A_ENST00000545328.2_Missense_Mutation_p.T679I	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	708					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCATGTTCAGTGTCAATGTA	0.428																																						uc001wup.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(2122-2124)ACT>ATT		SEC23-related protein A							136.0	128.0	131.0					14																	39509955		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39509955G>A	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.2123C>T	14.37:g.39509955G>A	ENSP00000306881:p.Thr708Ile					SEC23A_uc010tqa.1_Missense_Mutation_p.T594I|SEC23A_uc010tqb.1_Missense_Mutation_p.T679I	p.T708I	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	18	2346	-	Hepatocellular(127;0.213)		708					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.2123C>T	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092142	0.94149	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.75	5.75	0.90469	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.90814	3.15	0.80722	D	1	P;D;D	0.61080	0.949;0.989;0.98	P;D;P	0.67103	0.885;0.949;0.876	T	0.82153	-0.0598	10	0.72032	D	0.01	-20.1586	19.9525	0.97208	0.0:0.0:1.0:0.0	.	679;606;708	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	I	506;708;606;679	ENSP00000444193:T506I;ENSP00000306881:T708I;ENSP00000437715:T606I;ENSP00000445393:T679I	ENSP00000306881:T708I	T	-	2	0	SEC23A	38579706	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.669000	0.98622	2.719000	0.93026	0.655000	0.94253	ACT		0.428	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			83	84	0	0	0	0	83	84				
SOS2	6655	broad.mit.edu	37	14	50597308	50597308	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:50597308G>T	ENST00000216373.5	-	20	3522	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	SOS2_ENST00000543680.1_Missense_Mutation_p.P1050Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1083					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGGAGAGGTTGGTGCTGACAC	0.423																																						uc001wxs.3		NA																	0				ovary(2)	2						c.(3247-3249)CCA>CAA		son of sevenless homolog 2							186.0	162.0	170.0					14																	50597308		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50597308G>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3248C>A	14.37:g.50597308G>T	ENSP00000216373:p.Pro1083Gln					SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.P1050Q	p.P1083Q	NM_006939	NP_008870	Q07890	SOS2_HUMAN			20	3346	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1083					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3248C>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292564	0.80914	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.80653	-1.4;-1.29	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89303	0.3627	10	0.54805	T	0.06	.	19.6501	0.95796	0.0:0.0:1.0:0.0	.	1050;1083	B7ZKT6;Q07890	.;SOS2_HUMAN	Q	1083;1050	ENSP00000216373:P1083Q;ENSP00000445328:P1050Q	ENSP00000216373:P1083Q	P	-	2	0	SOS2	49667058	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.038000	0.93771	2.657000	0.90304	0.484000	0.47621	CCA		0.423	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			65	83	1	0	1.32e-49	1.64e-49	65	83				
ZC3H14	79882	broad.mit.edu	37	14	89063145	89063145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:89063145G>A	ENST00000251038.5	+	10	1572	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	ZC3H14_ENST00000336693.4_Missense_Mutation_p.M415I|ZC3H14_ENST00000318308.6_Missense_Mutation_p.M151I|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Missense_Mutation_p.M449I|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000359301.3_Missense_Mutation_p.M415I|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.M151I|ZC3H14_ENST00000556945.1_Missense_Mutation_p.M449I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	449						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTCTGCAGATGAGTCAAGGTT	0.383																																						uc001xww.2		NA																	0				ovary(2)|skin(1)	3						c.(1345-1347)ATG>ATA		zinc finger CCCH-type containing 14 isoform 1							113.0	98.0	103.0					14																	89063145		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89063145G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1347G>A	14.37:g.89063145G>A	ENSP00000251038:p.Met449Ile					ZC3H14_uc010twd.1_Missense_Mutation_p.M449I|ZC3H14_uc010twe.1_Missense_Mutation_p.M449I|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Missense_Mutation_p.M294I|ZC3H14_uc001xwy.2_Missense_Mutation_p.M415I|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Intron|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Missense_Mutation_p.M151I	p.M449I	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			10	1572	+			449					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1347G>A	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.712956	0.00706	.	.	ENSG00000100722	ENST00000251038;ENST00000353091;ENST00000359301;ENST00000380684;ENST00000556945;ENST00000555755;ENST00000336693;ENST00000318308;ENST00000555900	.	.	.	5.69	-4.19	0.03835	.	1.235310	0.05020	N	0.472656	T	0.24392	0.0591	N	0.12182	0.205	0.23260	N	0.998024	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.001	T	0.24693	-1.0153	9	0.20046	T	0.44	0.1101	12.7449	0.57276	0.0852:0.1484:0.6958:0.0706	.	430;449;449;151;449	F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-6;Q6PJT7	.;.;.;.;ZC3HE_HUMAN	I	449;449;415;430;449;449;415;151;151	.	ENSP00000251038:M449I	M	+	3	0	ZC3H14	88132898	0.930000	0.31532	0.738000	0.30950	0.152000	0.21847	-0.214000	0.09292	-0.608000	0.05731	-1.253000	0.01494	ATG		0.383	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		23	56	0	0	0	0	23	56				
TTC7B	145567	broad.mit.edu	37	14	91007854	91007854	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:91007854G>T	ENST00000328459.6	-	20	2511	c.2390C>A	c.(2389-2391)gCc>gAc	p.A797D	TTC7B_ENST00000357056.2_Missense_Mutation_p.A814D|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	797										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GACCTCGTGGGCTGTCGAGTT	0.647																																						uc001xyp.2		NA																	0				ovary(2)	2						c.(2389-2391)GCC>GAC		tetratricopeptide repeat domain 7B							54.0	44.0	48.0					14																	91007854		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91007854G>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2390C>A	14.37:g.91007854G>T	ENSP00000336127:p.Ala797Asp					TTC7B_uc001xyo.2_Missense_Mutation_p.A241D|TTC7B_uc010ats.2_RNA	p.A797D	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			20	2512	-		Melanoma(154;0.222)	797			TPR 10.		Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.2390C>A	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.30|14.30	2.493792|2.493792	0.44352|0.44352	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972|ENST00000555894;ENST00000557292	T;T;T|.	0.71579|.	-0.58;-0.58;0.45|.	5.72|5.72	4.84|4.84	0.62591|0.62591	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51312|0.51312	0.1667|0.1667	N|N	0.25031|0.25031	0.7|0.7	0.80722|0.80722	D|D	1|1	D;P|.	0.54772|.	0.968;0.904|.	P;B|.	0.49999|.	0.628;0.393|.	T|T	0.46925|0.46925	-0.9156|-0.9156	10|5	0.51188|.	T|.	0.08|.	-11.1982|-11.1982	14.8314|14.8314	0.70151|0.70151	0.0691:0.0:0.9309:0.0|0.0691:0.0:0.9309:0.0	.|.	797;814|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	D|R	695;814;797;284|138;224	ENSP00000349564:A814D;ENSP00000336127:A797D;ENSP00000451440:A284D|.	ENSP00000336127:A797D|.	A|S	-|-	2|3	0|2	TTC7B|TTC7B	90077607|90077607	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.963000|0.963000	0.63663|0.63663	9.783000|9.783000	0.99037|0.99037	1.426000|1.426000	0.47256|0.47256	0.462000|0.462000	0.41574|0.41574	GCC|AGC		0.647	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			12	42	1	0	1.58e-08	1.78e-08	12	42				
PLA2G4E	123745	broad.mit.edu	37	15	42292147	42292147	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr15:42292147G>A	ENST00000399518.3	-	9	1390	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L273F	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	295					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCATCGGAAAGGCAGTCGAGG	0.642																																						uc001zow.1		NA																	0					0						c.(817-819)CTT>TTT		phospholipase A2, group 4E							24.0	27.0	26.0					15																	42292147		1949	4153	6102	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42292147G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.904C>T	15.37:g.42292147G>A	ENSP00000382434:p.Leu302Phe					PLA2G4E_uc010udc.1_5'Flank|PLA2G4E_uc001zov.1_5'Flank	p.L273F	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	8	817	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	295					Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.817C>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992835	0.74703	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.02656	4.3;4.21	5.37	5.37	0.77165	.	0.400947	0.16206	U	0.224703	T	0.17874	0.0429	M	0.84585	2.705	0.40106	D	0.976421	D	0.89917	1.0	D	0.80764	0.994	T	0.00132	-1.2012	10	0.87932	D	0	-31.2727	14.6151	0.68541	0.0:0.0:1.0:0.0	.	273	C9JK77	.	F	302;273	ENSP00000382434:L302F;ENSP00000413897:L273F	ENSP00000382434:L302F	L	-	1	0	PLA2G4E	40079439	0.995000	0.38212	0.159000	0.22649	0.027000	0.11550	2.147000	0.42226	2.529000	0.85273	0.563000	0.77884	CTT		0.642	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		4	6	0	0	0	0	4	6				
STRA6	64220	broad.mit.edu	37	15	74490148	74490148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr15:74490148G>A	ENST00000323940.5	-	3	370	c.125C>T	c.(124-126)tCc>tTc	p.S42F	STRA6_ENST00000574278.1_Missense_Mutation_p.S57F|STRA6_ENST00000535552.1_Missense_Mutation_p.S79F|STRA6_ENST00000432245.2_Missense_Mutation_p.S42F|STRA6_ENST00000395105.4_Missense_Mutation_p.S42F|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Missense_Mutation_p.S42F|STRA6_ENST00000449139.2_Missense_Mutation_p.S42F|STRA6_ENST00000423167.2_Missense_Mutation_p.S42F|STRA6_ENST00000563965.1_Missense_Mutation_p.S81F	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	42					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGTGTGGCAGGAGGGCACTTC	0.622																																						uc002axk.2		NA																	0				central_nervous_system(1)	1						c.(124-126)TCC>TTC		stimulated by retinoic acid gene 6 homolog							112.0	88.0	96.0					15																	74490148		2198	4297	6495	SO:0001583	missense	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74490148G>A	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.125C>T	15.37:g.74490148G>A	ENSP00000326085:p.Ser42Phe					STRA6_uc002axi.2_5'Flank|STRA6_uc010ulh.1_Missense_Mutation_p.S80F|STRA6_uc002axj.2_Missense_Mutation_p.S81F|STRA6_uc010bji.2_Missense_Mutation_p.S42F|STRA6_uc002axl.2_5'UTR|STRA6_uc002axm.2_Missense_Mutation_p.S42F|STRA6_uc002axn.2_Missense_Mutation_p.S42F|STRA6_uc010uli.1_Missense_Mutation_p.S79F|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_Missense_Mutation_p.S42F	p.S42F	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN			3	307	-			42			Extracellular (Potential).		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	c.125C>T	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191708	0.38707	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000432245	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	4.28	2.22	0.28083	.	1.005590	0.07995	N	0.987848	T	0.73156	0.3551	L	0.44542	1.39	0.19300	N	0.999979	P;P;P;P;P;P	0.45715	0.865;0.865;0.834;0.775;0.73;0.865	B;B;B;B;B;B	0.43052	0.307;0.307;0.406;0.231;0.178;0.307	T	0.62609	-0.6818	10	0.56958	D	0.05	-7.4248	2.8177	0.05461	0.2732:0.0:0.5094:0.2174	.	79;80;42;42;42;81	F5GYI8;B7Z5G7;Q9BX79-2;Q9BX79-3;Q9BX79;Q9BX79-4	.;.;.;.;STRA6_HUMAN;.	F	42;42;81;42;79;42	ENSP00000378537:S42F;ENSP00000326085:S42F;ENSP00000413012:S42F;ENSP00000440238:S79F;ENSP00000407176:S42F	ENSP00000326085:S42F	S	-	2	0	STRA6	72277201	0.038000	0.19896	0.405000	0.26409	0.374000	0.29953	0.124000	0.15728	0.486000	0.27676	0.467000	0.42956	TCC		0.622	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			3	25	0	0	0	0	3	25				
CREBBP	1387	broad.mit.edu	37	16	3788645	3788646	+	Missense_Mutation	DNP	TA	TA	AC			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:3788645_3788646TA>AC	ENST00000262367.5	-	26	5117_5118	c.4308_4309TA>GT	c.(4306-4311)agTAtt>agGTtt	p.1436_1437SI>RF	CREBBP_ENST00000382070.3_Missense_Mutation_p.1398_1399SI>RF	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1436	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGAAATGAATACTATCCAGAT	0.416			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4306-4311)AGTATT>AGGTTT		CREB binding protein isoform a																																				SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788645_3788646TA>AC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4308_4309delinsAC	16.37:g.3788645_3788646delinsAC	ENSP00000262367:p.S1436_I1437delinsRF					CREBBP_uc002cvw.2_Missense_Mutation_p.1398_1399SI>RF	p.1436_1437SI>RF	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	4512_4513	-		Ovarian(90;0.0266)	1436_1437			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	DNP	ENST00000262367.5	37	c.4308_4309TA>GT	CCDS10509.1																																																																																				0.416	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		3	19	0	0	0	0	3	19				
ERCC4	2072	broad.mit.edu	37	16	14029437	14029437	+	Missense_Mutation	SNP	C	C	T	rs139197943		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:14029437C>T	ENST00000311895.7	+	8	1657	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	550					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CCTGAAAGAACCCCTCACTAT	0.463			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2		NA	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1648-1650)CCC>TCC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent		C	SER/PRO	0,4394		0,0,2197	69.0	69.0	69.0		1648	5.3	1.0	16	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERCC4	NM_005236.2	74	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	550/917	14029437	1,12993	2197	4300	6497	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029437C>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1648C>T	16.37:g.14029437C>T	ENSP00000310520:p.Pro550Ser					ERCC4_uc010uyz.1_Missense_Mutation_p.P100S	p.P550S	NM_005236	NP_005227	Q92889	XPF_HUMAN			8	1657	+			550					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1648C>T	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829200	0.90955	0.0	1.16E-4	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.61040	0.14	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	L	0.50333	1.59	0.80722	D	1	D	0.59357	0.985	P	0.51945	0.685	T	0.62286	-0.6886	10	0.38643	T	0.18	-29.0482	18.3806	0.90449	0.0:1.0:0.0:0.0	.	550	Q92889	XPF_HUMAN	S	550;539	ENSP00000310520:P550S	ENSP00000310520:P550S	P	+	1	0	ERCC4	13936938	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.445000	0.80570	2.644000	0.89710	0.591000	0.81541	CCC		0.463	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		22	53	0	0	0	0	22	53				
ACSM2B	348158	broad.mit.edu	37	16	20570579	20570579	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:20570579A>G	ENST00000329697.6	-	3	536	c.368T>C	c.(367-369)aTc>aCc	p.I123T	ACSM2B_ENST00000565322.1_Missense_Mutation_p.I44T|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I123T|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I123T|ACSM2B_ENST00000567001.1_Missense_Mutation_p.I123T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	123					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCAGCCCAGGATCACCAGCCA	0.577																																						uc002dhj.3		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(367-369)ATC>ACC		acyl-CoA synthetase medium-chain family member							42.0	36.0	38.0					16																	20570579		2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570579A>G	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.368T>C	16.37:g.20570579A>G	ENSP00000327453:p.Ile123Thr					ACSM2B_uc002dhk.3_Missense_Mutation_p.I123T|ACSM2B_uc010bwf.1_Missense_Mutation_p.I123T	p.I123T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			4	578	-			123					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.368T>C	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	A	0.050	-1.252152	0.01469	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.44881	0.91;0.91	3.51	-2.89	0.05665	AMP-dependent synthetase/ligase (1);	0.851319	0.10016	N	0.726655	T	0.23289	0.0563	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.009	T	0.26538	-1.0100	10	0.17832	T	0.49	-1.6411	4.5965	0.12332	0.5431:0.0:0.2175:0.2394	.	123;123	A8K051;Q68CK6	.;ACS2B_HUMAN	T	123	ENSP00000327453:I123T;ENSP00000390378:I123T	ENSP00000327453:I123T	I	-	2	0	ACSM2B	20478080	0.007000	0.16637	0.167000	0.22817	0.111000	0.19643	0.062000	0.14389	-0.416000	0.07473	-0.231000	0.12243	ATC		0.577	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		8	17	0	0	0	0	8	17				
CLN3	1201	broad.mit.edu	37	16	28497943	28497943	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:28497943G>A	ENST00000569430.1	-	9	1308	c.489C>T	c.(487-489)ggC>ggT	p.G163G	CLN3_ENST00000357857.9_Silent_p.G109G|CLN3_ENST00000354630.5_Silent_p.G163G|CLN3_ENST00000565316.1_Silent_p.G163G|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000360019.2_Silent_p.G163G|CLN3_ENST00000355477.5_Silent_p.G163G|CLN3_ENST00000535392.1_Silent_p.G85G|CLN3_ENST00000395653.4_Silent_p.G63G|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000333496.9_Silent_p.G139G|CLN3_ENST00000568224.1_Silent_p.G85G|CLN3_ENST00000567963.1_Silent_p.G163G|CLN3_ENST00000359984.7_Silent_p.G163G			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	163					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CCTCCCCAAGGCCTGATGAGA	0.607																																						uc002dpo.2		NA																	0					0						c.(487-489)GGC>GGT		ceroid-lipofuscinosis, neuronal 3							85.0	68.0	74.0					16																	28497943		2196	4299	6495	SO:0001819	synonymous_variant	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28497943G>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.489C>T	16.37:g.28497943G>A						uc010vct.1_Intron|CLN3_uc002dpl.2_Silent_p.G85G|CLN3_uc010vcu.1_Silent_p.G63G|CLN3_uc002dpn.2_Intron|CLN3_uc002dpm.2_Silent_p.G109G|CLN3_uc010vcv.1_Silent_p.G139G|CLN3_uc010byd.2_Silent_p.G163G|CLN3_uc002dpp.2_Silent_p.G163G|CLN3_uc002dpt.1_Silent_p.G63G|CLN3_uc002dpq.1_Silent_p.G163G|CLN3_uc010bye.1_Silent_p.G163G|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Silent_p.G109G|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Silent_p.G109G|CLN3_uc002dqa.2_Silent_p.G214G|CLN3_uc010vcx.1_Silent_p.G63G|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_RNA	p.G163G	NM_000086	NP_000077	Q13286	CLN3_HUMAN			7	812	-			163					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Silent	SNP	ENST00000569430.1	37	c.489C>T	CCDS10632.1																																																																																				0.607	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			3	9	0	0	0	0	3	9				
CENPBD1	92806	broad.mit.edu	37	16	90038291	90038291	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:90038291T>G	ENST00000314994.3	-	1	651	c.40A>C	c.(40-42)Agt>Cgt	p.S14R	AFG3L1P_ENST00000437774.1_RNA|RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	14	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						CTTTTGGCACTAGGGATGACA	0.502																																						uc002fpr.2		NA																	0					0						c.(40-42)AGT>CGT		CENPB DNA-binding domains containing 1							44.0	49.0	47.0					16																	90038291		2100	4217	6317	SO:0001583	missense	92806				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:90038291T>G	AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.40A>C	16.37:g.90038291T>G	ENSP00000393854:p.Ser14Arg					AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank	p.S14R	NM_145039	NP_659476	B2RD01	CENP1_HUMAN			1	652	-			14			HTH psq-type.			Missense_Mutation	SNP	ENST00000314994.3	37	c.40A>C	CCDS45556.1	.	.	.	.	.	.	.	.	.	.	t	23.6	4.435514	0.83885	.	.	ENSG00000177946	ENST00000314994	T	0.47177	0.85	4.66	1.04	0.20106	Helix-turn-helix, Psq-like (1);	.	.	.	.	T	0.28863	0.0716	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.17930	-1.0353	9	0.20519	T	0.43	.	3.5627	0.07888	0.0:0.2089:0.1976:0.5935	.	14	B2RD01	CENP1_HUMAN	R	14	ENSP00000393854:S14R	ENSP00000393854:S14R	S	-	1	0	CENPBD1	88565792	0.000000	0.05858	0.006000	0.13384	0.640000	0.38277	-0.987000	0.03743	0.799000	0.34018	0.456000	0.33151	AGT		0.502	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421897.1	NM_145039		9	23	0	0	0	0	9	23				
ACADVL	37	broad.mit.edu	37	17	7124963	7124963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:7124963A>G	ENST00000356839.5	+	7	763	c.584A>G	c.(583-585)aAg>aGg	p.K195R	DLG4_ENST00000399510.2_5'Flank|ACADVL_ENST00000543245.2_Missense_Mutation_p.K218R|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Missense_Mutation_p.K173R|ACADVL_ENST00000581562.1_Intron	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	195	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TTTGGCACAAAGGCCCAGAAA	0.577																																						uc002gev.2		NA																	0				ovary(3)	3						c.(583-585)AAG>AGG		acyl-Coenzyme A dehydrogenase, very long chain							72.0	67.0	69.0					17																	7124963		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7124963A>G	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.584A>G	17.37:g.7124963A>G	ENSP00000349297:p.Lys195Arg					DLG4_uc002get.3_5'Flank|DLG4_uc010vto.1_5'Flank|ACADVL_uc010vtp.1_Missense_Mutation_p.K205R|ACADVL_uc010vtq.1_Missense_Mutation_p.K241R|ACADVL_uc002gew.2_Missense_Mutation_p.K173R|ACADVL_uc002gex.2_Missense_Mutation_p.K119R	p.K195R	NM_000018	NP_000009	P49748	ACADV_HUMAN			7	735	+			195			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.584A>G	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588509	0.66105	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.98926	-5.24;-5.24	5.72	5.72	0.89469	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.390449	0.29684	N	0.011480	D	0.97062	0.9040	L	0.53671	1.685	0.31320	N	0.686154	B;B;B;P	0.36048	0.304;0.093;0.052;0.534	B;B;B;B	0.35931	0.163;0.214;0.156;0.207	D	0.98288	1.0512	10	0.54805	T	0.06	.	12.3912	0.55360	1.0:0.0:0.0:0.0	.	241;218;173;195	G3V1M7;F5H2A9;P49748-2;P49748	.;.;.;ACADV_HUMAN	R	218;241;173;195;241	ENSP00000438689:K218R;ENSP00000344152:K173R	ENSP00000325395:K195R	K	+	2	0	ACADVL	7065687	0.003000	0.15002	0.995000	0.50966	0.932000	0.56968	0.700000	0.25601	2.187000	0.69744	0.459000	0.35465	AAG		0.577	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		27	57	0	0	0	0	27	57				
RAB5C	5878	broad.mit.edu	37	17	40282496	40282496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:40282496G>A	ENST00000346213.4	-	2	237	c.25C>T	c.(25-27)Cga>Tga	p.R9*	CTD-2132N18.3_ENST00000592574.1_Nonsense_Mutation_p.R9*|RAB5C_ENST00000547517.1_Nonsense_Mutation_p.R42*|RAB5C_ENST00000393860.3_Nonsense_Mutation_p.R9*	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	9					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCATTGGGTCGTGCTGCGCCT	0.602																																						uc002hyz.2		NA																	0				large_intestine(1)|skin(1)	2						c.(25-27)CGA>TGA		RAB5C, member RAS oncogene family isoform a							47.0	42.0	44.0					17																	40282496		2203	4300	6503	SO:0001587	stop_gained	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40282496G>A	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.25C>T	17.37:g.40282496G>A	ENSP00000345689:p.Arg9*					RAB5C_uc002hza.2_Nonsense_Mutation_p.R9*|RAB5C_uc010cxx.2_Nonsense_Mutation_p.R42*|RAB5C_uc010cxy.2_Intron	p.R9*	NM_201434	NP_958842	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	3	342	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	9					F8W1H5|Q6FH55|Q9P0Y5	Nonsense_Mutation	SNP	ENST00000346213.4	37	c.25C>T	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736408	0.69189	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	.	.	.	5.01	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8963	13.4921	0.61402	0.075:0.0:0.9249:0.0	.	.	.	.	X	9;9;42;9;9;9	.	ENSP00000345689:R9X	R	-	1	2	RAB5C	37536022	1.000000	0.71417	0.984000	0.44739	0.164000	0.22412	6.546000	0.73887	1.344000	0.45657	-0.373000	0.07131	CGA		0.602	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		11	19	0	0	0	0	11	19				
MGAT5B	146664	broad.mit.edu	37	17	74944756	74944756	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:74944756A>T	ENST00000569840.2	+	18	2789	c.2215A>T	c.(2215-2217)Atg>Ttg	p.M739L	RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000428789.2_Missense_Mutation_p.M748L|MGAT5B_ENST00000301618.4_Missense_Mutation_p.M737L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	739					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGTCGGAGATGAACCACCT	0.652																																						uc002jti.2		NA																	0				ovary(2)|skin(1)	3						c.(2242-2244)ATG>TTG		N-acetylglucosaminyltranferase VB isoform 2							40.0	38.0	38.0					17																	74944756		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74944756A>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.2215A>T	17.37:g.74944756A>T	ENSP00000456037:p.Met739Leu					MGAT5B_uc002jth.2_Missense_Mutation_p.M737L|MGAT5B_uc002jtj.2_Missense_Mutation_p.M144L	p.M748L	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			16	2345	+			739			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.2242A>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.565924	0.65651	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.42900	0.97;0.96	5.25	5.25	0.73442	.	0.044386	0.85682	D	0.000000	T	0.58380	0.2118	M	0.63843	1.955	0.44816	D	0.997823	P;P;P	0.48407	0.91;0.872;0.872	D;B;B	0.62955	0.909;0.424;0.424	T	0.54669	-0.8259	10	0.28530	T	0.3	-33.6292	14.3397	0.66617	1.0:0.0:0.0:0.0	.	144;748;737	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	L	737;748	ENSP00000301618:M737L;ENSP00000391227:M748L	ENSP00000301618:M737L	M	+	1	0	MGAT5B	72456351	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.101000	0.64566	1.980000	0.57719	0.379000	0.24179	ATG		0.652	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		4	9	0	0	0	0	4	9				
CDH2	1000	broad.mit.edu	37	18	25593761	25593761	+	Silent	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr18:25593761G>C	ENST00000269141.3	-	3	708	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CDH2_ENST00000399380.3_Silent_p.L64L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	95					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTCAGAAGAGAGTGGAAAGC	0.448																																						uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(283-285)CTC>CTG		cadherin 2, type 1 preproprotein							196.0	176.0	182.0					18																	25593761		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25593761G>C	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.285C>G	18.37:g.25593761G>C						CDH2_uc010xbn.1_Silent_p.L64L	p.L95L	NM_001792	NP_001783	P19022	CADH2_HUMAN			3	744	-			95					A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.285C>G	CCDS11891.1																																																																																				0.448	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		24	21	0	0	0	0	24	21				
CCDC159	126075	broad.mit.edu	37	19	11464486	11464488	+	Missense_Mutation	TNP	GCA	GCA	TAT			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:11464486_11464488GCA>TAT	ENST00000588790.1	+	11	1155_1157	c.708_710GCA>TAT	c.(706-711)ctGCAg>ctTATg	p.Q237M	DKFZP761J1410_ENST00000251473.5_5'Flank|DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.Q237M			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	352										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGCACGTGCTGCAGAACTCCATA	0.601																																						uc010xlw.1		NA																	0				ovary(1)	1						c.(955-960)CTGCAG>CTTATG		coiled-coil domain-containing-like																																				SO:0001583	missense	126075							g.chr19:11464486_11464488GCA>TAT	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.708_710GCA>TAT	19.37:g.11464486GCA>TAT	ENSP00000468232:p.Gln237Met					CCDC159_uc010xlt.1_Missense_Mutation_p.Q237M|LPPR2_uc002mre.1_5'Flank|LPPR2_uc002mrf.1_5'Flank	p.Q320M	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN			10	1036_1038	+			352					B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	TNP	ENST00000588790.1	37	c.957_959GCA>TAT	CCDS45976.1																																																																																				0.601	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		4	7	0	0	0	0	4	7				
ZNF333	84449	broad.mit.edu	37	19	14805946	14805946	+	Splice_Site	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:14805946G>A	ENST00000292530.6	+	3	218		c.e3+1		ZNF333_ENST00000601629.1_Splice_Site|ZNF333_ENST00000601134.1_Splice_Site|ZNF333_ENST00000540689.2_Splice_Site|ZNF333_ENST00000536363.1_Splice_Site	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GCCTCCAGGGGTAAGGCTGGC	0.582																																					NSCLC(60;75 1281 16985 25154 29885)	uc002mzn.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.e3+1		zinc finger protein 333							91.0	75.0	81.0					19																	14805946		2203	4300	6503	SO:0001630	splice_region_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14805946G>A		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.127+1G>A	19.37:g.14805946G>A						ZNF333_uc010dzq.2_Splice_Site_p.G43_splice|ZNF333_uc002mzk.3_Splice_Site|ZNF333_uc002mzl.3_Splice_Site_p.G43_splice|ZNF333_uc002mzm.2_Splice_Site_p.G43_splice|ZNF333_uc010dzr.1_Splice_Site	p.G43_splice	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN			3	261	+								Q6P2E6|Q86WS6|Q8TDL0	Splice_Site	SNP	ENST00000292530.6	37	c.127_splice	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516131	0.44763	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	.	.	.	2.47	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.44366	D	0.997268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5955	0.33712	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF333	14666946	0.693000	0.27728	0.202000	0.23494	0.606000	0.37113	0.772000	0.26647	1.691000	0.51100	0.655000	0.94253	.		0.582	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	Intron	13	26	0	0	0	0	13	26				
JAK3	3718	broad.mit.edu	37	19	17941381	17941381	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:17941381G>A	ENST00000527670.1	-	21	3056	c.3027C>T	c.(3025-3027)gaC>gaT	p.D1009D	JAK3_ENST00000534444.1_Silent_p.D1009D|JAK3_ENST00000458235.1_Silent_p.D1009D			P52333	JAK3_HUMAN	Janus kinase 3	1009	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGCTCCAGACGTCTGACTGGC	0.597		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		0				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(3025-3027)GAC>GAT		Janus kinase 3							66.0	66.0	66.0					19																	17941381		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17941381G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3027C>T	19.37:g.17941381G>A						JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.D1009D	p.D1009D	NM_000215	NP_000206	P52333	JAK3_HUMAN			22	3127	-			1009			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.3027C>T	CCDS12366.1																																																																																				0.597	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		18	24	0	0	0	0	18	24				
ZNF546	339327	broad.mit.edu	37	19	40520277	40520277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:40520277G>A	ENST00000347077.4	+	7	1316	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R341K	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGACCTTTAGGGTACAACGA	0.388																																						uc002oms.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1099-1101)AGG>AAG		zinc finger protein 546							66.0	63.0	64.0					19																	40520277		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520277G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1100G>A	19.37:g.40520277G>A	ENSP00000339823:p.Arg367Lys					ZNF546_uc002omt.2_Missense_Mutation_p.R341K	p.R367K	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			7	1356	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		367			C2H2-type 6.		A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.1100G>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	8.207	0.799375	0.16397	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07327	3.2	2.7	1.64	0.23874	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	N	0.16130	0.375	0.09310	N	1	P;B	0.39352	0.669;0.136	B;B	0.23716	0.028;0.048	T	0.40440	-0.9563	9	0.21014	T	0.42	.	3.981	0.09495	0.1441:0.25:0.606:0.0	.	341;367	B3KVL3;Q86UE3	.;ZN546_HUMAN	K	367;4	ENSP00000339823:R367K	ENSP00000339823:R367K	R	+	2	0	ZNF546	45212117	0.000000	0.05858	0.049000	0.19019	0.864000	0.49448	-0.914000	0.04038	0.666000	0.31087	0.655000	0.94253	AGG		0.388	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		18	35	0	0	0	0	18	35				
PSG8	440533	broad.mit.edu	37	19	43268311	43268311	+	Missense_Mutation	SNP	T	T	C	rs201774677	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:43268311T>C	ENST00000306511.4	-	2	284	c.187A>G	c.(187-189)Act>Gct	p.T63A	PSG8_ENST00000401467.2_Missense_Mutation_p.T63A|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.T63A	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	63	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATGTAGCCAGTAAGATTCTGG	0.458													.|||	3	0.000599042	0.0	0.0	5008	,	,		21910	0.0		0.001	False		,,,				2504	0.002					uc002ouo.2		NA																	0					0						c.(187-189)ACT>GCT		pregnancy specific beta-1-glycoprotein 8 isoform							171.0	182.0	178.0					19																	43268311		2203	4296	6499	SO:0001583	missense	440533					extracellular region		g.chr19:43268311T>C	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.187A>G	19.37:g.43268311T>C	ENSP00000305005:p.Thr63Ala					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.T63A|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.T63A|PSG8_uc002oum.3_Missense_Mutation_p.T63A|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.T63A	p.T63A	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			2	285	-		Prostate(69;0.00899)	63			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.187A>G	CCDS33037.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	0.113	-1.135620	0.01742	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.01464	4.86;4.86;4.86	1.35	-2.7	0.06004	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00784	0.0026	N	0.05441	-0.05	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.003;0.003;0.001;0.002	T	0.47315	-0.9127	9	0.09590	T	0.72	.	0.4425	0.00488	0.1946:0.2339:0.3238:0.2477	.	63;63;63;63;63	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	A	63	ENSP00000385869:T63A;ENSP00000386090:T63A;ENSP00000305005:T63A	ENSP00000305005:T63A	T	-	1	0	PSG8	47960151	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-4.754000	0.00190	-1.034000	0.03295	0.155000	0.16302	ACT		0.458	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			90	197	0	0	0	0	90	197				
AP2A1	160	broad.mit.edu	37	19	50302996	50302996	+	Silent	SNP	G	G	A	rs543455936		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:50302996G>A	ENST00000359032.5	+	10	1245	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	AP2A1_ENST00000354293.5_Silent_p.T415T	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	415					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACCTGGAGACGGCAGACTACG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18287	0.0		0.0	False		,,,				2504	0.0					uc002ppn.2		NA																	0				ovary(2)	2						c.(1243-1245)ACG>ACA		adaptor-related protein complex 2, alpha 1							39.0	43.0	42.0					19																	50302996		2201	4297	6498	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50302996G>A	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1245G>A	19.37:g.50302996G>A						AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.T415T|AP2A1_uc002ppp.1_5'Flank	p.T415T	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	10	1456	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	415					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.1245G>A	CCDS46148.1																																																																																				0.642	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			9	18	0	0	0	0	9	18				
SIGLEC10	89790	broad.mit.edu	37	19	51914599	51914599	+	Silent	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:51914599T>C	ENST00000339313.5	-	11	1964	c.1848A>G	c.(1846-1848)acA>acG	p.T616T	SIGLEC10_ENST00000441969.3_Silent_p.T463T|SIGLEC10_ENST00000442846.3_Silent_p.T373T|SIGLEC10_ENST00000436984.2_Silent_p.T473T|SIGLEC10_ENST00000432469.2_Silent_p.T438T|SIGLEC10_ENST00000439889.2_Silent_p.T558T|SIGLEC10_ENST00000353836.5_Silent_p.T521T|SIGLEC10_ENST00000525998.1_Silent_p.T431T|SIGLEC10_ENST00000356298.5_Silent_p.T616T|CTD-2616J11.3_ENST00000532473.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	616					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GACTGTTTGGTGTGGCTTTCT	0.507																																						uc002pwo.2		NA																	0				skin(1)	1						c.(1846-1848)ACA>ACG		sialic acid binding Ig-like lectin 10 precursor							178.0	186.0	183.0					19																	51914599		2203	4300	6503	SO:0001819	synonymous_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51914599T>C	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1848A>G	19.37:g.51914599T>C						SIGLEC10_uc002pwp.2_Silent_p.T558T|SIGLEC10_uc002pwq.2_Silent_p.T463T|SIGLEC10_uc002pwr.2_Silent_p.T521T|SIGLEC10_uc010ycy.1_Silent_p.T431T|SIGLEC10_uc010ycz.1_Silent_p.T473T|SIGLEC10_uc010eow.2_Silent_p.T333T	p.T616T	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	11	2464	-		all_neural(266;0.0199)	616			Cytoplasmic (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	c.1848A>G	CCDS12832.1																																																																																				0.507	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		27	52	0	0	0	0	27	52				
KIR3DL3	115653	broad.mit.edu	37	19	55239225	55239225	+	Silent	SNP	T	T	C	rs375683431		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:55239225T>C	ENST00000291860.1	+	4	522	c.504T>C	c.(502-504)gtT>gtC	p.V168V	KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	168	Ig-like C2-type 2. {ECO:0000305}.		V -> I (in allele KIR3DL3*00101, allele KIR3DL3*00102, allele KIR3DL3*00103, allele KIR3DL3*0030101, allele KIR3DL3*00901, allele KIR3DL3*00902, allele KIR3DL3*010 and allele KIR3DL3*028; dbSNP:rs270790). {ECO:0000269|PubMed:9862332}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGCGCCTCGTTGGACAGCTCC	0.557																																						uc002qgu.1		NA																	0				ovary(2)	2						c.(502-504)GTT>GTC		killer cell immunoglobulin-like receptor, three		T		2,3984		1,0,1992	141.0	115.0	124.0		504	-2.8	0.0	19		124	6,6956		2,2,3477	no	coding-synonymous	KIR3DL3	NM_153443.3		3,2,5469	CC,CT,TT		0.0862,0.0502,0.0731		168/411	55239225	8,10940	1993	3481	5474	SO:0001819	synonymous_variant	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55239225T>C	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.504T>C	19.37:g.55239225T>C						KIR2DL3_uc002qgv.2_Intron	p.V168V	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	522	+			168			Ig-like C2-type 2.|Extracellular (Potential).		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Silent	SNP	ENST00000291860.1	37	c.504T>C	CCDS12903.1																																																																																				0.557	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		4	71	0	0	0	0	4	71				
ZNF671	79891	broad.mit.edu	37	19	58232346	58232346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:58232346G>T	ENST00000317398.6	-	4	1203	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Missense_Mutation_p.Q272K	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGCCACACTGATAGAGTCTT	0.473																																						uc002qpz.3		NA																	0				ovary(1)	1						c.(1108-1110)CAG>AAG		zinc finger protein 671							69.0	61.0	64.0					19																	58232346		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232346G>T		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1108C>A	19.37:g.58232346G>T	ENSP00000321848:p.Gln370Lys					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.Q293K|ZNF671_uc010yhf.1_Missense_Mutation_p.Q272K	p.Q370K	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1207	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	370			C2H2-type 5.		A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1108C>A	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	G	6.500	0.460359	0.12342	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.16597	2.33;2.33	1.88	-3.76	0.04359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.01209	-0.955	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.31223	-0.9951	9	0.09338	T	0.73	.	1.3261	0.02126	0.1274:0.3127:0.1969:0.3631	.	370	Q8TAW3	ZN671_HUMAN	K	370;272	ENSP00000321848:Q370K;ENSP00000338670:Q272K	ENSP00000321848:Q370K	Q	-	1	0	ZNF671	62924158	0.000000	0.05858	0.005000	0.12908	0.946000	0.59487	-10.288000	0.00007	-1.730000	0.01362	0.467000	0.42956	CAG		0.473	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		18	34	1	0	5.01e-05	5.43e-05	18	34				
CCDC85A	114800	broad.mit.edu	37	2	56420052	56420052	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:56420052G>A	ENST00000407595.2	+	2	1219	c.717G>A	c.(715-717)aaG>aaA	p.K239K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	239	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGCAGAAGCCCCGGAGCG	0.672																																						uc002rzn.2		NA																	0				breast(3)|ovary(2)	5						c.(715-717)AAG>AAA		coiled-coil domain containing 85A							20.0	32.0	28.0					2																	56420052		2137	4241	6378	SO:0001819	synonymous_variant	114800							g.chr2:56420052G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.717G>A	2.37:g.56420052G>A							p.K239K	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1219	+			239			His-rich.			Silent	SNP	ENST00000407595.2	37	c.717G>A	CCDS46290.1																																																																																				0.672	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			16	18	0	0	0	0	16	18				
ANKRD36	375248	broad.mit.edu	37	2	97784187	97784187	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:97784187A>G	ENST00000461153.2	+	3	663	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	ANKRD36_ENST00000420699.2_Missense_Mutation_p.Y140C			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	140										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TACGCTGTGTATAATGAAGAT	0.398																																						uc010yva.1		NA																	0					0						c.(418-420)TAT>TGT		ankyrin repeat domain 36							55.0	46.0	49.0					2																	97784187		1843	4087	5930	SO:0001583	missense	375248							g.chr2:97784187A>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.419A>G	2.37:g.97784187A>G	ENSP00000419530:p.Tyr140Cys					ANKRD36_uc002sxn.2_Missense_Mutation_p.Y140C|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.Y140C|ANKRD36_uc002sxp.3_RNA	p.Y140C	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			3	663	+			140			ANK 4.		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.419A>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	A	8.875	0.950134	0.18431	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000289105;ENST00000455519	T;T	0.64438	-0.1;-0.1	1.4	-2.79	0.05841	Ankyrin repeat-containing domain (4);	0.967029	0.08444	N	0.945006	T	0.64461	0.2600	L	0.42686	1.345	0.09310	N	1	B;D;B	0.71674	0.018;0.998;0.003	B;D;B	0.79784	0.004;0.993;0.001	T	0.53697	-0.8402	10	0.39692	T	0.17	.	2.3813	0.04355	0.3142:0.0:0.3229:0.3629	.	140;140;140	A6QL64;F2Z332;A6QL64-4	AN36A_HUMAN;.;.	C	140	ENSP00000419530:Y140C;ENSP00000391950:Y140C	ENSP00000289105:Y140C	Y	+	2	0	ANKRD36	97147914	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-3.846000	0.00352	-1.779000	0.01280	0.155000	0.16302	TAT		0.398	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			21	11	0	0	0	0	21	11				
SCN9A	6335	broad.mit.edu	37	2	167055277	167055277	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:167055277A>G	ENST00000409435.1	-	26	5871	c.5872T>C	c.(5872-5874)Tat>Cat	p.Y1958H	SCN9A_ENST00000303354.6_Missense_Mutation_p.Y1959H|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Y1947H|SCN9A_ENST00000375387.4_Missense_Mutation_p.Y1959H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1958					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACACTATCATATGAAGGTGGA	0.358																																						uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(5839-5841)TAT>CAT		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						80.0	75.0	77.0					2																	167055277		1969	4175	6144	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055277A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5872T>C	2.37:g.167055277A>G	ENSP00000386330:p.Tyr1958His					uc002udp.2_Intron	p.Y1947H	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	6180	-			1958					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5839T>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985734	0.74589	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97161	-4.24;-4.26;-4.26;-4.27	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000031	D	0.98201	0.9405	M	0.84082	2.675	0.58432	D	0.999992	D	0.58620	0.983	P	0.59948	0.866	D	0.99038	1.0823	10	0.87932	D	0	.	16.2526	0.82494	1.0:0.0:0.0:0.0	.	1947	E7EUN6	.	H	1947;1959;1959;1958	ENSP00000386306:Y1947H;ENSP00000364536:Y1959H;ENSP00000304748:Y1959H;ENSP00000386330:Y1958H	ENSP00000304748:Y1959H	Y	-	1	0	SCN9A	166763523	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.287000	0.95975	2.241000	0.73720	0.482000	0.46254	TAT		0.358	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		3	17	0	0	0	0	3	17				
FARSB	10056	broad.mit.edu	37	2	223497951	223497951	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:223497951C>A	ENST00000281828.6	-	7	945	c.682G>T	c.(682-684)Ggt>Tgt	p.G228C	FARSB_ENST00000536361.1_Missense_Mutation_p.G129C	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	228					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	AGGACGACACCATTGCTATCA	0.333																																						uc002vne.1		NA																	0				ovary(1)	1						c.(682-684)GGT>TGT		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						123.0	121.0	122.0					2																	223497951		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223497951C>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.682G>T	2.37:g.223497951C>A	ENSP00000281828:p.Gly228Cys					FARSB_uc010zlq.1_Missense_Mutation_p.G248C|FARSB_uc002vnf.1_Missense_Mutation_p.G129C	p.G228C	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	7	717	-		Renal(207;0.0183)	228					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.682G>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455958	0.84209	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.30714	1.52;1.52	5.29	5.29	0.74685	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.090818	0.85682	D	0.000000	T	0.69824	0.3154	H	0.96460	3.825	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.73708	0.969;0.981	T	0.80320	-0.1432	10	0.72032	D	0.01	-7.8931	19.332	0.94295	0.0:1.0:0.0:0.0	.	228;228	A8K666;Q9NSD9	.;SYFB_HUMAN	C	228;129	ENSP00000281828:G228C;ENSP00000442950:G129C	ENSP00000281828:G228C	G	-	1	0	FARSB	223206195	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	5.588000	0.67517	2.649000	0.89929	0.478000	0.44815	GGT		0.333	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		32	83	1	0	9.63e-15	1.15e-14	32	83				
ARMC9	80210	broad.mit.edu	37	2	232209757	232209757	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:232209757T>A	ENST00000349938.4	+	21	2143	c.1949T>A	c.(1948-1950)cTg>cAg	p.L650Q	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	650						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GATGAGCCCCTGCAAAGGCCC	0.547																																						uc002vrq.3		NA																	0				ovary(1)	1						c.(1948-1950)CTG>CAG		armadillo repeat containing 9							53.0	57.0	56.0					2																	232209757		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232209757T>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1949T>A	2.37:g.232209757T>A	ENSP00000258417:p.Leu650Gln					ARMC9_uc002vrp.3_Missense_Mutation_p.L650Q|ARMC9_uc002vrr.1_RNA	p.L650Q	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	21	2061	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	650					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1949T>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845111	0.51164	.	.	ENSG00000135931	ENST00000349938;ENST00000359743	T	0.28454	1.61	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.40423	0.1116	L	0.27053	0.805	0.51012	D	0.999906	D	0.89917	1.0	D	0.74348	0.983	T	0.34527	-0.9825	10	0.87932	D	0	-13.0504	11.4253	0.50007	0.0:0.0:0.0:1.0	.	650	Q7Z3E5	ARMC9_HUMAN	Q	650	ENSP00000258417:L650Q	ENSP00000258417:L650Q	L	+	2	0	ARMC9	231918001	1.000000	0.71417	0.994000	0.49952	0.119000	0.20118	4.115000	0.57865	2.010000	0.58986	0.460000	0.39030	CTG		0.547	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		33	52	0	0	0	0	33	52				
CSNK2A1	1457	broad.mit.edu	37	20	468128	468128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:468128G>A	ENST00000217244.3	-	12	1291	c.916C>T	c.(916-918)Cga>Tga	p.R306*	CSNK2A1_ENST00000400217.2_Nonsense_Mutation_p.R170*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R306*|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R306*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGGTCATATCGCAGCAGTTTG	0.527																																						uc002wdw.1		NA																	0				ovary(1)	1						c.(916-918)CGA>TGA		casein kinase II alpha 1 subunit isoform a							134.0	115.0	121.0					20																	468128		2203	4300	6503	SO:0001587	stop_gained	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:468128G>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.916C>T	20.37:g.468128G>A	ENSP00000217244:p.Arg306*					CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.R306*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.R170*	p.R306*	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		12	1309	-		Breast(17;0.231)	306			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Nonsense_Mutation	SNP	ENST00000217244.3	37	c.916C>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	41	8.918237	0.99002	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6853	17.9724	0.89117	0.0:0.0:1.0:0.0	.	.	.	.	X	306;306;306;306;170	.	ENSP00000217244:R306X	R	-	1	2	CSNK2A1	416128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.317000	0.72862	2.713000	0.92767	0.585000	0.79938	CGA		0.527	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		39	68	0	0	0	0	39	68				
ISM1	140862	broad.mit.edu	37	20	13279750	13279750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:13279750C>T	ENST00000262487.4	+	6	1045	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	347	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAAGGACTTCCGCTGGAAGGA	0.627																																						uc010gce.1		NA																	0					0						c.(1039-1041)CGC>TGC		isthmin 1 homolog precursor							42.0	48.0	46.0					20																	13279750		2129	4233	6362	SO:0001583	missense	140862					extracellular region		g.chr20:13279750C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1039C>T	20.37:g.13279750C>T	ENSP00000262487:p.Arg347Cys					TASP1_uc010zri.1_Intron	p.R347C	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			6	1045	+			347			AMOP.		Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.1039C>T	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579636	0.86645	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.55413	0.52;0.54	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70436	-0.4872	10	0.87932	D	0	-10.5871	20.2133	0.98290	0.0:1.0:0.0:0.0	.	347	B1AKI9	ISM1_HUMAN	C	347;301	ENSP00000262487:R347C;ENSP00000409938:R301C	ENSP00000262487:R347C	R	+	1	0	ISM1	13227750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.782000	0.85680	2.786000	0.95864	0.655000	0.94253	CGC		0.627	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			4	26	0	0	0	0	4	26				
VSX1	30813	broad.mit.edu	37	20	25057052	25057052	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:25057052C>A	ENST00000376709.4	-	5	1206	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	315					neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCAGGGCTCACTTTATCTGAG	0.547																																						uc002wuf.2		NA																	0					0						c.(943-945)GTG>TTG		visual system homeobox 1 isoform a							98.0	99.0	99.0					20																	25057052		2203	4300	6503	SO:0001583	missense	30813				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:25057052C>A	AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.943G>T	20.37:g.25057052C>A	ENSP00000365899:p.Val315Leu					VSX1_uc002wue.2_Intron|VSX1_uc010gdd.1_Intron|VSX1_uc010gde.1_Intron|VSX1_uc010gdf.1_Intron	p.V315L	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN			5	978	-			315					B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Missense_Mutation	SNP	ENST00000376709.4	37	c.943G>T	CCDS13168.1	.	.	.	.	.	.	.	.	.	.	C	2.955	-0.215803	0.06101	.	.	ENSG00000100987	ENST00000376709	D	0.91237	-2.81	3.94	0.727	0.18254	.	2.303120	0.01479	N	0.016599	T	0.76579	0.4007	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.69206	-0.5206	10	0.11485	T	0.65	.	4.0918	0.09973	0.0:0.504:0.176:0.32	.	315	Q9NZR4	VSX1_HUMAN	L	315	ENSP00000365899:V315L	ENSP00000365899:V315L	V	-	1	0	VSX1	25005052	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.145000	0.10265	0.306000	0.22856	0.655000	0.94253	GTG		0.547	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3			37	53	1	0	5.73e-09	6.52e-09	37	53				
PHF20	51230	broad.mit.edu	37	20	34389470	34389470	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:34389470G>T	ENST00000374012.3	+	2	155	c.26G>T	c.(25-27)cGa>cTa	p.R9L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.R9L			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	9	Tudor 1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCTAACAGACGAGGAATCAGC	0.408																																						uc002xek.1		NA																	0				ovary(1)	1						c.(25-27)CGA>CTA		PHD finger protein 20							71.0	69.0	70.0					20																	34389470		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34389470G>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.26G>T	20.37:g.34389470G>T	ENSP00000363124:p.Arg9Leu					PHF20_uc002xei.1_Missense_Mutation_p.R9L|PHF20_uc010gfo.1_Missense_Mutation_p.R9L|PHF20_uc002xej.1_5'UTR|PHF20_uc002xeh.2_RNA	p.R9L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			2	137	+	Breast(12;0.00631)|all_lung(11;0.0145)		9					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.26G>T	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105507	0.94245	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000	T;T;T;T	0.49720	1.4;0.77;0.77;0.77	5.73	5.73	0.89815	.	0.060624	0.64402	D	0.000004	T	0.60932	0.2307	L	0.39020	1.185	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.57573	-0.7788	10	0.42905	T	0.14	.	18.6732	0.91519	0.0:0.0:1.0:0.0	.	9	Q9BVI0	PHF20_HUMAN	L	9	ENSP00000363124:R9L;ENSP00000410373:R9L;ENSP00000341900:R9L;ENSP00000363112:R9L	ENSP00000341900:R9L	R	+	2	0	PHF20	33852884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.187000	0.72039	2.707000	0.92482	0.561000	0.74099	CGA		0.408	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		15	37	1	0	1.57e-10	1.82e-10	15	37				
PTPRT	11122	broad.mit.edu	37	20	40730876	40730876	+	Missense_Mutation	SNP	C	C	A	rs372862828		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:40730876C>A	ENST00000373187.1	-	26	3601	c.3602G>T	c.(3601-3603)cGg>cTg	p.R1201L	PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200L|PTPRT_ENST00000373198.4_Missense_Mutation_p.R1220L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1201	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCATGGTTCCGGGGCAGGAG	0.557																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(3601-3603)CGG>CTG		protein tyrosine phosphatase, receptor type, T							73.0	77.0	76.0					20																	40730876		2128	4254	6382	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40730876C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3602G>T	20.37:g.40730876C>A	ENSP00000362283:p.Arg1201Leu					PTPRT_uc010ggj.2_Missense_Mutation_p.R1220L|PTPRT_uc010ggi.2_Missense_Mutation_p.R404L	p.R1201L	NM_007050	NP_008981	O14522	PTPRT_HUMAN			26	3786	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1201			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3602G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421393	0.96111	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	M	0.73319	2.225	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	T	0.16778	-1.0391	10	0.87932	D	0	.	19.354	0.94404	0.0:1.0:0.0:0.0	.	1223;1201	O14522-1;O14522	.;PTPRT_HUMAN	L	1200;1201;1204;1210;1223;1211;1191	ENSP00000362286:R1200L;ENSP00000362283:R1201L;ENSP00000362289:R1204L;ENSP00000348408:R1210L;ENSP00000362294:R1223L;ENSP00000362280:R1211L;ENSP00000362297:R1191L	ENSP00000348408:R1210L	R	-	2	0	PTPRT	40164290	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.588000	0.87417	0.650000	0.86243	CGG		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			20	29	1	0	2.46e-09	2.81e-09	20	29				
SRSF6	6431	broad.mit.edu	37	20	42088474	42088474	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:42088474G>C	ENST00000244020.3	+	3	426	c.320G>C	c.(319-321)cGt>cCt	p.R107P		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	107					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCACCTGTTCGTACAGAATAC	0.393																																						uc010zwg.1		NA																	0					0						c.(319-321)CGT>CCT		arginine/serine-rich splicing factor 6							153.0	139.0	144.0					20																	42088474		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088474G>C	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.320G>C	20.37:g.42088474G>C	ENSP00000244020:p.Arg107Pro					SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.R107P	p.R107P	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		3	490	+		Myeloproliferative disorder(115;0.00452)	107					B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.320G>C	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487741	0.64074	.	.	ENSG00000124193	ENST00000244020	T	0.14766	2.48	5.85	4.9	0.64082	Nucleotide-binding, alpha-beta plait (1);	0.045600	0.85682	D	0.000000	T	0.45816	0.1361	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.58880	-0.7558	10	0.87932	D	0	.	15.9483	0.79809	0.0:0.1356:0.8644:0.0	.	107;107	Q13247;A8K588	SRSF6_HUMAN;.	P	107	ENSP00000244020:R107P	ENSP00000244020:R107P	R	+	2	0	SRSF6	41521888	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.362000	0.97126	1.470000	0.48102	0.585000	0.79938	CGT		0.393	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		38	58	0	0	0	0	38	58				
DGCR14	8220	broad.mit.edu	37	22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	rs111488352	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582													G|||	7	0.00139776	0.0008	0.0	5008	,	,		18280	0.0		0.006	False		,,,				2504	0.0					uc002zou.2		NA																	0				ovary(1)	1						c.(295-297)CCG>CTG		DiGeorge syndrome critical region protein 14		G	LEU/PRO	11,4395	17.9+/-39.9	0,11,2192	75.0	78.0	77.0		296	3.2	0.6	22	dbSNP_132	77	93,8507	51.1+/-111.2	1,91,4208	yes	missense	DGCR14	NM_022719.2	98	1,102,6400	AA,AG,GG		1.0814,0.2497,0.7996	benign	99/477	19130247	104,12902	2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19130247G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.296C>T	22.37:g.19130247G>A	ENSP00000252137:p.Pro99Leu					DGCR14_uc002zot.2_Missense_Mutation_p.P20L|DGCR14_uc002zov.2_RNA	p.P99L	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN			2	333	-	Colorectal(54;0.0993)		99					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.296C>T	CCDS13756.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	14.50	2.553078	0.45487	0.002497	0.010814	ENSG00000100056	ENST00000252137	T	0.23348	1.91	4.18	3.16	0.36331	.	0.390425	0.28883	N	0.013829	T	0.11922	0.0290	L	0.45051	1.395	0.26408	N	0.976302	P	0.48998	0.918	B	0.33521	0.165	T	0.10965	-1.0607	10	0.26408	T	0.33	-8.5837	11.7907	0.52068	0.0875:0.0:0.9125:0.0	.	99	Q96DF8	DGC14_HUMAN	L	99	ENSP00000252137:P99L	ENSP00000252137:P99L	P	-	2	0	DGCR14	17510247	0.993000	0.37304	0.569000	0.28460	0.522000	0.34438	2.879000	0.48522	0.985000	0.38656	-0.150000	0.13652	CCG		0.582	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			5	112	0	0	0	0	5	112				
MN1	4330	broad.mit.edu	37	22	28193502	28193502	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:28193502C>G	ENST00000302326.4	-	1	3984	c.3030G>C	c.(3028-3030)tgG>tgC	p.W1010C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1010					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCCCCTTCCCCCAGGATGGCG	0.692			T	ETV6	"""AML, meningioma"""																																	uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3028-3030)TGG>TGC		meningioma  1							32.0	36.0	35.0					22																	28193502		2004	4151	6155	SO:0001583	missense	4330						binding	g.chr22:28193502C>G	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3030G>C	22.37:g.28193502C>G	ENSP00000304956:p.Trp1010Cys						p.W1010C	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	3985	-			1010					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.3030G>C	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696885	0.48202	.	.	ENSG00000169184	ENST00000302326	T	0.56103	0.48	4.1	4.1	0.47936	.	0.000000	0.64402	D	0.000001	T	0.58892	0.2154	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.62101	-0.6925	10	0.49607	T	0.09	-7.5888	15.0915	0.72198	0.0:1.0:0.0:0.0	.	1010	Q10571	MN1_HUMAN	C	1010	ENSP00000304956:W1010C	ENSP00000304956:W1010C	W	-	3	0	MN1	26523502	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	6.564000	0.73969	2.105000	0.64084	0.462000	0.41574	TGG		0.692	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		21	42	0	0	0	0	21	42				
OSBP2	23762	broad.mit.edu	37	22	31286872	31286872	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:31286872G>A	ENST00000332585.6	+	8	1885	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	OSBP2_ENST00000382310.3_Missense_Mutation_p.R545H|OSBP2_ENST00000407373.1_Missense_Mutation_p.R421H|OSBP2_ENST00000437268.2_Missense_Mutation_p.R336H|OSBP2_ENST00000403222.3_Missense_Mutation_p.R428H|OSBP2_ENST00000535268.1_Missense_Mutation_p.R138H|OSBP2_ENST00000401475.1_Missense_Mutation_p.R227H|OSBP2_ENST00000446658.2_Missense_Mutation_p.R593H	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	594					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACAGTGCACCGCATCGCCAAG	0.642											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003aiy.1		NA																	0				breast(1)|skin(1)	2						c.(1780-1782)CGC>CAC		oxysterol binding protein 2 isoform a							75.0	84.0	81.0					22																	31286872		2175	4281	6456	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31286872G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1781G>A	22.37:g.31286872G>A	ENSP00000332576:p.Arg594His		OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	OSBP2_uc011ala.1_Missense_Mutation_p.R428H|OSBP2_uc010gwc.1_Missense_Mutation_p.R421H|OSBP2_uc011alb.1_Missense_Mutation_p.R545H|OSBP2_uc003aiz.1_Missense_Mutation_p.R593H|OSBP2_uc003aja.1_Missense_Mutation_p.R227H|OSBP2_uc011alc.1_Missense_Mutation_p.R336H|OSBP2_uc003ajb.2_Missense_Mutation_p.R139H|OSBP2_uc011ald.1_Missense_Mutation_p.R138H|OSBP2_uc010gwd.1_Missense_Mutation_p.R139H	p.R594H	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			8	1885	+			594					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.1781G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.366651|5.366651	0.95900|0.95900	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000453621;ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T;T;T	.|0.39406	.|1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78451|0.78451	0.4285|0.4285	H|H	0.98111|0.98111	4.15|4.15	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	D|D	0.86989|0.86989	0.2109|0.2109	5|10	.|0.87932	.|D	.|0	-30.2419|-30.2419	18.0171|18.0171	0.89245|0.89245	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|336;545;428;336;421;593;594	.|F5H2A3;B4DFA8;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;.;OSBP2_HUMAN	T|H	265;266|428;421;594;545;593;227;336;138;225	.|ENSP00000384213:R428H;ENSP00000385237:R421H;ENSP00000332576:R594H;ENSP00000371747:R545H;ENSP00000392080:R593H;ENSP00000385254:R227H;ENSP00000389200:R336H;ENSP00000438713:R138H;ENSP00000409838:R225H	.|ENSP00000332576:R594H	A|R	+|+	1|2	0|0	OSBP2|OSBP2	29616872|29616872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.595000|9.595000	0.98260|0.98260	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.642	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		23	36	0	0	0	0	23	36				
CSF2RB	1439	broad.mit.edu	37	22	37322077	37322077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:37322077G>A	ENST00000403662.3	+	4	471	c.249G>A	c.(247-249)tgG>tgA	p.W83*	CSF2RB_ENST00000262825.5_Nonsense_Mutation_p.W83*|CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.W83*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.W24*			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	83					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACATGCCCTGGTCAGCCTGCC	0.572																																						uc003aqa.3		NA																	0				skin(2)|pancreas(1)	3						c.(247-249)TGG>TGA		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						126.0	92.0	103.0					22																	37322077		2203	4300	6503	SO:0001587	stop_gained	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37322077G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.249G>A	22.37:g.37322077G>A	ENSP00000384053:p.Trp83*					CSF2RB_uc003aqc.3_Nonsense_Mutation_p.W83*	p.W83*	NM_000395	NP_000386	P32927	IL3RB_HUMAN			4	466	+			83			Extracellular (Potential).		Q5JZI1|Q6ICE0	Nonsense_Mutation	SNP	ENST00000403662.3	37	c.249G>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416397	0.62511	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	.	.	.	5.26	3.03	0.35002	.	0.998910	0.08099	N	0.998117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5117	6.8958	0.24255	0.0943:0.1761:0.7296:0.0	.	.	.	.	X	83;83;83;83;3;24	.	ENSP00000262825:W83X	W	+	3	0	CSF2RB	35652023	0.017000	0.18338	0.007000	0.13788	0.029000	0.11900	1.262000	0.32992	1.350000	0.45770	0.561000	0.74099	TGG		0.572	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		11	36	0	0	0	0	11	36				
CYTH4	27128	broad.mit.edu	37	22	37695300	37695300	+	Silent	SNP	C	C	T	rs527608462		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:37695300C>T	ENST00000248901.6	+	6	574	c.387C>T	c.(385-387)ttC>ttT	p.F129F	CYTH4_ENST00000402997.1_Silent_p.F129F|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000405206.3_Silent_p.F129F	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	129	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCCAGGCCTTCGTGGACTGCC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16413	0.0		0.0	False		,,,				2504	0.001					uc003arf.2		NA																	0				ovary(2)	2						c.(385-387)TTC>TTT		cytohesin 4							52.0	48.0	49.0					22																	37695300		2203	4300	6503	SO:0001819	synonymous_variant	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37695300C>T	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.387C>T	22.37:g.37695300C>T						CYTH4_uc003are.2_Silent_p.F129F|CYTH4_uc011amw.1_Silent_p.F72F|CYTH4_uc010gxe.2_Intron	p.F129F	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			6	503	+			129			SEC7.		Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	c.387C>T	CCDS13946.1																																																																																				0.657	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			10	22	0	0	0	0	10	22				
DESI1	27351	broad.mit.edu	37	22	42000099	42000099	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:42000099G>C	ENST00000263256.6	-	4	495	c.239C>G	c.(238-240)aCa>aGa	p.T80R	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	80	PPPDE peptidase.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)										GATTTCTTCTGTGACTTCTGT	0.527																																						uc003ban.1		NA																	0					0						c.(238-240)ACA>AGA		PPPDE peptidase domain containing 2							99.0	99.0	99.0					22																	42000099		2203	4300	6503	SO:0001583	missense	27351							g.chr22:42000099G>C	AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"""family with sequence similarity 152, member B"", ""PPPDE peptidase domain containing 2"""	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.239C>G	22.37:g.42000099G>C	ENSP00000263256:p.Thr80Arg					PPPDE2_uc011apb.1_RNA	p.T80R	NM_015704	NP_056519	Q6ICB0	PPDE2_HUMAN			4	312	-			80			PPPDE peptidase.			Missense_Mutation	SNP	ENST00000263256.6	37	c.239C>G	CCDS33652.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143006	0.94560	.	.	ENSG00000100418	ENST00000263256	.	.	.	5.74	5.74	0.90152	Domain of unknown function DUF862, eukaryotic (1);	0.090336	0.85682	D	0.000000	T	0.70185	0.3195	M	0.71581	2.175	0.80722	D	1	P	0.42556	0.783	P	0.45753	0.492	T	0.68685	-0.5343	9	0.40728	T	0.16	-26.2277	20.3473	0.98799	0.0:0.0:1.0:0.0	.	80	Q6ICB0	PPDE2_HUMAN	R	80	.	ENSP00000263256:T80R	T	-	2	0	PPPDE2	40330045	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.890000	0.99128	0.650000	0.86243	ACA		0.527	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000104124.3	NM_015704		24	79	0	0	0	0	24	79				
PLXNB1	5364	broad.mit.edu	37	3	48451945	48451945	+	Silent	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:48451945C>A	ENST00000358536.4	-	30	5708	c.5439G>T	c.(5437-5439)ggG>ggT	p.G1813G	PLXNB1_ENST00000448774.2_Silent_p.G424G|PLXNB1_ENST00000358459.4_Silent_p.G1630G|PLXNB1_ENST00000296440.6_Silent_p.G1813G|PLXNB1_ENST00000456774.1_Silent_p.G1630G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1813					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAATGAGGTGCCCGGCCACCC	0.597																																						uc003csw.2		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5437-5439)GGG>GGT		plexin B1 precursor							58.0	59.0	59.0					3																	48451945		2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48451945C>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5439G>T	3.37:g.48451945C>A						PLXNB1_uc003cst.2_Silent_p.G263G|PLXNB1_uc003csu.2_Silent_p.G1630G|PLXNB1_uc003csx.2_Silent_p.G1813G	p.G1813G	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	30	5709	-			1813			Cytoplasmic (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.5439G>T	CCDS2765.1																																																																																				0.597	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		18	21	1	0	4.97e-08	5.51e-08	18	21				
SHISA5	51246	broad.mit.edu	37	3	48510918	48510918	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:48510918G>T	ENST00000296444.2	-	5	821	c.485C>A	c.(484-486)cCt>cAt	p.P162H	SHISA5_ENST00000442747.1_Missense_Mutation_p.P131H|SHISA5_ENST00000444115.1_Missense_Mutation_p.P131H|SHISA5_ENST00000443308.2_Missense_Mutation_p.P155H|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000426002.1_Missense_Mutation_p.P59H	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	162	Pro-rich.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						CACACTTGGAGGCTGAGGATA	0.607																																						uc003ctp.1		NA																	0					0						c.(484-486)CCT>CAT		scotin precursor							111.0	103.0	106.0					3																	48510918		2203	4300	6503	SO:0001583	missense	51246				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	g.chr3:48510918G>T	AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.485C>A	3.37:g.48510918G>T	ENSP00000296444:p.Pro162His					SHISA5_uc003ctn.1_Silent_p.A30A|SHISA5_uc003ctm.1_Missense_Mutation_p.P59H|SHISA5_uc011bbk.1_Silent_p.A70A|SHISA5_uc003cto.1_Missense_Mutation_p.P131H|SHISA5_uc003ctq.1_Missense_Mutation_p.P155H|SHISA5_uc003ctr.1_Missense_Mutation_p.P131H|SHISA5_uc003cts.1_Missense_Mutation_p.P131H|SHISA5_uc003ctt.2_Missense_Mutation_p.P59H|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Missense_Mutation_p.P60H	p.P162H	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN			5	619	-			162			Cytoplasmic (Potential).|Pro-rich.		B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Missense_Mutation	SNP	ENST00000296444.2	37	c.485C>A	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828767	0.71258	.	.	ENSG00000164054	ENST00000296444;ENST00000444115;ENST00000426002;ENST00000442747;ENST00000443308	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.93	3.91	0.45181	.	0.357059	0.23433	N	0.048228	T	0.52517	0.1739	L	0.54323	1.7	0.29443	N	0.85904	P;D;D;P	0.67145	0.956;0.995;0.996;0.514	P;P;D;B	0.64321	0.505;0.875;0.924;0.424	T	0.47649	-0.9101	10	0.49607	T	0.09	-4.3695	9.2324	0.37446	0.0:0.0:0.7298:0.2702	.	59;155;162;59	Q8N114-4;F8W9N8;Q8N114;Q8N114-3	.;.;SHSA5_HUMAN;.	H	162;131;59;131;155	ENSP00000296444:P162H;ENSP00000407957:P131H;ENSP00000390388:P59H;ENSP00000408223:P131H;ENSP00000395373:P155H	ENSP00000296444:P162H	P	-	2	0	SHISA5	48485922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.483000	0.45233	2.435000	0.82474	0.563000	0.77884	CCT		0.607	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479		13	20	1	0	2.27e-07	2.49e-07	13	20				
RNF123	63891	broad.mit.edu	37	3	49742142	49742142	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:49742142A>G	ENST00000327697.6	+	22	2056	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	RNF123_ENST00000432042.1_Missense_Mutation_p.M492V	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	638					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTCAACCGCCATGGATGACCT	0.587																																						uc003cxh.2		NA																	0				kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(1912-1914)ATG>GTG		ring finger protein 123							43.0	36.0	38.0					3																	49742142		2202	4300	6502	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49742142A>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1912A>G	3.37:g.49742142A>G	ENSP00000328287:p.Met638Val					RNF123_uc010hky.1_Missense_Mutation_p.M300V|RNF123_uc003cxi.2_RNA	p.M638V	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	22	1998	+			638					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.1912A>G	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999191	0.54147	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.76316	-0.63;-1.01	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	N	0.19112	0.55	0.80722	D	1	P;P	0.40332	0.713;0.713	P;P	0.54815	0.761;0.761	T	0.69745	-0.5062	10	0.14252	T	0.57	-29.5406	13.6626	0.62376	1.0:0.0:0.0:0.0	.	492;638	C9J266;Q5XPI4	.;RN123_HUMAN	V	638;638;492	ENSP00000328287:M638V;ENSP00000392443:M492V	ENSP00000328287:M638V	M	+	1	0	RNF123	49717146	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.972000	0.93424	1.826000	0.53198	0.459000	0.35465	ATG		0.587	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		4	6	0	0	0	0	4	6				
EPHB1	2047	broad.mit.edu	37	3	134884901	134884901	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:134884901C>T	ENST00000398015.3	+	8	2047	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	EPHB1_ENST00000493838.1_Silent_p.I120I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	559					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGTGGCCATCTCTATCGTCT	0.587																																						uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1675-1677)ATC>ATT		ephrin receptor EphB1 precursor							127.0	143.0	138.0					3																	134884901		2140	4262	6402	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134884901C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1677C>T	3.37:g.134884901C>T						EPHB1_uc003equ.2_Silent_p.I120I	p.I559I	NM_004441	NP_004432	P54762	EPHB1_HUMAN			8	1897	+			559			Helical; (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1677C>T	CCDS46921.1																																																																																				0.587	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		32	106	0	0	0	0	32	106				
ZIC1	7545	broad.mit.edu	37	3	147128258	147128258	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:147128258T>C	ENST00000282928.4	+	1	1088	c.359T>C	c.(358-360)cTc>cCc	p.L120P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	120					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAGCACAGCCTCTTTGCTGCA	0.706																																						uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(358-360)CTC>CCC		zinc finger protein of the cerebellum 1							12.0	16.0	15.0					3																	147128258		2075	4180	6255	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128258T>C	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.359T>C	3.37:g.147128258T>C	ENSP00000282928:p.Leu120Pro						p.L120P	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1078	+			120					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.359T>C	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947449	0.73672	.	.	ENSG00000152977	ENST00000282928	D	0.87179	-2.22	3.64	3.64	0.41730	.	0.000000	0.64402	D	0.000001	D	0.90263	0.6955	M	0.65498	2.005	0.80722	D	1	D	0.65815	0.995	P	0.57911	0.829	D	0.91189	0.4982	10	0.87932	D	0	.	12.4224	0.55527	0.0:0.0:0.0:1.0	.	120	Q15915	ZIC1_HUMAN	P	120	ENSP00000282928:L120P	ENSP00000282928:L120P	L	+	2	0	ZIC1	148610948	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.240000	0.78192	1.530000	0.49136	0.443000	0.29094	CTC		0.706	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		16	40	0	0	0	0	16	40				
ATP11B	23200	broad.mit.edu	37	3	182597414	182597414	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:182597414A>G	ENST00000323116.5	+	20	2643	c.2383A>G	c.(2383-2385)Atg>Gtg	p.M795V		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	795					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATGCTGTCGTATGGCTCCACT	0.353																																						uc003flb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2383-2385)ATG>GTG		ATPase, class VI, type 11B							102.0	101.0	101.0					3																	182597414		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182597414A>G	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2383A>G	3.37:g.182597414A>G	ENSP00000321195:p.Met795Val					ATP11B_uc003flc.2_Missense_Mutation_p.M379V|ATP11B_uc011bqm.1_Missense_Mutation_p.M99V|ATP11B_uc010hxf.1_5'UTR	p.M795V	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		20	2640	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		795			Cytoplasmic (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.2383A>G	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	A	9.911	1.209553	0.22289	.	.	ENSG00000058063	ENST00000323116;ENST00000482070	D;D	0.82255	-1.59;-1.59	4.78	4.78	0.61160	HAD-like domain (2);	0.037225	0.85682	D	0.000000	T	0.73329	0.3573	N	0.12611	0.24	0.80722	D	1	B;P	0.36712	0.291;0.566	B;P	0.46452	0.222;0.517	T	0.70070	-0.4973	10	0.02654	T	1	.	14.466	0.67485	1.0:0.0:0.0:0.0	.	369;795	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	V	795;30	ENSP00000321195:M795V;ENSP00000417124:M30V	ENSP00000321195:M795V	M	+	1	0	ATP11B	184080108	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.699000	0.91316	2.002000	0.58637	0.477000	0.44152	ATG		0.353	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		22	67	0	0	0	0	22	67				
CCDC50	152137	broad.mit.edu	37	3	191098615	191098615	+	Splice_Site	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:191098615A>C	ENST00000392455.3	+	8	1207		c.e8-1		CCDC50_ENST00000392456.3_Splice_Site	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TATTTTGTTTAGGAAATCGCT	0.368																																						uc003fsw.2		NA																	0					0						c.e8-2		Ymer protein short isoform							79.0	86.0	84.0					3																	191098615		2203	4299	6502	SO:0001630	splice_region_variant	152137					cytoplasm	protein binding	g.chr3:191098615A>C	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.610-1A>C	3.37:g.191098615A>C						CCDC50_uc003fsv.2_Splice_Site_p.E380_splice	p.E204_splice	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	8	1200	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)							Q86VH7	Splice_Site	SNP	ENST00000392455.3	37	c.610_splice	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941803	0.73557	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3663	0.55230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC50	192581309	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	5.592000	0.67543	2.168000	0.68352	0.533000	0.62120	.		0.368	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	Intron	11	42	0	0	0	0	11	42				
GPR125	166647	broad.mit.edu	37	4	22439976	22439976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:22439976G>A	ENST00000334304.5	-	8	1257	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.R104C|GPR125_ENST00000502482.1_Missense_Mutation_p.R330C	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	330	Ig-like.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTATTCCCACGTTTGGTCTGG	0.423																																						uc003gqm.1		NA																	0				skin(1)	1						c.(988-990)CGT>TGT		G protein-coupled receptor 125 precursor							110.0	95.0	100.0					4																	22439976		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22439976G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.988C>T	4.37:g.22439976G>A	ENSP00000334952:p.Arg330Cys					GPR125_uc010ieo.1_Missense_Mutation_p.R204C|GPR125_uc003gqn.1_Missense_Mutation_p.R104C|GPR125_uc003gqo.2_Missense_Mutation_p.R330C	p.R330C	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			8	1253	-		Breast(46;0.198)	330			Extracellular (Potential).|Ig-like.		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.988C>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614967	0.87359	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482;ENST00000514129	T;T;T;T	0.54479	0.57;0.57;0.57;1.0	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);GPCR, family 2, extracellular hormone receptor domain (1);Immunoglobulin-like fold (1);	0.100512	0.64402	D	0.000003	T	0.70272	0.3205	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.988;0.996;0.996;0.991	T	0.68277	-0.5451	10	0.48119	T	0.1	-7.4993	19.8513	0.96741	0.0:0.0:1.0:0.0	.	205;330;104;330	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	C	330;104;330;66	ENSP00000334952:R330C;ENSP00000422606:R104C;ENSP00000421006:R330C;ENSP00000425223:R66C	ENSP00000334952:R330C	R	-	1	0	GPR125	22049074	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.978000	0.70501	2.694000	0.91930	0.585000	0.79938	CGT		0.423	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			29	46	0	0	0	0	29	46				
SHROOM3	57619	broad.mit.edu	37	4	77676119	77676119	+	Missense_Mutation	SNP	C	C	T	rs368105376		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:77676119C>T	ENST00000296043.6	+	7	5436	c.4483C>T	c.(4483-4485)Cgg>Tgg	p.R1495W	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1495					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTCTGTCCTGCGGGACTCCCC	0.577																																						uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(4483-4485)CGG>TGG		shroom family member 3 protein		C	TRP/ARG	0,4406		0,0,2203	70.0	70.0	70.0		4483	4.6	0.0	4		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHROOM3	NM_020859.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1495/1997	77676119	1,13005	2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77676119C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4483C>T	4.37:g.77676119C>T	ENSP00000296043:p.Arg1495Trp					SHROOM3_uc003hkg.2_Missense_Mutation_p.R1273W	p.R1495W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	5436	+			1495					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.4483C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092915	0.20471	0.0	1.16E-4	ENSG00000138771	ENST00000296043	T	0.21031	2.03	5.4	4.57	0.56435	.	0.936044	0.08997	N	0.863509	T	0.15739	0.0379	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.21314	-1.0249	10	0.56958	D	0.05	-3.447	12.7826	0.57485	0.0:0.9246:0.0:0.0754	.	1495	Q8TF72	SHRM3_HUMAN	W	1495	ENSP00000296043:R1495W	ENSP00000296043:R1495W	R	+	1	2	SHROOM3	77895143	0.003000	0.15002	0.002000	0.10522	0.004000	0.04260	1.524000	0.35942	1.527000	0.49086	-0.216000	0.12614	CGG		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		20	55	0	0	0	0	20	55				
CENPE	1062	broad.mit.edu	37	4	104070291	104070291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:104070291C>G	ENST00000265148.3	-	27	3760	c.3671G>C	c.(3670-3672)aGa>aCa	p.R1224T	CENPE_ENST00000380026.3_Missense_Mutation_p.R1199T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1224					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCAATTTCTCTTATATATCC	0.338																																						uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.(3670-3672)AGA>ACA		centromere protein E							75.0	82.0	80.0					4																	104070291		2203	4296	6499	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104070291C>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3671G>C	4.37:g.104070291C>G	ENSP00000265148:p.Arg1224Thr					CENPE_uc003hxc.1_Missense_Mutation_p.R1199T	p.R1224T	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	27	3761	-			1224			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.3671G>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874602	0.17395	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72282	-0.64;-0.64	4.29	1.45	0.22620	.	.	.	.	.	T	0.62672	0.2447	M	0.75264	2.295	0.09310	N	1	B;P	0.40144	0.386;0.704	B;B	0.33042	0.087;0.157	T	0.54695	-0.8255	9	0.45353	T	0.12	.	5.3522	0.16042	0.0:0.472:0.0:0.528	.	1199;1224	Q02224-3;Q02224	.;CENPE_HUMAN	T	1224;1224;1199	ENSP00000265148:R1224T;ENSP00000369365:R1199T	ENSP00000265148:R1224T	R	-	2	0	CENPE	104289740	0.000000	0.05858	0.016000	0.15963	0.922000	0.55478	-0.059000	0.11731	0.487000	0.27698	-0.136000	0.14681	AGA		0.338	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				21	39	0	0	0	0	21	39				
SEC24B	10427	broad.mit.edu	37	4	110442694	110442694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:110442694G>T	ENST00000265175.5	+	14	2475	c.2420G>T	c.(2419-2421)cGt>cTt	p.R807L	SEC24B_ENST00000504968.2_Missense_Mutation_p.R837L|SEC24B_ENST00000399100.2_Missense_Mutation_p.R772L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	807					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.R807H(1)|p.R772H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACAGGTGGCCGTGTGTCTGTA	0.428																																						uc003hzk.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(2)|large_intestine(1)	3						c.(2419-2421)CGT>CTT		SEC24 (S. cerevisiae) homolog B isoform a							89.0	81.0	84.0					4																	110442694		1893	4117	6010	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110442694G>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2420G>T	4.37:g.110442694G>T	ENSP00000265175:p.Arg807Leu					SEC24B_uc003hzl.2_Missense_Mutation_p.R772L|SEC24B_uc011cfp.1_Missense_Mutation_p.R837L|SEC24B_uc011cfq.1_Missense_Mutation_p.R806L|SEC24B_uc011cfr.1_Missense_Mutation_p.R771L	p.R807L	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	14	2475	+		Hepatocellular(203;0.217)	807					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2420G>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450351	0.96205	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.79845	-1.31;-1.31;-1.31	5.91	5.91	0.95273	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.91673	0.7368	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92115	0.5699	10	0.87932	D	0	-18.4839	20.2985	0.98592	0.0:0.0:1.0:0.0	.	721;406;837;772;807	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	L	837;772;807	ENSP00000428564:R837L;ENSP00000382051:R772L;ENSP00000265175:R807L	ENSP00000265175:R807L	R	+	2	0	SEC24B	110662143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGT		0.428	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			18	21	1	0	4.97e-08	5.51e-08	18	21				
HELT	391723	broad.mit.edu	37	4	185940787	185940787	+	Intron	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:185940787C>T	ENST00000515777.1	+	3	220				HELT_ENST00000338875.4_Nonsense_Mutation_p.Q92*|HELT_ENST00000505610.1_Intron			A6NFD8	HELT_HUMAN	helt bHLH transcription factor						central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGGCGAACCTCAGGAGGCTCT	0.746																																						uc011ckq.1		NA																	0					0						c.(274-276)CAG>TAG		HES/HEY-like transcription factor							7.0	9.0	9.0					4																	185940787		2138	4226	6364	SO:0001627	intron_variant	391723						DNA binding	g.chr4:185940787C>T	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.133-114C>T	4.37:g.185940787C>T						HELT_uc011cko.1_Intron|HELT_uc003ixa.3_Intron|HELT_uc011ckp.1_5'UTR	p.Q92*	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	274	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	92			Helix-loop-helix motif.		B2RTS5|B7ZMI7|B7ZMI8	Nonsense_Mutation	SNP	ENST00000515777.1	37	c.274C>T		.	.	.	.	.	.	.	.	.	.	C	13.33	2.203710	0.38905	.	.	ENSG00000187821	ENST00000338875	.	.	.	3.33	-0.437	0.12272	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	4.8903	0.13724	0.0:0.4785:0.1504:0.3711	.	.	.	.	X	92	.	ENSP00000343464:Q92X	Q	+	1	0	HELT	186177781	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.270000	0.08584	-0.139000	0.11414	-2.118000	0.00350	CAG		0.746	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		3	13	0	0	0	0	3	13				
TIMD4	91937	broad.mit.edu	37	5	156346537	156346537	+	Silent	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr5:156346537T>A	ENST00000274532.2	-	9	1124	c.1068A>T	c.(1066-1068)ggA>ggT	p.G356G	TIMD4_ENST00000406964.1_Silent_p.G58G|TIMD4_ENST00000407087.3_Silent_p.G328G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	356						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTACTATCTCCAATGTAGT	0.423																																						uc003lwh.2		NA																	0				ovary(2)	2						c.(1066-1068)GGA>GGT		T-cell immunoglobulin and mucin domain							135.0	119.0	124.0					5																	156346537		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156346537T>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.1068A>T	5.37:g.156346537T>A						TIMD4_uc010jii.2_Silent_p.G328G|TIMD4_uc003lwg.2_Silent_p.G58G	p.G356G	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	1125	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	356			Cytoplasmic (Potential).		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.1068A>T	CCDS4332.1																																																																																				0.423	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		19	37	0	0	0	0	19	37				
OSTM1	28962	broad.mit.edu	37	6	108370556	108370556	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:108370556G>A	ENST00000193322.3	-	5	935	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	284					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		GCAATTACAGGCACTGTGTCA	0.398																																					Melanoma(162;1427 1909 3096 17430 21396)	uc003psd.2		NA																	0				central_nervous_system(1)	1						c.(850-852)CCT>TCT		osteopetrosis associated transmembrane protein 1							131.0	120.0	123.0					6																	108370556		2203	4300	6503	SO:0001583	missense	28962					integral to membrane		g.chr6:108370556G>A	AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"""CLCN7 accessory beta subunit"""	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.850C>T	6.37:g.108370556G>A	ENSP00000193322:p.Pro284Ser						p.P284S	NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)	5	936	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	284			Extracellular (Potential).		E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	ENST00000193322.3	37	c.850C>T	CCDS5062.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984498	0.53934	.	.	ENSG00000081087	ENST00000193322;ENST00000440575	T	0.46819	0.86	5.59	4.71	0.59529	.	0.045577	0.85682	N	0.000000	T	0.32941	0.0846	L	0.40543	1.245	0.58432	D	0.999999	P	0.44139	0.827	P	0.48901	0.594	T	0.07462	-1.0771	10	0.24483	T	0.36	-7.5513	13.4986	0.61440	0.0762:0.0:0.9238:0.0	.	284	Q86WC4	OSTM1_HUMAN	S	284;137	ENSP00000193322:P284S	ENSP00000193322:P284S	P	-	1	0	OSTM1	108477249	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.530000	0.81962	1.340000	0.45581	0.650000	0.86243	CCT		0.398	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028		20	119	0	0	0	0	20	119				
LACE1	246269	broad.mit.edu	37	6	108645100	108645100	+	Missense_Mutation	SNP	G	G	A	rs186208029	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:108645100G>A	ENST00000368977.4	+	2	397	c.211G>A	c.(211-213)Gtt>Att	p.V71I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	71						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGCTTTGGCCGTTTGCCATGG	0.398													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16535	0.001		0.0	False		,,,				2504	0.0					uc003psj.2		NA																	0				central_nervous_system(1)	1						c.(211-213)GTT>ATT		lactation elevated 1		G	ILE/VAL	0,4406		0,0,2203	113.0	104.0	107.0		211	1.3	1.0	6		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	LACE1	NM_145315.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	71/482	108645100	1,13005	2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108645100G>A	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.211G>A	6.37:g.108645100G>A	ENSP00000357973:p.Val71Ile						p.V71I	NM_145315	NP_660358	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	2	397	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	71					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.211G>A	CCDS5067.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.950	0.744568	0.15710	0.0	1.16E-4	ENSG00000135537	ENST00000368977;ENST00000437715	.	.	.	5.33	1.31	0.21738	.	0.569694	0.16571	N	0.208655	T	0.08582	0.0213	L	0.32530	0.975	0.27479	N	0.952636	B	0.09022	0.002	B	0.08055	0.003	T	0.29761	-1.0001	9	0.18276	T	0.48	-2.8037	1.8835	0.03233	0.2789:0.1256:0.4661:0.1294	.	71	Q8WV93	LACE1_HUMAN	I	71;38	.	ENSP00000357973:V71I	V	+	1	0	LACE1	108751793	1.000000	0.71417	0.998000	0.56505	0.416000	0.31233	1.231000	0.32624	0.220000	0.20860	0.549000	0.68633	GTT		0.398	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		118	74	0	0	0	0	118	74				
ACAT2	39	broad.mit.edu	37	6	160199796	160199796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:160199796C>T	ENST00000367048.4	+	9	2889	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	ACAT2_ENST00000541436.1_Missense_Mutation_p.R406C|SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000321394.7_3'UTR|ACAT2_ENST00000472052.1_3'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	377					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGGCAGAAGTCGTGGTGTTGC	0.478																																						uc010kjy.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1129-1131)CGT>TGT		acetyl-Coenzyme A acetyltransferase 2							125.0	119.0	121.0					6																	160199796		2203	4300	6503	SO:0001583	missense	39					mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding	g.chr6:160199796C>T	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.1129C>T	6.37:g.160199796C>T	ENSP00000356015:p.Arg377Cys					ACAT2_uc011efw.1_Missense_Mutation_p.R406C|TCP1_uc003qsr.2_3'UTR|TCP1_uc003qss.2_3'UTR|TCP1_uc010kjz.2_3'UTR|TCP1_uc003qst.2_3'UTR	p.R377C	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	9	1260	+		Breast(66;0.000776)|Ovarian(120;0.0303)	377					B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	c.1129C>T	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979920	0.34942	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	D;D	0.84146	-1.81;-1.81	5.93	5.05	0.67936	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.181085	0.48767	N	0.000168	T	0.76062	0.3935	M	0.70275	2.135	0.80722	D	1	P;B	0.34562	0.457;0.156	B;B	0.24848	0.056;0.035	T	0.80455	-0.1375	10	0.87932	D	0	-4.4586	14.067	0.64837	0.2746:0.7254:0.0:0.0	.	406;377	B7Z233;Q9BWD1	.;THIC_HUMAN	C	377;406	ENSP00000356015:R377C;ENSP00000437850:R406C	ENSP00000356015:R377C	R	+	1	0	ACAT2	160119786	0.993000	0.37304	0.868000	0.34077	0.574000	0.36063	3.627000	0.54252	1.497000	0.48584	0.555000	0.69702	CGT		0.478	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		33	108	0	0	0	0	33	108				
TNRC18	84629	broad.mit.edu	37	7	5427413	5427413	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr7:5427413G>A	ENST00000430969.1	-	5	2390	c.2042C>T	c.(2041-2043)cCt>cTt	p.P681L	TNRC18_ENST00000399537.4_Missense_Mutation_p.P681L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	681							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AATGCCCACAGGCGGGTGTCG	0.701																																						uc003soi.3		NA																	0					0						c.(2041-2043)CCT>CTT		trinucleotide repeat containing 18							23.0	28.0	26.0					7																	5427413		1937	4070	6007	SO:0001583	missense	84629						DNA binding	g.chr7:5427413G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2042C>T	7.37:g.5427413G>A	ENSP00000395538:p.Pro681Leu					TNRC18_uc010ksx.1_Missense_Mutation_p.P607L	p.P681L	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	2391	-		Ovarian(82;0.142)	681					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.2042C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	14.38	2.517442	0.44763	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.37058	1.23;1.22	4.47	4.47	0.54385	.	.	.	.	.	T	0.61476	0.2350	M	0.74647	2.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.68183	-0.5476	9	0.87932	D	0	.	17.1636	0.86809	0.0:0.0:1.0:0.0	.	681	O15417	TNC18_HUMAN	L	681;681;83	ENSP00000382452:P681L;ENSP00000395538:P681L	ENSP00000382452:P681L	P	-	2	0	TNRC18	5393939	1.000000	0.71417	0.309000	0.25155	0.960000	0.62799	9.174000	0.94824	2.016000	0.59253	0.556000	0.70494	CCT		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				20	35	0	0	0	0	20	35				
TMEM168	64418	broad.mit.edu	37	7	112424255	112424255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr7:112424255G>T	ENST00000312814.6	-	2	1186	c.626C>A	c.(625-627)gCa>gAa	p.A209E	TMEM168_ENST00000454074.1_Missense_Mutation_p.A209E	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	209						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TAACAAAACTGCAAAAATAAC	0.333																																						uc003vgn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(625-627)GCA>GAA		transmembrane protein 168							41.0	45.0	44.0					7																	112424255		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424255G>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.626C>A	7.37:g.112424255G>T	ENSP00000323068:p.Ala209Glu					TMEM168_uc010lju.2_Missense_Mutation_p.A209E|TMEM168_uc011kmr.1_Intron	p.A209E	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			2	1018	-			209			Helical; (Potential).		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.626C>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	7.551	0.662625	0.14645	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	3.07	0.35406	.	0.636677	0.17079	N	0.187880	T	0.51890	0.1701	L	0.34521	1.04	0.58432	D	0.999999	B	0.19817	0.039	B	0.24155	0.051	T	0.51084	-0.8750	9	0.66056	D	0.02	-23.3261	12.0977	0.53765	0.079:0.2773:0.6437:0.0	.	209	Q9H0V1	TM168_HUMAN	E	209	.	ENSP00000323068:A209E	A	-	2	0	TMEM168	112211491	0.950000	0.32346	0.971000	0.41717	0.920000	0.55202	2.110000	0.41873	0.782000	0.33613	0.650000	0.86243	GCA		0.333	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		11	40	1	0	6.4e-05	6.88e-05	11	40				
CTTNBP2	83992	broad.mit.edu	37	7	117351685	117351685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr7:117351685C>T	ENST00000160373.3	-	23	4989	c.4898G>A	c.(4897-4899)aGc>aAc	p.S1633N	CFTR_ENST00000608965.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1633					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGTATTACTGCTGCTGCTGCT	0.383																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(4897-4899)AGC>AAC		cortactin binding protein 2							242.0	219.0	227.0					7																	117351685		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117351685C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4898G>A	7.37:g.117351685C>T	ENSP00000160373:p.Ser1633Asn						p.S1633N	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	23	4990	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1633					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4898G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377395	0.82682	.	.	ENSG00000077063	ENST00000160373	T	0.74632	-0.86	5.87	5.87	0.94306	.	0.079738	0.85682	D	0.000000	D	0.88448	0.6439	M	0.85197	2.74	0.51767	D	0.999937	D	0.71674	0.998	D	0.77557	0.99	D	0.89034	0.3444	10	0.72032	D	0.01	-7.8111	20.2245	0.98337	0.0:1.0:0.0:0.0	.	1633	Q8WZ74	CTTB2_HUMAN	N	1633	ENSP00000160373:S1633N	ENSP00000160373:S1633N	S	-	2	0	CTTNBP2	117138921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.677000	0.68142	2.770000	0.95276	0.650000	0.86243	AGC		0.383	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		4	89	0	0	0	0	4	89				
FAM135B	51059	broad.mit.edu	37	8	139165127	139165127	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr8:139165127C>G	ENST00000395297.1	-	13	1761	c.1591G>C	c.(1591-1593)Gtg>Ctg	p.V531L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	531								p.V531L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACATCTGCCACTGGATATGTC	0.458										HNSCC(54;0.14)																												uc003yuy.2		NA																	2	Substitution - Missense(2)		endometrium(2)	ovary(7)|skin(2)	9						c.(1591-1593)GTG>CTG		hypothetical protein LOC51059							98.0	95.0	96.0					8																	139165127		1961	4150	6111	SO:0001583	missense	51059							g.chr8:139165127C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1591G>C	8.37:g.139165127C>G	ENSP00000378710:p.Val531Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.V432L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.V93L|FAM135B_uc003yvb.2_Missense_Mutation_p.V93L	p.V531L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1762	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		531					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1591G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153759	0.01700	.	.	ENSG00000147724	ENST00000395297	T	0.13778	2.56	5.45	-2.58	0.06228	.	2.453540	0.01793	N	0.032411	T	0.02455	0.0075	N	0.00289	-1.7	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35500	-0.9786	10	0.07482	T	0.82	-0.1633	1.4184	0.02306	0.1996:0.2895:0.3029:0.2079	.	531;531;531	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	L	531	ENSP00000378710:V531L	ENSP00000276737:V531L	V	-	1	0	FAM135B	139234309	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.293000	0.02770	-0.386000	0.07821	-2.241000	0.00287	GTG		0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		34	125	0	0	0	0	34	125				
INSL4	3641	broad.mit.edu	37	9	5233853	5233853	+	Silent	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:5233853A>G	ENST00000239316.4	+	2	501	c.396A>G	c.(394-396)ggA>ggG	p.G132G		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	132					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GTGACGATGGAACTTCAGTTA	0.363																																						uc003ziy.2		NA																	0					0						c.(394-396)GGA>GGG		insulin-like 4 precursor							70.0	65.0	67.0					9																	5233853		2203	4300	6503	SO:0001819	synonymous_variant	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5233853A>G		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.396A>G	9.37:g.5233853A>G							p.G132G	NM_002195	NP_002186	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	2	501	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	132					A8K678|Q5W127	Silent	SNP	ENST00000239316.4	37	c.396A>G	CCDS6459.1																																																																																				0.363	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		38	99	0	0	0	0	38	99				
ZNF510	22869	broad.mit.edu	37	9	99522150	99522150	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:99522150G>C	ENST00000375231.1	-	6	1612	c.962C>G	c.(961-963)tCa>tGa	p.S321*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.S321*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTCCACAGTTGACTTCTCAAA	0.358																																						uc004awn.1		NA																	0					0						c.(961-963)TCA>TGA		zinc finger protein 510							91.0	95.0	93.0					9																	99522150		2203	4300	6503	SO:0001587	stop_gained	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99522150G>C	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.962C>G	9.37:g.99522150G>C	ENSP00000364379:p.Ser321*					ZNF510_uc004awo.1_Nonsense_Mutation_p.S321*	p.S321*	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			6	1151	-		Acute lymphoblastic leukemia(62;0.0527)	321					Q5SZP5	Nonsense_Mutation	SNP	ENST00000375231.1	37	c.962C>G	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	g	38	7.152863	0.98099	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	.	.	.	3.33	1.79	0.24919	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	7.3067	0.26451	0.2011:0.0:0.7989:0.0	.	.	.	.	X	321	.	ENSP00000223428:S321X	S	-	2	0	ZNF510	98561971	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-2.145000	0.01295	0.552000	0.29026	0.655000	0.94253	TCA		0.358	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		24	78	0	0	0	0	24	78				
TEX10	54881	broad.mit.edu	37	9	103091488	103091488	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:103091488C>A	ENST00000374902.4	-	7	1735	c.1559G>T	c.(1558-1560)cGg>cTg	p.R520L	TEX10_ENST00000535814.1_Missense_Mutation_p.R523L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	520						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TAACAAAGTCCGAACTGGAAG	0.343																																						uc004bas.2		NA																	0				ovary(1)|skin(1)	2						c.(1558-1560)CGG>CTG		testis expressed 10 isoform 1							128.0	141.0	137.0					9																	103091488		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103091488C>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1559G>T	9.37:g.103091488C>A	ENSP00000364037:p.Arg520Leu					TEX10_uc011lvf.1_Missense_Mutation_p.R359L|TEX10_uc011lvg.1_Missense_Mutation_p.R523L	p.R520L	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	7	1774	-		Acute lymphoblastic leukemia(62;0.0527)	520					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1559G>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057913	0.93846	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235	T;T	0.71222	-0.55;-0.55	5.54	5.54	0.83059	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.985	T	0.79110	-0.1938	10	0.51188	T	0.08	-10.675	19.4909	0.95049	0.0:1.0:0.0:0.0	.	523;388;520	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	L	523;520;388;165	ENSP00000444555:R523L;ENSP00000364037:R520L	ENSP00000364037:R520L	R	-	2	0	TEX10	102131309	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.430000	0.73391	2.607000	0.88179	0.563000	0.77884	CGG		0.343	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		52	195	1	0	2.82e-22	3.47e-22	52	195				
SH2D3C	10044	broad.mit.edu	37	9	130507362	130507362	+	Silent	SNP	G	G	A	rs548003990		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:130507362G>A	ENST00000314830.8	-	7	1394	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	SH2D3C_ENST00000420366.1_Silent_p.A269A|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Silent_p.A267A|SH2D3C_ENST00000429553.1_Silent_p.A73A|SH2D3C_ENST00000373277.4_Silent_p.A270A|SH2D3C_ENST00000373276.3_Silent_p.A359A	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	427					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCAGGGGCGGCATGGACAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		14318	0.001		0.0	False		,,,				2504	0.0					uc004bsc.2		NA																	0				ovary(1)	1						c.(1279-1281)GCC>GCT		SH2 domain containing 3C isoform a							16.0	22.0	20.0					9																	130507362		2166	4244	6410	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507362G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1281C>T	9.37:g.130507362G>A						SH2D3C_uc010mxo.2_Silent_p.A267A|SH2D3C_uc004bry.2_Silent_p.A269A|SH2D3C_uc004brz.3_Silent_p.A73A|SH2D3C_uc011mak.1_Silent_p.A73A|SH2D3C_uc004bsa.2_Silent_p.A270A|SH2D3C_uc004bsb.2_Silent_p.A359A	p.A427A	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			7	1423	-			427					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.1281C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	3.370	-0.128525	0.06753	.	.	ENSG00000095370	ENST00000440630	.	.	.	5.1	-3.07	0.05363	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33111	-0.9881	4	.	.	.	-7.9224	6.3177	0.21200	0.4747:0.0:0.4046:0.1207	.	.	.	.	L	264	.	.	P	-	2	0	SH2D3C	129547183	0.003000	0.15002	0.001000	0.08648	0.598000	0.36846	-0.318000	0.08050	-0.501000	0.06605	-0.448000	0.05591	CCG		0.622	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		24	37	0	0	0	0	24	37				
CACNA1B	774	broad.mit.edu	37	9	140811748	140811748	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:140811748C>T	ENST00000371372.1	+	6	976	c.831C>T	c.(829-831)tgC>tgT	p.C277C	CACNA1B_ENST00000371355.4_Silent_p.C277C|CACNA1B_ENST00000371357.1_Silent_p.C277C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.C277C|CACNA1B_ENST00000371363.1_Silent_p.C277C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	277					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGGCTGTGCGAGGGCGACA	0.572																																						uc004cog.2		NA																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(829-831)TGC>TGT		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						92.0	105.0	101.0					9																	140811748		2099	4246	6345	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140811748C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.831C>T	9.37:g.140811748C>T							p.C277C	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	6	976	+	all_cancers(76;0.166)		277			I.|Extracellular (Potential).		B1AQK5	Silent	SNP	ENST00000371372.1	37	c.831C>T	CCDS59522.1																																																																																				0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		43	54	0	0	0	0	43	54				
CNKSR2	22866	broad.mit.edu	37	X	21534662	21534662	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chrX:21534662C>G	ENST00000379510.3	+	9	906	c.870C>G	c.(868-870)atC>atG	p.I290M	CNKSR2_ENST00000279451.4_Missense_Mutation_p.I290M|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000425654.2_Missense_Mutation_p.I290M	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	290	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGGTGTTATCTTAACTTTGA	0.433																																						uc004czx.1		NA																	0				large_intestine(1)|lung(1)	2						c.(868-870)ATC>ATG		connector enhancer of kinase suppressor of Ras							124.0	109.0	114.0					X																	21534662		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21534662C>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.870C>G	X.37:g.21534662C>G	ENSP00000368824:p.Ile290Met					CNKSR2_uc004czw.2_Missense_Mutation_p.I290M|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Missense_Mutation_p.I290M	p.I290M	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			9	906	+			290			PDZ.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.870C>G	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104907	0.56291	.	.	ENSG00000149970	ENST00000425654;ENST00000279451;ENST00000379510	T;T;T	0.26660	1.72;1.72;1.72	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.057515	0.64402	D	0.000001	T	0.36386	0.0965	N	0.22421	0.69	0.80722	D	1	D;P	0.67145	0.996;0.851	D;P	0.63381	0.914;0.796	T	0.20739	-1.0266	10	0.52906	T	0.07	-8.7485	17.8997	0.88900	0.0:1.0:0.0:0.0	.	290;290	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	M	290	ENSP00000397906:I290M;ENSP00000279451:I290M;ENSP00000368824:I290M	ENSP00000279451:I290M	I	+	3	3	CNKSR2	21444583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.721000	0.54941	2.160000	0.67779	0.594000	0.82650	ATC		0.433	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		29	15	0	0	0	0	29	15				
ATRX	546	broad.mit.edu	37	X	76776335	76776335	+	Silent	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chrX:76776335T>C	ENST00000373344.5	-	34	7345	c.7131A>G	c.(7129-7131)caA>caG	p.Q2377Q	ATRX_ENST00000395603.3_Silent_p.Q2339Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2377					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTGGCTGGCTTGTCTACTTA	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		0				haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(7129-7131)CAA>CAG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						142.0	120.0	127.0					X																	76776335		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76776335T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7131A>G	X.37:g.76776335T>C						ATRX_uc004ecq.3_Silent_p.Q2339Q|ATRX_uc004eco.3_Silent_p.Q2162Q	p.Q2377Q	NM_000489	NP_000480	P46100	ATRX_HUMAN			34	7363	-			2377					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.7131A>G	CCDS14434.1																																																																																				0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	10	0	0	0	0	17	10				
DDIT4	54541	broad.mit.edu	37	10	74034470	74034470	+	Frame_Shift_Del	DEL	G	G	-	rs200501173		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr10:74034470delG	ENST00000307365.3	+	3	424	c.223delG	c.(223-225)gggfs	p.G75fs	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	75					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.G75R(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TTACCTGGATGGGGTGTCGTT	0.587																																						uc001jsx.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(223-225)GGGfs		RTP801							130.0	126.0	127.0					10																	74034470		2203	4300	6503	SO:0001589	frameshift_variant	54541				apoptosis			g.chr10:74034470delG	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.223delG	10.37:g.74034470delG	ENSP00000307305:p.Gly75fs						p.G75fs	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN			3	425	+			75					Q9H0S3	Frame_Shift_Del	DEL	ENST00000307365.3	37	c.223delG	CCDS7315.1																																																																																				0.587	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		64	133	NA	NA	NA	NA	64	133	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578527	7578527	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:7578527delA	ENST00000269305.4	-	5	592	c.403delT	c.(403-405)tgcfs	p.C135fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C135fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135R(11)|p.0?(8)|p.C135G(6)|p.C135fs*35(4)|p.C135S(4)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.C135fs*36(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F134fs*14(1)|p.C42R(1)|p.M133fs*13(1)|p.C3R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCAGTTGGCAAAACATCTTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		49	Substitution - Missense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Complex - deletion inframe(1)	p.C135Y(49)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.M133fs*13(1)|p.C135_T140delCQLAKT(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(5)|biliary_tract(5)|breast(5)|large_intestine(4)|oesophagus(4)|lung(4)|bone(4)|upper_aerodigestive_tract(2)|urinary_tract(2)|pancreas(2)|stomach(1)|skin(1)|penis(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(403-405)TGCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	50.0	49.0					17																	7578527		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578527delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.403delT	17.37:g.7578527delA	ENSP00000269305:p.Cys135fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.C135fs|TP53_uc002gih.2_Frame_Shift_Del_p.C135fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.C3fs|TP53_uc010cng.1_Frame_Shift_Del_p.C3fs|TP53_uc002gii.1_Frame_Shift_Del_p.C3fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C135fs|TP53_uc010cni.1_Frame_Shift_Del_p.C135fs|TP53_uc002gij.2_Frame_Shift_Del_p.C135fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.C42fs|TP53_uc002gio.2_Frame_Shift_Del_p.C3fs|TP53_uc010vug.1_Frame_Shift_Del_p.C96fs	p.C135fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	597	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.403delT	CCDS11118.1																																																																																				0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	11	NA	NA	NA	NA	24	11	---	---	---	---
ME1	4199	broad.mit.edu	37	6	83937086	83937091	+	In_Frame_Del	DEL	ATTCTG	ATTCTG	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:83937086_83937091delATTCTG	ENST00000369705.3	-	11	1354_1359	c.1238_1243delCAGAAT	c.(1237-1245)gcagaatgt>ggt	p.413_415AEC>G	ME1_ENST00000541327.1_In_Frame_Del_p.247_249AEC>G|ME1_ENST00000543031.1_In_Frame_Del_p.338_340AEC>G	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	413					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TCTGCAGAACATTCTGCTTTGCTAGT	0.35																																						uc003pjy.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1237-1245)GCAGAATGT>GGT		cytosolic malic enzyme 1	NADH(DB00157)																																			SO:0001651	inframe_deletion	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83937086_83937091delATTCTG	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1238_1243delCAGAAT	6.37:g.83937086_83937091delATTCTG	ENSP00000358719:p.Ala413_Cys415delinsGly					ME1_uc011dzb.1_In_Frame_Del_p.338_340AEC>G|ME1_uc011dzc.1_In_Frame_Del_p.247_249AEC>G	p.413_415AEC>G	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	11	1344_1349	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	413_415					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	In_Frame_Del	DEL	ENST00000369705.3	37	c.1238_1243delCAGAAT	CCDS34492.1																																																																																				0.350	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			8	43	NA	NA	NA	NA	8	43	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102503431	102503432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:102503431_102503432insA	ENST00000421544.1	+	15	3028_3029	c.2538_2539insA	c.(2539-2541)aaafs	p.K847fs	GRIK2_ENST00000369138.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K798fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K771fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	847					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TATACAAATCCAAAAAAAACGC	0.351																																						uc003pqp.3		NA																	2	Deletion - Frameshift(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2536-2541)TCCAAAfs		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503431_102503432insA		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2546dupA	6.37:g.102503439_102503439dupA	ENSP00000397026:p.Lys847fs					GRIK2_uc003pqo.3_Frame_Shift_Ins_p.S846fs|GRIK2_uc010kcw.2_Frame_Shift_Ins_p.S846fs	p.S846fs	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	2787_2788	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	846_847			Cytoplasmic (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Ins	INS	ENST00000421544.1	37	c.2538_2539insA	CCDS5048.1																																																																																				0.351	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			66	140	NA	NA	NA	NA	66	140	---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117865742	117865742	+	Splice_Site	DEL	T	T	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:117865742delT	ENST00000338728.5	+	13	1615		c.e13+2		DCBLD1_ENST00000534777.1_Splice_Site|DCBLD1_ENST00000368503.4_Splice_Site|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Splice_Site			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGAAAACAGGTTGGTTGAAAA	0.403																																						uc003pxs.2		NA																	0				ovary(1)	1						c.e13+2		discoidin, CUB and LCCL domain containing 1							102.0	108.0	106.0					6																	117865742		2203	4300	6503	SO:0001630	splice_region_variant	285761				cell adhesion	integral to membrane		g.chr6:117865742delT	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1495+2T>-	6.37:g.117865742delT						GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Splice_Site_p.Q497_splice|DCBLD1_uc003pxt.1_Splice_Site_p.D154_splice	p.D499_splice	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	13	1620	+		all_cancers(87;0.171)						Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Splice_Site	DEL	ENST00000338728.5	37	c.1495_splice																																																																																					0.403	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674	Intron	13	45	NA	NA	NA	NA	13	45	---	---	---	---
ZNF251	90987	broad.mit.edu	37	8	145947838	145947839	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr8:145947838_145947839delTC	ENST00000292562.7	-	5	1481_1482	c.1206_1207delGA	c.(1204-1209)gagaaafs	p.K403fs	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	403					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACATAGGGTTTCTCTCCAGTAT	0.441																																						uc003zdv.3		NA																	0					0						c.(1204-1209)GAGAAAfs		zinc finger protein 251																																				SO:0001589	frameshift_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947838_145947839delTC	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1206_1207delGA	8.37:g.145947842_145947843delTC	ENSP00000292562:p.Lys403fs						p.E402fs	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1462_1463	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		402_403					Q2M219	Frame_Shift_Del	DEL	ENST00000292562.7	37	c.1206_1207delGA	CCDS47944.1																																																																																				0.441	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		45	214	NA	NA	NA	NA	45	214	---	---	---	---
