#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HSPG2	3339	broad.mit.edu	37	1	22207993	22207993	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:22207993C>T	ENST00000374695.3	-	14	1736	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	553	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTCACATTCACACCTGTGGGT	0.617																																							uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(1657-1659)GTG>ATG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						83.0	83.0	83.0					1																	22207993		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22207993C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1657G>A	1.37:g.22207993C>T	ENSP00000363827:p.Val553Met					HSPG2_uc009vqd.2_Missense_Mutation_p.V554M	p.V553M	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	14	1697	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	553			Laminin IV type A 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.1657G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347709	0.61183	.	.	ENSG00000142798	ENST00000374695	T	0.79141	-1.24	5.52	5.52	0.82312	Laminin B type IV (1);	0.000000	0.36066	N	0.002812	D	0.87458	0.6182	M	0.70595	2.14	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.88089	0.2812	10	0.72032	D	0.01	.	17.2856	0.87140	0.0:1.0:0.0:0.0	.	553	P98160	PGBM_HUMAN	M	553	ENSP00000363827:V553M	ENSP00000363827:V553M	V	-	1	0	HSPG2	22080580	1.000000	0.71417	0.967000	0.41034	0.029000	0.11900	7.050000	0.76620	2.747000	0.94245	0.655000	0.94253	GTG		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		33	94	0	0	0	0.004289	0	33	94				
CLCA4	22802	broad.mit.edu	37	1	87031633	87031633	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:87031633C>T	ENST00000370563.3	+	6	926	c.884C>T	c.(883-885)cCt>cTt	p.P295L	CLCA4_ENST00000263723.5_Missense_Mutation_p.P8L	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	295					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CCTCCTCCACCTGTCTTCTCA	0.403																																							uc009wcs.2		NA																	0				ovary(2)	2						c.(883-885)CCT>CTT		chloride channel accessory 4							149.0	143.0	145.0					1																	87031633		1902	4133	6035	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031633C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.884C>T	1.37:g.87031633C>T	ENSP00000359594:p.Pro295Leu					CLCA4_uc009wct.2_Missense_Mutation_p.P58L|CLCA4_uc009wcu.2_Missense_Mutation_p.P115L	p.P295L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	928	+		Lung NSC(277;0.238)	295					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.884C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817831	0.90790	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.23950	3.43;1.88	6.17	6.17	0.99709	.	0.198110	0.42821	D	0.000655	T	0.56804	0.2010	M	0.91510	3.215	0.50467	D	0.99987	D	0.89917	1.0	D	0.97110	1.0	T	0.64170	-0.6470	10	0.87932	D	0	-11.1226	18.6524	0.91435	0.0:1.0:0.0:0.0	.	295	Q14CN2	CLCA4_HUMAN	L	295;8	ENSP00000359594:P295L;ENSP00000263723:P8L	ENSP00000263723:P8L	P	+	2	0	CLCA4	86804221	0.084000	0.21492	0.415000	0.26534	0.933000	0.57130	3.944000	0.56629	2.941000	0.99782	0.655000	0.94253	CCT		0.403	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		19	46	0	0	0	0.00278	0	19	46				
DPH5	51611	broad.mit.edu	37	1	101460684	101460684	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:101460684G>T	ENST00000370109.3	-	6	624	c.512C>A	c.(511-513)tCt>tAt	p.S171Y	RP11-421L21.2_ENST00000414686.1_RNA|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.S171Y|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.S171Y	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	171					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		ATTTTCCAAAGACTGCTCCTT	0.294																																							uc001dts.2		NA																	0					0						c.(511-513)TCT>TAT		diphthine synthase isoform a							65.0	63.0	64.0					1																	101460684		1793	4070	5863	SO:0001583	missense	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101460684G>T	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.512C>A	1.37:g.101460684G>T	ENSP00000359127:p.Ser171Tyr					DPH5_uc001dtr.2_Missense_Mutation_p.S171Y|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Missense_Mutation_p.S171Y|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Missense_Mutation_p.S171Y|DPH5_uc001dty.2_Missense_Mutation_p.S50Y|DPH5_uc001dtz.2_RNA	p.S171Y	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	6	659	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	171					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.512C>A	CCDS41358.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881429	0.72294	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000342173;ENST00000488176	.	.	.	5.65	5.65	0.86999	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (2);	0.097082	0.64402	D	0.000001	D	0.84497	0.5485	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.992;0.995	D	0.87338	0.2329	9	0.87932	D	0	-16.2033	19.3023	0.94148	0.0:0.0:1.0:0.0	.	183;171;171	Q9H2P9-5;Q9H2P9;A8JZY6	.;DPH5_HUMAN;.	Y	171;170;120;171;171	.	ENSP00000339630:S171Y	S	-	2	0	DPH5	101233272	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.060000	0.64312	2.662000	0.90505	0.591000	0.81541	TCT		0.294	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		5	19	1	0	0.00116845	0.001168	0.00127686	5	19				
POLR3C	10623	broad.mit.edu	37	1	145608468	145608468	+	Silent	SNP	G	G	A	rs201502502		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:145608468G>A	ENST00000334163.3	-	3	499	c.339C>T	c.(337-339)aaC>aaT	p.N113N	POLR3C_ENST00000369294.1_Silent_p.N113N|POLR3C_ENST00000471254.1_5'UTR|RNF115_ENST00000369291.5_5'Flank	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	113					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCAGTTTGCCGTTCAACAGAA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		22406	0.0		0.001	False		,,,				2504	0.0						uc001eoh.2		NA																	0				ovary(1)	1						c.(337-339)AAC>AAT		polymerase (RNA) III (DNA directed) polypeptide							129.0	113.0	118.0					1																	145608468		2203	4300	6503	SO:0001819	synonymous_variant	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145608468G>A	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.339C>T	1.37:g.145608468G>A						NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Silent_p.N126N|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.N113N	p.N113N	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		3	500	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		113					O15317|Q9Y3R6	Silent	SNP	ENST00000334163.3	37	c.339C>T	CCDS921.1																																																																																				0.468	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		4	125	0	0	0	0.000602	0	4	125				
FLG	2312	broad.mit.edu	37	1	152279739	152279739	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:152279739G>A	ENST00000368799.1	-	3	7658	c.7623C>T	c.(7621-7623)gcC>gcT	p.A2541A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2541	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)			CAGAGCTGTCGGCCCGAGAGG	0.582									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7621-7623)GCC>GCT		filaggrin							215.0	239.0	231.0					1																	152279739		2201	4300	6501	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.chr1:152279739G>A	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.7623C>T	1.37:g.152279739G>A							p.A2541A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7659	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2541			Ser-rich.|Filaggrin 15.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7623C>T	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	392	0	0	0	0.008291	0	8	392				
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2227-2229)TCT>GCT		filaggrin family member 2							292.0	285.0	288.0					1																	152328035		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328035A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2227T>G	1.37:g.152328035A>C	ENSP00000373370:p.Ser743Ala					uc001ezv.2_Intron	p.S743A	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2300	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		743			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2227T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.348	1.064785	0.20067	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	4.64	4.64	0.57946	.	.	.	.	.	T	0.20251	0.0487	M	0.69185	2.1	0.26074	N	0.981184	D	0.61080	0.989	P	0.57679	0.825	T	0.08932	-1.0698	9	0.14252	T	0.57	-0.8615	12.053	0.53518	1.0:0.0:0.0:0.0	.	743	Q5D862	FILA2_HUMAN	A	743	ENSP00000373370:S743A	ENSP00000373370:S743A	S	-	1	0	FLG2	150594659	0.002000	0.14202	0.081000	0.20488	0.509000	0.34042	1.013000	0.29937	1.959000	0.56917	0.496000	0.49642	TCT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	547	0	0	0	0.006214	0	9	547				
FLG2	388698	broad.mit.edu	37	1	152328059	152328059	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:152328059G>A	ENST00000388718.5	-	3	2275	c.2203C>T	c.(2203-2205)Cat>Tat	p.H735Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	735	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATCCATGTTGGCCAAAG	0.498																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2203-2205)CAT>TAT		filaggrin family member 2							322.0	315.0	317.0					1																	152328059		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328059G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2203C>T	1.37:g.152328059G>A	ENSP00000373370:p.His735Tyr					uc001ezv.2_Intron	p.H735Y	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2276	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		735			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2203C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	8.725	0.915273	0.17907	.	.	ENSG00000143520	ENST00000388718	T	0.19105	2.17	4.8	1.91	0.25777	.	.	.	.	.	T	0.02083	0.0065	N	0.16037	0.36	0.09310	N	1	B	0.32467	0.372	B	0.26416	0.069	T	0.45527	-0.9255	9	0.02654	T	1	-0.0439	6.6759	0.23093	0.3049:0.0:0.6951:0.0	.	735	Q5D862	FILA2_HUMAN	Y	735	ENSP00000373370:H735Y	ENSP00000373370:H735Y	H	-	1	0	FLG2	150594683	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.369000	0.20416	0.110000	0.17919	0.511000	0.50034	CAT		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	530	0	0	0	0.004482	0	7	530				
ADAR	103	broad.mit.edu	37	1	154561033	154561033	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:154561033T>C	ENST00000368474.4	-	10	3078	c.2879A>G	c.(2878-2880)tAt>tGt	p.Y960C	ADAR_ENST00000368471.3_Missense_Mutation_p.Y665C|ADAR_ENST00000292205.5_Missense_Mutation_p.Y1003C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	960	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGACCTGATATACAGATGGAA	0.448																																							uc001ffh.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	GRCh37	CM042283	ADAR	M		c.(2878-2880)TAT>TGT		adenosine deaminase, RNA-specific isoform a							132.0	130.0	131.0					1																	154561033		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154561033T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2879A>G	1.37:g.154561033T>C	ENSP00000357459:p.Tyr960Cys					ADAR_uc001ffj.2_Missense_Mutation_p.Y915C|ADAR_uc001ffi.2_Missense_Mutation_p.Y934C|ADAR_uc001ffk.2_Missense_Mutation_p.Y665C	p.Y960C	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	10	3079	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		960			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2879A>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665185	0.67700	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.19	5.19	0.71726	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99804	1.1037	10	0.87932	D	0	-14.885	15.2099	0.73214	0.0:0.0:0.0:1.0	.	915;934;960	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	C	1003;960;665;929	ENSP00000292205:Y1003C;ENSP00000357459:Y960C;ENSP00000357456:Y665C;ENSP00000431794:Y929C	ENSP00000292205:Y1003C	Y	-	2	0	ADAR	152827657	1.000000	0.71417	0.915000	0.36163	0.699000	0.40488	6.857000	0.75455	2.176000	0.68965	0.455000	0.32223	TAT		0.448	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		30	108	0	0	0	0.013726	0	30	108				
RUSC1	23623	broad.mit.edu	37	1	155291133	155291133	+	Intron	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:155291133C>T	ENST00000368352.5	+	2	65				RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Intron|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368347.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTCCCTTCCTCTGGGAGTAAG	0.647																																							uc001fki.2		NA																	0					0						c.(145-147)CAG>CAA		hypothetical protein LOC284618							18.0	19.0	19.0					1																	155291133		1860	4088	5948	SO:0001627	intron_variant	284618							g.chr1:155291133C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-86-346C>T	1.37:g.155291133C>T						RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_Intron|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank	p.Q49Q	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	424	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		49					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	c.147G>A	CCDS41410.1																																																																																				0.647	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			4	16	0	0	0	0.009096	0	4	16				
TNN	63923	broad.mit.edu	37	1	175066576	175066576	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:175066576G>T	ENST00000239462.4	+	8	1725	c.1612G>T	c.(1612-1614)Gtg>Ttg	p.V538L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	538	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAAACCTGGTGACTGACCG	0.502																																							uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1612-1614)GTG>TTG		tenascin N precursor							56.0	59.0	58.0					1																	175066576		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175066576G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1612G>T	1.37:g.175066576G>T	ENSP00000239462:p.Val538Leu					TNN_uc010pmx.1_Intron	p.V538L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	8	1725	+		Breast(1374;0.000962)	538			Fibronectin type-III 4.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1612G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	6.152	0.396320	0.11638	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57595	0.39	5.63	4.71	0.59529	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.263499	0.32055	N	0.006649	T	0.55752	0.1940	M	0.80508	2.5	0.25473	N	0.98781	B	0.10296	0.003	B	0.21360	0.034	T	0.48399	-0.9039	10	0.31617	T	0.26	.	14.6215	0.68588	0.0721:0.0:0.9279:0.0	.	538	Q9UQP3	TENN_HUMAN	L	538	ENSP00000239462:V538L	ENSP00000239462:V538L	V	+	1	0	TNN	173333199	0.876000	0.30132	0.996000	0.52242	0.989000	0.77384	0.590000	0.23954	2.630000	0.89119	0.655000	0.94253	GTG		0.502	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		21	37	1	0	1.10513e-12	0.014323	1.54137e-12	21	37				
SWT1	54823	broad.mit.edu	37	1	185149536	185149536	+	Missense_Mutation	SNP	C	C	T	rs369688585		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:185149536C>T	ENST00000367500.4	+	6	1145	c.980C>T	c.(979-981)cCa>cTa	p.P327L	SWT1_ENST00000367501.3_Missense_Mutation_p.P327L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	327										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTTGAAGCACCATGTTGTTCC	0.328																																							uc001grg.3		NA																	0					0						c.(979-981)CCA>CTA		hypothetical protein LOC54823		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	144.0	139.0	141.0		980,980	1.4	0.5	1		141	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SWT1	NM_001105518.1,NM_017673.6	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	327/901,327/901	185149536	1,13005	2203	4300	6503	SO:0001583	missense	54823							g.chr1:185149536C>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.980C>T	1.37:g.185149536C>T	ENSP00000356470:p.Pro327Leu					C1orf26_uc001grh.3_Missense_Mutation_p.P327L	p.P327L	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			6	1094	+			327					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.980C>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899131	0.33535	0.0	1.16E-4	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19806	2.12;2.12	5.64	1.44	0.22558	.	1.060610	0.07281	N	0.870760	T	0.20981	0.0505	M	0.67953	2.075	0.09310	N	0.999996	P	0.35077	0.483	B	0.30943	0.122	T	0.27905	-1.0060	10	0.66056	D	0.02	.	4.2165	0.10537	0.3136:0.5063:0.0:0.1802	.	327	Q5T5J6	SWT1_HUMAN	L	327	ENSP00000356471:P327L;ENSP00000356470:P327L	ENSP00000356470:P327L	P	+	2	0	SWT1	183416159	0.121000	0.22262	0.499000	0.27577	0.839000	0.47603	0.942000	0.29017	0.066000	0.16515	0.557000	0.71058	CCA		0.328	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		7	28	0	0	0	0.001984	0	7	28				
HMCN1	83872	broad.mit.edu	37	1	186106702	186106702	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:186106702G>A	ENST00000271588.4	+	88	13884	c.13655G>A	c.(13654-13656)aGg>aAg	p.R4552K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4552K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4552	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCCAAAAGAGGAGTCGTCTG	0.483																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(13654-13656)AGG>AAG		hemicentin 1 precursor							72.0	72.0	72.0					1																	186106702		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106702G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13655G>A	1.37:g.186106702G>A	ENSP00000271588:p.Arg4552Lys					HMCN1_uc001grs.1_Missense_Mutation_p.R121K	p.R4552K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			88	13884	+			4552			TSP type-1 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13655G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	36	5.615513	0.96649	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80304	-1.36;-1.36	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.92149	0.7511	M	0.91717	3.235	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.92025	0.5629	10	0.46703	T	0.11	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	4552	Q96RW7	HMCN1_HUMAN	K	4552	ENSP00000271588:R4552K;ENSP00000356462:R4552K	ENSP00000271588:R4552K	R	+	2	0	HMCN1	184373325	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.414000	0.97362	2.729000	0.93468	0.650000	0.86243	AGG		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		6	34	0	0	0	0.001168	0	6	34				
PRSS38	339501	broad.mit.edu	37	1	228005073	228005073	+	Missense_Mutation	SNP	C	C	T	rs200455452	byFrequency	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:228005073C>T	ENST00000366757.3	+	3	499	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	159	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCTGAAGACCCGCATTGTGTT	0.567													C|||	9	0.00179712	0.0	0.0	5008	,	,		19134	0.0089		0.0	False		,,,				2504	0.0						uc001hrh.2		NA																	0				ovary(1)|pancreas(1)	2						c.(475-477)CGC>TGC		marapsin 2 precursor							182.0	152.0	162.0					1																	228005073		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228005073C>T		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.475C>T	1.37:g.228005073C>T	ENSP00000355719:p.Arg159Cys						p.R159C	NM_183062	NP_898885	A1L453	PRS38_HUMAN			3	475	+			159			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.475C>T	CCDS1563.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	14.24	2.476943	0.44044	.	.	ENSG00000185888	ENST00000366757	T	0.60920	0.15	4.34	2.35	0.29111	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.935189	0.08855	N	0.883929	T	0.56187	0.1968	L	0.41236	1.265	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.46978	-0.9152	10	0.72032	D	0.01	.	6.9064	0.24311	0.1931:0.6032:0.2037:0.0	.	159	A1L453	PRS38_HUMAN	C	159	ENSP00000355719:R159C	ENSP00000355719:R159C	R	+	1	0	PRSS38	226071696	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.040000	0.13905	0.694000	0.31654	0.655000	0.94253	CGC		0.567	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		14	71	0	0	0	0.003163	0	14	71				
OR2L8	391190	broad.mit.edu	37	1	248112889	248112889	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:248112889C>A	ENST00000357191.3	+	1	730	c.730C>A	c.(730-732)Ctc>Atc	p.L244I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAGCACCCACCTCACTGTAGT	0.458																																							uc001idt.1		NA																	0				ovary(1)|skin(1)	2						c.(730-732)CTC>ATC		olfactory receptor, family 2, subfamily L,							163.0	117.0	133.0					1																	248112889		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112889C>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.730C>A	1.37:g.248112889C>A	ENSP00000349719:p.Leu244Ile					OR2L13_uc001ids.2_Intron	p.L244I	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	730	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		244			Helical; Name=6; (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.730C>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.468394	0.26335	.	.	ENSG00000196936	ENST00000357191	T	0.43294	0.95	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28376	U	0.015580	T	0.47451	0.1446	M	0.64567	1.98	0.27053	N	0.963741	P	0.50156	0.932	P	0.55087	0.768	T	0.28332	-1.0047	10	0.48119	T	0.1	.	5.6341	0.17526	0.0:0.8228:0.0:0.1772	.	244	Q8NGY9	OR2L8_HUMAN	I	244	ENSP00000349719:L244I	ENSP00000349719:L244I	L	+	1	0	OR2L8	246179512	0.004000	0.15560	0.993000	0.49108	0.282000	0.26991	-0.032000	0.12266	1.010000	0.39314	0.485000	0.47835	CTC		0.458	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			30	82	1	0	1.96642e-18	0.006999	2.93578e-18	30	82				
SFMBT2	57713	broad.mit.edu	37	10	7230597	7230597	+	Silent	SNP	C	C	T	rs367855039		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:7230597C>T	ENST00000361972.4	-	16	1887	c.1797G>A	c.(1795-1797)acG>acA	p.T599T	SFMBT2_ENST00000397167.1_Silent_p.T599T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	599					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGCCTTCAGCGTCTCTTCCT	0.443																																							uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1795-1797)ACG>ACA		Scm-like with four mbt domains 2		C	,	0,4406		0,0,2203	105.0	103.0	104.0		1797,1797	-10.7	0.0	10		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SFMBT2	NM_001018039.1,NM_001029880.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	599/895,599/895	7230597	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7230597C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1797G>A	10.37:g.7230597C>T						SFMBT2_uc001ijn.1_Silent_p.T599T|SFMBT2_uc010qay.1_Silent_p.T434T	p.T599T	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			16	1888	-			599					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1797G>A	CCDS31138.1																																																																																				0.443	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		11	31	0	0	0	0.008291	0	11	31				
CUBN	8029	broad.mit.edu	37	10	17087120	17087120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:17087120G>T	ENST00000377833.4	-	25	3623	c.3558C>A	c.(3556-3558)taC>taA	p.Y1186*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1186	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGAGCTGTGGTAATAGGGCA	0.488																																							uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3556-3558)TAC>TAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						169.0	155.0	160.0					10																	17087120		2203	4300	6503	SO:0001587	stop_gained	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17087120G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3558C>A	10.37:g.17087120G>T	ENSP00000367064:p.Tyr1186*						p.Y1186*	NM_001081	NP_001072	O60494	CUBN_HUMAN			25	3610	-			1186			CUB 7.		B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	ENST00000377833.4	37	c.3558C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	43	9.880686	0.99286	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.8	2.95	0.34219	.	0.180823	0.27031	N	0.021269	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3417	0.38085	0.3435:0.0:0.6565:0.0	.	.	.	.	X	1186	.	ENSP00000367064:Y1186X	Y	-	3	2	CUBN	17127126	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	1.882000	0.39648	0.821000	0.34540	0.563000	0.77884	TAC		0.488	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		16	49	1	0	6.49762e-13	0.006122	9.12249e-13	16	49				
PCDH15	65217	broad.mit.edu	37	10	55755437	55755437	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:55755437G>C	ENST00000320301.6	-	21	3234	c.2840C>G	c.(2839-2841)aCa>aGa	p.T947R	PCDH15_ENST00000361849.3_Missense_Mutation_p.T947R|PCDH15_ENST00000409834.1_Missense_Mutation_p.T558R|PCDH15_ENST00000373965.2_Missense_Mutation_p.T954R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.T910R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.T952R|PCDH15_ENST00000437009.1_Missense_Mutation_p.T876R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T947R|PCDH15_ENST00000373955.1_Missense_Mutation_p.T947R|PCDH15_ENST00000395438.1_Missense_Mutation_p.T947R|PCDH15_ENST00000395433.1_Missense_Mutation_p.T925R|PCDH15_ENST00000395445.1_Missense_Mutation_p.T954R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	947	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCATAAACTGTTGTGATAGG	0.388										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2839-2841)ACA>AGA		protocadherin 15 isoform CD1-4 precursor							163.0	149.0	153.0					10																	55755437		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55755437G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2840C>G	10.37:g.55755437G>C	ENSP00000322604:p.Thr947Arg	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.T952R|PCDH15_uc010qhr.1_Missense_Mutation_p.T947R|PCDH15_uc010qhs.1_Missense_Mutation_p.T959R|PCDH15_uc010qht.1_Missense_Mutation_p.T954R|PCDH15_uc010qhu.1_Missense_Mutation_p.T947R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.T947R|PCDH15_uc010qhw.1_Missense_Mutation_p.T910R|PCDH15_uc010qhx.1_Missense_Mutation_p.T876R|PCDH15_uc010qhy.1_Missense_Mutation_p.T952R|PCDH15_uc010qhz.1_Missense_Mutation_p.T947R|PCDH15_uc010qia.1_Missense_Mutation_p.T925R|PCDH15_uc010qib.1_Missense_Mutation_p.T925R|PCDH15_uc001jjw.2_Missense_Mutation_p.T947R	p.T947R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			21	3235	-		Melanoma(3;0.117)|Lung SC(717;0.238)	947			Extracellular (Potential).|Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2840C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206978	0.39003	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.60548	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.18	5.93	4.06	0.47325	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68265	0.2982	L	0.58925	1.835	0.80722	D	1	P;P;P;B;D;P;P;B;D;D;B;B;P;D	0.67145	0.924;0.924;0.924;0.213;0.996;0.924;0.924;0.149;0.988;0.98;0.238;0.384;0.891;0.979	P;P;P;B;D;P;P;B;D;P;B;B;P;D	0.69654	0.776;0.827;0.694;0.158;0.962;0.776;0.776;0.206;0.965;0.906;0.299;0.377;0.739;0.931	T	0.68349	-0.5432	9	0.46703	T	0.11	.	10.4431	0.44477	0.0695:0.0:0.7948:0.1357	.	925;947;947;952;876;910;947;947;954;954;947;952;947;947	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	954;952;947;947;558;954;910;947;925;947;947;952;876;947	ENSP00000363076:T954R;ENSP00000410304:T952R;ENSP00000378826:T947R;ENSP00000386693:T558R;ENSP00000378832:T954R;ENSP00000378820:T910R;ENSP00000354950:T947R;ENSP00000378821:T925R;ENSP00000322604:T947R;ENSP00000378818:T947R;ENSP00000412628:T876R;ENSP00000363066:T947R	ENSP00000322604:T947R	T	-	2	0	PCDH15	55425443	1.000000	0.71417	0.544000	0.28141	0.140000	0.21249	5.007000	0.63984	1.483000	0.48342	-0.181000	0.13052	ACA		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		19	69	0	0	0	0.00278	0	19	69				
TLL2	7093	broad.mit.edu	37	10	98145954	98145954	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:98145954A>T	ENST00000357947.3	-	15	2096	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	624	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CAGCTTGGTAATGAAACCGCC	0.552																																							uc001kml.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1870-1872)ATT>AAT		tolloid-like 2 precursor							73.0	77.0	76.0					10																	98145954		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98145954A>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1871T>A	10.37:g.98145954A>T	ENSP00000350630:p.Ile624Asn						p.I624N	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	15	2097	-		Colorectal(252;0.0846)	624			CUB 3.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1871T>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316196	0.81469	.	.	ENSG00000095587	ENST00000357947	T	0.32515	1.45	4.98	4.98	0.66077	CUB (5);	0.149903	0.30840	N	0.008764	T	0.51075	0.1653	M	0.73319	2.225	0.58432	D	0.999999	D	0.56746	0.977	P	0.61003	0.882	T	0.55341	-0.8156	10	0.72032	D	0.01	.	14.2922	0.66286	1.0:0.0:0.0:0.0	.	624	Q9Y6L7	TLL2_HUMAN	N	624	ENSP00000350630:I624N	ENSP00000350630:I624N	I	-	2	0	TLL2	98135944	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.087000	0.94110	2.228000	0.72767	0.477000	0.44152	ATT		0.552	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			24	86	0	0	0	0.004656	0	24	86				
MKI67	4288	broad.mit.edu	37	10	129911758	129911758	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:129911758C>A	ENST00000368654.3	-	8	1964	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.G170V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	530					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGGGCTTCTCCCCTTTTGAG	0.473																																							uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(1588-1590)GGA>GTA		antigen identified by monoclonal antibody Ki-67							199.0	181.0	187.0					10																	129911758		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129911758C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1589G>T	10.37:g.129911758C>A	ENSP00000357643:p.Gly530Val					MKI67_uc001lkf.2_Missense_Mutation_p.G170V|MKI67_uc009yav.1_Missense_Mutation_p.G105V|MKI67_uc009yaw.1_Intron	p.G530V	NM_002417	NP_002408	P46013	KI67_HUMAN			8	1784	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	530					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.1589G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530300	0.85706	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.35973	1.28;2.85	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.69881	-0.5025	10	0.87932	D	0	.	16.3392	0.83076	0.0:1.0:0.0:0.0	.	530;170;530	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	530;170;530;105	ENSP00000357643:G530V;ENSP00000357642:G170V	ENSP00000357641:G105V	G	-	2	0	MKI67	129801748	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.722000	0.61958	2.518000	0.84900	0.655000	0.94253	GGA		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		36	76	1	0	1.04594e-18	0.00623	1.58385e-18	36	76				
OR56A3	390083	broad.mit.edu	37	11	5969311	5969311	+	Nonsense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:5969311T>A	ENST00000329564.6	+	1	742	c.735T>A	c.(733-735)tgT>tgA	p.C245*		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGCACATGTGGCTCCCACT	0.517																																							uc010qzt.1		NA																	0					0						c.(733-735)TGT>TGA		olfactory receptor, family 56, subfamily A,							241.0	232.0	235.0					11																	5969311		2193	4295	6488	SO:0001587	stop_gained	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969311T>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.735T>A	11.37:g.5969311T>A	ENSP00000331572:p.Cys245*						p.C245*	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	735	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	245			Helical; Name=6; (Potential).		A6NN77|Q6IFF7	Nonsense_Mutation	SNP	ENST00000329564.6	37	c.735T>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959904	0.74016	.	.	ENSG00000184478	ENST00000329564	.	.	.	5.13	1.4	0.22301	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1235	8.7711	0.34733	0.0:0.2168:0.0:0.7832	.	.	.	.	X	245	.	ENSP00000331572:C245X	C	+	3	2	OR56A3	5925887	0.000000	0.05858	0.998000	0.56505	0.807000	0.45602	-0.869000	0.04232	0.066000	0.16515	0.529000	0.55759	TGT		0.517	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		58	151	0	0	0	0.01441	0	58	151				
TPP1	1200	broad.mit.edu	37	11	6637975	6637975	+	Missense_Mutation	SNP	C	C	G	rs141920079		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:6637975C>G	ENST00000299427.6	-	7	863	c.803G>C	c.(802-804)cGg>cCg	p.R268P	TPP1_ENST00000533371.1_Missense_Mutation_p.R25P|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	AATCCCGGCCCGGCCCCGGCC	0.577																																							uc001mel.1		NA																	0					0						c.(802-804)CGG>CCG		tripeptidyl-peptidase I preproprotein							95.0	98.0	97.0					11																	6637975		2201	4296	6497	SO:0001583	missense	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6637975C>G	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.803G>C	11.37:g.6637975C>G	ENSP00000299427:p.Arg268Pro					TPP1_uc001mek.1_Missense_Mutation_p.R25P	p.R268P	NM_000391	NP_000382	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	7	864	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	268					Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	c.803G>C	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478896	0.44044	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.98958	-5.27;-5.16	4.48	2.58	0.30949	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.204031	0.41001	D	0.000970	D	0.96087	0.8725	L	0.48362	1.52	0.80722	D	1	B	0.17852	0.024	B	0.14578	0.011	D	0.91757	0.5417	10	0.33940	T	0.23	-3.8365	8.1667	0.31230	0.0:0.7252:0.0:0.2748	.	268	O14773	TPP1_HUMAN	P	268;25	ENSP00000299427:R268P;ENSP00000437066:R25P	ENSP00000299427:R268P	R	-	2	0	TPP1	6594551	0.977000	0.34250	0.797000	0.32132	0.962000	0.63368	1.191000	0.32138	0.341000	0.23771	0.455000	0.32223	CGG		0.577	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			27	138	0	0	0	0.010818	0	27	138				
MPPED2	744	broad.mit.edu	37	11	30601847	30601848	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:30601847_30601848GC>AA	ENST00000358117.5	-	1	195_196	c.73_74GC>TT	c.(73-75)GCa>TTa	p.A25L	MPPED2_ENST00000448418.2_Missense_Mutation_p.A25L	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	25					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GTGCGTGAATGCCTGGGTGGGG	0.436																																							uc001msr.2		NA																	0				skin(1)	1						c.(73-75)GCA>TTA		metallophosphoesterase domain containing 2																																				SO:0001583	missense	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30601847_30601848GC>AA	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.73_74delinsAA	11.37:g.30601847_30601848delinsAA	ENSP00000350833:p.Ala25Leu					MPPED2_uc001msq.3_Missense_Mutation_p.A25L|MPPED2_uc009yji.2_5'UTR	p.A25L	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			1	193_194	-			25					D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	DNP	ENST00000358117.5	37	c.73_74GC>TT	CCDS7870.1																																																																																				0.436	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		30	73	0	0	0	0.004672	0	30	73				
OR5B21	219968	broad.mit.edu	37	11	58275029	58275029	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:58275029C>A	ENST00000360374.2	-	1	549	c.550G>T	c.(550-552)Gct>Tct	p.A184S		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATGAGAGAGCCAGGAGTGGG	0.473																																							uc010rki.1		NA																	0				ovary(3)	3						c.(550-552)GCT>TCT		olfactory receptor, family 5, subfamily B,							53.0	50.0	51.0					11																	58275029		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275029C>A		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.550G>T	11.37:g.58275029C>A	ENSP00000353537:p.Ala184Ser						p.A184S	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	550	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	184			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.550G>T	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	C	7.084	0.570872	0.13623	.	.	ENSG00000198283	ENST00000360374	T	0.00069	8.77	5.22	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36703	U	0.002442	T	0.00109	0.0003	L	0.31371	0.925	0.20563	N	0.999889	B	0.06786	0.001	B	0.19666	0.026	T	0.42531	-0.9446	10	0.44086	T	0.13	-8.073	0.9827	0.01440	0.1542:0.3894:0.1498:0.3067	.	184	A6NL26	OR5BL_HUMAN	S	184	ENSP00000353537:A184S	ENSP00000353537:A184S	A	-	1	0	OR5B21	58031605	0.000000	0.05858	0.254000	0.24359	0.190000	0.23558	-1.355000	0.02612	0.071000	0.16664	-0.261000	0.10672	GCT		0.473	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		10	25	1	0	9.05144e-12	0.001855	1.22223e-11	10	25				
CNTF	1270	broad.mit.edu	37	11	58391799	58391799	+	Missense_Mutation	SNP	G	G	C	rs575416876		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:58391799G>C	ENST00000361987.4	+	2	487	c.407G>C	c.(406-408)cGc>cCc	p.R136P	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	136					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGATCCCCCGCAATGAGGCT	0.483																																							uc001nna.3		NA																	0				ovary(1)	1						c.(406-408)CGC>CCC		ciliary neurotrophic factor							97.0	91.0	93.0					11																	58391799		2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58391799G>C	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.407G>C	11.37:g.58391799G>C	ENSP00000355370:p.Arg136Pro					ZFP91-CNTF_uc010rkm.1_RNA	p.R136P	NM_000614	NP_000605	P26441	CNTF_HUMAN			2	487	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	136					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.407G>C	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.901056	0.00517	.	.	ENSG00000242689	ENST00000361987	T	0.38240	1.15	5.48	2.47	0.30058	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.07728	0.0194	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	9	0.02654	T	1	-1.3469	9.0483	0.36360	0.3011:0.5574:0.1415:0.0	.	136	P26441	CNTF_HUMAN	P	136	ENSP00000355370:R136P	ENSP00000447778:R136P	R	+	2	0	CNTF	58148375	0.000000	0.05858	0.032000	0.17829	0.335000	0.28730	0.746000	0.26275	0.233000	0.21120	-0.153000	0.13522	CGC		0.483	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		13	39	0	0	0	0.001855	0	13	39				
RARRES3	5920	broad.mit.edu	37	11	63312096	63312096	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:63312096A>G	ENST00000255688.3	+	3	170	c.122A>G	c.(121-123)gAg>gGg	p.E41G	RARRES3_ENST00000439013.2_Missense_Mutation_p.E41G|RARRES3_ENST00000354445.2_Missense_Mutation_p.E41G|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	41					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						ATTGCAGGTGAGTACCCCGGG	0.547																																							uc001nxf.3		NA																	0				ovary(1)	1						c.(121-123)GAG>GGG		retinoic acid receptor responder (tazarotene							152.0	158.0	156.0					11																	63312096		1929	4122	6051	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312096A>G		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.122A>G	11.37:g.63312096A>G	ENSP00000255688:p.Glu41Gly						p.E41G	NM_004585	NP_004576	Q9UL19	TIG3_HUMAN			3	190	+			41					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.122A>G	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740245	0.30865	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.25085	1.82;1.82;1.82	4.29	-0.684	0.11331	.	0.241044	0.31747	N	0.007139	T	0.16938	0.0407	L	0.31578	0.945	0.09310	N	1	B	0.14438	0.01	B	0.20955	0.032	T	0.17653	-1.0362	10	0.51188	T	0.08	.	10.0592	0.42263	0.6807:0.0:0.3193:0.0	.	41	Q9UL19	TIG3_HUMAN	G	41	ENSP00000402943:E41G;ENSP00000255688:E41G;ENSP00000346431:E41G	ENSP00000255688:E41G	E	+	2	0	RARRES3	63068672	0.989000	0.36119	0.000000	0.03702	0.004000	0.04260	2.945000	0.49043	-0.397000	0.07691	-1.139000	0.01908	GAG		0.547	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			63	205	0	0	0	0.01441	0	63	205				
MMP7	4316	broad.mit.edu	37	11	102401431	102401431	+	Start_Codon_SNP	SNP	T	T	C	rs371574667		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:102401431T>C	ENST00000260227.4	-	1	53	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	1					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	GTGAGTCGCATAGCTGCCGTC	0.547																																							uc001phb.2		NA																	0				ovary(1)	1						c.(1-3)ATG>GTG		matrix metalloproteinase 7 preproprotein		T	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	61.0	53.0	56.0		1	2.6	0.1	11		56	0,8598		0,0,4299	no	missense	MMP7	NM_002423.3	21	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	benign	1/268	102401431	1,13003	2203	4299	6502	SO:0001582	initiator_codon_variant	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102401431T>C	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.1A>G	11.37:g.102401431T>C	ENSP00000260227:p.Met1Val					MMP7_uc009yxd.2_Missense_Mutation_p.M1V|MMP7_uc010rus.1_Missense_Mutation_p.M1V	p.M1V	NM_002423	NP_002414	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	1	48	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	1					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.1A>G	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742562	0.30865	2.27E-4	0.0	ENSG00000137673	ENST00000260227	T	0.20881	2.04	4.98	2.6	0.31112	.	0.967736	0.08521	N	0.933400	T	0.16557	0.0398	.	.	.	0.46149	D	0.998896	B;B;B	0.34372	0.02;0.451;0.005	B;B;B	0.30179	0.007;0.112;0.007	T	0.04796	-1.0926	9	0.87932	D	0	-7.1957	5.3563	0.16063	0.1543:0.0841:0.0:0.7616	.	1;1;1	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	V	1	ENSP00000260227:M1V	ENSP00000260227:M1V	M	-	1	0	MMP7	101906641	0.701000	0.27806	0.054000	0.19295	0.123000	0.20343	0.885000	0.28227	0.313000	0.23062	0.533000	0.62120	ATG		0.547	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2		Missense_Mutation	14	31	0	0	0	0.006122	0	14	31				
ATM	472	broad.mit.edu	37	11	108163369	108163369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:108163369C>A	ENST00000452508.2	+	31	4649	c.4460C>A	c.(4459-4461)tCa>tAa	p.S1487*	ATM_ENST00000278616.4_Nonsense_Mutation_p.S1487*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1487					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGGATGTGTCATTACGTAGC	0.363			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(4459-4461)TCA>TAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							242.0	226.0	232.0					11																	108163369		2201	4298	6499	SO:0001587	stop_gained	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108163369C>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4460C>A	11.37:g.108163369C>A	ENSP00000388058:p.Ser1487*	TSP Lung(14;0.12)				ATM_uc009yxr.1_Nonsense_Mutation_p.S1487*|ATM_uc001pke.1_Nonsense_Mutation_p.S139*|ATM_uc001pkf.2_Intron	p.S1487*	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	30	4845	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1487					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.4460C>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	45	11.874345	0.99612	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0666	0.59036	0.0:0.9222:0.0:0.0778	.	.	.	.	X	1487	.	ENSP00000278616:S1487X	S	+	2	0	ATM	107668579	0.998000	0.40836	0.997000	0.53966	0.981000	0.71138	4.099000	0.57755	2.462000	0.83206	0.563000	0.77884	TCA		0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		44	100	1	0	1.66251e-12	0.01441	2.28864e-12	44	100				
C2CD5	9847	broad.mit.edu	37	12	22631320	22631320	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:22631320T>A	ENST00000333957.4	-	15	2084	c.1829A>T	c.(1828-1830)cAc>cTc	p.H610L	C2CD5_ENST00000544930.1_Missense_Mutation_p.H425L|C2CD5_ENST00000542676.1_Missense_Mutation_p.H610L|C2CD5_ENST00000396028.2_Missense_Mutation_p.H601L|C2CD5_ENST00000446597.1_Missense_Mutation_p.H610L|C2CD5_ENST00000536386.1_Missense_Mutation_p.H612L|C2CD5_ENST00000545552.1_Missense_Mutation_p.H623L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	610					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ATGAGAGATGTGTTGTTCATA	0.368																																							uc001rfq.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1828-1830)CAC>CTC		hypothetical protein LOC9847							153.0	141.0	145.0					12																	22631320		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22631320T>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1829A>T	12.37:g.22631320T>A	ENSP00000334229:p.His610Leu					KIAA0528_uc010sir.1_Missense_Mutation_p.H425L|KIAA0528_uc010sis.1_Missense_Mutation_p.H610L|KIAA0528_uc010sit.1_Missense_Mutation_p.H612L|KIAA0528_uc010siu.1_Missense_Mutation_p.H610L|KIAA0528_uc001rfr.2_Missense_Mutation_p.H601L|KIAA0528_uc009ziy.1_Missense_Mutation_p.H612L	p.H610L	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			15	2057	-			610					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1829A>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.691698	0.68271	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48;3.48;3.48	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.17704	0.0425	L	0.43152	1.355	0.58432	D	0.999997	P;B;B;B;D;B	0.89917	0.916;0.179;0.323;0.11;1.0;0.026	P;B;B;B;D;B	0.85130	0.631;0.039;0.171;0.039;0.997;0.01	T	0.01848	-1.1261	10	0.31617	T	0.26	-16.4455	14.6695	0.68934	0.0:0.0:0.0:1.0	.	612;610;425;612;601;610	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	L	610;610;612;601;610;623;425	ENSP00000334229:H610L;ENSP00000388756:H610L;ENSP00000439392:H612L;ENSP00000379345:H601L;ENSP00000441951:H610L;ENSP00000443204:H623L;ENSP00000445288:H425L	ENSP00000334229:H610L	H	-	2	0	KIAA0528	22522587	1.000000	0.71417	0.940000	0.37924	0.748000	0.42578	7.170000	0.77587	2.197000	0.70478	0.455000	0.32223	CAC		0.368	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		8	23	0	0	0	0.004482	0	8	23				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GCT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_RNA	p.G12A	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	29	0	0	0	0.001984	0	7	29				
RAB5B	5869	broad.mit.edu	37	12	56380786	56380786	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:56380786G>T	ENST00000360299.5	+	2	263	c.42G>T	c.(40-42)caG>caT	p.Q14H	RAB5B_ENST00000448789.2_Missense_Mutation_p.Q14H|RAB5B_ENST00000553116.1_Missense_Mutation_p.Q14H	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	14					antigen processing and presentation (GO:0019882)|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 (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GGCAACCCCAGGCCAGCAAAA	0.522																																							uc001siv.2		NA																	0					0						c.(40-42)CAG>CAT		RAB5B, member RAS oncogene family							65.0	62.0	63.0					12																	56380786		2203	4300	6503	SO:0001583	missense	5869				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr12:56380786G>T		CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"""RAB, member RAS oncogene"""	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.42G>T	12.37:g.56380786G>T	ENSP00000353444:p.Gln14His					RAB5B_uc001siw.2_Missense_Mutation_p.Q14H|RAB5B_uc009zog.2_Missense_Mutation_p.R5M|RAB5B_uc010spz.1_Missense_Mutation_p.Q14H	p.Q14H	NM_002868	NP_002859	P61020	RAB5B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		2	159	+			14					A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Missense_Mutation	SNP	ENST00000360299.5	37	c.42G>T	CCDS8900.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061892	0.36373	.	.	ENSG00000111540	ENST00000553116;ENST00000360299;ENST00000548068;ENST00000549915;ENST00000551459;ENST00000448789	T;T;T;T;T	0.74002	-0.17;-0.17;-0.44;-0.8;-0.44	4.88	2.0	0.26442	.	0.000000	0.56097	D	0.000026	T	0.60689	0.2288	L	0.27053	0.805	0.39428	D	0.96703	P;B	0.37101	0.582;0.003	B;B	0.39738	0.308;0.009	T	0.56129	-0.8030	10	0.40728	T	0.16	-6.1856	8.7445	0.34578	0.2992:0.0:0.7008:0.0	.	14;14	B4DKD7;P61020	.;RAB5B_HUMAN	H	14;14;14;49;14;14	ENSP00000450168:Q14H;ENSP00000353444:Q14H;ENSP00000447895:Q14H;ENSP00000449554:Q14H;ENSP00000391319:Q14H	ENSP00000353444:Q14H	Q	+	3	2	RAB5B	54667053	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	0.316000	0.19469	0.318000	0.23185	0.563000	0.77884	CAG		0.522	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1			15	50	1	0	4.63292e-17	0.008871	6.77365e-17	15	50				
TMEM5	10329	broad.mit.edu	37	12	64202608	64202608	+	Silent	SNP	G	G	T	rs397514545		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:64202608G>T	ENST00000261234.6	+	6	1226	c.1068G>T	c.(1066-1068)gtG>gtT	p.V356V	TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000537373.1_Silent_p.V96V	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	356						integral component of plasma membrane (GO:0005887)		p.V356V(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGGAAGACGTGATGACAGCTG	0.493																																							uc001srq.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1066-1068)GTG>GTT		transmembrane protein 5							148.0	133.0	138.0					12																	64202608		2203	4300	6503	SO:0001819	synonymous_variant	10329					integral to plasma membrane		g.chr12:64202608G>T	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.1068G>T	12.37:g.64202608G>T						TMEM5_uc001srr.1_Silent_p.V253V|TMEM5_uc001srs.1_Silent_p.V96V	p.V356V	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	6	1172	+		Myeloproliferative disorder(1001;0.0255)	356			Extracellular (Potential).		A8K017|Q6PKD6	Silent	SNP	ENST00000261234.6	37	c.1068G>T	CCDS8966.1																																																																																				0.493	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		26	77	1	0	2.85442e-18	0.010818	4.23172e-18	26	77				
TMTC2	160335	broad.mit.edu	37	12	83444707	83444707	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:83444707G>T	ENST00000321196.3	+	10	2884	c.2177G>T	c.(2176-2178)cGt>cTt	p.R726L	TMTC2_ENST00000549919.1_Missense_Mutation_p.R720L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	726					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAAGAAGCTCGTCTCATAGAA	0.383																																							uc001szt.2		NA																	0				ovary(2)	2						c.(2176-2178)CGT>CTT		transmembrane and tetratricopeptide repeat							90.0	86.0	87.0					12																	83444707		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83444707G>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2177G>T	12.37:g.83444707G>T	ENSP00000322300:p.Arg726Leu					TMTC2_uc010suk.1_Missense_Mutation_p.R481L	p.R726L	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			10	2609	+			726			TPR 8.		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.2177G>T	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100533	0.94245	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.63913	-0.07;-0.07	5.94	5.94	0.96194	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.79619	-0.1728	10	0.72032	D	0.01	-15.763	19.3331	0.94299	0.0:0.0:1.0:0.0	.	726	Q8N394	TMTC2_HUMAN	L	726;720;481	ENSP00000322300:R726L;ENSP00000447609:R720L	ENSP00000322300:R726L	R	+	2	0	TMTC2	81968838	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	9.382000	0.97209	2.817000	0.96982	0.555000	0.69702	CGT		0.383	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		8	26	1	0	3.09899e-07	0.004482	3.64992e-07	8	26				
POLR3B	55703	broad.mit.edu	37	12	106857254	106857254	+	Splice_Site	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:106857254A>G	ENST00000228347.4	+	23	2792		c.e23-1		POLR3B_ENST00000539066.1_Splice_Site	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCTTAACACCAGCTACAAAGG	0.378																																							uc001tlp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e23-2		DNA-directed RNA polymerase III B isoform 1							61.0	60.0	60.0					12																	106857254		2203	4300	6503	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106857254A>G	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2571-1A>G	12.37:g.106857254A>G						POLR3B_uc001tlq.2_Splice_Site_p.T799_splice	p.T857_splice	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			23	2793	+								A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37	c.2571_splice	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974601	0.34848	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0185	0.80460	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR3B	105381384	1.000000	0.71417	0.927000	0.36925	0.002000	0.02628	9.300000	0.96151	2.190000	0.69967	0.454000	0.30748	.		0.378	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Intron	13	38	0	0	0	0.00499	0	13	38				
TMEM120B	144404	broad.mit.edu	37	12	122190118	122190118	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:122190118C>T	ENST00000449592.2	+	5	551	c.450C>T	c.(448-450)gtC>gtT	p.V150V	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	150						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		GTCGATTTGTCCTTCACTACA	0.607																																							uc001ubc.3		NA																	0					0						c.(448-450)GTC>GTT		transmembrane protein 120B							109.0	120.0	117.0					12																	122190118		2154	4242	6396	SO:0001819	synonymous_variant	144404					integral to membrane		g.chr12:122190118C>T	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.450C>T	12.37:g.122190118C>T						TMEM120B_uc009zxh.2_Silent_p.V150V	p.V150V	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	5	594	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		150			Helical; (Potential).		A0PK01|B3KX33	Silent	SNP	ENST00000449592.2	37	c.450C>T	CCDS41852.1																																																																																				0.607	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		18	77	0	0	0	0.007413	0	18	77				
PROSER1	80209	broad.mit.edu	37	13	39587831	39587831	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr13:39587831C>A	ENST00000352251.3	-	11	2391	c.1558G>T	c.(1558-1560)Gcc>Tcc	p.A520S	PROSER1_ENST00000350125.3_Missense_Mutation_p.A498S|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	520	Ser-rich.							p.A520P(1)									GCTGATGGGGCATAGCACTTG	0.552																																							uc001uwy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1558-1560)GCC>TCC		hypothetical protein LOC80209 isoform 1							72.0	74.0	73.0					13																	39587831		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39587831C>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1558G>T	13.37:g.39587831C>A	ENSP00000332034:p.Ala520Ser					C13orf23_uc001uwz.2_Missense_Mutation_p.A498S	p.A520S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	11	2431	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	520			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.1558G>T	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	3.710	-0.059661	0.07317	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.29655	1.57;1.56	5.11	-1.1	0.09872	.	.	.	.	.	T	0.16257	0.0391	N	0.19112	0.55	0.09310	N	1	B;B	0.22683	0.073;0.034	B;B	0.24394	0.053;0.036	T	0.32107	-0.9919	8	.	.	.	-0.2177	6.0599	0.19832	0.0:0.3:0.3817:0.3184	.	498;520	A6NJ97;Q86XN7	.;PRSR1_HUMAN	S	520;498	ENSP00000332034:A520S;ENSP00000339123:A498S	.	A	-	1	0	PROSER1	38485831	0.012000	0.17670	0.006000	0.13384	0.118000	0.20060	0.330000	0.19715	-0.142000	0.11354	0.561000	0.74099	GCC		0.552	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		12	21	1	0	7.03913e-09	0.013537	8.83015e-09	12	21				
GPC6	10082	broad.mit.edu	37	13	94482699	94482699	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr13:94482699C>A	ENST00000377047.4	+	3	1227	c.612C>A	c.(610-612)ccC>ccA	p.P204P	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	204					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAGACGTGCCCCGGAAACTGA	0.512																																							uc001vlt.2		NA																	0					0						c.(610-612)CCC>CCA		glypican 6 precursor							72.0	68.0	70.0					13																	94482699		2203	4300	6503	SO:0001819	synonymous_variant	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94482699C>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.612C>A	13.37:g.94482699C>A						GPC6_uc010tig.1_Silent_p.P204P|GPC6_uc001vlu.1_Silent_p.P134P	p.P204P	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			3	1244	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	204					A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	c.612C>A	CCDS9469.1																																																																																				0.512	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		10	23	1	0	0.00621372	0.006214	0.00665307	10	23				
OR4M1	441670	broad.mit.edu	37	14	20249076	20249076	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:20249076A>T	ENST00000315957.4	+	1	676	c.595A>T	c.(595-597)Atg>Ttg	p.M199L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAGTTAGTGATGATCTGTAG	0.478																																							uc010tku.1		NA																	0					0						c.(595-597)ATG>TTG		olfactory receptor, family 4, subfamily M,							418.0	350.0	373.0					14																	20249076		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249076A>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.595A>T	14.37:g.20249076A>T	ENSP00000319654:p.Met199Leu						p.M199L	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	595	+	all_cancers(95;0.00108)		199			Helical; Name=5; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.595A>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	16.65	3.181500	0.57800	.	.	ENSG00000176299	ENST00000315957	T	0.00024	8.98	4.43	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.00109	0.0003	N	0.21545	0.675	0.21553	N	0.999641	B	0.19583	0.037	B	0.21360	0.034	T	0.25745	-1.0123	10	0.72032	D	0.01	-23.0633	7.9261	0.29876	0.899:0.0:0.101:0.0	.	199	Q8NGD0	OR4M1_HUMAN	L	199	ENSP00000319654:M199L	ENSP00000319654:M199L	M	+	1	0	OR4M1	19318916	0.000000	0.05858	0.999000	0.59377	0.976000	0.68499	-0.069000	0.11542	1.995000	0.58328	0.414000	0.27820	ATG		0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			60	116	0	0	0	0.01441	0	60	116				
LTB4R	1241	broad.mit.edu	37	14	24785514	24785514	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:24785514C>A	ENST00000396789.4	+	2	2382	c.657C>A	c.(655-657)acC>acA	p.T219T	LTB4R_ENST00000396782.2_Silent_p.T219T|LTB4R_ENST00000345363.3_Silent_p.T219T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	219					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCCGCCGCACCGGCCGCCTGG	0.716																																							uc001wos.2		NA																	0					0						c.(655-657)ACC>ACA		leukotriene B4 receptor							13.0	17.0	16.0					14																	24785514		2076	4074	6150	SO:0001819	synonymous_variant	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785514C>A	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.657C>A	14.37:g.24785514C>A						LTB4R_uc010alp.2_Silent_p.T219T|LTB4R_uc001wou.2_Silent_p.T219T	p.T219T	NM_001143919	NP_001137391	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	978	+			219			Cytoplasmic (Potential).		Q13305|Q53XV5|Q92641|Q9BSU5	Silent	SNP	ENST00000396789.4	37	c.657C>A	CCDS9626.1																																																																																				0.716	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			8	24	1	0	0.00829132	0.008291	0.0087888	8	24				
NPAS3	64067	broad.mit.edu	37	14	34269442	34269442	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:34269442C>A	ENST00000356141.4	+	12	1929	c.1929C>A	c.(1927-1929)gcC>gcA	p.A643A	NPAS3_ENST00000551492.1_Silent_p.A648A|NPAS3_ENST00000346562.2_Silent_p.A611A|NPAS3_ENST00000548645.1_Silent_p.A613A|NPAS3_ENST00000357798.5_Silent_p.A630A			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	643					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCAACAGTGCCTCGGTGCTCA	0.662																																							uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(1927-1929)GCC>GCA		neuronal PAS domain protein 3 isoform 3							38.0	39.0	38.0					14																	34269442		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269442C>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1929C>A	14.37:g.34269442C>A						NPAS3_uc001wrs.2_Silent_p.A630A|NPAS3_uc001wrt.2_Silent_p.A611A|NPAS3_uc001wrv.2_Silent_p.A613A	p.A643A	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	1993	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		643					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1929C>A	CCDS53891.1																																																																																				0.662	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			33	34	1	0	2.04263e-09	0.004289	2.59304e-09	33	34				
LRFN5	145581	broad.mit.edu	37	14	42356845	42356845	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:42356845C>A	ENST00000298119.4	+	3	2206	c.1017C>A	c.(1015-1017)aaC>aaA	p.N339K	LRFN5_ENST00000554120.1_Missense_Mutation_p.N339K|LRFN5_ENST00000554171.1_Missense_Mutation_p.N339K	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	339	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTATGATAACGGAACACTTG	0.448										HNSCC(30;0.082)																													uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1015-1017)AAC>AAA		leucine rich repeat and fibronectin type III							126.0	122.0	124.0					14																	42356845		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356845C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1017C>A	14.37:g.42356845C>A	ENSP00000298119:p.Asn339Lys	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.N339K	p.N339K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2215	+			339			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1017C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657346	0.47467	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.74106	-0.81;-0.81;-0.81	5.4	-1.73	0.08081	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	D	0.83161	0.5194	M	0.83483	2.645	0.52099	D	0.999944	D;D	0.76494	0.999;0.98	D;D	0.76575	0.988;0.934	T	0.82125	-0.0612	10	0.72032	D	0.01	.	9.8469	0.41032	0.0:0.4212:0.0:0.5788	.	339;339	G3V364;Q96NI6	.;LRFN5_HUMAN	K	339	ENSP00000298119:N339K;ENSP00000451897:N339K;ENSP00000451067:N339K	ENSP00000298119:N339K	N	+	3	2	LRFN5	41426595	0.161000	0.22892	0.995000	0.50966	0.993000	0.82548	-0.501000	0.06398	-0.156000	0.11079	-0.440000	0.05779	AAC		0.448	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		47	72	1	0	4.02871e-13	0.01441	5.6939e-13	47	72				
DDHD1	80821	broad.mit.edu	37	14	53619303	53619303	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:53619303A>T	ENST00000323669.5	-	1	513	c.514T>A	c.(514-516)Tac>Aac	p.Y172N	DDHD1_ENST00000357758.3_Missense_Mutation_p.Y172N|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000395606.1_Missense_Mutation_p.Y172N|RP11-547D23.1_ENST00000554235.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	172					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCCTCCTTGTAGAACCAGCGT	0.677																																							uc001xai.2		NA																	0				ovary(2)	2						c.(514-516)TAC>AAC		DDHD domain containing 1 isoform c							50.0	41.0	44.0					14																	53619303		2202	4300	6502	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53619303A>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.514T>A	14.37:g.53619303A>T	ENSP00000327104:p.Tyr172Asn					DDHD1_uc001xaj.2_Missense_Mutation_p.Y172N|DDHD1_uc001xah.2_Missense_Mutation_p.Y172N	p.Y172N	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			1	744	-	Breast(41;0.037)		172					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.514T>A	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356662	0.82243	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758	.	.	.	3.57	2.42	0.29668	.	0.348517	0.27402	N	0.019532	T	0.68165	0.2971	L	0.58810	1.83	0.52501	D	0.999955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.67019	-0.5776	9	0.87932	D	0	-2.5504	8.5117	0.33222	0.9053:0.0:0.0947:0.0	.	172;172;172	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	N	172	.	ENSP00000327104:Y172N	Y	-	1	0	DDHD1	52689053	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.949000	0.87791	0.447000	0.26695	0.379000	0.24179	TAC		0.677	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			9	56	0	0	0	0.013537	0	9	56				
ZFYVE26	23503	broad.mit.edu	37	14	68282537	68282537	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:68282537C>T	ENST00000347230.4	-	2	282	c.144G>A	c.(142-144)aaG>aaA	p.K48K	ZFYVE26_ENST00000555452.1_Silent_p.K48K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	48					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTTCTACCCTCTTTGGGATAT	0.522																																							uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(142-144)AAG>AAA		zinc finger, FYVE domain containing 26							190.0	152.0	165.0					14																	68282537		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68282537C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.144G>A	14.37:g.68282537C>T						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.K48K|ZFYVE26_uc010tta.1_Silent_p.K48K	p.K48K	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	2	283	-			48					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.144G>A	CCDS9788.1																																																																																				0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		4	135	0	0	0	0.009096	0	4	135				
ADAM21P1	145241	broad.mit.edu	37	14	70713810	70713810	+	RNA	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:70713810C>A	ENST00000530196.1	-	0	708					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GAGTTCTCAGCCTCTTCAAAT	0.433																																							uc010ttg.1		NA																	0					0						c.(58-60)GCT>TCT		SubName: Full=ADAM21-like protein;																																						145241							g.chr14:70713810C>A			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713810C>A							p.A20S	NR_003951						1	709	-									Missense_Mutation	SNP	ENST00000530196.1	37	c.58G>T																																																																																					0.433	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		14	60	1	0	1.15088e-07	0.004007	1.37071e-07	14	60				
DICER1	23405	broad.mit.edu	37	14	95598876	95598876	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:95598876T>C	ENST00000526495.1	-	5	574	c.283A>G	c.(283-285)Agg>Ggg	p.R95G	DICER1_ENST00000343455.3_Missense_Mutation_p.R95G|DICER1_ENST00000393063.1_Missense_Mutation_p.R95G|DICER1_ENST00000541352.1_Missense_Mutation_p.R95G|DICER1_ENST00000527414.1_Missense_Mutation_p.R95G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	95	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AACACCGTCCTTTTTCCATTT	0.383			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(283-285)AGG>GGG		dicer1							151.0	152.0	152.0					14																	95598876		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95598876T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.283A>G	14.37:g.95598876T>C	ENSP00000437256:p.Arg95Gly					DICER1_uc001ydv.2_Missense_Mutation_p.R85G|DICER1_uc001ydx.2_Missense_Mutation_p.R95G|DICER1_uc001ydz.1_RNA|DICER1_uc001yea.1_RNA|DICER1_uc001yeb.1_RNA	p.R95G	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	4	465	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	95			Helicase ATP-binding.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.283A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057042	0.76074	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	4.89	4.89	0.63831	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.040192	0.85682	D	0.000000	T	0.46386	0.1390	H	0.94306	3.52	0.80722	D	1	D	0.52996	0.957	P	0.57057	0.812	T	0.58364	-0.7649	10	0.26408	T	0.33	-19.8889	14.8002	0.69909	0.0:0.0:0.0:1.0	.	95	Q9UPY3	DICER_HUMAN	G	95	ENSP00000343745:R95G;ENSP00000437256:R95G;ENSP00000376783:R95G;ENSP00000435681:R95G;ENSP00000444719:R95G	ENSP00000343745:R95G	R	-	1	2	DICER1	94668629	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.779000	0.62375	1.966000	0.57179	0.533000	0.62120	AGG		0.383	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			3	128	0	0	0	0.004672	0	3	128				
AHNAK2	113146	broad.mit.edu	37	14	105416061	105416061	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:105416061C>A	ENST00000333244.5	-	7	5846	c.5727G>T	c.(5725-5727)gtG>gtT	p.V1909V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1909						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATATCCACCTTGGGCA	0.617																																							uc010axc.1		NA																	0				ovary(1)	1						c.(5725-5727)GTG>GTT		AHNAK nucleoprotein 2							120.0	131.0	127.0					14																	105416061		1852	4059	5911	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105416061C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5727G>T	14.37:g.105416061C>A						AHNAK2_uc001ypx.2_Silent_p.V1809V	p.V1909V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5847	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1909					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.5727G>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		12	199	1	0	6.31663e-08	0.003163	7.65214e-08	12	199				
NPAP1	23742	broad.mit.edu	37	15	24923826	24923826	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr15:24923826G>T	ENST00000329468.2	+	1	3286	c.2812G>T	c.(2812-2814)Ggc>Tgc	p.G938C		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	938					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCCACTGAGTGGCAGCATAAT	0.488																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2812-2814)GGC>TGC		hypothetical protein LOC23742							82.0	85.0	84.0					15																	24923826		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923826G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2812G>T	15.37:g.24923826G>T	ENSP00000333735:p.Gly938Cys						p.G938C	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3286	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	938						Missense_Mutation	SNP	ENST00000329468.2	37	c.2812G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.22	2.171961	0.38315	.	.	ENSG00000185823	ENST00000329468	T	0.36699	1.24	1.97	-1.31	0.09230	.	0.754885	0.11352	N	0.572836	T	0.39253	0.1071	L	0.39898	1.24	0.09310	N	1	D	0.76494	0.999	P	0.62740	0.906	T	0.23511	-1.0186	10	0.62326	D	0.03	.	2.7397	0.05250	0.3455:0.2534:0.401:0.0	.	938	Q9NZP6	CO002_HUMAN	C	938	ENSP00000333735:G938C	ENSP00000333735:G938C	G	+	1	0	C15orf2	22474919	0.000000	0.05858	0.000000	0.03702	0.508000	0.34012	-0.338000	0.07842	-0.355000	0.08199	0.205000	0.17691	GGC		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		12	69	1	0	9.04627e-18	0.001855	1.33181e-17	12	69				
RAD51	5888	broad.mit.edu	37	15	41022102	41022102	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr15:41022102G>A	ENST00000267868.3	+	9	1094	c.826G>A	c.(826-828)Gca>Aca	p.A276T	RAD51_ENST00000557850.1_Missense_Mutation_p.A179T|RAD51_ENST00000530766.1_Intron|RAD51_ENST00000382643.3_Missense_Mutation_p.A277T|RAD51_ENST00000532743.1_Missense_Mutation_p.A277T|RAD51_ENST00000423169.2_Intron	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	276					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AGTGGATGGAGCAGCGATGTT	0.438								Homologous recombination																															uc001zmi.3		NA																	0					0						c.(826-828)GCA>ACA	Homologous_recombination	RAD51 homolog protein isoform 1							126.0	108.0	114.0					15																	41022102		2203	4300	6503	SO:0001583	missense	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:41022102G>A	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.826G>A	15.37:g.41022102G>A	ENSP00000267868:p.Ala276Thr					RAD51_uc010bbw.2_Intron|RAD51_uc010bbx.2_Missense_Mutation_p.A277T|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.A277T	p.A276T	NM_002875	NP_002866	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	9	1125	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	276					B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.826G>A	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136970	0.77775	.	.	ENSG00000051180	ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T	0.66638	-0.22;-0.22;-0.22	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.103605	0.64402	D	0.000003	T	0.67757	0.2927	L	0.55834	1.745	0.80722	D	1	B;B	0.19445	0.036;0.012	B;B	0.34242	0.178;0.049	T	0.62539	-0.6833	10	0.26408	T	0.33	-15.5858	18.5504	0.91062	0.0:0.0:1.0:0.0	.	277;276	Q6ZNA8;Q06609	.;RAD51_HUMAN	T	179;276;277;277	ENSP00000267868:A276T;ENSP00000433924:A277T;ENSP00000372088:A277T	ENSP00000267868:A276T	A	+	1	0	RAD51	38809394	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.429000	0.97481	2.605000	0.88082	0.563000	0.77884	GCA		0.438	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		3	37	0	0	0	0.004672	0	3	37				
C15orf26	161502	broad.mit.edu	37	15	81429038	81429038	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr15:81429038G>A	ENST00000286732.4	+	3	424	c.341G>A	c.(340-342)aGc>aAc	p.S114N		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	114										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TGTGGCCTGAGCGCAGTTCAA	0.423																																							uc002bgb.2		NA																	0					0						c.(340-342)AGC>AAC		hypothetical protein LOC161502							103.0	105.0	104.0					15																	81429038		2001	4170	6171	SO:0001583	missense	161502							g.chr15:81429038G>A	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.341G>A	15.37:g.81429038G>A	ENSP00000286732:p.Ser114Asn					C15orf26_uc010blp.1_Missense_Mutation_p.S89N	p.S114N	NM_173528	NP_775799	Q6P656	CO026_HUMAN			3	368	+			114					Q8N906	Missense_Mutation	SNP	ENST00000286732.4	37	c.341G>A	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243022	0.39697	.	.	ENSG00000156206	ENST00000286732;ENST00000398681	T	0.46819	0.86	5.31	3.26	0.37387	.	0.190672	0.56097	D	0.000039	T	0.64832	0.2634	M	0.80183	2.485	0.42641	D	0.993412	D	0.63046	0.992	P	0.55923	0.787	T	0.74711	-0.3573	10	0.72032	D	0.01	-7.6838	16.5269	0.84333	0.0:0.2618:0.7382:0.0	.	114	Q6P656	CO026_HUMAN	N	114;89	ENSP00000286732:S114N	ENSP00000286732:S114N	S	+	2	0	C15orf26	79216093	0.988000	0.35896	0.828000	0.32881	0.029000	0.11900	2.059000	0.41384	1.193000	0.43086	0.650000	0.86243	AGC		0.423	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		6	52	0	0	0	0.001984	0	6	52				
ACAN	176	broad.mit.edu	37	15	89382237	89382237	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr15:89382237C>A	ENST00000561243.1	+	2	414	c.414C>A	c.(412-414)ggC>ggA	p.G138G	ACAN_ENST00000558207.1_Silent_p.G138G|ACAN_ENST00000352105.7_Silent_p.G138G|ACAN_ENST00000439576.2_Silent_p.G138G|ACAN_ENST00000559004.1_Silent_p.G138G			P16112	PGCA_HUMAN	aggrecan	138	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGATGCATGGCATCGAGGACA	0.607																																							uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(412-414)GGC>GGA		aggrecan isoform 2 precursor							93.0	103.0	99.0					15																	89382237		2128	4237	6365	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382237C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.414C>A	15.37:g.89382237C>A						ACAN_uc002bmx.2_Silent_p.G138G|ACAN_uc010upp.1_Silent_p.G138G|ACAN_uc002bna.2_RNA	p.G138G	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	788	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		138					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.414C>A	CCDS53970.1																																																																																				0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		13	56	1	0	1.49906e-05	0.00245	1.73661e-05	13	56				
PPL	5493	broad.mit.edu	37	16	4960865	4960865	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:4960865C>T	ENST00000345988.2	-	2	237	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	PPL_ENST00000590782.2_Missense_Mutation_p.A50T	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	50					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCATCTTGGCCTCTGTGTCC	0.592																																							uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(148-150)GCC>ACC		periplakin							154.0	103.0	120.0					16																	4960865		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4960865C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.148G>A	16.37:g.4960865C>T	ENSP00000340510:p.Ala50Thr						p.A50T	NM_002705	NP_002696	O60437	PEPL_HUMAN			2	238	-			50			Potential.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.148G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434655	0.43224	.	.	ENSG00000118898	ENST00000345988	T	0.67523	-0.27	4.96	3.91	0.45181	.	0.252403	0.34652	N	0.003789	T	0.45256	0.1333	L	0.28274	0.84	0.28704	N	0.903936	B	0.15141	0.012	B	0.12156	0.007	T	0.19224	-1.0312	10	0.13108	T	0.6	.	5.3588	0.16075	0.186:0.6367:0.0:0.1772	.	50	O60437	PEPL_HUMAN	T	50	ENSP00000340510:A50T	ENSP00000340510:A50T	A	-	1	0	PPL	4900866	0.993000	0.37304	1.000000	0.80357	0.975000	0.68041	0.818000	0.27295	2.314000	0.78098	0.561000	0.74099	GCC		0.592	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		9	92	0	0	0	0.010729	0	9	92				
RBFOX1	54715	broad.mit.edu	37	16	7759094	7759094	+	Missense_Mutation	SNP	C	C	A	rs534312610	byFrequency	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:7759094C>A	ENST00000550418.1	+	15	2020	c.1032C>A	c.(1030-1032)caC>caA	p.H344Q	RBFOX1_ENST00000547338.1_Missense_Mutation_p.H344Q|RBFOX1_ENST00000311745.5_Missense_Mutation_p.H365Q|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T379K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T319K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.H387Q|RBFOX1_ENST00000340209.4_Missense_Mutation_p.H349Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.H317Q|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T383K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.H365Q|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T405K	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	344					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCTACCACCACGCACTTGCTC	0.498																																					Ovarian(157;934 2567 15163 39509)		uc002cys.2		NA																	0					0						c.(1030-1032)CAC>CAA		ataxin 2-binding protein 1 isoform 4							182.0	163.0	170.0					16																	7759094		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7759094C>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1032C>A	16.37:g.7759094C>A	ENSP00000450031:p.His344Gln					A2BP1_uc002cyt.2_Missense_Mutation_p.H317Q|A2BP1_uc010uxz.1_Missense_Mutation_p.H387Q|A2BP1_uc010uya.1_Missense_Mutation_p.T319K|A2BP1_uc010uyb.1_Missense_Mutation_p.H344Q|A2BP1_uc002cyw.2_Missense_Mutation_p.T383K|A2BP1_uc002cyy.2_Missense_Mutation_p.H365Q|A2BP1_uc002cyx.2_Missense_Mutation_p.H365Q|A2BP1_uc010uyc.1_Missense_Mutation_p.H338Q	p.H344Q	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	15	2020	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	344					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.1032C>A	CCDS55983.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.416043|4.416043	0.83449|0.83449	.|.	.|.	ENSG00000078328|ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000422070;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000352951;ENST00000340209|ENST00000547372;ENST00000535565;ENST00000552089;ENST00000355637	T;T;T;T;T;T;T|T;T	0.39787|0.34472	1.06;1.54;1.52;1.06;1.4;1.54;1.14|1.36;1.76	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57519|0.57519	0.2059|0.2059	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|D;D	0.89917|0.67145	1.0;0.999;1.0;1.0;0.978;0.994|0.996;0.996	D;D;D;D;D;D|D;D	0.87578|0.79108	0.985;0.958;0.998;0.997;0.935;0.954|0.992;0.992	T|T	0.57728|0.57728	-0.7761|-0.7761	10|9	0.52906|0.87932	T|D	0.07|0	-15.3482|-15.3482	19.7525|19.7525	0.96273|0.96273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	338;387;365;365;317;344|319;383	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-3;Q9NWB1|F5H0M1;Q9NWB1-5	.;.;.;.;.;RFOX1_HUMAN|.;.	Q|K	344;317;387;344;365;365;338;349|405;319;379;383	ENSP00000450031:H344Q;ENSP00000447753:H317Q;ENSP00000391269:H387Q;ENSP00000447717:H344Q;ENSP00000402745:H365Q;ENSP00000309117:H365Q;ENSP00000344196:H349Q|ENSP00000446842:T405K;ENSP00000347855:T383K	ENSP00000309117:H365Q|ENSP00000347855:T383K	H|T	+|+	3|2	2|0	RBFOX1|RBFOX1	7699095|7699095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.459000|5.459000	0.66685|0.66685	2.666000|2.666000	0.90696|0.90696	0.563000|0.563000	0.77884|0.77884	CAC|ACG		0.498	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		17	78	1	0	0.000295444	0.014323	0.000327927	17	78				
ABCC6	368	broad.mit.edu	37	16	16255397	16255397	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:16255397G>A	ENST00000205557.7	-	25	3560	c.3531C>T	c.(3529-3531)ctC>ctT	p.L1177L		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1177	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CATTCCCCAGGAGCTCCACAT	0.607																																							uc002den.3		NA																	0				skin(2)|ovary(1)	3						c.(3529-3531)CTC>CTT		ATP-binding cassette, sub-family C, member 6							63.0	59.0	61.0					16																	16255397		2197	4300	6497	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16255397G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3531C>T	16.37:g.16255397G>A						ABCC6_uc010bvo.2_RNA	p.L1177L	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	25	3568	-			1177			Helical; Name=16; (By similarity).|ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.3531C>T	CCDS10568.1																																																																																				0.607	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			3	44	0	0	0	0.004672	0	3	44				
ERN2	10595	broad.mit.edu	37	16	23718096	23718096	+	Missense_Mutation	SNP	G	G	T	rs143761786		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:23718096G>T	ENST00000457008.2	-	6	504	c.466C>A	c.(466-468)Cgc>Agc	p.R156S	ERN2_ENST00000256797.4_Missense_Mutation_p.R204S					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ATGTAGAGGCGGGGGGTGGAG	0.607																																							uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(610-612)CGC>AGC		endoplasmic reticulum to nucleus signalling 2							54.0	55.0	55.0					16																	23718096		2195	4300	6495	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718096G>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.466C>A	16.37:g.23718096G>T	ENSP00000413812:p.Arg156Ser					ERN2_uc010bxp.2_Missense_Mutation_p.R204S|ERN2_uc010bxq.1_Missense_Mutation_p.R12S	p.R204S	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	6	779	-			156			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.610C>A		.	.	.	.	.	.	.	.	.	.	G	7.662	0.685193	0.14973	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.57436	0.4;0.4	5.6	3.65	0.41850	Quinonprotein alcohol dehydrogenase-like (2);	0.273852	0.36066	N	0.002817	T	0.32496	0.0831	N	0.20530	0.585	0.23813	N	0.996771	B;B;B	0.26195	0.002;0.116;0.144	B;B;B	0.25987	0.009;0.048;0.065	T	0.19063	-1.0317	10	0.09338	T	0.73	.	10.0198	0.42035	0.1645:0.0:0.8355:0.0	.	156;156;156	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	S	204;156	ENSP00000256797:R204S;ENSP00000413812:R156S	ENSP00000256797:R204S	R	-	1	0	ERN2	23625597	1.000000	0.71417	0.803000	0.32268	0.252000	0.25951	5.697000	0.68295	0.733000	0.32492	0.462000	0.41574	CGC		0.607	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			15	62	1	0	2.52088e-20	0.00278	3.87265e-20	15	62				
DOC2A	8448	broad.mit.edu	37	16	30020381	30020381	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:30020381C>G	ENST00000350119.4	-	5	653	c.463G>C	c.(463-465)Gtg>Ctg	p.V155L	DOC2A_ENST00000564979.1_Missense_Mutation_p.V155L|DOC2A_ENST00000564944.1_Missense_Mutation_p.V155L	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	155	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TCATTCCACACGGGATTCAGT	0.567																																							uc002dvm.2		NA																	0				ovary(2)	2						c.(463-465)GTG>CTG		double C2-like domains, alpha							215.0	179.0	191.0					16																	30020381		2197	4300	6497	SO:0001583	missense	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30020381C>G	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.463G>C	16.37:g.30020381C>G	ENSP00000340017:p.Val155Leu					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.V155L|DOC2A_uc002dvn.2_Missense_Mutation_p.V155L|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.V155L|DOC2A_uc002dvp.2_Missense_Mutation_p.V155L|DOC2A_uc002dvq.2_Missense_Mutation_p.V155L	p.V155L	NM_003586	NP_003577	Q14183	DOC2A_HUMAN			5	563	-			155			C2 1.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	37	c.463G>C	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108283	0.56291	.	.	ENSG00000149927	ENST00000350119	T	0.71817	-0.6	5.58	5.58	0.84498	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.155671	0.30630	N	0.009219	T	0.68815	0.3042	M	0.71871	2.18	0.39786	D	0.972364	B	0.26195	0.144	B	0.26770	0.073	T	0.70714	-0.4796	10	0.72032	D	0.01	.	10.4977	0.44788	0.0:0.9122:0.0:0.0878	.	155	Q14183	DOC2A_HUMAN	L	155	ENSP00000340017:V155L	ENSP00000340017:V155L	V	-	1	0	DOC2A	29927882	0.955000	0.32602	0.951000	0.38953	0.887000	0.51463	2.353000	0.44089	2.630000	0.89119	0.491000	0.48974	GTG		0.567	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		7	60	0	0	0	0.001984	0	7	60				
ITGAX	3687	broad.mit.edu	37	16	31384586	31384586	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:31384586G>T	ENST00000268296.4	+	20	2504	c.2383G>T	c.(2383-2385)Gtg>Ttg	p.V795L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V795L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	795					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTCCCTGCTGGTGGGGAGTAA	0.542																																							uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2383-2385)GTG>TTG		integrin alpha X precursor							110.0	89.0	97.0					16																	31384586		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31384586G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2383G>T	16.37:g.31384586G>T	ENSP00000268296:p.Val795Leu					ITGAX_uc002ebt.2_Missense_Mutation_p.V795L	p.V795L	NM_000887	NP_000878	P20702	ITAX_HUMAN			20	2450	+			795			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2383G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419497	0.83559	.	.	ENSG00000140678	ENST00000268296	T	0.34667	1.35	4.89	4.89	0.63831	Integrin alpha-2 (1);	.	.	.	.	T	0.61286	0.2335	M	0.82517	2.595	0.44261	D	0.997111	D	0.89917	1.0	D	0.91635	0.999	T	0.58634	-0.7602	9	0.24483	T	0.36	.	15.4129	0.74941	0.0:0.0:1.0:0.0	.	795	P20702	ITAX_HUMAN	L	795	ENSP00000268296:V795L	ENSP00000268296:V795L	V	+	1	0	ITGAX	31292087	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.224000	0.72265	2.708000	0.92522	0.591000	0.81541	GTG		0.542	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		18	79	1	0	4.35082e-09	0.010504	5.49032e-09	18	79				
ARMC5	79798	broad.mit.edu	37	16	31474186	31474186	+	Missense_Mutation	SNP	C	C	G	rs535294233		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:31474186C>G	ENST00000563544.1	+	4	1864	c.1318C>G	c.(1318-1320)Cct>Gct	p.P440A	ARMC5_ENST00000268314.4_Missense_Mutation_p.P440A|ARMC5_ENST00000412665.2_Missense_Mutation_p.P84A|ARMC5_ENST00000538189.1_Missense_Mutation_p.P472A|ARMC5_ENST00000408912.3_Missense_Mutation_p.P535A|ARMC5_ENST00000457010.2_Missense_Mutation_p.P440A			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	440										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGGGACTTTCCTGAGGAGAG	0.627													c|||	1	0.000199681	0.0008	0.0	5008	,	,		16117	0.0		0.0	False		,,,				2504	0.0						uc002ecc.2		NA																	0				pancreas(1)	1						c.(1318-1320)CCT>GCT		armadillo repeat containing 5 isoform a							15.0	17.0	17.0					16																	31474186		2016	4171	6187	SO:0001583	missense	79798						binding	g.chr16:31474186C>G	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1318C>G	16.37:g.31474186C>G	ENSP00000456877:p.Pro440Ala					ARMC5_uc010vfn.1_Missense_Mutation_p.P535A|ARMC5_uc010vfo.1_Missense_Mutation_p.P472A|ARMC5_uc002eca.3_Missense_Mutation_p.P440A|ARMC5_uc010vfp.1_Missense_Mutation_p.P248A|ARMC5_uc002ecb.2_Missense_Mutation_p.P440A	p.P440A	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			3	1847	+			440			ARM 7.		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1318C>G	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	18.51	3.640214	0.67244	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	4.84	4.84	0.62591	Armadillo-like helical (1);	0.055467	0.64402	D	0.000001	T	0.43144	0.1234	L	0.59436	1.845	0.41576	D	0.988715	D;D;D;D;D	0.89917	0.979;0.979;0.979;0.979;1.0	P;P;P;P;D	0.85130	0.846;0.846;0.846;0.846;0.997	T	0.35624	-0.9781	10	0.59425	D	0.04	-25.4603	15.4325	0.75112	0.0:1.0:0.0:0.0	.	472;472;535;440;440	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	A	535;472;440;440;84	ENSP00000386125:P535A;ENSP00000443995:P472A;ENSP00000268314:P440A;ENSP00000399561:P440A;ENSP00000400183:P84A	ENSP00000268314:P440A	P	+	1	0	ARMC5	31381687	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.973000	0.49264	2.227000	0.72691	0.457000	0.33378	CCT		0.627	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	14	0	0	0	0.004672	0	3	14				
CDH8	1006	broad.mit.edu	37	16	62055216	62055216	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:62055216G>A	ENST00000577390.1	-	2	1046	c.92C>T	c.(91-93)cCg>cTg	p.P31L	CDH8_ENST00000584337.1_Missense_Mutation_p.P31L|CDH8_ENST00000299345.6_Missense_Mutation_p.P31L|CDH8_ENST00000577730.1_Missense_Mutation_p.P31L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	31					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTGATTCATCGGAGCCATGTA	0.458																																							uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(91-93)CCG>CTG		cadherin 8, type 2 preproprotein							78.0	79.0	78.0					16																	62055216		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055216G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.92C>T	16.37:g.62055216G>A	ENSP00000462701:p.Pro31Leu						p.P31L	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	344	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	31					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.92C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981968	0.74474	.	.	ENSG00000150394	ENST00000299345	T	0.53206	0.63	6.17	6.17	0.99709	.	0.262657	0.37955	N	0.001874	T	0.46833	0.1413	L	0.59436	1.845	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.44757	-0.9307	10	0.10636	T	0.68	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	31	P55286	CADH8_HUMAN	L	31	ENSP00000299345:P31L	ENSP00000299345:P31L	P	-	2	0	CDH8	60612717	1.000000	0.71417	0.976000	0.42696	0.729000	0.41735	9.148000	0.94652	2.941000	0.99782	0.655000	0.94253	CCG		0.458	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	45	0	0	0	0.000602	0	5	45				
ZNF821	55565	broad.mit.edu	37	16	71913844	71913844	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:71913844G>A	ENST00000565601.1	-	2	413	c.6C>T	c.(4-6)tcC>tcT	p.S2S	ZNF821_ENST00000564134.1_Silent_p.S2S|ZNF821_ENST00000446827.2_Silent_p.S2S|ZNF821_ENST00000425432.1_Silent_p.S2S|ZNF821_ENST00000564943.1_5'UTR|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Silent_p.S2S|RP11-498D10.3_ENST00000561979.1_RNA	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GTTTCCGACGGGACATGTTTC	0.448																																							uc010vmj.1		NA																	0				ovary(1)	1						c.(4-6)TCC>TCT		zinc finger protein 821							273.0	257.0	263.0					16																	71913844		2198	4300	6498	SO:0001819	synonymous_variant	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71913844G>A	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.6C>T	16.37:g.71913844G>A						ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_5'UTR|ZNF821_uc002fbf.2_Silent_p.S2S|ZNF821_uc002fbg.3_5'UTR|ZNF821_uc002fbh.3_Silent_p.S2S|ZNF821_uc002fbi.3_5'UTR	p.S2S	NM_017530	NP_060000	O75541	ZN821_HUMAN			2	382	-			2					A6NK48|B4DKK4|D3DWS3	Silent	SNP	ENST00000565601.1	37	c.6C>T	CCDS56006.1																																																																																				0.448	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		14	153	0	0	0	0.004007	0	14	153				
ADAMTS18	170692	broad.mit.edu	37	16	77369751	77369751	+	Silent	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:77369751G>T	ENST00000282849.5	-	12	2179	c.1761C>A	c.(1759-1761)ccC>ccA	p.P587P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	587					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGCCGTGGATGGGCCGGGGCC	0.577																																							uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1759-1761)CCC>CCA		ADAM metallopeptidase with thrombospondin type 1							135.0	140.0	138.0					16																	77369751		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77369751G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1761C>A	16.37:g.77369751G>T						ADAMTS18_uc010chc.1_Silent_p.P175P|ADAMTS18_uc002ffe.1_Silent_p.P283P	p.P587P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			12	2180	-			587					Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.1761C>A	CCDS10926.1																																																																																				0.577	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			56	98	1	0	2.6711e-34	0.01441	4.2577e-34	56	98				
ACSF3	197322	broad.mit.edu	37	16	89178532	89178532	+	Silent	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:89178532G>T	ENST00000317447.4	+	5	1232	c.855G>T	c.(853-855)ccG>ccT	p.P285P	ACSF3_ENST00000406948.3_Silent_p.P285P|CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Silent_p.P20P	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	285					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTGAAACGCCGCGGATCAATG	0.532																																							uc002fmp.2		NA																	0					0						c.(853-855)CCG>CCT		acyl-CoA synthetase family member 3 precursor							165.0	170.0	169.0					16																	89178532		2198	4300	6498	SO:0001819	synonymous_variant	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89178532G>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.855G>T	16.37:g.89178532G>T						ACSF3_uc010cig.1_Silent_p.P285P|ACSF3_uc010cih.1_Silent_p.P20P|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Silent_p.P20P	p.P285P	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	5	1195	+			285					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	37	c.855G>T	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	1.152	-0.646294	0.03531	.	.	ENSG00000176715	ENST00000543676	.	.	.	4.49	-8.98	0.00754	.	.	.	.	.	T	0.42675	0.1213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47983	-0.9074	4	.	.	.	-5.2367	5.3047	0.15797	0.2017:0.4534:0.2652:0.0797	.	.	.	.	S	33	.	.	A	+	1	0	ACSF3	87706033	0.000000	0.05858	0.002000	0.10522	0.159000	0.22180	-1.952000	0.01528	-2.254000	0.00697	-0.484000	0.04775	GCG		0.532	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		49	114	1	0	2.24722e-20	0.01441	3.47745e-20	49	114				
RANGRF	29098	broad.mit.edu	37	17	8193136	8193136	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:8193136A>G	ENST00000226105.6	+	5	735	c.443A>G	c.(442-444)gAc>gGc	p.D148G	RANGRF_ENST00000580434.1_Nonstop_Mutation_p.*119W|SLC25A35_ENST00000580340.1_Intron|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000407006.4_3'UTR|RANGRF_ENST00000439238.3_3'UTR|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000380067.2_Intron|SLC25A35_ENST00000581320.1_5'Flank	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	148					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein localization to cell surface (GO:2000010)|protein exit from endoplasmic reticulum (GO:0032527)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization (GO:0003254)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	guanyl-nucleotide exchange factor activity (GO:0005085)|ion channel binding (GO:0044325)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)|sodium channel regulator activity (GO:0017080)			endometrium(1)	1						CCAAGCCCTGACAACAGGTCA	0.542																																							uc002gkv.2		NA																	0					0						c.(442-444)GAC>GGC		RAN guanine nucleotide release factor							91.0	88.0	89.0					17																	8193136		2203	4300	6503	SO:0001583	missense	29098				protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity	g.chr17:8193136A>G	AF151070	CCDS11137.1, CCDS54086.1, CCDS54087.1	17p13	2014-05-09				ENSG00000108961			17679	protein-coding gene	gene with protein product	"""MOG1 homolog (S. cerevisiae)"""	607954				11290418	Standard	NM_016492		Approved	MOG1, HSPC165, HSPC236, RANGNRF	uc002gkv.3	Q9HD47		ENST00000226105.6:c.443A>G	17.37:g.8193136A>G	ENSP00000226105:p.Asp148Gly					SLC25A35_uc002gku.1_Intron|SLC25A35_uc002gkt.2_Intron|RANGRF_uc002gkw.2_Nonstop_Mutation_p.*119W|RANGRF_uc002gky.2_3'UTR|RANGRF_uc002gkx.2_3'UTR|SLC25A35_uc002gkz.1_Intron	p.D148G	NM_016492	NP_057576	Q9HD47	MOG1_HUMAN			5	561	+			148					D3DTR6|Q68DI3|Q9BR68|Q9HD48|Q9NRU9|Q9P001|Q9P0P2	Missense_Mutation	SNP	ENST00000226105.6	37	c.443A>G	CCDS11137.1	.	.	.	.	.	.	.	.	.	.	A	8.516	0.867731	0.17250	.	.	ENSG00000108961	ENST00000226105	T	0.76316	-1.01	5.22	4.12	0.48240	Mog1/PsbP, alpha/beta/alpha sandwich (1);Mog1/PsbP/DUF1795, alpha/beta/alpha sandwich (1);	0.784900	0.11875	N	0.521064	T	0.53674	0.1811	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50303	-0.8844	10	0.23891	T	0.37	-3.545	8.0701	0.30685	0.9031:0.0:0.0969:0.0	.	148	Q9HD47	MOG1_HUMAN	G	148	ENSP00000226105:D148G	ENSP00000226105:D148G	D	+	2	0	RANGRF	8133861	0.976000	0.34144	0.994000	0.49952	0.369000	0.29798	2.156000	0.42310	2.090000	0.63153	0.421000	0.28195	GAC		0.542	RANGRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442127.1	NM_016492		11	58	0	0	0	0.001855	0	11	58				
EPN2	22905	broad.mit.edu	37	17	19186997	19186997	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:19186997G>T	ENST00000314728.5	+	3	1049	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395620.2_Missense_Mutation_p.A189S|EPN2_ENST00000571254.1_Missense_Mutation_p.A189S|EPN2_ENST00000395626.1_Missense_Mutation_p.A189S|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.A189S	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	189					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GTATGGCAAGGCCGGGGGCTC	0.627																																							uc002gvd.3		NA																	0				skin(1)	1						c.(565-567)GCC>TCC		epsin 2 isoform b							13.0	16.0	15.0					17																	19186997		2113	4203	6316	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19186997G>T	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.565G>T	17.37:g.19186997G>T	ENSP00000320543:p.Ala189Ser					EPN2_uc002gvc.2_Missense_Mutation_p.A189S|EPN2_uc010vyn.1_Missense_Mutation_p.A189S|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.A189S|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.A189S|EPN2_uc010vyp.1_Missense_Mutation_p.A189S|EPN2_uc010vyq.1_Missense_Mutation_p.A189S|EPN2_uc002gvh.1_Missense_Mutation_p.A189S	p.A189S	NM_014964	NP_055779	O95208	EPN2_HUMAN			3	1013	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		189					A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.565G>T	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	1.719	-0.497141	0.04291	.	.	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.29397	2.63;2.58;1.59;2.63;1.57	5.03	2.72	0.32119	.	0.215951	0.49916	D	0.000124	T	0.07638	0.0192	N	0.00771	-1.2	0.19300	N	0.999978	B;B;B;B;B;B	0.16802	0.012;0.007;0.004;0.019;0.012;0.001	B;B;B;B;B;B	0.17433	0.006;0.007;0.004;0.018;0.006;0.004	T	0.36383	-0.9750	10	0.08837	T	0.75	-17.017	6.2433	0.20803	0.0985:0.0:0.507:0.3945	.	189;189;189;189;189;189	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	S	189	ENSP00000261495:A189S;ENSP00000320543:A189S;ENSP00000378990:A189S;ENSP00000378982:A189S;ENSP00000378988:A189S	ENSP00000320543:A189S	A	+	1	0	EPN2	19127590	1.000000	0.71417	0.995000	0.50966	0.624000	0.37722	5.526000	0.67116	1.221000	0.43506	0.561000	0.74099	GCC		0.627	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		3	22	1	0	1.024e-07	0.000602	1.23345e-07	3	22				
KRT35	3886	broad.mit.edu	37	17	39633315	39633315	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:39633315C>T	ENST00000393989.1	-	7	1403	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	KRT35_ENST00000246639.2_Missense_Mutation_p.R424Q	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	454	Tail.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTCTCAGAACCGACCCCCTGG	0.602																																							uc002hws.2		NA																	0				ovary(1)|skin(1)	2						c.(1360-1362)CGG>CAG		keratin 35							45.0	50.0	49.0					17																	39633315		1900	4112	6012	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39633315C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1361G>A	17.37:g.39633315C>T	ENSP00000377558:p.Arg454Gln						p.R454Q	NM_002280	NP_002271	Q92764	KRT35_HUMAN			7	1404	-		Breast(137;0.000286)	454			Tail.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.1361G>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997063	0.74818	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.82803	-1.65;-1.56	5.41	5.41	0.78517	.	0.598018	0.15198	N	0.275165	T	0.77164	0.4090	L	0.56769	1.78	0.39820	D	0.972822	P	0.42357	0.777	B	0.26770	0.073	T	0.81908	-0.0717	10	0.72032	D	0.01	.	14.573	0.68224	0.0:1.0:0.0:0.0	.	454	Q92764	KRT35_HUMAN	Q	424;454	ENSP00000246639:R424Q;ENSP00000377558:R454Q	ENSP00000246639:R424Q	R	-	2	0	KRT35	36886841	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.256000	0.51492	2.816000	0.96949	0.563000	0.77884	CGG		0.602	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		15	49	0	0	0	0.008871	0	15	49				
COIL	8161	broad.mit.edu	37	17	55028031	55028031	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:55028031C>T	ENST00000240316.4	-	2	606	c.572G>A	c.(571-573)tGt>tAt	p.C191Y		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	191	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTATATTCACATTTCTCCTT	0.393																																							uc002iuu.2		NA																	0				ovary(1)	1						c.(571-573)TGT>TAT		coilin							151.0	140.0	143.0					17																	55028031		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028031C>T	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.572G>A	17.37:g.55028031C>T	ENSP00000240316:p.Cys191Tyr						p.C191Y	NM_004645	NP_004636	P38432	COIL_HUMAN			2	603	-	Breast(9;6.15e-08)		191			Lys-rich (basic).		B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.572G>A	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222657	0.39300	.	.	ENSG00000121058	ENST00000240316	T	0.76709	-1.04	5.32	-0.238	0.13055	.	1.095180	0.06620	N	0.757277	T	0.62221	0.2410	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.50381	-0.8835	10	0.46703	T	0.11	2.0321	3.3153	0.07031	0.2369:0.5075:0.1156:0.1399	.	191	P38432	COIL_HUMAN	Y	191	ENSP00000240316:C191Y	ENSP00000240316:C191Y	C	-	2	0	COIL	52383030	0.000000	0.05858	0.002000	0.10522	0.934000	0.57294	0.242000	0.18087	0.380000	0.24823	0.650000	0.86243	TGT		0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			34	50	0	0	0	0.003271	0	34	50				
ITGB4	3691	broad.mit.edu	37	17	73738716	73738716	+	Missense_Mutation	SNP	G	G	T	rs535052692		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:73738716G>T	ENST00000200181.3	+	25	3023	c.2836G>T	c.(2836-2838)Gtg>Ttg	p.V946L	ITGB4_ENST00000579662.1_Missense_Mutation_p.V946L|ITGB4_ENST00000449880.2_Missense_Mutation_p.V946L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.V946L|ITGB4_ENST00000339591.3_Missense_Mutation_p.V946L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	946					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACGTACGGGTGCCCCTCTT	0.687																																							uc002jpg.2		NA																	0				lung(4)	4						c.(2836-2838)GTG>TTG		integrin beta 4 isoform 1 precursor							85.0	65.0	72.0					17																	73738716		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73738716G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2836G>T	17.37:g.73738716G>T	ENSP00000200181:p.Val946Leu					ITGB4_uc002jph.2_Missense_Mutation_p.V946L|ITGB4_uc002jpi.3_Missense_Mutation_p.V946L|ITGB4_uc010dgp.1_Missense_Mutation_p.G958V|ITGB4_uc002jpj.2_Missense_Mutation_p.V946L	p.V946L	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	3023	+	all_cancers(13;1.5e-07)		946			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2836G>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379478	0.61845	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.78126	-1.15;-1.08;-1.08	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	D	0.83806	0.5334	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.994	D	0.85394	0.1127	10	0.87932	D	0	.	19.4284	0.94754	0.0:0.0:1.0:0.0	.	946;946;946	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	L	946	ENSP00000200181:V946L;ENSP00000344079:V946L;ENSP00000400217:V946L	ENSP00000200181:V946L	V	+	1	0	ITGB4	71250311	1.000000	0.71417	0.965000	0.40720	0.717000	0.41224	9.790000	0.99075	2.620000	0.88729	0.655000	0.94253	GTG		0.687	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			14	57	1	0	1.02788e-11	0.00499	1.37919e-11	14	57				
CSNK1D	1453	broad.mit.edu	37	17	80210968	80210968	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:80210968C>A	ENST00000314028.6	-	4	838	c.489G>T	c.(487-489)caG>caT	p.Q163H	CSNK1D_ENST00000398519.5_Missense_Mutation_p.Q163H|CSNK1D_ENST00000392334.2_Missense_Mutation_p.Q163H|CSNK1D_ENST00000578904.1_5'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			AGGGGATGTGCTGGTGGGTGC	0.602																																							uc002kej.2		NA																	0				breast(2)	2						c.(487-489)CAG>CAT		casein kinase 1, delta isoform 1							293.0	213.0	240.0					17																	80210968		2203	4300	6503	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80210968C>A		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.489G>T	17.37:g.80210968C>A	ENSP00000324464:p.Gln163His					SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.Q163H|CSNK1D_uc002kei.2_Missense_Mutation_p.Q163H|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_Missense_Mutation_p.Q28H|CSNK1D_uc010dim.1_5'Flank	p.Q163H	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		4	805	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		163			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.489G>T	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488585	0.44249	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	T;T	0.06687	3.27;3.27	5.64	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	M	0.82923	2.615	0.58432	D	0.999999	B;P;P	0.47910	0.089;0.799;0.902	B;P;P	0.55055	0.053;0.563;0.767	T	0.00918	-1.1515	10	0.62326	D	0.03	.	9.8304	0.40939	0.0:0.8286:0.0:0.1714	.	163;163;106	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	H	163;163;106;55	ENSP00000324464:Q163H;ENSP00000376146:Q163H	ENSP00000269361:Q55H	Q	-	3	2	CSNK1D	77804257	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.316000	0.51960	1.386000	0.46466	0.655000	0.94253	CAG		0.602	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		17	97	1	0	3.41278e-10	0.00499	4.43871e-10	17	97				
ARHGAP28	79822	broad.mit.edu	37	18	6873574	6873574	+	Splice_Site	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:6873574G>T	ENST00000383472.4	+	8	1224		c.e8+1		ARHGAP28_ENST00000418986.1_Splice_Site|ARHGAP28_ENST00000532996.1_Splice_Site|ARHGAP28_ENST00000400091.2_Splice_Site|ARHGAP28_ENST00000531294.1_Splice_Site|ARHGAP28_ENST00000314319.3_Splice_Site|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000262227.3_Splice_Site|ARHGAP28_ENST00000419673.2_Splice_Site			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AAAGGACGAGGTAACTAAGAA	0.358																																							uc010wzi.1		NA																	0				pancreas(1)	1						c.e7+1		SubName: Full=Putative uncharacterized protein ARHGAP28;							101.0	104.0	103.0					18																	6873574		2203	4300	6503	SO:0001630	splice_region_variant	79822				signal transduction	intracellular		g.chr18:6873574G>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1120+1G>T	18.37:g.6873574G>T						ARHGAP28_uc002knc.2_Splice_Site_p.D322_splice|ARHGAP28_uc002knd.2_Splice_Site_p.D215_splice|ARHGAP28_uc002kne.2_Splice_Site_p.D215_splice|ARHGAP28_uc002knf.2_Splice_Site_p.D206_splice	p.D197_splice			B4DXL2	B4DXL2_HUMAN			7	827	+		Colorectal(10;0.168)						A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Splice_Site	SNP	ENST00000383472.4	37	c.589_splice		.	.	.	.	.	.	.	.	.	.	G	17.76	3.469169	0.63625	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.224	0.93810	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP28	6863574	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.103000	0.77014	2.614000	0.88457	0.650000	0.86243	.		0.358	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	Intron	8	55	1	0	0.00621372	0.006214	0.00665307	8	55				
MC2R	4158	broad.mit.edu	37	18	13885199	13885199	+	Missense_Mutation	SNP	C	C	T	rs104894661		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:13885199C>T	ENST00000327606.3	-	2	499	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	107			D -> N (in GCCD1). {ECO:0000269|PubMed:8636348}.		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AACAGGGAGTCGATGATGTCA	0.498																																					Colon(141;1584 1782 35999 48227 48692)	Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5	GRCh37	CM960958	MC2R	M	rs104894661	c.(319-321)GAC>AAC		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						121.0	86.0	98.0					18																	13885199		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885199C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.319G>A	18.37:g.13885199C>T	ENSP00000333821:p.Asp107Asn						p.D107N	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	496	-			107		D -> N (in GCCD1).	Helical; Name=3; (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.319G>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964431	0.74131	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.36520	2.15;1.25	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.88640	2.97	0.51767	A	0.999935	D	0.89917	1.0	D	0.97110	1.0	T	0.75563	-0.3274	9	0.72032	D	0.01	.	18.0219	0.89257	0.0:1.0:0.0:0.0	.	107	Q01718	ACTHR_HUMAN	N	107	ENSP00000333821:D107N;ENSP00000382718:D107N	ENSP00000333821:D107N	D	-	1	0	MC2R	13875199	1.000000	0.71417	0.947000	0.38551	0.578000	0.36192	5.411000	0.66386	2.313000	0.78055	0.650000	0.86243	GAC		0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			9	51	0	0	0	0.006214	0	9	51				
CABYR	26256	broad.mit.edu	37	18	21736900	21736900	+	Missense_Mutation	SNP	C	C	A	rs376782122		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:21736900C>A	ENST00000399481.2	+	2	1293	c.1141C>A	c.(1141-1143)Ctt>Att	p.L381I	RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	479					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TCCAGAAGGCCTTACTGCACC	0.468																																							uc002kux.2		NA																	0					0						c.(1435-1437)CTT>ATT		calcium-binding tyrosine							46.0	48.0	47.0					18																	21736900		2201	4300	6501	SO:0001583	missense	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21736900C>A	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.1141C>A	18.37:g.21736900C>A	ENSP00000382404:p.Leu381Ile					CABYR_uc010xbb.1_Missense_Mutation_p.L381I|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.L461I|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA	p.L479I	NM_012189	NP_036321	O75952	CABYR_HUMAN			4	1587	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		479					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	ENST00000399481.2	37	c.1435C>A		.	.	.	.	.	.	.	.	.	.	C	8.135	0.783955	0.16189	.	.	ENSG00000154040	ENST00000399481	T	0.32515	1.45	5.09	4.22	0.49857	.	0.728857	0.12318	N	0.479547	T	0.28400	0.0702	L	0.29908	0.895	0.26518	N	0.974481	P;P	0.49961	0.93;0.884	P;B	0.47827	0.558;0.355	T	0.05500	-1.0881	9	.	.	.	-10.6276	9.3829	0.38325	0.0:0.9036:0.0:0.0964	.	461;479	O75952-2;O75952	.;CABYR_HUMAN	I	381	ENSP00000382404:L381I	.	L	+	1	0	CABYR	19990898	0.257000	0.24022	0.952000	0.39060	0.361000	0.29550	0.737000	0.26144	1.369000	0.46134	0.655000	0.94253	CTT		0.468	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770		14	26	1	0	6.31663e-08	0.003163	7.65214e-08	14	26				
SS18	6760	broad.mit.edu	37	18	23619334	23619334	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:23619334T>C	ENST00000415083.2	-	6	749	c.694A>G	c.(694-696)Atg>Gtg	p.M232V	SS18_ENST00000542743.1_Missense_Mutation_p.M180V|SS18_ENST00000542420.2_Missense_Mutation_p.M209V|SS18_ENST00000269137.7_Missense_Mutation_p.M232V|SS18_ENST00000539849.1_Missense_Mutation_p.M150V|SS18_ENST00000585241.1_5'Flank|SS18_ENST00000545952.1_Missense_Mutation_p.M180V	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	232	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATCATTCCCATAGGTGGCTGC	0.478			T	"""SSX1,  SSX2"""	synovial sarcoma																																		uc002kvm.2		NA		Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	0				soft_tissue(1883)|ovary(1)	1884						c.(694-696)ATG>GTG		synovial sarcoma translocation, chromosome 18							233.0	198.0	210.0					18																	23619334		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23619334T>C	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.694A>G	18.37:g.23619334T>C	ENSP00000414516:p.Met232Val					SS18_uc002kvn.2_Missense_Mutation_p.M232V|SS18_uc010xbf.1_Missense_Mutation_p.M150V|SS18_uc010xbg.1_Missense_Mutation_p.M180V|SS18_uc010xbh.1_Missense_Mutation_p.M180V|SS18_uc010xbi.1_Missense_Mutation_p.M209V|SS18_uc010dlz.1_Missense_Mutation_p.M180V	p.M232V	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			6	772	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		232			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.694A>G	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.448461	0.43429	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T;T	0.34472	1.36;1.54;1.51;1.51;1.48;1.51	5.55	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.56769	1.78	0.58432	D	0.999999	B;B;B	0.28258	0.001;0.001;0.205	B;B;B	0.20955	0.001;0.001;0.032	T	0.06197	-1.0840	10	0.13108	T	0.6	-2.6705	11.5993	0.50993	0.0:0.0699:0.0:0.9301	.	180;232;232	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	V	235;232;232;209;180;150;180	ENSP00000414516:M235V;ENSP00000269137:M232V;ENSP00000438066:M209V;ENSP00000444551:M180V;ENSP00000444647:M150V;ENSP00000443097:M180V	ENSP00000269137:M232V	M	-	1	0	SS18	21873332	1.000000	0.71417	0.968000	0.41197	0.963000	0.63663	7.655000	0.83696	1.048000	0.40298	0.533000	0.62120	ATG		0.478	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			40	110	0	0	0	0.006999	0	40	110				
SERPINB3	6317	broad.mit.edu	37	18	61328409	61328409	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:61328409G>A	ENST00000283752.5	-	2	185	c.42C>T	c.(40-42)gaC>gaT	p.D14D	SERPINB3_ENST00000332821.8_Silent_p.D14D|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	14					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTTGGAACAGGTCGAACATGA	0.433																																							uc002ljg.2		NA																	0				ovary(2)|lung(1)	3						c.(40-42)GAC>GAT		SubName: Full=Squamous cell carcinoma antigen 2;							332.0	291.0	305.0					18																	61328409		2203	4300	6503	SO:0001819	synonymous_variant	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328409G>A	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.42C>T	18.37:g.61328409G>A						SERPINB3_uc002lji.2_Silent_p.D14D|SERPINB3_uc010dqa.2_Silent_p.D14D|SERPINB3_uc010dqb.2_Silent_p.D14D|SERPINB3_uc010dqc.2_Silent_p.D14D	p.D14D			P48594	SPB4_HUMAN			1	68	-			14					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	ENST00000283752.5	37	c.42C>T	CCDS11987.1																																																																																				0.433	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		12	188	0	0	0	0.010729	0	12	188				
TUBB4A	10382	broad.mit.edu	37	19	6496074	6496074	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:6496074C>T	ENST00000264071.2	-	4	807	c.436G>A	c.(436-438)Gga>Aga	p.G146R	CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.G146R|TUBB4A_ENST00000601152.1_3'UTR|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	146					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GTGCCCATTCCGGACCCCGTG	0.637																																							uc002mfg.1		NA																	0				ovary(2)	2						c.(436-438)GGA>AGA		tubulin, beta 4							103.0	87.0	92.0					19																	6496074		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496074C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.436G>A	19.37:g.6496074C>T	ENSP00000264071:p.Gly146Arg					TUBB4_uc002mff.1_Missense_Mutation_p.G74R	p.G146R	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	543	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	146			GTP (Potential).		B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.436G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709141	0.48517	.	.	ENSG00000104833	ENST00000264071;ENST00000540257	D;D	0.92858	-3.12;-3.12	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000001	D	0.97639	0.9226	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99236	1.0883	10	0.87932	D	0	.	14.999	0.71455	0.0:1.0:0.0:0.0	.	146	P04350	TBB4A_HUMAN	R	146	ENSP00000264071:G146R;ENSP00000443590:G146R	ENSP00000264071:G146R	G	-	1	0	TUBB4	6447074	1.000000	0.71417	0.388000	0.26195	0.701000	0.40568	7.688000	0.84153	1.795000	0.52594	0.549000	0.68633	GGA		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		8	60	0	0	0	0.006214	0	8	60				
MUC16	94025	broad.mit.edu	37	19	9067611	9067611	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:9067611G>T	ENST00000397910.4	-	3	20038	c.19835C>A	c.(19834-19836)gCc>gAc	p.A6612D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6614	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGAGTAGGCTGGGACAGA	0.443																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19834-19836)GCC>GAC		mucin 16							215.0	195.0	201.0					19																	9067611		1940	4138	6078	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067611G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19835C>A	19.37:g.9067611G>T	ENSP00000381008:p.Ala6612Asp						p.A6612D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20039	-			6614			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19835C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.582	0.108193	0.08780	.	.	ENSG00000181143	ENST00000397910	T	0.25250	1.81	2.36	-3.38	0.04883	.	.	.	.	.	T	0.14917	0.0360	L	0.34521	1.04	.	.	.	B	0.27594	0.182	B	0.30179	0.112	T	0.36114	-0.9761	8	0.87932	D	0	.	0.3461	0.00341	0.2801:0.1993:0.3182:0.2023	.	6612	B5ME49	.	D	6612	ENSP00000381008:A6612D	ENSP00000381008:A6612D	A	-	2	0	MUC16	8928611	0.000000	0.05858	0.000000	0.03702	0.532000	0.34746	-2.167000	0.01271	-0.613000	0.05694	0.154000	0.16183	GCC		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	87	1	0	2.82306e-37	0.01441	4.53401e-37	49	87				
MUC16	94025	broad.mit.edu	37	19	9076071	9076071	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:9076071A>G	ENST00000397910.4	-	3	11578	c.11375T>C	c.(11374-11376)aTg>aCg	p.M3792T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3793	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCTTGCCATTGCAGCTGG	0.507																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(11374-11376)ATG>ACG		mucin 16							182.0	176.0	178.0					19																	9076071		2051	4212	6263	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076071A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11375T>C	19.37:g.9076071A>G	ENSP00000381008:p.Met3792Thr						p.M3792T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11579	-			3793			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11375T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.222	-0.378270	0.05000	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	1.93	1.93	0.25924	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	P	0.34977	0.478	B	0.38020	0.263	T	0.37619	-0.9698	8	0.87932	D	0	.	5.8931	0.18925	1.0:0.0:0.0:0.0	.	3792	B5ME49	.	T	3792	ENSP00000381008:M3792T	ENSP00000381008:M3792T	M	-	2	0	MUC16	8937071	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.002000	0.12924	1.145000	0.42336	0.260000	0.18958	ATG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		45	65	0	0	0	0.01441	0	45	65				
ZNF560	147741	broad.mit.edu	37	19	9580363	9580363	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:9580363G>T	ENST00000301480.4	-	8	685	c.472C>A	c.(472-474)Ctg>Atg	p.L158M		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	158	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAAGAGATCAGACTGGGTTTG	0.473																																							uc002mlp.1		NA																	0				skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(472-474)CTG>ATG		zinc finger protein 560							114.0	98.0	103.0					19																	9580363		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9580363G>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.472C>A	19.37:g.9580363G>T	ENSP00000301480:p.Leu158Met					ZNF560_uc010dwr.1_Missense_Mutation_p.L52M	p.L158M	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			8	682	-			158			KRAB 2.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.472C>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936349	0.52972	.	.	ENSG00000198028	ENST00000301480	T	0.00958	5.5	2.43	-0.376	0.12505	Krueppel-associated box (3);	.	.	.	.	T	0.02494	0.0076	L	0.49513	1.565	0.20703	N	0.999861	D	0.89917	1.0	D	0.69307	0.963	T	0.48864	-0.8997	9	0.46703	T	0.11	.	5.7252	0.18008	0.0:0.2107:0.5759:0.2134	.	158	Q96MR9	ZN560_HUMAN	M	158	ENSP00000301480:L158M	ENSP00000301480:L158M	L	-	1	2	ZNF560	9441363	0.001000	0.12720	0.276000	0.24689	0.967000	0.64934	-0.576000	0.05854	0.294000	0.22547	0.462000	0.41574	CTG		0.473	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		11	26	1	0	1.5842e-08	0.001855	1.96404e-08	11	26				
CHST8	64377	broad.mit.edu	37	19	34263626	34263626	+	Silent	SNP	C	C	T	rs571799934		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:34263626C>T	ENST00000262622.4	+	4	1691	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CHST8_ENST00000438847.3_Silent_p.F311F|CHST8_ENST00000434302.1_Silent_p.F311F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	311					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCCCGAGTTCGTCCAGTACC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17556	0.0		0.001	False		,,,				2504	0.0						uc002nus.3		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(931-933)TTC>TTT		carbohydrate (N-acetylgalactosamine 4-0)							56.0	49.0	51.0					19																	34263626		2203	4300	6503	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263626C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.933C>T	19.37:g.34263626C>T						CHST8_uc002nut.3_Silent_p.F311F|CHST8_uc002nuu.2_Silent_p.F311F	p.F311F	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1438	+	Esophageal squamous(110;0.162)		311			Lumenal (Potential).		Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.933C>T	CCDS12433.1																																																																																				0.652	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		5	47	0	0	0	0.001168	0	5	47				
ZNF585A	199704	broad.mit.edu	37	19	37646813	37646813	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:37646813C>T	ENST00000356958.4	-	4	504	c.246G>A	c.(244-246)aaG>aaA	p.K82K	ZNF585A_ENST00000392157.2_Silent_p.K27K|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000355533.2_Silent_p.K27K|ZNF585A_ENST00000292841.5_Silent_p.K27K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCATGGTTCCTTTCCTTGCT	0.527																																							uc002ofo.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(244-246)AAG>AAA		zinc finger protein 585A							176.0	140.0	152.0					19																	37646813		2203	4300	6503	SO:0001819	synonymous_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37646813C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.246G>A	19.37:g.37646813C>T						ZNF585A_uc002ofm.1_Silent_p.K27K|ZNF585A_uc002ofn.1_Silent_p.K27K	p.K82K	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	477	-			82			KRAB.		Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37	c.246G>A																																																																																					0.527	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		20	66	0	0	0	0.00278	0	20	66				
FCGBP	8857	broad.mit.edu	37	19	40357618	40357618	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:40357618C>T	ENST00000221347.6	-	34	15702	c.15695G>A	c.(15694-15696)cGt>cAt	p.R5232H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5232						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGAGACCACGGGTGGCCCA	0.627																																							uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15694-15696)CGT>CAT		Fc fragment of IgG binding protein precursor							91.0	71.0	78.0					19																	40357618		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40357618C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15695G>A	19.37:g.40357618C>T	ENSP00000221347:p.Arg5232His						p.R5232H	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15703	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5232					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15695G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790734	0.31685	.	.	ENSG00000090920	ENST00000221347	T	0.18960	2.18	4.45	-8.91	0.00778	Follistatin-like, N-terminal (1);von Willebrand factor, type D domain (1);	2.501090	0.02276	U	0.068887	T	0.12092	0.0294	L	0.36672	1.1	0.09310	N	1	B	0.25390	0.125	B	0.17722	0.019	T	0.12941	-1.0528	10	0.31617	T	0.26	.	2.977	0.05941	0.1102:0.4582:0.2474:0.1841	.	5232	Q9Y6R7	FCGBP_HUMAN	H	5232	ENSP00000221347:R5232H	ENSP00000221347:R5232H	R	-	2	0	FCGBP	45049458	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-3.701000	0.00389	-1.405000	0.02048	0.655000	0.94253	CGT		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		3	63	0	0	0	0.004672	0	3	63				
ZNF235	9310	broad.mit.edu	37	19	44792290	44792290	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:44792290C>T	ENST00000291182.4	-	5	1400	c.1298G>A	c.(1297-1299)tGt>tAt	p.C433Y	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	433					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)	p.C433Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ACAATCCCCACATTTATATGG	0.418																																							uc002oza.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1297-1299)TGT>TAT		zinc finger protein 93 homolog							88.0	88.0	88.0					19																	44792290		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792290C>T	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1298G>A	19.37:g.44792290C>T	ENSP00000291182:p.Cys433Tyr					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.C429Y|ZNF235_uc010xwx.1_Missense_Mutation_p.C347Y	p.C433Y	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	1401	-		Prostate(69;0.0352)|all_neural(266;0.116)	433			C2H2-type 6.		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1298G>A	CCDS33048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|C	16.46|16.46	3.129829|3.129829	0.56721|0.56721	.|.	.|.	ENSG00000159917|ENSG00000159917	ENST00000359844|ENST00000391957;ENST00000291182	.|D	.|0.85088	.|-1.94	4.37|4.37	4.37|4.37	0.52481|0.52481	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.46145	.|D	.|0.000311	.|D	.|0.95178	.|0.8437	H|H	0.97732|0.97732	4.065|4.065	0.43598|0.43598	D|D	0.995953|0.995953	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	.|D	.|0.96990	.|0.9721	.|10	.|0.87932	.|D	.|0	.|.	16.5558|16.5558	0.84484|0.84484	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|429;433	.|Q14590-2;Q14590	.|.;ZN235_HUMAN	.|Y	-1|433	.|ENSP00000291182:C433Y	.|ENSP00000291182:C433Y	.|C	-|-	.|2	.|0	ZNF235|ZNF235	49484130|49484130	1.000000|1.000000	0.71417|0.71417	0.096000|0.096000	0.21009|0.21009	0.916000|0.916000	0.54674|0.54674	4.582000|4.582000	0.60957|0.60957	2.385000|2.385000	0.81259|0.81259	0.462000|0.462000	0.41574|0.41574	.|TGT		0.418	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			18	58	0	0	0	0.007413	0	18	58				
CPT1C	126129	broad.mit.edu	37	19	50208359	50208359	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:50208359G>T	ENST00000392518.4	+	9	1239	c.867G>T	c.(865-867)caG>caT	p.Q289H	CPT1C_ENST00000598293.1_Missense_Mutation_p.Q289H|CPT1C_ENST00000405931.2_Missense_Mutation_p.Q278H|CPT1C_ENST00000354199.5_Missense_Mutation_p.Q289H|CPT1C_ENST00000323446.5_Missense_Mutation_p.Q289H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	289					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGAACCGCCAGGAGATACCCC	0.662																																							uc002ppj.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(865-867)CAG>CAT		carnitine palmitoyltransferase 1C isoform 2							57.0	60.0	59.0					19																	50208359		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208359G>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.867G>T	19.37:g.50208359G>T	ENSP00000376303:p.Gln289His					CPT1C_uc002ppl.3_Missense_Mutation_p.Q255H|CPT1C_uc002ppi.2_Missense_Mutation_p.Q206H|CPT1C_uc002ppk.2_Missense_Mutation_p.Q278H|CPT1C_uc010eng.2_Missense_Mutation_p.Q289H|CPT1C_uc010enh.2_Missense_Mutation_p.Q289H|CPT1C_uc010ybc.1_Missense_Mutation_p.Q127H|CPT1C_uc010eni.1_5'Flank	p.Q289H	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	8	1072	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	289			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.867G>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330755	0.41297	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57	4.34	3.31	0.37934	.	0.319457	0.22913	N	0.054108	D	0.88976	0.6584	L	0.35542	1.07	0.42244	D	0.991948	P;D;P;P	0.64830	0.89;0.994;0.717;0.951	P;P;B;D	0.64687	0.69;0.904;0.287;0.928	D	0.88238	0.2908	10	0.87932	D	0	-26.7452	8.1123	0.30922	0.1893:0.0:0.8107:0.0	.	127;289;278;289	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	H	289;289;278;289;127	ENSP00000376303:Q289H;ENSP00000346138:Q289H;ENSP00000384465:Q278H;ENSP00000319343:Q289H	ENSP00000295404:Q127H	Q	+	3	2	CPT1C	54900171	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	1.941000	0.40233	1.064000	0.40671	-0.224000	0.12420	CAG		0.662	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		17	55	1	0	1.78486e-19	0.007413	2.72224e-19	17	55				
SIGLEC6	946	broad.mit.edu	37	19	52033113	52033113	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:52033113G>T	ENST00000425629.3	-	5	1031	c.877C>A	c.(877-879)Ctg>Atg	p.L293M	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L241M|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L282M|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.L277M|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L293M|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L304M	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	293	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGGCGTTCAGGGCGGGGAAG	0.642																																							uc002pwy.2		NA																	0				ovary(1)	1						c.(877-879)CTG>ATG		sialic acid binding Ig-like lectin 6 isoform 1							61.0	70.0	67.0					19																	52033113		2197	4296	6493	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033113G>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.877C>A	19.37:g.52033113G>T	ENSP00000401502:p.Leu293Met					SIGLEC6_uc002pwz.2_Missense_Mutation_p.L277M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.L293M|SIGLEC6_uc010ydb.1_Missense_Mutation_p.L230M|SIGLEC6_uc010ydc.1_Missense_Mutation_p.L293M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.L271M|SIGLEC6_uc010epb.1_Missense_Mutation_p.L246M|SIGLEC6_uc010epa.1_Missense_Mutation_p.L282M	p.L293M	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	5	1039	-		all_neural(266;0.0199)	293			Ig-like C2-type 2.|Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.877C>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363866	0.41902	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	3.71	-3.3	0.05003	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.938870	0.03497	N	0.217556	T	0.79364	0.4433	M	0.74467	2.265	0.09310	N	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.994;0.994;1.0	D;D;D;D;D;D	0.87578	0.975;0.998;0.966;0.96;0.945;0.997	T	0.65611	-0.6126	10	0.72032	D	0.01	.	0.4528	0.00504	0.3512:0.1793:0.2876:0.1818	.	304;241;282;293;277;293	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	M	266;277;293;304;241;293	ENSP00000401502:L293M;ENSP00000353071:L304M;ENSP00000410679:L241M;ENSP00000345907:L293M	ENSP00000345907:L293M	L	-	1	2	SIGLEC6	56724925	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.135000	0.10420	-0.639000	0.05502	0.514000	0.50259	CTG		0.642	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		19	63	1	0	3.08376e-08	0.00333	3.77895e-08	19	63				
ZNF331	55422	broad.mit.edu	37	19	54080559	54080559	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:54080559G>A	ENST00000253144.9	+	7	2078	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	ZNF331_ENST00000512387.1_Missense_Mutation_p.G249R|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000411977.2_Missense_Mutation_p.G249R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G249R|ZNF331_ENST00000449416.1_Missense_Mutation_p.G249R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G249R|ZNF331_ENST00000511593.2_Missense_Mutation_p.G249R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CAAAGACTGTGGGAAGACCTT	0.458			T	?	follicular thyroid adenoma																																		uc002qbx.1		NA		Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(745-747)GGG>AGG		zinc finger protein 331							63.0	67.0	66.0					19																	54080559		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080559G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.745G>A	19.37:g.54080559G>A	ENSP00000253144:p.Gly249Arg					ZNF331_uc002qby.1_Missense_Mutation_p.G249R|ZNF331_uc002qbz.1_Missense_Mutation_p.G249R|ZNF331_uc002qca.1_Missense_Mutation_p.G249R|ZNF331_uc010eqr.1_Missense_Mutation_p.G249R|ZNF331_uc002qcb.1_Missense_Mutation_p.G249R|ZNF331_uc002qcc.1_Missense_Mutation_p.G249R|ZNF331_uc002qcd.1_Missense_Mutation_p.G249R	p.G249R	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2179	+			249			C2H2-type 5.		Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.745G>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795135	0.70452	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.221220	0.23017	N	0.052892	T	0.28962	0.0719	M	0.88031	2.925	0.34036	D	0.654375	D	0.67145	0.996	P	0.58928	0.848	T	0.54990	-0.8210	10	0.87932	D	0	.	13.245	0.60018	0.0:0.0:1.0:0.0	.	249	Q9NQX6	ZN331_HUMAN	R	249	ENSP00000253144:G249R;ENSP00000427439:G249R;ENSP00000393817:G249R;ENSP00000393336:G249R;ENSP00000421014:G249R;ENSP00000423156:G249R;ENSP00000421728:G249R	ENSP00000253144:G249R	G	+	1	0	ZNF331	58772371	1.000000	0.71417	0.985000	0.45067	0.699000	0.40488	4.875000	0.63072	2.049000	0.60858	0.563000	0.77884	GGG		0.458	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		25	56	0	0	0	0.007291	0	25	56				
ALK	238	broad.mit.edu	37	2	29543738	29543738	+	Silent	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:29543738A>T	ENST00000389048.3	-	7	2331	c.1425T>A	c.(1423-1425)ccT>ccA	p.P475P	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'Flank	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	475					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AAAAACCCACAGGCAGTTTCC	0.502			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1423-1425)CCT>CCA		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						163.0	151.0	155.0					2																	29543738		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29543738A>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1425T>A	2.37:g.29543738A>T							p.P475P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			7	2332	-	Acute lymphoblastic leukemia(172;0.155)		475			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.1425T>A	CCDS33172.1																																																																																				0.502	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		11	74	0	0	0	0.013537	0	11	74				
VRK2	7444	broad.mit.edu	37	2	58313494	58313494	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:58313494A>G	ENST00000435505.2	+	8	1022	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E	VRK2_ENST00000440705.2_Missense_Mutation_p.K70E|VRK2_ENST00000340157.4_Missense_Mutation_p.K93E|VRK2_ENST00000417641.2_Missense_Mutation_p.K93E|VRK2_ENST00000412104.2_Missense_Mutation_p.K93E			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GATAGAACGCAAACAACTTGA	0.274																																							uc002rzo.2		NA																	0				ovary(1)	1						c.(277-279)AAA>GAA		vaccinia related kinase 2 isoform 2							108.0	121.0	117.0					2																	58313494		2203	4294	6497	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58313494A>G	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.277A>G	2.37:g.58313494A>G	ENSP00000408002:p.Lys93Glu					VRK2_uc010fcb.2_Missense_Mutation_p.K93E|VRK2_uc002rzs.2_Missense_Mutation_p.K93E|VRK2_uc002rzr.2_Missense_Mutation_p.K93E|VRK2_uc010fcc.2_5'UTR|VRK2_uc002rzv.2_Missense_Mutation_p.K93E|VRK2_uc010fcd.2_Missense_Mutation_p.K70E|VRK2_uc002rzp.2_Missense_Mutation_p.K93E|VRK2_uc010ypg.1_Missense_Mutation_p.K93E|VRK2_uc002rzq.2_Missense_Mutation_p.K93E|VRK2_uc002rzu.2_Missense_Mutation_p.K93E|VRK2_uc002rzt.2_5'UTR|VRK2_uc010yph.1_5'UTR	p.K93E	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			8	1022	+			93			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.277A>G	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.213631	0.58452	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.186565	0.56097	D	0.000023	T	0.40171	0.1106	L	0.59967	1.855	0.41178	D	0.986212	P;B;P	0.40050	0.7;0.397;0.682	B;B;B	0.35688	0.155;0.139;0.208	T	0.43212	-0.9405	10	0.52906	T	0.07	-19.5737	14.5704	0.68208	1.0:0.0:0.0:0.0	.	93;93;93	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	E	93;93;97;93;93;93;70	ENSP00000408002:K93E;ENSP00000402375:K93E;ENSP00000404156:K93E;ENSP00000342381:K93E;ENSP00000398323:K70E	ENSP00000342381:K93E	K	+	1	0	VRK2	58166998	0.997000	0.39634	0.286000	0.24833	0.958000	0.62258	4.827000	0.62723	2.133000	0.65898	0.477000	0.44152	AAA		0.274	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		15	90	0	0	0	0.00499	0	15	90				
GPR45	11250	broad.mit.edu	37	2	105858376	105858376	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:105858376G>A	ENST00000258456.1	+	1	177	c.61G>A	c.(61-63)Gcc>Acc	p.A21T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CACCAGCAACGCCTCAGACTC	0.602																																							uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(61-63)GCC>ACC		G protein-coupled receptor 45							98.0	93.0	94.0					2																	105858376		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858376G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.61G>A	2.37:g.105858376G>A	ENSP00000258456:p.Ala21Thr						p.A21T	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	177	+			21			Extracellular (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.61G>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	0.142	-1.101528	0.01828	.	.	ENSG00000135973	ENST00000258456	T	0.72942	-0.7	5.6	1.51	0.23008	.	1.542880	0.04170	N	0.324622	T	0.49643	0.1569	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32322	-0.9911	10	0.15499	T	0.54	-4.1461	7.7192	0.28723	0.1679:0.3505:0.4816:0.0	.	21	Q9Y5Y3	GPR45_HUMAN	T	21	ENSP00000258456:A21T	ENSP00000258456:A21T	A	+	1	0	GPR45	105224808	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.387000	0.20718	0.283000	0.22279	0.462000	0.41574	GCC		0.602	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		39	83	0	0	0	0.01441	0	39	83				
THSD7B	80731	broad.mit.edu	37	2	137814416	137814416	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:137814416C>A	ENST00000409968.1	+	3	744	c.566C>A	c.(565-567)tCc>tAc	p.S189Y	THSD7B_ENST00000413152.2_Missense_Mutation_p.S158Y|THSD7B_ENST00000543459.1_Missense_Mutation_p.S48Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.S189Y			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	189	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTACCATGGTCCAACTGTAGC	0.488																																							uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(472-474)TCC>TAC		thrombospondin, type I, domain containing 7B							210.0	207.0	208.0					2																	137814416		1980	4153	6133	SO:0001583	missense	80731							g.chr2:137814416C>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.566C>A	2.37:g.137814416C>A	ENSP00000387145:p.Ser189Tyr					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.S48Y	p.S158Y	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	473	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.473C>A		.	.	.	.	.	.	.	.	.	.	C	22.6	4.314387	0.81358	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.86940	0.6054	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89839	0.4001	10	0.87932	D	0	.	20.2476	0.98400	0.0:1.0:0.0:0.0	.	189;158	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Y	189;189;158;48	ENSP00000387145:S189Y;ENSP00000272643:S189Y;ENSP00000413841:S158Y;ENSP00000443370:S48Y	ENSP00000272643:S189Y	S	+	2	0	THSD7B	137530886	1.000000	0.71417	0.979000	0.43373	0.597000	0.36814	7.818000	0.86416	2.890000	0.99128	0.585000	0.79938	TCC		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		71	228	1	0	1.91593e-42	0.01441	3.10059e-42	71	228				
CCDC148	130940	broad.mit.edu	37	2	159196795	159196795	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:159196795G>A	ENST00000283233.5	-	5	758	c.445C>T	c.(445-447)Cac>Tac	p.H149Y	CCDC148_ENST00000409889.1_Missense_Mutation_p.H149Y|CCDC148_ENST00000409187.1_Missense_Mutation_p.H158Y|CCDC148_ENST00000536771.1_Missense_Mutation_p.H63Y	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	149										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATATGTGGGTGTGAATGCTGC	0.338																																							uc002tzq.2		NA																	0				ovary(2)	2						c.(445-447)CAC>TAC		coiled-coil domain containing 148							142.0	135.0	138.0					2																	159196795		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159196795G>A		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.445C>T	2.37:g.159196795G>A	ENSP00000283233:p.His149Tyr					CCDC148_uc002tzr.2_Intron|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Missense_Mutation_p.H96Y|CCDC148_uc010foj.1_Intron|CCDC148_uc010fok.1_Missense_Mutation_p.H63Y|CCDC148_uc002tzs.1_Missense_Mutation_p.H149Y	p.H149Y	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			5	708	-			149					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.445C>T	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	G	8.269	0.812961	0.16537	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000536771;ENST00000409889	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.81	-0.484	0.12071	.	.	.	.	.	T	0.19967	0.0480	L	0.31294	0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.29088	-1.0023	9	0.02654	T	1	0.5517	1.5272	0.02528	0.3152:0.1524:0.4025:0.13	.	63;149	F5H839;Q8NFR7	.;CC148_HUMAN	Y	149;158;63;149	ENSP00000283233:H149Y;ENSP00000386674:H158Y;ENSP00000443740:H63Y;ENSP00000386583:H149Y	ENSP00000283233:H149Y	H	-	1	0	CCDC148	158905041	0.000000	0.05858	0.021000	0.16686	0.187000	0.23431	0.366000	0.20365	0.065000	0.16485	0.655000	0.94253	CAC		0.338	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		3	88	0	0	0	0.004672	0	3	88				
BAZ2B	29994	broad.mit.edu	37	2	160241699	160241699	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:160241699A>T	ENST00000392783.2	-	23	4148	c.3653T>A	c.(3652-3654)aTc>aAc	p.I1218N	BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1184N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1118N|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1182N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAGTTCATTGATCAGGAAAGC	0.438																																							uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(3652-3654)ATC>AAC		bromodomain adjacent to zinc finger domain, 2B							136.0	133.0	134.0					2																	160241699		1904	4137	6041	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160241699A>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3653T>A	2.37:g.160241699A>T	ENSP00000376534:p.Ile1218Asn					BAZ2B_uc002uap.2_Missense_Mutation_p.I1182N	p.I1218N	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			23	4005	-			1218					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3653T>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954389	0.73902	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.59638	0.35;0.32;0.35;0.25	5.75	4.6	0.57074	.	0.205916	0.23459	U	0.047957	T	0.47322	0.1439	N	0.08118	0	0.27627	N	0.948155	B;D	0.59357	0.374;0.985	B;P	0.52109	0.157;0.69	T	0.46610	-0.9179	10	0.87932	D	0	-1.5311	11.4527	0.50162	0.9299:0.0:0.0701:0.0	.	1182;1218	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	N	1182;1218;1184;1118	ENSP00000376533:I1182N;ENSP00000376534:I1218N;ENSP00000348087:I1184N;ENSP00000339670:I1118N	ENSP00000339670:I1118N	I	-	2	0	BAZ2B	159949945	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.671000	0.54576	1.018000	0.39521	0.533000	0.62120	ATC		0.438	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			18	133	0	0	0	0.00278	0	18	133				
G6PC2	57818	broad.mit.edu	37	2	169764282	169764282	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:169764282C>T	ENST00000375363.3	+	5	853	c.761C>T	c.(760-762)aCg>aTg	p.T254M	G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	254					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ATTGACACCACGCCTTTTGCT	0.522																																							uc002uem.2		NA																	0				pancreas(1)	1						c.(760-762)ACG>ATG		islet-specific glucose-6-phosphatase-related							116.0	107.0	110.0					2																	169764282		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764282C>T	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.761C>T	2.37:g.169764282C>T	ENSP00000364512:p.Thr254Met					G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.T138M	p.T254M	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN			5	853	+			254			Lumenal (Potential).		E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.761C>T	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887759	0.91814	.	.	ENSG00000152254	ENST00000375363	T	0.77358	-1.09	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	D	0.89319	0.6681	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89715	0.3915	10	0.72032	D	0.01	-15.4959	19.9584	0.97232	0.0:1.0:0.0:0.0	.	254	Q9NQR9	G6PC2_HUMAN	M	254	ENSP00000364512:T254M	ENSP00000364512:T254M	T	+	2	0	G6PC2	169472528	1.000000	0.71417	0.963000	0.40424	0.975000	0.68041	5.956000	0.70315	2.717000	0.92951	0.655000	0.94253	ACG		0.522	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		17	46	0	0	0	0.004007	0	17	46				
DLX1	1745	broad.mit.edu	37	2	172951500	172951500	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:172951500C>T	ENST00000361725.4	+	2	884	c.432C>T	c.(430-432)aaC>aaT	p.N144N	DLX1_ENST00000341900.6_Intron	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	144					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AGGCTTTGAACCGGAGGTTCC	0.572																																							uc002uhl.2		NA																	0					0						c.(430-432)AAC>AAT		distal-less homeobox 1 isoform 1							147.0	158.0	154.0					2																	172951500		2203	4300	6503	SO:0001819	synonymous_variant	1745					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172951500C>T	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"""Homeoboxes / ANTP class : NKL subclass"""	2914	protein-coding gene	gene with protein product		600029	"""distal-less homeo box 1"""			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.432C>T	2.37:g.172951500C>T						DLX1_uc010fqj.1_Silent_p.N144N|DLX1_uc002uhm.2_Intron	p.N144N	NM_178120	NP_835221	P56177	DLX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		2	630	+			144			Homeobox.		D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Silent	SNP	ENST00000361725.4	37	c.432C>T	CCDS2247.2																																																																																				0.572	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405916.1	XM_087198		52	152	0	0	0	0.01441	0	52	152				
TTN	7273	broad.mit.edu	37	2	179667046	179667046	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:179667046G>A	ENST00000591111.1	-	3	338	c.114C>T	c.(112-114)agC>agT	p.S38S	TTN_ENST00000342992.6_Silent_p.S38S|TTN_ENST00000360870.5_Silent_p.S38S|TTN_ENST00000342175.6_Silent_p.S38S|TTN_ENST00000359218.5_Silent_p.S38S|TTN_ENST00000460472.2_Silent_p.S38S|TTN_ENST00000589042.1_Silent_p.S38S			Q8WZ42	TITIN_HUMAN	titin	32649	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTAAACCAGCTCACCTCAG	0.522																																							uc002und.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(112-114)AGC>AGT		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							72.0	61.0	64.0					2																	179667046		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179667046G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.114C>T	2.37:g.179667046G>A						TTN_uc010zfg.1_Silent_p.S38S|TTN_uc010zfh.1_Silent_p.S38S|TTN_uc010zfi.1_Silent_p.S38S|TTN_uc010zfj.1_Silent_p.S38S|TTN_uc002unb.2_Silent_p.S38S	p.S38S			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		3	339	-			38					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.114C>T																																																																																					0.522	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	11	0	0	0	0.009096	0	4	11				
PDE1A	5136	broad.mit.edu	37	2	183387015	183387015	+	Missense_Mutation	SNP	C	C	A	rs137961386	byFrequency	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:183387015C>A	ENST00000410103.1	-	2	172	c.89G>T	c.(88-90)cGc>cTc	p.R30L	PDE1A_ENST00000456212.1_Missense_Mutation_p.R30L|PDE1A_ENST00000331935.6_Missense_Mutation_p.R30L|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000435564.1_Missense_Mutation_p.R30L|PDE1A_ENST00000358139.2_Missense_Mutation_p.R30L	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	30	Calmodulin-binding. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCCTTTCAGGCGCTGCCACAT	0.418																																							uc002uos.2		NA																	0				skin(2)|ovary(1)	3						c.(88-90)CGC>CTC		phosphodiesterase 1A isoform 2							130.0	130.0	130.0					2																	183387015		2202	4300	6502	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183387015C>A		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.89G>T	2.37:g.183387015C>A	ENSP00000387037:p.Arg30Leu					PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R30L|PDE1A_uc010zfq.1_Missense_Mutation_p.R30L|PDE1A_uc002uov.1_RNA	p.R30L	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		2	173	-			30			Calmodulin-binding (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.89G>T	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518988	0.64634	.	.	ENSG00000115252	ENST00000435564;ENST00000331935;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T	0.72505	-0.66;-0.66;-0.65;-0.65;-0.66	5.73	4.67	0.58626	.	0.501527	0.21396	N	0.075229	T	0.63581	0.2523	N	0.25201	0.72	0.80722	D	1	B;P	0.37824	0.271;0.609	B;B	0.43478	0.241;0.421	T	0.65619	-0.6124	10	0.48119	T	0.1	.	14.7116	0.69238	0.0:0.9182:0.0:0.0818	.	30;30	P54750;P54750-4	PDE1A_HUMAN;.	L	30	ENSP00000410309:R30L;ENSP00000331574:R30L;ENSP00000387037:R30L;ENSP00000350858:R30L;ENSP00000408874:R30L	ENSP00000331574:R30L	R	-	2	0	PDE1A	183095260	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.753000	0.55180	2.714000	0.92807	0.591000	0.81541	CGC		0.418	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			7	34	1	0	0.000157383	0.00308	0.000176536	7	34				
ATG16L1	55054	broad.mit.edu	37	2	234178672	234178672	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:234178672A>T	ENST00000392017.4	+	6	923	c.666A>T	c.(664-666)aaA>aaT	p.K222N	ATG16L1_ENST00000392020.4_Missense_Mutation_p.K222N|ATG16L1_ENST00000373525.5_Missense_Mutation_p.K78N|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392018.1_Missense_Mutation_p.K222N|ATG16L1_ENST00000347464.5_Missense_Mutation_p.K78N	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	222	WIPI2-binding. {ECO:0000269|PubMed:24954904}.				autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GGCTGCAGAAAGAGCTTGCAG	0.428																																							uc002vty.2		NA																	0					0						c.(664-666)AAA>AAT		APG16 autophagy 16-like isoform 1							76.0	90.0	85.0					2																	234178672		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234178672A>T	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.666A>T	2.37:g.234178672A>T	ENSP00000375872:p.Lys222Asn					ATG16L1_uc002vtx.1_Missense_Mutation_p.K78N|ATG16L1_uc002vua.2_Missense_Mutation_p.K222N|ATG16L1_uc002vub.2_Missense_Mutation_p.K99N|ATG16L1_uc002vtz.2_Missense_Mutation_p.K78N|ATG16L1_uc002vud.3_Missense_Mutation_p.K138N	p.K222N	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	6	923	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	222			Potential.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.666A>T	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497140	0.85069	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000444735;ENST00000373525;ENST00000419681;ENST00000417017;ENST00000392020;ENST00000392018	T;T;T;T;T;T;T	0.55413	0.63;0.65;0.52;0.58;1.26;0.62;0.6	5.93	-6.23	0.02052	.	0.000000	0.64402	U	0.000007	T	0.68897	0.3051	M	0.77103	2.36	0.54753	D	0.999988	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.917;0.999;0.986;0.959;0.999	T	0.75419	-0.3324	10	0.66056	D	0.02	.	19.2425	0.93889	0.35:0.0:0.65:0.0	.	195;222;78;222;78	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	N	222;78;78;78;78;138;222;222	ENSP00000375872:K222N;ENSP00000318259:K78N;ENSP00000409215:K78N;ENSP00000362625:K78N;ENSP00000398773:K78N;ENSP00000375875:K222N;ENSP00000375873:K222N	ENSP00000318259:K78N	K	+	3	2	ATG16L1	233843411	0.954000	0.32549	0.911000	0.35937	0.981000	0.71138	0.044000	0.13992	-1.085000	0.03088	0.459000	0.35465	AAA		0.428	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		19	40	0	0	0	0.012319	0	19	40				
SYNDIG1	79953	broad.mit.edu	37	20	24524042	24524042	+	Silent	SNP	G	G	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr20:24524042G>C	ENST00000376862.3	+	2	942	c.309G>C	c.(307-309)ggG>ggC	p.G103G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	103					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCTCCTGGGGGGACGGTGTGG	0.632																																							uc002wtw.1		NA																	0					0						c.(307-309)GGG>GGC		transmembrane protein 90B							61.0	62.0	62.0					20																	24524042		2203	4300	6503	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524042G>C	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.309G>C	20.37:g.24524042G>C							p.G103G	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	942	+			103			Cytoplasmic (Potential).		Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.309G>C	CCDS13164.1																																																																																				0.632	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		22	84	0	0	0	0.003954	0	22	84				
NFATC2	4773	broad.mit.edu	37	20	50139803	50139803	+	Missense_Mutation	SNP	C	C	A	rs145325613		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr20:50139803C>A	ENST00000396009.3	-	2	1196	c.977G>T	c.(976-978)aGc>aTc	p.S326I	NFATC2_ENST00000414705.1_Missense_Mutation_p.S306I|NFATC2_ENST00000609507.1_Missense_Mutation_p.S107I|NFATC2_ENST00000371564.3_Missense_Mutation_p.S326I|NFATC2_ENST00000609943.1_Missense_Mutation_p.S306I|NFATC2_ENST00000610033.1_Missense_Mutation_p.S107I	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	326					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 transcription factor activity (GO:0003700)	p.S326N(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGGTCAGGGCTGGTCTTCCA	0.692																																							uc002xwd.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)	2						c.(976-978)AGC>ATC		nuclear factor of activated T-cells,							23.0	31.0	28.0					20																	50139803		2198	4293	6491	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139803C>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.977G>T	20.37:g.50139803C>A	ENSP00000379330:p.Ser326Ile					NFATC2_uc002xwc.2_Missense_Mutation_p.S326I|NFATC2_uc010zyv.1_Missense_Mutation_p.S107I|NFATC2_uc010zyw.1_Missense_Mutation_p.S107I|NFATC2_uc010zyx.1_Missense_Mutation_p.S306I|NFATC2_uc010zyy.1_Missense_Mutation_p.S107I|NFATC2_uc010zyz.1_Missense_Mutation_p.S107I|NFATC2_uc002xwe.2_Missense_Mutation_p.S306I	p.S326I	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	1197	-	Hepatocellular(150;0.248)		326					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.977G>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736410	0.69189	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.17370	2.28;2.28;2.3	5.67	5.67	0.87782	.	0.148741	0.64402	D	0.000009	T	0.44808	0.1311	M	0.72118	2.19	0.38467	D	0.947373	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.79784	0.94;0.993;0.94;0.94	T	0.43360	-0.9396	10	0.87932	D	0	-24.1696	19.7746	0.96386	0.0:1.0:0.0:0.0	.	306;306;326;326	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	I	326;326;107;306	ENSP00000360619:S326I;ENSP00000379330:S326I;ENSP00000396471:S306I	ENSP00000360619:S326I	S	-	2	0	NFATC2	49573210	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	5.119000	0.64679	2.680000	0.91292	0.305000	0.20034	AGC		0.692	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		17	37	1	0	5.03518e-11	0.007413	6.67162e-11	17	37				
CSTF1	1477	broad.mit.edu	37	20	54972262	54972262	+	Splice_Site	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr20:54972262G>T	ENST00000217109.4	+	3	521		c.e3-1		CSTF1_ENST00000493039.1_Splice_Site	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			ATTTCTTTCAGGAATGGAAAA	0.403																																							uc002xxl.1		NA																	0				central_nervous_system(1)	1						c.e3-1		cleavage stimulation factor subunit 1							88.0	86.0	87.0					20																	54972262		2203	4300	6503	SO:0001630	splice_region_variant	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54972262G>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.170-1G>T	20.37:g.54972262G>T						CSTF1_uc002xxm.1_Splice_Site_p.G57_splice|CSTF1_uc002xxn.1_Splice_Site_p.G57_splice|CSTF1_uc002xxo.1_Splice_Site	p.G57_splice	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		3	370	+								Q5QPD8	Splice_Site	SNP	ENST00000217109.4	37	c.170_splice	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071632	0.76301	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000428552;ENST00000425890;ENST00000452950	.	.	.	6.06	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5305	0.75956	0.0661:0.0:0.9339:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSTF1	54405669	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.624000	0.98398	1.575000	0.49775	0.655000	0.94253	.		0.403	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521	Intron	18	43	1	0	3.51602e-12	0.008871	4.809e-12	18	43				
DIDO1	11083	broad.mit.edu	37	20	61511164	61511164	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2048					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGAGAGCGCGGAGGGCGGCC	0.721																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(6142-6144)TCC>TCT		death inducer-obliterator 1 isoform c							36.0	44.0	41.0					20																	61511164		2010	3928	5938	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511164G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6144C>T	20.37:g.61511164G>A						DIDO1_uc002yds.1_Silent_p.S2048S	p.S2048S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	6408	-	Breast(26;5.68e-08)		2048					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.6144C>T	CCDS33506.1																																																																																				0.721	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		19	43	0	0	0	0.007413	0	19	43				
KRTAP21-2	337978	broad.mit.edu	37	21	32119349	32119349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr21:32119349C>A	ENST00000333892.2	-	1	202	c.172G>T	c.(172-174)Gga>Tga	p.G58*		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	58						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						cagccatatccacagccagag	0.507																																							uc011adh.1		NA																	0					0						c.(172-174)GGA>TGA		keratin associated protein 21-2							120.0	100.0	107.0					21																	32119349		2203	4300	6503	SO:0001587	stop_gained	337978					intermediate filament		g.chr21:32119349C>A	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"""Keratin associated proteins"""	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.172G>T	21.37:g.32119349C>A	ENSP00000334287:p.Gly58*						p.G58*	NM_181617	NP_853648	Q3LI59	KR212_HUMAN			1	172	-			58						Nonsense_Mutation	SNP	ENST00000333892.2	37	c.172G>T	CCDS13605.1	.	.	.	.	.	.	.	.	.	.	G	3.806	-0.040745	0.07452	.	.	ENSG00000187026	ENST00000333892	.	.	.	3.29	0.227	0.15359	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3573	0.07173	0.2002:0.5589:0.0:0.241	.	.	.	.	X	58	.	ENSP00000334287:G58X	G	-	1	0	KRTAP21-2	31041220	0.107000	0.21998	0.000000	0.03702	0.001000	0.01503	0.919000	0.28692	-0.229000	0.09854	-0.225000	0.12378	GGA		0.507	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			18	52	1	0	1.33834e-09	0.007413	1.7092e-09	18	52				
MN1	4330	broad.mit.edu	37	22	28194031	28194031	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr22:28194031T>C	ENST00000302326.4	-	1	3455	c.2501A>G	c.(2500-2502)aAc>aGc	p.N834S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	834					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						GGCGATCATGTTCTGGCAAGC	0.617			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.(2500-2502)AAC>AGC		meningioma  1							62.0	71.0	68.0					22																	28194031		1950	4134	6084	SO:0001583	missense	4330						binding	g.chr22:28194031T>C	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.2501A>G	22.37:g.28194031T>C	ENSP00000304956:p.Asn834Ser						p.N834S	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	3456	-			834					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.2501A>G	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529263	0.64860	.	.	ENSG00000169184	ENST00000302326	T	0.59502	0.26	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	L	0.29908	0.895	0.44417	D	0.997332	D	0.67145	0.996	D	0.77557	0.99	T	0.63528	-0.6617	10	0.49607	T	0.09	-17.6116	11.4387	0.50083	0.0:0.0:0.0:1.0	.	834	Q10571	MN1_HUMAN	S	834	ENSP00000304956:N834S	ENSP00000304956:N834S	N	-	2	0	MN1	26524031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.021000	0.64072	1.567000	0.49668	0.379000	0.24179	AAC		0.617	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		33	83	0	0	0	0.003271	0	33	83				
RASD2	23551	broad.mit.edu	37	22	35943106	35943106	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr22:35943106C>A	ENST00000216127.4	+	2	892	c.250C>A	c.(250-252)Cgc>Agc	p.R84S		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	84					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CCCCGCCATGCGCAGGCTGTC	0.637																																							uc003anx.2		NA																	0				lung(2)|skin(1)	3						c.(250-252)CGC>AGC		RASD family, member 2 precursor							83.0	68.0	73.0					22																	35943106		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35943106C>A	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.250C>A	22.37:g.35943106C>A	ENSP00000216127:p.Arg84Ser					RASD2_uc003any.2_Missense_Mutation_p.R84S	p.R84S	NM_014310	NP_055125	Q96D21	RHES_HUMAN			2	455	+			84					O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.250C>A	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356370	0.82243	.	.	ENSG00000100302	ENST00000216127	T	0.71698	-0.59	5.3	2.99	0.34606	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80859	0.4704	M	0.72576	2.205	0.45607	D	0.998544	D	0.65815	0.995	D	0.70016	0.967	T	0.82853	-0.0252	10	0.87932	D	0	.	12.4505	0.55675	0.3584:0.6416:0.0:0.0	.	84	Q96D21	RHES_HUMAN	S	84	ENSP00000216127:R84S	ENSP00000216127:R84S	R	+	1	0	RASD2	34273052	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.574000	0.53863	2.499000	0.84300	0.558000	0.71614	CGC		0.637	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		24	66	1	0	1.836e-18	0.003755	2.76051e-18	24	66				
ULK4	54986	broad.mit.edu	37	3	41953070	41953070	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:41953070G>T	ENST00000301831.4	-	10	1440	c.978C>A	c.(976-978)caC>caA	p.H326Q	ULK4_ENST00000420927.1_Missense_Mutation_p.H326Q	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	326					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GACCACTCTTGTGCCCTTTTG	0.408																																							uc003ckv.3		NA																	0					0						c.(976-978)CAC>CAA		unc-51-like kinase 4							145.0	136.0	139.0					3																	41953070		1880	4108	5988	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41953070G>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.978C>A	3.37:g.41953070G>T	ENSP00000301831:p.His326Gln					ULK4_uc003ckw.2_Missense_Mutation_p.H326Q|ULK4_uc003ckx.1_Missense_Mutation_p.H326Q	p.H326Q	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	10	1179	-			326					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.978C>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	2.446	-0.327496	0.05314	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.64803	0.71;-0.12	4.56	1.58	0.23477	.	1.185640	0.06232	N	0.688880	T	0.44644	0.1303	N	0.12182	0.205	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18903	-1.0322	10	0.13470	T	0.59	.	13.0614	0.59010	0.0:0.4993:0.5007:0.0	.	326;326	B4E2M4;Q96C45	.;ULK4_HUMAN	Q	326	ENSP00000301831:H326Q;ENSP00000412187:H326Q	ENSP00000301831:H326Q	H	-	3	2	ULK4	41928074	0.000000	0.05858	0.005000	0.12908	0.054000	0.15201	-0.508000	0.06344	0.013000	0.14918	-0.321000	0.08615	CAC		0.408	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		5	34	1	0	3.59834e-05	0.001168	4.14591e-05	5	34				
RNF123	63891	broad.mit.edu	37	3	49758482	49758482	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:49758482C>G	ENST00000327697.6	+	38	3912	c.3768C>G	c.(3766-3768)atC>atG	p.I1256M	AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.I368M|GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000480687.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1256					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)		TCTGCCCCATCTGCTATGCCC	0.607																																							uc003cxh.2		NA																	0				kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(3766-3768)ATC>ATG		ring finger protein 123							103.0	84.0	90.0					3																	49758482		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49758482C>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.3768C>G	3.37:g.49758482C>G	ENSP00000328287:p.Ile1256Met					RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	p.I1256M	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)	38	3854	+			1256			RING-type.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.3768C>G	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176879	0.78564	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.80738	-1.41;-1.41	4.39	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.347042	0.32624	N	0.005854	D	0.92851	0.7726	H	0.95950	3.745	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.95084	0.8216	10	0.87932	D	0	-27.8044	16.4983	0.84251	0.0:1.0:0.0:0.0	.	1256	Q5XPI4	RN123_HUMAN	M	1256;1256;368	ENSP00000328287:I1256M;ENSP00000416156:I368M	ENSP00000328287:I1256M	I	+	3	3	RNF123	49733486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.462000	0.66707	2.440000	0.82611	0.655000	0.94253	ATC		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		5	67	0	0	0	0.001168	0	5	67				
ADAMTS9	56999	broad.mit.edu	37	3	64587701	64587701	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:64587701C>G	ENST00000498707.1	-	26	4278	c.3936G>C	c.(3934-3936)gaG>gaC	p.E1312D	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1284D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1312					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GACGATAGTCCTCATTTTGGA	0.572																																							uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(3934-3936)GAG>GAC		ADAM metallopeptidase with thrombospondin type 1							122.0	120.0	121.0					3																	64587701		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64587701C>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3936G>C	3.37:g.64587701C>G	ENSP00000418735:p.Glu1312Asp					ADAMTS9_uc011bfo.1_Missense_Mutation_p.E1284D|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E1141D|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E223D	p.E1312D	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	26	3968	-		Lung NSC(201;0.00682)	1312					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.3936G>C	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.843|7.843	0.722254|0.722254	0.15372|0.15372	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.59772|.	0.24;0.24|.	5.55|5.55	3.78|3.78	0.43462|0.43462	.|.	0.703779|.	0.14516|.	N|.	0.314749|.	T|T	0.22551|0.22551	0.0544|0.0544	N|N	0.19112|0.19112	0.55|0.55	0.18873|0.18873	N|N	0.999987|0.999987	B;B;B|.	0.26547|.	0.0;0.152;0.0|.	B;B;B|.	0.27500|.	0.002;0.08;0.002|.	T|T	0.18999|0.18999	-1.0319|-1.0319	10|5	0.12766|.	T|.	0.61|.	.|.	5.1676|5.1676	0.15094|0.15094	0.1456:0.6351:0.0:0.2193|0.1456:0.6351:0.0:0.2193	.|.	1284;1312;1312|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	D|T	1284;1312|368	ENSP00000295903:E1284D;ENSP00000418735:E1312D|.	ENSP00000295903:E1284D|.	E|R	-|-	3|2	2|0	ADAMTS9|ADAMTS9	64562741|64562741	0.068000|0.068000	0.21057|0.21057	0.015000|0.015000	0.15790|0.15790	0.611000|0.611000	0.37282|0.37282	-0.028000|-0.028000	0.12350|0.12350	0.918000|0.918000	0.36919|0.36919	0.591000|0.591000	0.81541|0.81541	GAG|AGG		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			44	69	0	0	0	0.013114	0	44	69				
PLA1A	51365	broad.mit.edu	37	3	119347694	119347694	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:119347694T>C	ENST00000273371.4	+	10	1340	c.1268T>C	c.(1267-1269)cTt>cCt	p.L423P	PLA1A_ENST00000495992.1_Missense_Mutation_p.L407P|PLA1A_ENST00000488919.1_Missense_Mutation_p.L250P|PLA1A_ENST00000494440.1_Missense_Mutation_p.L407P	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	423	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCACTGCCCTTTTGCCTGTC	0.458																																							uc003ecu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1267-1269)CTT>CCT		phospholipase A1 member A precursor							115.0	113.0	114.0					3																	119347694		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119347694T>C	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.1268T>C	3.37:g.119347694T>C	ENSP00000273371:p.Leu423Pro					PLA1A_uc003ecv.2_Missense_Mutation_p.L407P|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.L250P	p.L423P	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			10	1307	+			423			Involved in the recognition of diacyl- phospholipids.		B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.1268T>C	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	T	3.373	-0.127997	0.06753	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.93133	-2.59;-3.17;-2.58;-2.69	5.39	2.51	0.30379	.	0.620280	0.17260	N	0.180818	T	0.79381	0.4436	N	0.03050	-0.425	0.41549	D	0.988562	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.65179	-0.6231	10	0.27785	T	0.31	-2.2872	3.5151	0.07722	0.1737:0.5191:0.0:0.3072	.	407;423	Q53H76-3;Q53H76	.;PLA1A_HUMAN	P	423;250;407;407	ENSP00000273371:L423P;ENSP00000420625:L250P;ENSP00000417326:L407P;ENSP00000418793:L407P	ENSP00000273371:L423P	L	+	2	0	PLA1A	120830384	0.001000	0.12720	0.826000	0.32828	0.181000	0.23173	0.070000	0.14573	0.205000	0.20568	-0.366000	0.07423	CTT		0.458	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			3	113	0	0	0	0.009096	0	3	113				
UROC1	131669	broad.mit.edu	37	3	126219611	126219611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:126219611G>A	ENST00000290868.2	-	11	1125	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	UROC1_ENST00000383579.3_Nonsense_Mutation_p.Q418*	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	358					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AAGCTGAGCTGCACAGGGTAG	0.602																																							uc003eiz.1		NA																	0				ovary(1)	1						c.(1072-1074)CAG>TAG		urocanase domain containing 1 isoform 1							112.0	105.0	107.0					3																	126219611		2203	4300	6503	SO:0001587	stop_gained	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126219611G>A	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1072C>T	3.37:g.126219611G>A	ENSP00000290868:p.Gln358*					UROC1_uc010hsi.1_Nonsense_Mutation_p.Q418*	p.Q358*	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	11	1104	-			358					E9PE13|Q14C64|Q68CJ7	Nonsense_Mutation	SNP	ENST00000290868.2	37	c.1072C>T	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	g	37	6.494017	0.97612	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	.	.	.	4.47	4.47	0.54385	.	0.265918	0.38436	N	0.001690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.2285	12.6445	0.56728	0.0:0.0:1.0:0.0	.	.	.	.	X	358;418	.	ENSP00000290868:Q358X	Q	-	1	0	UROC1	127702301	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.377000	0.79668	2.045000	0.60652	0.486000	0.48141	CAG		0.602	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		14	98	0	0	0	0.001855	0	14	98				
U2SURP	23350	broad.mit.edu	37	3	142769829	142769829	+	Nonsense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:142769829A>T	ENST00000473835.2	+	25	2683	c.2593A>T	c.(2593-2595)Aaa>Taa	p.K865*	U2SURP_ENST00000493598.2_Nonsense_Mutation_p.K864*|U2SURP_ENST00000397933.2_Nonsense_Mutation_p.K456*	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	865	Glu-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAAAAGACCTAAAAAACCAGG	0.318																																						Colon(87;897 1320 15089 19747 35974)	uc003evh.1		NA																	0					0						c.(2593-2595)AAA>TAA		U2-associated SR140 protein							50.0	48.0	49.0					3																	142769829		1802	4068	5870	SO:0001587	stop_gained	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142769829A>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2593A>T	3.37:g.142769829A>T	ENSP00000418563:p.Lys865*					SR140_uc003evi.1_Nonsense_Mutation_p.K456*|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Nonsense_Mutation_p.K864*|SR140_uc003evl.1_Nonsense_Mutation_p.K432*	p.K865*	NM_001080415	NP_001073884	O15042	SR140_HUMAN			25	2692	+			865			Potential.|Glu-rich.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Nonsense_Mutation	SNP	ENST00000473835.2	37	c.2593A>T	CCDS46928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	41|41	8.741374|8.741374	0.98935|0.98935	.|.	.|.	ENSG00000163714|ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029|ENST00000467348	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-23.8089|-23.8089	15.9011|15.9011	0.79377|0.79377	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	865;865;456;864;432|184	.|.	ENSP00000322376:K865X|.	K|X	+|+	1|2	0|2	U2SURP|U2SURP	144252519|144252519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.932000|8.932000	0.92897|0.92897	2.158000|2.158000	0.67659|0.67659	0.528000|0.528000	0.53228|0.53228	AAA|TAA		0.318	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		5	17	0	0	0	0.001168	0	5	17				
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	rs200600060		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498																																							uc003fgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1975-1977)GCG>GTG		solute carrier family 7 (cationic amino acid		G	VAL/ALA	0,4406		0,0,2203	101.0	107.0	105.0		1976	4.9	0.9	3		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC7A14	NM_020949.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	659/772	170198095	2,13004	2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198095G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1976C>T	3.37:g.170198095G>A	ENSP00000231706:p.Ala659Val					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.A659V	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2292	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		659			Helical; (Potential).		B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1976C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		3	100	0	0	0	0.009096	0	3	100				
MFN1	55669	broad.mit.edu	37	3	179085233	179085233	+	Nonsense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:179085233A>T	ENST00000471841.1	+	8	886	c.760A>T	c.(760-762)Aga>Tga	p.R254*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.R254*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.R254*	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	254	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTAGGTACGCAGACAGCACAT	0.348																																							uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(760-762)AGA>TGA		mitofusin 1							75.0	72.0	73.0					3																	179085233		2203	4300	6503	SO:0001587	stop_gained	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179085233A>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.760A>T	3.37:g.179085233A>T	ENSP00000420617:p.Arg254*					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Nonsense_Mutation_p.R282*|MFN1_uc010hxc.2_Nonsense_Mutation_p.R107*	p.R254*	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		8	886	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		254			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	SNP	ENST00000471841.1	37	c.760A>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174148	0.78452	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	.	.	.	5.21	3.99	0.46301	.	0.153896	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-4.9927	12.2238	0.54449	0.858:0.1419:0.0:0.0	.	.	.	.	X	254;254;254;254;107;117	.	ENSP00000263969:R254X	R	+	1	2	MFN1	180567927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.080000	0.76837	1.959000	0.56917	0.533000	0.62120	AGA		0.348	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		5	40	0	0	0	0.000602	0	5	40				
ECE2	9718	broad.mit.edu	37	3	183995734	183995734	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:183995734G>T	ENST00000402825.3	+	5	854	c.854G>T	c.(853-855)aGc>aTc	p.S285I	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.S167I|ECE2_ENST00000357474.5_Missense_Mutation_p.S213I|ECE2_ENST00000359140.4_Missense_Mutation_p.S138I	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	285	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCAACTCCAGCAGTGAAGCT	0.557																																							uc003fni.3		NA																	0				ovary(2)|skin(2)	4						c.(853-855)AGC>ATC		endothelin converting enzyme 2 isoform A							89.0	88.0	88.0					3																	183995734		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183995734G>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.854G>T	3.37:g.183995734G>T	ENSP00000384223:p.Ser285Ile					ECE2_uc011brg.1_Missense_Mutation_p.S213I|ECE2_uc011brh.1_Missense_Mutation_p.S138I|ECE2_uc003fnl.3_Missense_Mutation_p.S213I|ECE2_uc003fnm.3_Missense_Mutation_p.S167I|ECE2_uc003fnk.3_Missense_Mutation_p.S138I|ECE2_uc011bri.1_Missense_Mutation_p.S200I|ECE2_uc010hxv.2_5'UTR	p.S285I	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	892	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		285			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.854G>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734464	0.48939	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.17	2.21	0.28008	Peptidase M13 (1);	0.038626	0.85682	D	0.000000	T	0.78892	0.4355	L	0.55743	1.74	0.46167	D	0.998909	P;D;B;B;P;P	0.53151	0.948;0.958;0.032;0.141;0.939;0.955	P;P;B;B;P;P	0.61003	0.795;0.833;0.038;0.343;0.7;0.882	T	0.77773	-0.2462	10	0.51188	T	0.08	-23.8416	10.7853	0.46401	0.0:0.2644:0.5987:0.1369	.	138;213;167;213;138;285	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	I	285;138;167;213;159	ENSP00000384223:S285I;ENSP00000352052:S138I;ENSP00000385846:S167I;ENSP00000350066:S213I;ENSP00000398444:S159I	ENSP00000350066:S213I	S	+	2	0	ECE2	185478428	0.361000	0.24972	0.995000	0.50966	0.673000	0.39480	0.830000	0.27462	0.730000	0.32425	0.561000	0.74099	AGC		0.557	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		27	66	1	0	1.12875e-08	0.00632	1.40762e-08	27	66				
CTBP1	1487	broad.mit.edu	37	4	1206184	1206184	+	Silent	SNP	G	G	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:1206184G>C	ENST00000290921.6	-	9	1348	c.1167C>G	c.(1165-1167)gcC>gcG	p.A389A	CTBP1_ENST00000382952.3_Silent_p.A378A	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	389					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|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)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TGCCAGTGGGGGCCACGCCCA	0.716																																							uc003gcv.1		NA																	0				ovary(1)	1						c.(1165-1167)GCC>GCG		C-terminal binding protein 1 isoform 1							15.0	14.0	14.0					4																	1206184		2165	4273	6438	SO:0001819	synonymous_variant	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206184G>C	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1167C>G	4.37:g.1206184G>C						uc003gcs.1_RNA|CTBP1_uc003gct.1_Silent_p.A370A|CTBP1_uc003gcu.1_Silent_p.A378A|CTBP1_uc003gcw.2_Silent_p.A64A	p.A389A	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	9	1332	-			389					Q4W5N3|Q7Z2Q5	Silent	SNP	ENST00000290921.6	37	c.1167C>G	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717457	0.03182	.	.	ENSG00000159692	ENST00000503594;ENST00000504092	.	.	.	4.15	-0.66	0.11421	.	.	.	.	.	T	0.42517	0.1206	.	.	.	0.53005	D	0.999966	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	-12.1821	2.9224	0.05773	0.457:0.0:0.1896:0.3533	.	.	.	.	A	133;236	.	.	P	-	1	0	CTBP1	1196184	1.000000	0.71417	0.237000	0.24090	0.097000	0.18754	0.622000	0.24433	-0.043000	0.13513	-0.258000	0.10820	CCC		0.716	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		5	7	0	0	0	0.001168	0	5	7				
MAEA	10296	broad.mit.edu	37	4	1321485	1321485	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:1321485C>G	ENST00000303400.4	+	5	713	c.650C>G	c.(649-651)gCt>gGt	p.A217G	MAEA_ENST00000505839.1_Missense_Mutation_p.A169G|MAEA_ENST00000510794.1_Missense_Mutation_p.A216G|MAEA_ENST00000452175.2_Missense_Mutation_p.A138G|MAEA_ENST00000505177.2_Missense_Mutation_p.A255G|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000264750.6_Missense_Mutation_p.A176G	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	217					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AGACTGGACGCTGTGAGGTAG	0.602																																							uc003gda.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(649-651)GCT>GGT		macrophage erythroblast attacher isoform 1							105.0	89.0	95.0					4																	1321485		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1321485C>G	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.650C>G	4.37:g.1321485C>G	ENSP00000302830:p.Ala217Gly					MAEA_uc010ibs.1_Missense_Mutation_p.A176G|MAEA_uc003gdb.2_Missense_Mutation_p.A176G|MAEA_uc011bvb.1_Missense_Mutation_p.A149G|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.A216G|MAEA_uc011bvd.1_Missense_Mutation_p.A169G|MAEA_uc010ibt.2_Intron|MAEA_uc010ibu.2_5'Flank	p.A217G	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		5	680	+			217					O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.650C>G	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831960	0.91036	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000264750;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839	D;T;T;T;T;D	0.82619	-1.62;-1.39;-1.24;-0.99;-1.28;-1.63	5.3	5.3	0.74995	Ran binding protein-like, CRA domain (1);	0.106321	0.64402	D	0.000005	D	0.92714	0.7684	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D	0.89917	0.986;0.99;1.0;1.0;0.994	D;D;D;D;D	0.97110	0.964;0.983;1.0;1.0;0.981	D	0.93905	0.7192	10	0.87932	D	0	-26.0734	18.5471	0.91052	0.0:1.0:0.0:0.0	.	216;255;176;176;217	B4DVN3;E7ESC7;Q7L5Y9-2;Q7L5Y9-3;Q7L5Y9	.;.;.;.;MAEA_HUMAN	G	217;255;176;196;149;138;216;169	ENSP00000302830:A217G;ENSP00000422215:A255G;ENSP00000264750:A176G;ENSP00000426903:A149G;ENSP00000411415:A138G;ENSP00000426807:A216G	ENSP00000264750:A176G	A	+	2	0	MAEA	1311485	1.000000	0.71417	0.939000	0.37840	0.575000	0.36095	5.517000	0.67061	2.468000	0.83385	0.655000	0.94253	GCT		0.602	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		13	26	0	0	0	0.00245	0	13	26				
FGFR3	2261	broad.mit.edu	37	4	1808905	1808905	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:1808905C>G	ENST00000260795.2	+	17	2439	c.2337C>G	c.(2335-2337)agC>agG	p.S779R	FGFR3_ENST00000440486.2_Missense_Mutation_p.S779R|FGFR3_ENST00000352904.1_Missense_Mutation_p.S667R|FGFR3_ENST00000481110.2_Missense_Mutation_p.L757V|FGFR3_ENST00000412135.2_Missense_Mutation_p.S667R|FGFR3_ENST00000340107.4_Missense_Mutation_p.S781R			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	779					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACACCCCCAGCTCCAGCTCCT	0.716		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																														uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		0				urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600						c.(2335-2337)AGC>AGG		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						25.0	27.0	27.0					4																	1808905		2194	4294	6488	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808905C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2337C>G	4.37:g.1808905C>G	ENSP00000260795:p.Ser779Arg					FGFR3_uc003gdu.2_Missense_Mutation_p.S781R|FGFR3_uc003gds.3_Missense_Mutation_p.S667R|FGFR3_uc003gdq.3_Missense_Mutation_p.L757V	p.S779R	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		18	2593	+		Breast(71;0.212)|all_epithelial(65;0.241)	779			Cytoplasmic (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.2337C>G	CCDS3353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.57|16.57	3.160093|3.160093	0.57368|0.57368	.|.	.|.	ENSG00000068078|ENSG00000068078	ENST00000481110|ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000312875	D|D;D;D;D;D	0.82255|0.82711	-1.59|-1.64;-1.64;-1.64;-1.64;-1.64	4.53|4.53	2.79|2.79	0.32731|0.32731	.|.	0.068962|.	0.64402|.	N|.	0.000014|.	D|D	0.87442|0.87442	0.6178|0.6178	L|L	0.60067|0.60067	1.865|1.865	0.58432|0.58432	D|D	0.999999|0.999999	B|D;D;D	0.32467|0.89917	0.372|1.0;0.999;1.0	B|D;D;D	0.33392|0.83275	0.163|0.996;0.994;0.991	D|D	0.85845|0.85845	0.1400|0.1400	10|9	0.87932|0.87932	D|D	0|0	.|.	8.8499|8.8499	0.35192|0.35192	0.0:0.7531:0.0:0.2469|0.0:0.7531:0.0:0.2469	.|.	757|781;667;779	F8W9L4|P22607-2;P22607-3;P22607	.|.;.;FGFR3_HUMAN	V|R	757|781;779;667;779;667;21	ENSP00000420533:L757V|ENSP00000339824:S781R;ENSP00000414914:S779R;ENSP00000412903:S667R;ENSP00000260795:S779R;ENSP00000231803:S667R	ENSP00000420533:L757V|ENSP00000260795:S779R	L|S	+|+	1|3	0|2	FGFR3|FGFR3	1778703|1778703	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.786000|0.786000	0.44442|0.44442	2.470000|2.470000	0.45119|0.45119	0.456000|0.456000	0.26937|0.26937	0.511000|0.511000	0.50034|0.50034	CTC|AGC		0.716	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		2	11	0	0	0	0.004672	0	2	11				
AMBN	258	broad.mit.edu	37	4	71468534	71468534	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:71468534C>A	ENST00000322937.6	+	8	693	c.590C>A	c.(589-591)cCt>cAt	p.P197H	AMBN_ENST00000449493.2_Missense_Mutation_p.P182H	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	197					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ATGGATTTTCCTGATCCACAA	0.259																																							uc003hfl.2		NA																	0				ovary(3)|skin(1)	4						c.(589-591)CCT>CAT		ameloblastin precursor							31.0	31.0	31.0					4																	71468534		1313	2294	3607	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468534C>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.590C>A	4.37:g.71468534C>A	ENSP00000313809:p.Pro197His						p.P197H	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		8	665	+			197			1.		Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.590C>A	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859328	0.17178	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.33865	1.49;1.39	2.61	2.61	0.31194	.	1.468300	0.05127	U	0.491847	T	0.31009	0.0783	N	0.08118	0	0.09310	N	1	B	0.32620	0.378	P	0.44422	0.449	T	0.47471	-0.9115	10	0.66056	D	0.02	.	8.8315	0.35087	0.0:1.0:0.0:0.0	.	197	Q9NP70	AMBN_HUMAN	H	197;196;182	ENSP00000313809:P197H;ENSP00000391234:P182H	ENSP00000313809:P197H	P	+	2	0	AMBN	71503123	0.999000	0.42202	0.080000	0.20451	0.049000	0.14656	2.839000	0.48207	1.778000	0.52293	0.305000	0.20034	CCT		0.259	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		10	25	1	0	0.000151284	0.001855	0.000170597	10	25				
FAT4	79633	broad.mit.edu	37	4	126373318	126373318	+	Missense_Mutation	SNP	G	G	T	rs139635339		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:126373318G>T	ENST00000394329.3	+	9	11160	c.11147G>T	c.(11146-11148)cGt>cTt	p.R3716L	FAT4_ENST00000335110.5_Missense_Mutation_p.R2014L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3716					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTTACTTCGTCTCGGCGTA	0.468																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(11146-11148)CGT>CTT		FAT tumor suppressor homolog 4 precursor							180.0	168.0	172.0					4																	126373318		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373318G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11147G>T	4.37:g.126373318G>T	ENSP00000377862:p.Arg3716Leu					FAT4_uc011cgp.1_Missense_Mutation_p.R2014L|FAT4_uc003ifi.1_Missense_Mutation_p.R1194L	p.R3716L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	11147	+			3716			Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11147G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896646	0.52121	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.54479	0.57;0.57	5.76	5.76	0.90799	.	0.000000	0.35207	U	0.003368	T	0.53850	0.1822	L	0.47716	1.5	0.80722	D	1	P;P;P	0.47545	0.897;0.835;0.897	P;B;P	0.44477	0.451;0.264;0.451	T	0.51865	-0.8651	10	0.40728	T	0.16	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	2014;3716;3716	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	3716;2014	ENSP00000377862:R3716L;ENSP00000335169:R2014L	ENSP00000335169:R2014L	R	+	2	0	FAT4	126592768	1.000000	0.71417	0.851000	0.33527	0.271000	0.26615	4.746000	0.62133	2.719000	0.93026	0.555000	0.69702	CGT		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		29	81	1	0	1.06647e-15	0.003755	1.54858e-15	29	81				
RXFP1	59350	broad.mit.edu	37	4	159493897	159493897	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:159493897C>A	ENST00000307765.5	+	2	348	c.97C>A	c.(97-99)Ccc>Acc	p.P33T	RXFP1_ENST00000423548.1_Missense_Mutation_p.P33T|RXFP1_ENST00000343542.5_Missense_Mutation_p.P33T|RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000470033.1_Missense_Mutation_p.P33T|RXFP1_ENST00000448688.2_5'UTR	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	33	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGGCTATTTCCCCTGTGGGAA	0.517																																							uc003ipz.2		NA																	0					0						c.(97-99)CCC>ACC		relaxin/insulin-like family peptide receptor 1							144.0	147.0	146.0					4																	159493897		2052	4188	6240	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159493897C>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.97C>A	4.37:g.159493897C>A	ENSP00000303248:p.Pro33Thr					RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.P33T|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.P33T|RXFP1_uc010iqm.2_Missense_Mutation_p.P33T|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron	p.P33T	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	2	179	+	all_hematologic(180;0.24)	Renal(120;0.0854)	33			Extracellular (Potential).|LDL-receptor class A.		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.97C>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062223	0.76187	.	.	ENSG00000171509	ENST00000307765;ENST00000423548;ENST00000343542;ENST00000470033	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	4.96	3.24	0.37175	.	0.141157	0.48286	D	0.000196	D	0.95984	0.8692	M	0.66378	2.025	0.80722	D	1	D;P;D;D	0.71674	0.998;0.912;0.981;0.997	D;P;D;D	0.74023	0.982;0.662;0.924;0.973	D	0.94943	0.8093	10	0.72032	D	0.01	.	10.0662	0.42306	0.0:0.8329:0.0:0.1671	.	33;33;33;33	B4DGP2;Q9HBX9-4;Q9HBX9-2;Q9HBX9	.;.;.;RXFP1_HUMAN	T	33	ENSP00000303248:P33T;ENSP00000405841:P33T;ENSP00000345889:P33T;ENSP00000420712:P33T	ENSP00000303248:P33T	P	+	1	0	RXFP1	159713347	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	4.406000	0.59748	0.506000	0.28125	0.563000	0.77884	CCC		0.517	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		30	68	1	0	2.61193e-14	0.009535	3.74142e-14	30	68				
TRIML1	339976	broad.mit.edu	37	4	189061712	189061712	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:189061712C>T	ENST00000332517.3	+	2	579	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	147					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAATCTTTTGCGTGTAAGGAG	0.473																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(439-441)CGT>TGT		tripartite motif family-like 1							155.0	146.0	149.0					4																	189061712		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061712C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.439C>T	4.37:g.189061712C>T	ENSP00000327738:p.Arg147Cys						p.R147C	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	2	554	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	147			Potential.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.439C>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	3.302	-0.142753	0.06669	.	.	ENSG00000184108	ENST00000332517	T	0.63580	-0.05	4.74	-1.08	0.09936	.	0.871046	0.09904	N	0.740624	T	0.53642	0.1809	L	0.52266	1.64	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47983	-0.9074	10	0.56958	D	0.05	-0.4489	9.9986	0.41916	0.0:0.5002:0.0:0.4998	.	147	Q8N9V2	TRIML_HUMAN	C	147	ENSP00000327738:R147C	ENSP00000327738:R147C	R	+	1	0	TRIML1	189298706	0.000000	0.05858	0.005000	0.12908	0.000000	0.00434	-1.195000	0.03043	-0.418000	0.07450	-1.731000	0.00696	CGT		0.473	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		8	51	0	0	0	0.006214	0	8	51				
PCDHGA11	56105	broad.mit.edu	37	5	140803124	140803124	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr5:140803124G>T	ENST00000398587.2	+	1	2363	c.2330G>T	c.(2329-2331)gGg>gTg	p.G777V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	777					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACTATGGGGACACGCTC	0.517																																							uc003lkq.1		NA																	0					0						c.(2329-2331)GGG>GTG		protocadherin gamma subfamily A, 11 isoform 1							67.0	73.0	71.0					5																	140803124		2203	4300	6503	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140803124G>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.2330G>T	5.37:g.140803124G>T	ENSP00000381589:p.Gly777Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.G777V|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank	p.G777V	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2588	+			777			Cytoplasmic (Potential).		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.2330G>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	10.27	1.303222	0.23736	.	.	ENSG00000253873	ENST00000398587	T	0.47177	0.85	5.2	4.33	0.51752	.	.	.	.	.	T	0.23054	0.0557	N	0.01352	-0.895	0.19300	N	0.999975	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.18808	-1.0325	9	0.44086	T	0.13	.	13.815	0.63285	0.0:0.7035:0.2965:0.0	.	777;777	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	V	777	ENSP00000381589:G777V	ENSP00000381589:G777V	G	+	2	0	PCDHGA11	140783308	0.003000	0.15002	0.870000	0.34147	0.855000	0.48748	0.972000	0.29409	1.330000	0.45394	-0.147000	0.13772	GGG		0.517	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		43	91	1	0	2.34695e-46	0.01441	3.82734e-46	43	91				
ZNF300	91975	broad.mit.edu	37	5	150276251	150276251	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr5:150276251A>C	ENST00000274599.5	-	6	970	c.550T>G	c.(550-552)Ttc>Gtc	p.F184V	ZNF300_ENST00000418587.2_Missense_Mutation_p.F148V|ZNF300_ENST00000446148.2_Missense_Mutation_p.F200V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.F184V	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TATTTATGGAATCTCTGTATT	0.328																																							uc003lsy.1		NA																	0				ovary(1)|skin(1)	2						c.(550-552)TTC>GTC		zinc finger protein 300							72.0	76.0	74.0					5																	150276251		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276251A>C	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.550T>G	5.37:g.150276251A>C	ENSP00000274599:p.Phe184Val					IRGM_uc011dcl.1_Intron	p.F184V	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	817	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	184					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.550T>G	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	A	3.332	-0.136356	0.06711	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07216	3.29;3.28;3.21;3.29	2.86	-1.33	0.09172	.	.	.	.	.	T	0.04770	0.0129	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42949	-0.9421	9	0.28530	T	0.3	.	7.8075	0.29211	0.6784:0.0:0.3216:0.0	.	184	Q96RE9	ZN300_HUMAN	V	200;184;148;184	ENSP00000397178:F200V;ENSP00000274599:F184V;ENSP00000392593:F148V;ENSP00000377773:F184V	ENSP00000274599:F184V	F	-	1	0	ZNF300	150256444	0.000000	0.05858	0.000000	0.03702	0.547000	0.35210	-0.156000	0.10100	-0.343000	0.08351	-0.479000	0.04858	TTC		0.328	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		15	48	0	0	0	0.00245	0	15	48				
SQSTM1	8878	broad.mit.edu	37	5	179251243	179251243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr5:179251243G>A	ENST00000389805.4	+	4	771	c.593G>A	c.(592-594)tGg>tAg	p.W198*	SQSTM1_ENST00000376929.3_Nonsense_Mutation_p.W114*|SQSTM1_ENST00000510187.1_Nonsense_Mutation_p.W198*|SQSTM1_ENST00000402874.3_Nonsense_Mutation_p.W114*|SQSTM1_ENST00000360718.5_Nonsense_Mutation_p.W114*	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	198	Interaction with GABRR3. {ECO:0000250}.|LIM protein-binding (LB).				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCCAGGATGGGAAATGGGT	0.652																																							uc003mkw.3		NA																SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(592-594)TGG>TAG		sequestosome 1 isoform 1							55.0	61.0	59.0					5																	179251243		2203	4300	6503	SO:0001587	stop_gained	8878	Paget_Disease_of_Bone			anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179251243G>A	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.593G>A	5.37:g.179251243G>A	ENSP00000374455:p.Trp198*					SQSTM1_uc011dgr.1_Nonsense_Mutation_p.W114*|SQSTM1_uc011dgs.1_Nonsense_Mutation_p.W114*|SQSTM1_uc003mkv.3_Nonsense_Mutation_p.W198*|SQSTM1_uc003mkx.2_Nonsense_Mutation_p.W114*	p.W198*	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	688	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	198			Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Nonsense_Mutation	SNP	ENST00000389805.4	37	c.593G>A	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181721	0.94885	.	.	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000422245;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	.	.	.	4.7	3.77	0.43336	.	0.451108	0.25453	N	0.030563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-22.4798	10.648	0.45632	0.0:0.0:0.8094:0.1906	.	.	.	.	X	114;114;114;198;54;114;198;114	.	ENSP00000353944:W114X	W	+	2	0	SQSTM1	179183849	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.913000	0.56394	2.319000	0.78375	0.561000	0.74099	TGG		0.652	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			11	48	0	0	0	0.013537	0	11	48				
AGER	177	broad.mit.edu	37	6	32150671	32150671	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:32150671C>A	ENST00000375076.4	-	6	739	c.638G>T	c.(637-639)gGc>gTc	p.G213V	XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375067.3_Missense_Mutation_p.G199V|AGER_ENST00000375065.5_Intron|AGER_ENST00000375070.3_Missense_Mutation_p.G244V|AGER_ENST00000375069.3_Missense_Mutation_p.G112V|AGER_ENST00000375055.2_Missense_Mutation_p.G213V|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_Missense_Mutation_p.G229V	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	213	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCGGGGAAGGCCTGGGCTGAA	0.662																																							uc003oal.1		NA																	0				breast(1)	1						c.(637-639)GGC>GTC		advanced glycosylation end product-specific							74.0	79.0	77.0					6																	32150671		1510	2708	4218	SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32150671C>A	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.638G>T	6.37:g.32150671C>A	ENSP00000364217:p.Gly213Val					AGER_uc003oak.1_5'UTR|AGER_uc003oar.2_Missense_Mutation_p.G112V|AGER_uc011dpm.1_Missense_Mutation_p.G112V|AGER_uc011dpn.1_Missense_Mutation_p.G112V|AGER_uc010jtv.1_Missense_Mutation_p.G213V|AGER_uc011dpo.1_Missense_Mutation_p.G126V|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.G199V|AGER_uc003oap.1_Missense_Mutation_p.G229V|AGER_uc003oat.1_Missense_Mutation_p.G229V|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.G199V|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.G213V|AGER_uc003oau.1_Missense_Mutation_p.G213V|AGER_uc011dpp.1_Missense_Mutation_p.G213V|AGER_uc011dpq.1_Missense_Mutation_p.G229V	p.G213V	NM_001136	NP_001127	Q15109	RAGE_HUMAN			6	662	-			213			Extracellular (Potential).|Ig-like C2-type 1.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.638G>T	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.045037	0.36085	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000438221;ENST00000375069;ENST00000450110;ENST00000375056	T;T;T;T;T;T;T;T	0.77229	1.09;1.09;1.09;1.09;1.09;1.09;-1.08;-1.08	4.92	3.08	0.35506	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	0.482597	0.19446	N	0.114071	T	0.70281	0.3206	M	0.65975	2.015	0.09310	N	0.999996	D;B;D;D;P;P;D;D;P;D;D;P	0.89917	1.0;0.305;0.996;0.967;0.901;0.937;1.0;0.972;0.913;0.972;0.988;0.913	D;B;D;P;P;P;D;D;P;P;D;P	0.97110	1.0;0.138;0.975;0.895;0.818;0.835;1.0;0.946;0.841;0.897;0.947;0.841	T	0.62329	-0.6877	10	0.05620	T	0.96	-2.6488	7.8636	0.29524	0.1844:0.6378:0.1778:0.0	.	229;213;213;112;213;213;229;213;199;229;199;213	B5A981;B5A980;C9J0M2;A8MS87;A7Y2U9;Q15109-3;Q3L1R7;Q3L1R6;Q3L1R5;Q3L1R8;Q15109-2;Q15109	.;.;.;.;.;.;.;.;.;.;.;RAGE_HUMAN	V	199;213;213;244;229;112;226;229	ENSP00000364208:G199V;ENSP00000364195:G213V;ENSP00000364217:G213V;ENSP00000364211:G244V;ENSP00000387887:G229V;ENSP00000364210:G112V;ENSP00000398466:G226V;ENSP00000364196:G229V	ENSP00000364195:G213V	G	-	2	0	AGER	32258649	0.035000	0.19736	0.004000	0.12327	0.897000	0.52465	1.322000	0.33689	0.632000	0.30432	0.462000	0.41574	GGC		0.662	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		3	103	1	0	0.004672	0.004672	0.00505339	3	103				
HCRTR2	3062	broad.mit.edu	37	6	55113507	55113507	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:55113507G>A	ENST00000370862.3	+	2	630	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	98					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCTTTCTCTGGCTGATGTGC	0.458																																							uc003pcl.2		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(292-294)CTG>CTA		orexin receptor 2							232.0	209.0	217.0					6																	55113507		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113507G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.294G>A	6.37:g.55113507G>A						HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Silent_p.L33L	p.L98L	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	609	+	Lung NSC(77;0.107)|Renal(3;0.122)		98			Helical; Name=2; (Potential).		Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.294G>A	CCDS4956.1																																																																																				0.458	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			41	133	0	0	0	0.009718	0	41	133				
FYN	2534	broad.mit.edu	37	6	112035607	112035607	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:112035607C>T	ENST00000354650.3	-	5	893	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	FYN_ENST00000229470.5_Missense_Mutation_p.R96Q|FYN_ENST00000538466.1_Missense_Mutation_p.R96Q|FYN_ENST00000368667.2_Missense_Mutation_p.R96Q|FYN_ENST00000356013.2_Missense_Mutation_p.R96Q|FYN_ENST00000368682.3_Missense_Mutation_p.R96Q|FYN_ENST00000368678.4_Missense_Mutation_p.R96Q|FYN_ENST00000229471.4_Missense_Mutation_p.R96Q	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	96	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ATCTTCTGTCCGTGCTTCATA	0.403																																							uc003pvj.2		NA																	0				lung(5)|central_nervous_system(1)|skin(1)	7						c.(286-288)CGG>CAG		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						90.0	87.0	88.0					6																	112035607		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112035607C>T	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.287G>A	6.37:g.112035607C>T	ENSP00000346671:p.Arg96Gln					FYN_uc003pvi.2_Missense_Mutation_p.R96Q|FYN_uc003pvk.2_Missense_Mutation_p.R96Q|FYN_uc003pvh.2_Missense_Mutation_p.R96Q	p.R96Q	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	4	627	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	96			SH3.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.287G>A	CCDS5094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.443691|4.443691	0.83993|0.83993	.|.	.|.	ENSG00000010810|ENSG00000010810	ENST00000544792|ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000462856;ENST00000520518;ENST00000517419;ENST00000518295;ENST00000523238;ENST00000524310;ENST00000523574;ENST00000462598;ENST00000518630;ENST00000523570;ENST00000484067;ENST00000521062	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.49139	.|0.79;0.79;0.79;0.79;0.79;1.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;2.36	5.77|5.77	5.77|5.77	0.91146|0.91146	.|Src homology-3 domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.43722	.|0.1260	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.65815	.|0.995;0.588;0.77	.|P;B;B	.|0.53266	.|0.722;0.427;0.313	.|T	.|0.05683	.|-1.0870	.|10	.|0.18710	.|T	.|0.47	.|.	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|96;96;96	.|P06241;P06241-3;E1P556	.|FYN_HUMAN;.;.	.|Q	-1|96	.|ENSP00000357671:R96Q;ENSP00000346671:R96Q;ENSP00000229471:R96Q;ENSP00000357656:R96Q;ENSP00000357667:R96Q;ENSP00000229470:R96Q;ENSP00000348295:R96Q;ENSP00000440646:R96Q;ENSP00000427993:R96Q;ENSP00000429294:R96Q;ENSP00000429866:R96Q;ENSP00000428695:R96Q;ENSP00000430364:R96Q;ENSP00000428493:R96Q;ENSP00000429992:R96Q;ENSP00000429590:R96Q;ENSP00000429813:R96Q;ENSP00000428045:R96Q;ENSP00000428983:R96Q;ENSP00000428042:R96Q	.|ENSP00000229470:R96Q	.|R	-|-	.|2	.|0	FYN|FYN	112142300|112142300	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.885000|0.885000	0.51271|0.51271	7.776000|7.776000	0.85560|0.85560	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	.|CGG		0.403	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			9	52	0	0	0	0.010729	0	9	52				
LAMA2	3908	broad.mit.edu	37	6	129637037	129637038	+	Missense_Mutation	DNP	GG	GG	AT	rs199833683		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:129637037_129637038GG>AT	ENST00000421865.2	+	26	3915_3916	c.3866_3867GG>AT	c.(3865-3867)aGG>aAT	p.R1289N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1289	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTATCGTCAGGCATATGGCTG	0.421																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(3865-3867)AGG>AAT		laminin alpha 2 subunit isoform a precursor																																				SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129637037_129637038GG>AT	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	Exception_encountered	6.37:g.129637037_129637038delinsAT	ENSP00000400365:p.Arg1289Asn					LAMA2_uc003qbo.2_Missense_Mutation_p.R1289N	p.R1289N	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	26	3971_3972	+			1289			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	DNP	ENST00000421865.2	37	c.3866_3867GG>AT	CCDS5138.1																																																																																				0.421	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			21	49	0	0	0	0.004672	0	21	49				
BCLAF1	9774	broad.mit.edu	37	6	136596725	136596725	+	Silent	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:136596725T>C	ENST00000531224.1	-	6	2049	c.1797A>G	c.(1795-1797)aaA>aaG	p.K599K	BCLAF1_ENST00000353331.4_Silent_p.K597K|BCLAF1_ENST00000527759.1_Silent_p.K597K|BCLAF1_ENST00000530767.1_Silent_p.K426K|BCLAF1_ENST00000392348.2_Silent_p.K597K|BCLAF1_ENST00000527536.1_Silent_p.K599K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	599					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTGAAGTGCTTTTGCTGGCCT	0.393																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(1795-1797)AAA>AAG		BCL2-associated transcription factor 1 isoform							210.0	191.0	197.0					6																	136596725		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136596725T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1797A>G	6.37:g.136596725T>C						BCLAF1_uc003qgw.1_Silent_p.K426K|BCLAF1_uc003qgy.1_Silent_p.K597K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K597K	p.K599K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	6	2050	-	Colorectal(23;0.24)		599					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1797A>G	CCDS5177.1																																																																																				0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	104	0	0	0	0.00245	0	9	104				
GINM1	116254	broad.mit.edu	37	6	149893739	149893739	+	Splice_Site	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:149893739G>T	ENST00000367419.5	+	3	398	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L	RP1-12G14.6_ENST00000435273.2_RNA	NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	93						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GACTTTGATAGGTGAGTATTA	0.353																																							uc003qmq.1		NA																	0					0						c.(277-279)GTG>TTG		hypothetical protein LOC116254 precursor							101.0	99.0	100.0					6																	149893739		2203	4300	6503	SO:0001630	splice_region_variant	116254					integral to membrane		g.chr6:149893739G>T	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.277+1G>T	6.37:g.149893739G>T						C6orf72_uc010kie.1_Intron	p.V93L	NM_138785	NP_620140	Q9NU53	CF072_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)	3	304	+		Ovarian(120;0.0907)	93			Extracellular (Potential).		B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	c.277G>T	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833379	0.32421	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.78	5.78	0.91487	.	0.143833	0.47852	D	0.000202	T	0.28732	0.0712	L	0.29908	0.895	0.46823	D	0.999214	B	0.14012	0.009	B	0.15484	0.013	T	0.09509	-1.0671	8	.	.	.	-6.2979	12.7696	0.57412	0.0:0.0:0.7949:0.2051	.	93	Q9NU53	CF072_HUMAN	L	93	.	.	V	+	1	0	C6orf72	149935432	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.082000	0.41605	2.726000	0.93360	0.650000	0.86243	GTG		0.353	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785	Missense_Mutation	11	17	1	0	2.27111e-07	0.013537	2.68981e-07	11	17				
CARD11	84433	broad.mit.edu	37	7	2983872	2983872	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:2983872T>A	ENST00000396946.4	-	5	1061	c.658A>T	c.(658-660)Atg>Ttg	p.M220L	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	220					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGCTCCTCATGACCGCCATG	0.582			Mis		DLBCL																																		uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(658-660)ATG>TTG		caspase recruitment domain family, member 11							154.0	96.0	115.0					7																	2983872		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2983872T>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.658A>T	7.37:g.2983872T>A	ENSP00000380150:p.Met220Leu						p.M220L	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	1062	-		Ovarian(82;0.0115)	220			Potential.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.658A>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	15.70	2.912027	0.52439	.	.	ENSG00000198286	ENST00000396946	T	0.30981	1.51	4.16	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	N	0.21282	0.65	0.47245	D	0.999369	B	0.11235	0.004	B	0.10450	0.005	T	0.12502	-1.0545	10	0.02654	T	1	-45.0575	10.7146	0.46005	0.0:0.0:0.1605:0.8395	.	220	Q9BXL7	CAR11_HUMAN	L	220	ENSP00000380150:M220L	ENSP00000380150:M220L	M	-	1	0	CARD11	2950398	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.741000	0.68638	0.541000	0.28827	0.459000	0.35465	ATG		0.582	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		8	40	0	0	0	0.004482	0	8	40				
COL28A1	340267	broad.mit.edu	37	7	7476096	7476096	+	Splice_Site	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:7476096T>C	ENST00000399429.3	-	23	1932		c.e23-2			NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTATCTCCCTGTACATTTCA	0.398																																							uc003src.1		NA																	0				skin(3)	3						c.e23-1		collagen, type XXVIII precursor							107.0	102.0	104.0					7																	7476096		1852	4108	5960	SO:0001630	splice_region_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7476096T>C	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1792-2A>G	7.37:g.7476096T>C						COL28A1_uc011jxe.1_Splice_Site_p.G281_splice|COL28A1_uc003srd.2_Splice_Site_p.G153_splice|COL28A1_uc003sre.1_Splice_Site_p.G19_splice	p.G598_splice	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	23	1909	-		Ovarian(82;0.0789)						A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Splice_Site	SNP	ENST00000399429.3	37	c.1792_splice	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054381	0.55218	.	.	ENSG00000215018	ENST00000399429;ENST00000435823;ENST00000399419	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5322	0.44983	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL28A1	7442621	0.990000	0.36364	0.988000	0.46212	0.895000	0.52256	1.687000	0.37680	2.083000	0.62718	0.482000	0.46254	.		0.398	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	Intron	23	38	0	0	0	0.005443	0	23	38				
LANCL2	55915	broad.mit.edu	37	7	55468954	55468954	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:55468954C>T	ENST00000254770.2	+	5	1344	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	256					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CCAGTGGCACCGGAAGCAGTA	0.438																																							uc003tqp.2		NA																	0				ovary(1)|skin(1)	2						c.(766-768)CGG>TGG		LanC lantibiotic synthetase component C-like 2							132.0	131.0	131.0					7																	55468954		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55468954C>T	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.766C>T	7.37:g.55468954C>T	ENSP00000254770:p.Arg256Trp						p.R256W	NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		5	1344	+	Breast(14;0.0379)		256					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.766C>T	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018833	0.75275	.	.	ENSG00000132434	ENST00000254770	T	0.44083	0.93	6.02	2.08	0.27032	Six-hairpin glycosidase-like (1);	0.133653	0.64402	D	0.000001	T	0.50650	0.1628	L	0.50333	1.59	0.38036	D	0.935315	D	0.76494	0.999	D	0.66979	0.948	T	0.50890	-0.8774	10	0.66056	D	0.02	.	6.6141	0.22766	0.6132:0.2929:0.0939:0.0	.	256	Q9NS86	LANC2_HUMAN	W	256	ENSP00000254770:R256W	ENSP00000254770:R256W	R	+	1	2	LANCL2	55436448	0.962000	0.33011	0.999000	0.59377	0.932000	0.56968	0.213000	0.17521	0.095000	0.17434	-0.262000	0.10625	CGG		0.438	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		16	101	0	0	0	0.006122	0	16	101				
ZNF716	441234	broad.mit.edu	37	7	57529215	57529215	+	Nonsense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:57529215A>T	ENST00000420713.1	+	4	1160	c.1048A>T	c.(1048-1050)Aaa>Taa	p.K350*		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TACTGGGGAGAAACTCTACAC	0.398																																							uc011kdi.1		NA																	0				ovary(2)	2						c.(1048-1050)AAA>TAA		zinc finger protein 716							58.0	59.0	59.0					7																	57529215		692	1591	2283	SO:0001587	stop_gained	441234							g.chr7:57529215A>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1048A>T	7.37:g.57529215A>T	ENSP00000394248:p.Lys350*						p.K350*	NM_001159279	NP_001152751					4	1160	+									Nonsense_Mutation	SNP	ENST00000420713.1	37	c.1048A>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204799	0.58234	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	.	.	.	0.109	0.109	0.14578	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6217	0.12455	0.9996:0.0:4.0E-4:0.0	.	.	.	.	X	350;338	.	ENSP00000387687:K338X	K	+	1	0	ZNF716	57533157	0.669000	0.27502	0.002000	0.10522	0.002000	0.02628	3.553000	0.53713	0.156000	0.19299	0.155000	0.16302	AAA		0.398	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		4	19	0	0	0	0.009096	0	4	19				
AP1S1	1174	broad.mit.edu	37	7	100799899	100799899	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:100799899C>G	ENST00000337619.5	+	2	146	c.28C>G	c.(28-30)Cgg>Ggg	p.R10G	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	10					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					ATTATTCAGCCGGCAGGGAAA	0.527																																							uc003uxv.3		NA																	0					0						c.(28-30)CGG>GGG		adaptor-related protein complex 1, sigma 1							28.0	29.0	29.0					7																	100799899		1957	4138	6095	SO:0001583	missense	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100799899C>G	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.28C>G	7.37:g.100799899C>G	ENSP00000336666:p.Arg10Gly						p.R10G	NM_001283	NP_001274	P61966	AP1S1_HUMAN			2	138	+	Lung NSC(181;0.168)|all_lung(186;0.215)		10					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	ENST00000337619.5	37	c.28C>G	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666862	0.88251	.	.	ENSG00000106367	ENST00000337619	.	.	.	5.8	4.92	0.64577	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	M	0.93462	3.42	0.58432	D	0.999997	P	0.45240	0.854	P	0.51355	0.667	D	0.83803	0.0237	9	0.87932	D	0	-11.2598	13.1982	0.59752	0.0:0.9209:0.0:0.0791	.	10	P61966	AP1S1_HUMAN	G	10	.	ENSP00000336666:R10G	R	+	1	2	AP1S1	100586619	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.221000	0.78016	2.763000	0.94921	0.555000	0.69702	CGG		0.527	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		8	13	0	0	0	0.010729	0	8	13				
CAV2	858	broad.mit.edu	37	7	116146056	116146056	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:116146056A>T	ENST00000222693.4	+	3	762	c.370A>T	c.(370-372)Atg>Ttg	p.M124L	CAV2_ENST00000343213.2_Missense_Mutation_p.N61I|CAV2_ENST00000462876.1_3'UTR	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	124					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GACCTGCCTAATGGTTCTGCC	0.433																																							uc003vid.2		NA																	0					0						c.(370-372)ATG>TTG		caveolin 2 isoform a and b							140.0	126.0	131.0					7																	116146056		2203	4300	6503	SO:0001583	missense	858				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	g.chr7:116146056A>T	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.370A>T	7.37:g.116146056A>T	ENSP00000222693:p.Met124Leu					CAV2_uc003vhv.2_RNA|CAV2_uc003vhw.2_RNA|CAV2_uc003vhx.2_RNA|CAV2_uc010lkb.1_RNA|CAV2_uc010lkc.2_RNA|CAV2_uc003vib.2_RNA|CAV2_uc003vhz.2_RNA|CAV2_uc003via.2_RNA|CAV1_uc010lkd.1_5'UTR|CAV1_uc010lke.1_5'UTR|CAV2_uc003vie.2_Missense_Mutation_p.N61I	p.M124L	NM_001233	NP_001224	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	762	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		124			Cytoplasmic (Potential).		A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	c.370A>T	CCDS5766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.6|29.6	5.020034|5.020034	0.93462|0.93462	.|.	.|.	ENSG00000105971|ENSG00000105971	ENST00000222693|ENST00000343213	D|.	0.92149|.	-2.98|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.107851|.	0.85682|.	D|.	0.000000|.	T|T	0.70945|0.70945	0.3282|0.3282	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|D	0.24317|0.53151	0.101|0.958	B|P	0.37091|0.51135	0.241|0.66	T|T	0.74731|0.74731	-0.3566|-0.3566	9|7	0.39692|0.72032	T|D	0.17|0.01	-41.8045|-41.8045	16.5764|16.5764	0.84681|0.84681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	124|61	P51636|P51636-3	CAV2_HUMAN|.	L|I	124|61	ENSP00000222693:M124L|.	ENSP00000222693:M124L|ENSP00000345679:N61I	M|N	+|+	1|2	0|0	CAV2|CAV2	115933292|115933292	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.999000|0.999000	0.98932|0.98932	4.180000|4.180000	0.58296|0.58296	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.433	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		10	44	0	0	0	0.006214	0	10	44				
PTPRZ1	5803	broad.mit.edu	37	7	121652317	121652317	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:121652317A>T	ENST00000393386.2	+	12	3628	c.3217A>T	c.(3217-3219)Aac>Tac	p.N1073Y	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1073					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTCATGCCCAACATGTATGA	0.393																																							uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(3217-3219)AAC>TAC		protein tyrosine phosphatase, receptor-type,							110.0	113.0	112.0					7																	121652317		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652317A>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3217A>T	7.37:g.121652317A>T	ENSP00000377047:p.Asn1073Tyr					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.N1073Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	3612	+			1073			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3217A>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	8.553	0.876013	0.17395	.	.	ENSG00000106278	ENST00000393386	T	0.44482	0.92	5.13	2.01	0.26516	.	1.138180	0.06423	N	0.722756	T	0.25344	0.0616	N	0.22421	0.69	0.09310	N	0.999998	P	0.39624	0.681	B	0.31016	0.123	T	0.18681	-1.0329	10	0.66056	D	0.02	.	4.8303	0.13437	0.2199:0.1778:0.6023:0.0	.	1073	P23471	PTPRZ_HUMAN	Y	1073	ENSP00000377047:N1073Y	ENSP00000377047:N1073Y	N	+	1	0	PTPRZ1	121439553	0.782000	0.28689	0.000000	0.03702	0.825000	0.46686	2.251000	0.43187	0.079000	0.16929	0.454000	0.30748	AAC		0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		16	51	0	0	0	0.006122	0	16	51				
GRM8	2918	broad.mit.edu	37	7	126173883	126173883	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:126173883A>T	ENST00000339582.2	-	9	2361	c.1553T>A	c.(1552-1554)cTg>cAg	p.L518Q	GRM8_ENST00000358373.3_Missense_Mutation_p.L518Q|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.L518Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	518					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CTTACACGGCAGGCTGCAGAC	0.522										HNSCC(24;0.065)																													uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1552-1554)CTG>CAG		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						65.0	68.0	67.0					7																	126173883		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173883A>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1553T>A	7.37:g.126173883A>T	ENSP00000344173:p.Leu518Gln	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L518Q|GRM8_uc010lkz.1_RNA	p.L518Q	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	1864	-		Prostate(267;0.186)	518			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1553T>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	9.430	1.085268	0.20390	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89123	-2.47;-2.47;-2.47	5.8	5.8	0.92144	GPCR, family 3, nine cysteines domain (1);	0.272187	0.32401	N	0.006145	D	0.83142	0.5190	N	0.11756	0.17	0.80722	D	1	P;B	0.45474	0.859;0.005	P;B	0.46389	0.515;0.014	D	0.83499	0.0074	10	0.31617	T	0.26	.	15.3289	0.74190	1.0:0.0:0.0:0.0	.	518;518	O00222-2;O00222	.;GRM8_HUMAN	Q	518	ENSP00000344173:L518Q;ENSP00000409790:L518Q;ENSP00000351142:L518Q	ENSP00000344173:L518Q	L	-	2	0	GRM8	125961119	1.000000	0.71417	0.999000	0.59377	0.659000	0.38960	7.366000	0.79548	2.226000	0.72624	0.523000	0.50628	CTG		0.522	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			13	93	0	0	0	0.001855	0	13	93				
AKR1B10	57016	broad.mit.edu	37	7	134216666	134216666	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:134216666C>T	ENST00000359579.4	+	3	561	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	81					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GCAGTTGTGGCCCACTTTCTT	0.458																																							uc003vrr.2		NA																	0				skin(5)	5						c.(241-243)CCC>TCC		aldo-keto reductase family 1, member B10							133.0	124.0	127.0					7																	134216666		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134216666C>T	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.241C>T	7.37:g.134216666C>T	ENSP00000352584:p.Pro81Ser						p.P81S	NM_020299	NP_064695	O60218	AK1BA_HUMAN			3	561	+			81					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.241C>T	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	T	7.581	0.668699	0.14776	.	.	ENSG00000198074	ENST00000359579	T	0.22336	1.96	4.44	-4.2	0.03823	NADP-dependent oxidoreductase domain (3);	0.363720	0.30556	N	0.009363	T	0.06872	0.0175	N	0.17345	0.48	0.33488	D	0.588375	B	0.06786	0.001	B	0.10450	0.005	T	0.35871	-0.9771	10	0.08599	T	0.76	.	2.0831	0.03640	0.1254:0.1517:0.249:0.4739	.	81	O60218	AK1BA_HUMAN	S	81	ENSP00000352584:P81S	ENSP00000352584:P81S	P	+	1	0	AKR1B10	133867206	0.000000	0.05858	0.026000	0.17262	0.249000	0.25844	-1.467000	0.02352	-0.707000	0.05022	-0.273000	0.10243	CCC		0.458	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		12	54	0	0	0	0.013537	0	12	54				
MGAM	8972	broad.mit.edu	37	7	141803165	141803165	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:141803165C>T	ENST00000549489.2	+	47	5517	c.5422C>T	c.(5422-5424)Ccc>Tcc	p.P1808S	MGAM_ENST00000475668.2_Missense_Mutation_p.P2704S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1808	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGCAGTGTCCCCGTTACCAG	0.453																																							uc003vwy.2		NA																	0				ovary(2)	2						c.(5422-5424)CCC>TCC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						81.0	79.0	80.0					7																	141803165		1989	4185	6174	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141803165C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5422C>T	7.37:g.141803165C>T	ENSP00000447378:p.Pro1808Ser						p.P1808S	NM_004668	NP_004659	O43451	MGA_HUMAN			47	5476	+	Melanoma(164;0.0272)		1808			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.5422C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568953	0.28003	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.89270	-2.49	5.16	-2.47	0.06442	.	.	.	.	.	T	0.79149	0.4397	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60777	-0.7196	9	0.18710	T	0.47	.	11.248	0.49008	0.0:0.2726:0.0:0.7274	.	1808	O43451	MGA_HUMAN	S	1808;2705	ENSP00000447378:P1808S	ENSP00000373973:P1808S	P	+	1	0	MGAM	141449634	0.000000	0.05858	0.001000	0.08648	0.312000	0.27988	-0.761000	0.04751	-0.295000	0.08960	0.655000	0.94253	CCC		0.453	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			3	18	0	0	0	0.004672	0	3	18				
ZYX	7791	broad.mit.edu	37	7	143079991	143079991	+	Missense_Mutation	SNP	G	G	T	rs150223874		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:143079991G>T	ENST00000322764.5	+	5	944	c.599G>T	c.(598-600)tGg>tTg	p.W200L	ZYX_ENST00000392910.2_Missense_Mutation_p.W43L|ZYX_ENST00000449423.2_Missense_Mutation_p.W113L|ZYX_ENST00000477373.1_3'UTR|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	200					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTGCCTCCTTGGAAGTCCCCT	0.637																																							uc003wcw.2		NA																	0					0						c.(598-600)TGG>TTG		zyxin		G	LEU/TRP,LEU/TRP	0,4406		0,0,2203	61.0	68.0	65.0		599,599	3.0	1.0	7	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZYX	NM_001010972.1,NM_003461.4	61,61	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	200/573,200/573	143079991	1,13005	2203	4300	6503	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143079991G>T	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.599G>T	7.37:g.143079991G>T	ENSP00000324422:p.Trp200Leu					ZYX_uc011ktd.1_Missense_Mutation_p.W43L|ZYX_uc003wcx.2_Missense_Mutation_p.W200L|ZYX_uc011kte.1_Missense_Mutation_p.W169L|ZYX_uc011ktf.1_Missense_Mutation_p.W43L	p.W200L	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			5	754	+	Melanoma(164;0.205)		200					A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.599G>T	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396692	0.25205	0.0	1.16E-4	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000354434;ENST00000449423;ENST00000392910	T;T;T;T;T	0.52526	0.76;0.66;0.74;0.76;0.74	3.97	3.0	0.34707	.	0.573753	0.15102	U	0.280487	T	0.55449	0.1921	M	0.67953	2.075	0.28526	N	0.912832	D;D	0.54601	0.967;0.967	P;P	0.62382	0.901;0.901	T	0.48210	-0.9055	10	0.08599	T	0.76	.	7.9782	0.30168	0.0:0.0:0.7561:0.2439	.	113;200	B4DQR8;Q15942	.;ZYX_HUMAN	L	200;169;168;113;43	ENSP00000324422:W200L;ENSP00000413467:W169L;ENSP00000346417:W168L;ENSP00000394158:W113L;ENSP00000376642:W43L	ENSP00000324422:W200L	W	+	2	0	ZYX	142790113	0.429000	0.25530	0.998000	0.56505	0.948000	0.59901	0.977000	0.29475	1.748000	0.51833	0.561000	0.74099	TGG		0.637	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		11	64	1	0	0.00829132	0.008291	0.0087888	11	64				
CNTNAP2	26047	broad.mit.edu	37	7	147675028	147675028	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:147675028G>T	ENST00000361727.3	+	15	2846	c.2330G>T	c.(2329-2331)cGt>cTt	p.R777L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	777	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATACTGACCGTCAAGGCTCA	0.473										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2329-2331)CGT>CTT		cell recognition molecule Caspr2 precursor							143.0	124.0	130.0					7																	147675028		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147675028G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2330G>T	7.37:g.147675028G>T	ENSP00000354778:p.Arg777Leu	HNSCC(39;0.1)					p.R777L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		15	2846	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	777			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2330G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845996	0.91277	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.20069	2.1;2.1	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	L	0.56280	1.765	0.80722	D	1	D	0.53312	0.959	P	0.50049	0.629	T	0.03121	-1.1070	10	0.59425	D	0.04	.	17.7394	0.88403	0.0:0.0:1.0:0.0	.	777	Q9UHC6	CNTP2_HUMAN	L	777;168	ENSP00000354778:R777L;ENSP00000392208:R168L	ENSP00000354778:R777L	R	+	2	0	CNTNAP2	147305961	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	9.209000	0.95087	2.530000	0.85305	0.655000	0.94253	CGT		0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			3	60	1	0	6.4e-05	0.004672	7.25721e-05	3	60				
SSPO	23145	broad.mit.edu	37	7	149525062	149525062	+	RNA	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:149525062G>T	ENST00000378016.2	+	0	14973							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCACCTTGGGCGTCCCCACC	0.672																																							uc010lpk.2		NA																	0					0						c.(14968-14970)GGG>GGT		SCO-spondin precursor							40.0	50.0	47.0					7																	149525062		2076	4187	6263			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149525062G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149525062G>T						SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA	p.G4990G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		107	14970	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4990			VWFC 3.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.14970G>T																																																																																					0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	34	1	0	2.7689e-08	0.001984	3.41283e-08	5	34				
SOX7	83595	broad.mit.edu	37	8	10583375	10583376	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:10583375_10583376CC>AA	ENST00000304501.1	-	2	1117_1118	c.1039_1040GG>TT	c.(1039-1041)GGg>TTg	p.G347L	SOX7_ENST00000553390.1_Missense_Mutation_p.G399L|SOX7_ENST00000554914.1_Missense_Mutation_p.G399L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	347	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGCCATGGCCCCTGTGGCGGAG	0.619																																							uc003wtf.2		NA																	0				breast(1)	1						c.(1039-1041)GGG>TTG		SRY-box 7																																				SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583375_10583376CC>AA	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.1039_1040delinsAA	8.37:g.10583375_10583376delinsAA	ENSP00000301921:p.Gly347Leu					SOX7_uc011kwz.1_Missense_Mutation_p.G399L	p.G347L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	1118_1119	-			347			Sox C-terminal.		B4DKV0|Q53YD0	Missense_Mutation	DNP	ENST00000304501.1	37	c.1039_1040GG>TT	CCDS5977.1																																																																																				0.619	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			6	45	0	0	0	0.004672	0	6	45				
DCAF4L2	138009	broad.mit.edu	37	8	88885446	88885446	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:88885446C>T	ENST00000319675.3	-	1	850	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	252										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGCGCAGATCAATGCCAAAG	0.507																																							uc003ydz.2		NA																	0				ovary(1)	1						c.(754-756)GAT>AAT		WD repeat domain 21C							123.0	117.0	119.0					8																	88885446		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885446C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.754G>A	8.37:g.88885446C>T	ENSP00000316496:p.Asp252Asn						p.D252N	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	851	-			252						Missense_Mutation	SNP	ENST00000319675.3	37	c.754G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970831	0.74246	.	.	ENSG00000176566	ENST00000319675	T	0.76839	-1.05	1.92	0.926	0.19430	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.79805	2.47	0.37935	D	0.932148	D	0.89917	1.0	D	0.97110	1.0	D	0.83857	0.0266	10	0.52906	T	0.07	.	6.8844	0.24191	0.0:0.813:0.0:0.187	.	252	Q8NA75	DC4L2_HUMAN	N	252	ENSP00000316496:D252N	ENSP00000316496:D252N	D	-	1	0	DCAF4L2	88954562	1.000000	0.71417	0.183000	0.23137	0.375000	0.29983	3.510000	0.53393	0.750000	0.32877	0.467000	0.42956	GAT		0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		12	151	0	0	0	0.00245	0	12	151				
CSMD3	114788	broad.mit.edu	37	8	113237134	113237134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:113237134C>A	ENST00000297405.5	-	71	11234	c.10990G>T	c.(10990-10992)Gga>Tga	p.G3664*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G3594*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G3624*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G3495*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3664						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGAACATCCTGTATACTGT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10990-10992)GGA>TGA		CUB and Sushi multiple domains 3 isoform 1							319.0	290.0	300.0					8																	113237134		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113237134C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10990G>T	8.37:g.113237134C>A	ENSP00000297405:p.Gly3664*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.G2866*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G3624*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G3495*	p.G3664*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			71	11149	-			3664			Cytoplasmic (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.10990G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	52	19.592390	0.99921	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4694	0.94956	0.0:1.0:0.0:0.0	.	.	.	.	X	3624;3664;2934;3495;3594	.	ENSP00000297405:G3664X	G	-	1	0	CSMD3	113306310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.701000	0.84566	2.587000	0.87381	0.591000	0.81541	GGA		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	191	1	0	1.52009e-12	0.003163	2.10627e-12	13	191				
TRPS1	7227	broad.mit.edu	37	8	116599521	116599521	+	Missense_Mutation	SNP	G	G	A	rs377383496		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:116599521G>A	ENST00000220888.5	-	4	2527	c.2368C>T	c.(2368-2370)Cgc>Tgc	p.R790C	TRPS1_ENST00000395715.3_Missense_Mutation_p.R803C|TRPS1_ENST00000519076.1_Missense_Mutation_p.R544C|TRPS1_ENST00000520276.1_Missense_Mutation_p.R794C|TRPS1_ENST00000519674.1_Missense_Mutation_p.R790C			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	790	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTCACATTGCGAAGGTCATCA	0.567									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2368-2370)CGC>TGC		zinc finger transcription factor TRPS1							261.0	268.0	266.0					8																	116599521		1978	4144	6122	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599521G>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2368C>T	8.37:g.116599521G>A	ENSP00000220888:p.Arg790Cys					TRPS1_uc011lhy.1_Missense_Mutation_p.R794C|TRPS1_uc003yny.2_Missense_Mutation_p.R803C|TRPS1_uc010mcy.2_Missense_Mutation_p.R790C	p.R790C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2827	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		790			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2368C>T		.	.	.	.	.	.	.	.	.	.	G	14.78	2.638176	0.47153	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98777	-5.13;-5.1;-5.06;-5.1;0.59	5.76	4.81	0.61882	.	0.117655	0.56097	D	0.000025	D	0.98273	0.9428	L	0.29908	0.895	0.54753	D	0.99998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.967;0.928;0.967	D	0.99731	1.1012	10	0.87932	D	0	.	17.5288	0.87808	0.0:0.0:0.8678:0.1322	.	794;790;803	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	C	803;790;544;794;790	ENSP00000379065:R803C;ENSP00000220888:R790C;ENSP00000428910:R544C;ENSP00000428680:R794C;ENSP00000429174:R790C	ENSP00000220888:R790C	R	-	1	0	TRPS1	116668696	1.000000	0.71417	0.982000	0.44146	0.326000	0.28443	4.657000	0.61490	2.726000	0.93360	0.655000	0.94253	CGC		0.567	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		55	588	0	0	0	0.01441	0	55	588				
TAF2	6873	broad.mit.edu	37	8	120758944	120758944	+	Splice_Site	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:120758944C>A	ENST00000378164.2	-	23	3407		c.e23+1		TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGATTCTTACAGGGTTCTGA	0.388																																							uc003you.2		NA																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.e23+1		TBP-associated factor 2							182.0	181.0	181.0					8																	120758944		2203	4300	6503	SO:0001630	splice_region_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120758944C>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3108+1G>T	8.37:g.120758944C>A							p.P1036_splice	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		23	3378	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)							B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Splice_Site	SNP	ENST00000378164.2	37	c.3108_splice	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220573	0.39201	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7818	0.91937	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF2	120828125	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	5.711000	0.68400	2.677000	0.91161	0.563000	0.77884	.		0.388	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	Intron	92	94	1	0	1.41191e-52	0.01441	2.32034e-52	92	94				
OC90	729330	broad.mit.edu	37	8	133053374	133053374	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:133053374T>A	ENST00000443356.2	-	6	460	c.374A>T	c.(373-375)gAg>gTg	p.E125V	OC90_ENST00000262283.5_Missense_Mutation_p.E321V|OC90_ENST00000254627.3_Missense_Mutation_p.E125V|OC90_ENST00000603859.1_Missense_Mutation_p.E125V			Q02509	OC90_HUMAN	otoconin 90	125	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGCGGCCTCCTCATAGCACCT	0.567																																							uc003ytg.2		NA																	0				ovary(2)|skin(1)	3						c.(325-327)GAG>GTG		otoconin 90							99.0	99.0	99.0					8																	133053374		1963	4157	6120	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053374T>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.374A>T	8.37:g.133053374T>A	ENSP00000390050:p.Glu125Val					OC90_uc011lix.1_Missense_Mutation_p.E125V	p.E109V	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		4	326	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		125			Phospholipase A2-like 1.		B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.326A>T		.	.	.	.	.	.	.	.	.	.	T	24.2	4.508268	0.85282	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.27890	1.64;1.64;1.64	5.61	5.61	0.85477	Phospholipase A2 (3);	0.147401	0.44097	D	0.000500	T	0.58538	0.2129	M	0.81614	2.55	0.39325	D	0.965311	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.65792	-0.6082	10	0.72032	D	0.01	-28.2753	15.0267	0.71674	0.0:0.0:0.0:1.0	.	125;125	Q02509-2;Q02509	.;OC90_HUMAN	V	125;125;321	ENSP00000254627:E125V;ENSP00000390050:E125V;ENSP00000262283:E321V	ENSP00000254627:E125V	E	-	2	0	RP11-240B13.2;OC90	133122556	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.606000	0.67641	2.156000	0.67533	0.477000	0.44152	GAG		0.567	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		84	89	0	0	0	0.01441	0	84	89				
JAK2	3717	broad.mit.edu	37	9	5080270	5080270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:5080270G>T	ENST00000381652.3	+	17	2667	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*	AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E725*|JAK2_ENST00000544510.1_Nonsense_Mutation_p.E576*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	725	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGAATGCATTGAAAATCCTAA	0.363		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																														uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	0				haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(2173-2175)GAA>TAA		Janus kinase 2							124.0	142.0	136.0					9																	5080270		2203	4300	6503	SO:0001587	stop_gained	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5080270G>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2173G>T	9.37:g.5080270G>T	ENSP00000371067:p.Glu725*					JAK2_uc003ziw.2_Nonsense_Mutation_p.E725*	p.E725*	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	16	2286	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	725			Protein kinase 1.		O14636|O75297	Nonsense_Mutation	SNP	ENST00000381652.3	37	c.2173G>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	42	9.581578	0.99211	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.87	5.87	0.94306	.	0.313754	0.38381	N	0.001712	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-24.2636	20.1991	0.98252	0.0:0.0:1.0:0.0	.	.	.	.	X	725;725;576	.	ENSP00000371067:E725X	E	+	1	0	JAK2	5070270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.961000	0.63681	2.775000	0.95449	0.650000	0.86243	GAA		0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			53	84	1	0	1.78197e-24	0.01441	2.79835e-24	53	84				
PTPRD	5789	broad.mit.edu	37	9	8340408	8340408	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:8340408G>A	ENST00000381196.4	-	39	5731	c.5188C>T	c.(5188-5190)Cgg>Tgg	p.R1730W	PTPRD_ENST00000540109.1_Missense_Mutation_p.R1730W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1730W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1320W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1324W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1717W|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1708W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1323W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1323W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1323W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1320W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1730	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAGAGCATCCGCCAGAAGTCT	0.473										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(5188-5190)CGG>TGG		protein tyrosine phosphatase, receptor type, D							127.0	107.0	114.0					9																	8340408		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8340408G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5188C>T	9.37:g.8340408G>A	ENSP00000370593:p.Arg1730Trp	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.R1324W|PTPRD_uc003zkq.2_Missense_Mutation_p.R1323W|PTPRD_uc003zkr.2_Missense_Mutation_p.R1314W|PTPRD_uc003zks.2_Missense_Mutation_p.R1323W|PTPRD_uc003zkl.2_Missense_Mutation_p.R1721W|PTPRD_uc003zkm.2_Missense_Mutation_p.R1717W|PTPRD_uc003zkn.2_Missense_Mutation_p.R1319W|PTPRD_uc003zko.2_Missense_Mutation_p.R1320W	p.R1730W	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	5899	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1730			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5188C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641000	0.67244	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.98	2.83	0.33086	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	H	0.97131	3.945	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D	0.95884	0.8901	9	.	.	.	.	14.6372	0.68699	0.0:0.0:0.314:0.686	.	1323;1314;1323;1324;1320;1320;1717;1730;1730	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	W	1730;1730;1717;1708;1324;1323;1320;1320;1201;1730;1323;1323	ENSP00000370593:R1730W;ENSP00000348812:R1730W;ENSP00000353187:R1717W;ENSP00000351293:R1708W;ENSP00000347373:R1324W;ENSP00000380741:R1323W;ENSP00000380735:R1320W;ENSP00000440515:R1320W;ENSP00000438164:R1730W;ENSP00000417093:R1323W;ENSP00000380731:R1323W	.	R	-	1	2	PTPRD	8330408	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.859000	0.55987	0.731000	0.32448	-0.196000	0.12772	CGG		0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			5	33	0	0	0	0.000602	0	5	33				
INVS	27130	broad.mit.edu	37	9	102888823	102888823	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:102888823G>T	ENST00000262457.2	+	3	450	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	INVS_ENST00000374921.3_Missense_Mutation_p.A89S|INVS_ENST00000460636.2_3'UTR|INVS_ENST00000541287.1_5'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.A89S	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	89					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CCATCTTGCAGCCCAGAAGGT	0.428																																							uc004bap.1		NA																	0				ovary(2)	2						c.(265-267)GCC>TCC		inversin isoform a							87.0	82.0	84.0					9																	102888823		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:102888823G>T	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.265G>T	9.37:g.102888823G>T	ENSP00000262457:p.Ala89Ser					INVS_uc010mta.1_5'UTR|INVS_uc011lve.1_5'UTR|INVS_uc004bao.1_Missense_Mutation_p.A89S|INVS_uc004baq.1_5'UTR|INVS_uc004bar.1_5'UTR|INVS_uc010mtb.1_5'UTR	p.A89S	NM_014425	NP_055240	Q9Y283	INVS_HUMAN			3	477	+		Acute lymphoblastic leukemia(62;0.056)	89			ANK 3.		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.265G>T	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486527	0.84854	.	.	ENSG00000119509	ENST00000262457;ENST00000262456;ENST00000374921	T;T;T	0.68903	-0.36;-0.36;-0.36	4.74	4.74	0.60224	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	L	0.43646	1.37	0.80722	D	1	P;P	0.49635	0.926;0.532	P;B	0.51895	0.683;0.284	T	0.67213	-0.5727	10	0.33940	T	0.23	.	16.2673	0.82597	0.0:0.0:1.0:0.0	.	89;89	Q9Y283;Q9Y283-2	INVS_HUMAN;.	S	89	ENSP00000262457:A89S;ENSP00000262456:A89S;ENSP00000364056:A89S	ENSP00000262456:A89S	A	+	1	0	INVS	101928644	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.441000	0.97557	2.349000	0.79799	0.563000	0.77884	GCC		0.428	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		17	45	1	0	7.45023e-12	0.010504	1.01247e-11	17	45				
C9orf91	203197	broad.mit.edu	37	9	117400932	117400932	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:117400932G>T	ENST00000288502.4	+	8	1212	c.775G>T	c.(775-777)Ggc>Tgc	p.G259C	C9orf91_ENST00000374049.4_Missense_Mutation_p.G260C			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	259						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TCTCCTGCCCGGCAATTCTTG	0.577																																							uc004bjd.3		NA																	0				pancreas(1)	1						c.(775-777)GGC>TGC		hypothetical protein LOC203197							109.0	94.0	99.0					9																	117400932		2203	4300	6503	SO:0001583	missense	203197					integral to membrane		g.chr9:117400932G>T	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.775G>T	9.37:g.117400932G>T	ENSP00000288502:p.Gly259Cys					C9orf91_uc004bje.3_Missense_Mutation_p.G238C|C9orf91_uc004bjf.3_Missense_Mutation_p.G158C	p.G259C	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN			8	992	+			259					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	c.775G>T	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703556	0.48412	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	6.0	-1.39	0.08997	.	0.984542	0.08347	N	0.959935	T	0.26195	0.0639	N	0.14661	0.345	0.09310	N	0.999997	P;P	0.43857	0.819;0.819	P;P	0.44359	0.447;0.447	T	0.35226	-0.9797	9	0.72032	D	0.01	-22.0169	10.8289	0.46649	0.4529:0.0:0.5471:0.0	.	238;259	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	C	260;259	.	ENSP00000288502:G259C	G	+	1	0	C9orf91	116440753	0.000000	0.05858	0.011000	0.14972	0.003000	0.03518	-0.124000	0.10595	-0.188000	0.10499	-0.377000	0.06932	GGC		0.577	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		5	61	1	0	5.9392e-07	0.001168	6.95641e-07	5	61				
INPP5E	56623	broad.mit.edu	37	9	139327515	139327515	+	Missense_Mutation	SNP	G	G	C	rs201481645		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:139327515G>C	ENST00000371712.3	-	5	1574	c.1172C>G	c.(1171-1173)tCc>tGc	p.S391C		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGTCACCGTGGAGCACTCCAC	0.632																																							uc004cho.2		NA																	0				skin(1)	1						c.(1171-1173)TCC>TGC		inositol polyphosphate-5-phosphatase E							143.0	134.0	137.0					9																	139327515		2202	4300	6502	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139327515G>C	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1172C>G	9.37:g.139327515G>C	ENSP00000360777:p.Ser391Cys					INPP5E_uc010nbm.2_Missense_Mutation_p.S391C	p.S391C	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	5	1557	-		Myeloproliferative disorder(178;0.0511)	391					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.1172C>G	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840946	0.71488	.	.	ENSG00000148384	ENST00000371712	T	0.79749	-1.3	4.82	4.82	0.62117	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.275032	0.32970	N	0.005433	D	0.84370	0.5457	M	0.72118	2.19	0.41580	D	0.988731	D;D	0.65815	0.995;0.963	P;P	0.53035	0.698;0.716	D	0.86504	0.1805	10	0.72032	D	0.01	-30.391	12.3646	0.55222	0.0:0.0:0.8314:0.1686	.	357;391	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	C	391	ENSP00000360777:S391C	ENSP00000360777:S391C	S	-	2	0	INPP5E	138447336	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.137000	0.77295	2.387000	0.81309	0.561000	0.74099	TCC		0.632	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		17	33	0	0	0	0.008871	0	17	33				
MXRA5	25878	broad.mit.edu	37	X	3228353	3228353	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:3228353G>T	ENST00000217939.6	-	7	8045	c.7891C>A	c.(7891-7893)Ctg>Atg	p.L2631M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2631						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCACCTTCAGGGAGACCAGC	0.622																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(7891-7893)CTG>ATG		adlican precursor							29.0	28.0	28.0					X																	3228353		2198	4286	6484	SO:0001583	missense	25878					extracellular region		g.chrX:3228353G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7891C>A	X.37:g.3228353G>T	ENSP00000217939:p.Leu2631Met						p.L2631M	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	8048	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2631					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7891C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	7.945	0.743628	0.15642	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.98633	-5.04	4.23	3.11	0.35812	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.31673	U	0.007257	D	0.99080	0.9684	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95198	0.8314	10	0.72032	D	0.01	.	9.3523	0.38145	0.273:0.0:0.727:0.0	.	2631	Q9NR99	MXRA5_HUMAN	M	2631	ENSP00000217939:L2631M	ENSP00000217939:L2631M	L	-	1	2	MXRA5	3238353	0.983000	0.35010	0.093000	0.20910	0.011000	0.07611	1.852000	0.39348	1.736000	0.51660	0.597000	0.82753	CTG		0.622	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	36	1	0	1.5739e-10	0.004007	2.05967e-10	14	36				
MXRA5	25878	broad.mit.edu	37	X	3238388	3238388	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:3238388G>A	ENST00000217939.6	-	5	5492	c.5338C>T	c.(5338-5340)Ctg>Ttg	p.L1780L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1780						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCAAAGTCCAGATGGAAGGTG	0.522																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5338-5340)CTG>TTG		adlican precursor							91.0	83.0	85.0					X																	3238388		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3238388G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5338C>T	X.37:g.3238388G>A							p.L1780L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5495	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1780					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.5338C>T	CCDS14124.1																																																																																				0.522	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		11	33	0	0	0	0.001855	0	11	33				
NLGN4X	57502	broad.mit.edu	37	X	6069327	6069327	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:6069327G>T	ENST00000381095.3	-	2	808	c.181C>A	c.(181-183)Ccg>Acg	p.P61T	NLGN4X_ENST00000381093.2_Missense_Mutation_p.P61T|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P61T|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P61T|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P61T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	61					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTGGGTAACGGTGTTCTTAGG	0.537																																							uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(181-183)CCG>ACG		X-linked neuroligin 4 precursor							112.0	95.0	101.0					X																	6069327		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:6069327G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.181C>A	X.37:g.6069327G>T	ENSP00000370485:p.Pro61Thr					NLGN4X_uc004crp.2_Missense_Mutation_p.P61T|NLGN4X_uc004crq.2_Missense_Mutation_p.P61T|NLGN4X_uc010ndi.2_Missense_Mutation_p.P61T|NLGN4X_uc004crr.2_Missense_Mutation_p.P61T|NLGN4X_uc010ndj.2_Missense_Mutation_p.P61T	p.P61T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			2	682	-			61			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.181C>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	3.123	-0.180109	0.06380	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.07	4.07	0.47477	Carboxylesterase, type B (1);	.	.	.	.	T	0.39937	0.1097	N	0.04320	-0.23	0.39473	D	0.967759	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.14023	0.01;0.005;0.002	T	0.25745	-1.0123	9	0.23891	T	0.37	.	14.7707	0.69675	0.0:0.0:1.0:0.0	.	61;61;61	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	T	61	ENSP00000370485:P61T;ENSP00000370483:P61T;ENSP00000275857:P61T;ENSP00000370482:P61T;ENSP00000439203:P61T	ENSP00000275857:P61T	P	-	1	0	NLGN4X	6079327	1.000000	0.71417	0.171000	0.22900	0.105000	0.19272	2.149000	0.42244	1.652000	0.50683	0.513000	0.50165	CCG		0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		7	92	1	0	2.0095e-06	0.001984	2.34073e-06	7	92				
SYTL5	94122	broad.mit.edu	37	X	37969597	37969597	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:37969597G>A	ENST00000357972.5	+	13	2004	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	SYTL5_ENST00000297875.2_Silent_p.L486L|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Silent_p.L508L			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	486	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ATACCCAGCTGGAAACAAGAA	0.453																																							uc004ddu.2		NA																	0				skin(1)	1						c.(1456-1458)CTG>CTA		synaptotagmin-like 5 isoform 1							140.0	110.0	120.0					X																	37969597		2202	4300	6502	SO:0001819	synonymous_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37969597G>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1458G>A	X.37:g.37969597G>A						SYTL5_uc004ddv.2_Silent_p.L486L|SYTL5_uc004ddx.2_Silent_p.L508L	p.L486L	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			14	1992	+			486			C2 1.		A2RRF2	Silent	SNP	ENST00000357972.5	37	c.1458G>A	CCDS14244.1																																																																																				0.453	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		13	62	0	0	0	0.001855	0	13	62				
DUSP21	63904	broad.mit.edu	37	X	44703617	44703617	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:44703617G>A	ENST00000339042.4	+	1	369	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	80	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGTGACTCGCGTCTCTACGAC	0.537																																							uc004dgd.2		NA																	0				large_intestine(1)|lung(1)	2						c.(238-240)CGT>CAT		dual specificity phosphatase 21							198.0	155.0	170.0					X																	44703617		2203	4300	6503	SO:0001583	missense	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703617G>A	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.239G>A	X.37:g.44703617G>A	ENSP00000343244:p.Arg80His						p.R80H	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			1	369	+			80			Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).		Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	c.239G>A	CCDS14264.1	.	.	.	.	.	.	.	.	.	.	g	7.957	0.746152	0.15710	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	T	0.60424	0.19	3.82	-2.47	0.06442	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.851413	0.10685	N	0.645909	T	0.47395	0.1443	M	0.62209	1.925	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.39099	-0.9630	10	0.45353	T	0.12	.	5.3013	0.15780	0.464:0.1451:0.391:0.0	.	80	Q9H596	DUS21_HUMAN	H	80;79	ENSP00000343244:R80H	ENSP00000343244:R80H	R	+	2	0	DUSP21	44588561	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.596000	0.24044	-0.670000	0.05282	-0.989000	0.02550	CGT		0.537	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		15	124	0	0	0	0.00499	0	15	124				
JADE3	9767	broad.mit.edu	37	X	46913915	46913915	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:46913915A>G	ENST00000218343.4	+	9	1626	c.1328A>G	c.(1327-1329)aAt>aGt	p.N443S	PHF16_ENST00000397189.1_Missense_Mutation_p.N443S	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGTAACTTCAATAAGCCATTA	0.453																																							uc004dgx.2		NA																	0					0						c.(1327-1329)AAT>AGT		PHD finger protein 16							42.0	42.0	42.0					X																	46913915		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913915A>G																												ENST00000218343.4:c.1328A>G	X.37:g.46913915A>G	ENSP00000218343:p.Asn443Ser					PHF16_uc004dgy.2_Missense_Mutation_p.N443S	p.N443S	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			9	1379	+			443						Missense_Mutation	SNP	ENST00000218343.4	37	c.1328A>G	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319556	0.81469	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.54279	0.58;0.58	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75354	0.3838	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80322	-0.1431	10	0.66056	D	0.02	.	14.2593	0.66073	1.0:0.0:0.0:0.0	.	443	Q92613	JADE3_HUMAN	S	443	ENSP00000380373:N443S;ENSP00000218343:N443S	ENSP00000218343:N443S	N	+	2	0	PHF16	46798859	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.807000	0.91935	1.813000	0.52934	0.486000	0.48141	AAT		0.453	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			11	39	0	0	0	0.008291	0	11	39				
GATA1	2623	broad.mit.edu	37	X	48652249	48652249	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:48652249G>T	ENST00000376670.3	+	6	1031	c.920G>T	c.(919-921)cGc>cTc	p.R307L	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	307					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ACTCGAAACCGCAAGGCATCT	0.587			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	Pancreas(9;429 505 11287 29617)	uc004dkq.3		NA		Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		0				haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(919-921)CGC>CTC		GATA binding protein 1							30.0	27.0	28.0					X																	48652249		2203	4299	6502	SO:0001583	missense	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48652249G>T	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.920G>T	X.37:g.48652249G>T	ENSP00000365858:p.Arg307Leu						p.R307L	NM_002049	NP_002040	P15976	GATA1_HUMAN			6	1011	+			307					Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	c.920G>T	CCDS14305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.3|22.3	4.269957|4.269957	0.80469|0.80469	.|.	.|.	ENSG00000102145|ENSG00000102145	ENST00000447551|ENST00000376670	.|D	.|0.99674	.|-6.36	3.94|3.94	3.07|3.07	0.35406|0.35406	.|Zinc finger, NHR/GATA-type (1);	.|0.065597	.|0.64402	.|U	.|0.000012	D|D	0.99609|0.99609	0.9858|0.9858	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.83275	.|0.996	D|D	0.99113|0.99113	1.0847|1.0847	5|10	.|0.87932	.|D	.|0	-7.541|-7.541	8.5862|8.5862	0.33660|0.33660	0.1189:0.0:0.8811:0.0|0.1189:0.0:0.8811:0.0	.|.	.|307	.|P15976	.|GATA1_HUMAN	S|L	72|307	.|ENSP00000365858:R307L	.|ENSP00000365858:R307L	A|R	+|+	1|2	0|0	GATA1|GATA1	48537193|48537193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	7.349000|7.349000	0.79376|0.79376	0.697000|0.697000	0.31718|0.31718	0.365000|0.365000	0.22127|0.22127	GCA|CGC		0.587	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		3	13	1	0	0.00024832	0.009096	0.000277073	3	13				
OPHN1	4983	broad.mit.edu	37	X	67426434	67426434	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:67426434T>A	ENST00000355520.5	-	10	1555	c.914A>T	c.(913-915)cAg>cTg	p.Q305L	OPHN1_ENST00000540071.1_Missense_Mutation_p.Q305L	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	305	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ACCTGGCTTCTGCTCCATAGG	0.408																																							uc004dww.3		NA																	0				ovary(2)	2						c.(913-915)CAG>CTG		oligophrenin 1							230.0	183.0	199.0					X																	67426434		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67426434T>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.914A>T	X.37:g.67426434T>A	ENSP00000347710:p.Gln305Leu					OPHN1_uc011mpg.1_Missense_Mutation_p.Q305L	p.Q305L	NM_002547	NP_002538	O60890	OPHN1_HUMAN			10	1208	-			305			PH.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.914A>T	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.182502	0.38511	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.43688	0.94;0.94	4.58	4.58	0.56647	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.39397	1.21	0.50467	D	0.99987	P;D	0.57899	0.73;0.981	B;D	0.69824	0.263;0.966	T	0.51505	-0.8697	10	0.49607	T	0.09	.	11.1221	0.48296	0.0:0.0:0.0:1.0	.	305;305	F5H2E3;O60890	.;OPHN1_HUMAN	L	305	ENSP00000347710:Q305L;ENSP00000438617:Q305L	ENSP00000347710:Q305L	Q	-	2	0	OPHN1	67343159	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.212000	0.51145	1.826000	0.53198	0.350000	0.21858	CAG		0.408	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		17	40	0	0	0	0.00499	0	17	40				
TEX11	56159	broad.mit.edu	37	X	69825332	69825332	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:69825332C>A	ENST00000395889.2	-	25	2186	c.2031G>T	c.(2029-2031)ctG>ctT	p.L677L	TEX11_ENST00000374333.2_Silent_p.L662L|TEX11_ENST00000374320.2_Silent_p.L352L|TEX11_ENST00000344304.3_Silent_p.L677L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	677					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.L662L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCGTGCAATCAGAATTACTT	0.388																																							uc004dyl.2		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(3)|breast(1)|skin(1)	5						c.(2029-2031)CTG>CTT		testis expressed sequence 11 isoform 1							117.0	96.0	103.0					X																	69825332		2203	4300	6503	SO:0001819	synonymous_variant	56159						protein binding	g.chrX:69825332C>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2031G>T	X.37:g.69825332C>A						TEX11_uc004dyk.2_Silent_p.L352L|TEX11_uc004dym.2_Silent_p.L662L	p.L677L	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			25	2193	-	Renal(35;0.156)		677					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	c.2031G>T	CCDS35323.1																																																																																				0.388	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			8	58	1	0	0.00307968	0.00308	0.00334816	8	58				
ATP7A	538	broad.mit.edu	37	X	77298834	77298834	+	Missense_Mutation	SNP	T	T	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:77298834T>G	ENST00000341514.6	+	21	4180	c.4025T>G	c.(4024-4026)gTg>gGg	p.V1342G	ATP7A_ENST00000350425.4_Missense_Mutation_p.V345G|ATP7A_ENST00000343533.5_Missense_Mutation_p.V1264G	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1342					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTGGATGTAGTGGCAAGTATT	0.338																																							uc004ecx.3		NA																	0					0						c.(4024-4026)GTG>GGG		ATPase, Cu++ transporting, alpha polypeptide							134.0	131.0	132.0					X																	77298834		2203	4300	6503	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77298834T>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4025T>G	X.37:g.77298834T>G	ENSP00000345728:p.Val1342Gly						p.V1342G	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			21	4185	+			1342			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4025T>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522718	0.64747	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.99537	-6.11;-6.11;-6.11	5.21	4.02	0.46733	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	M	0.72576	2.205	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.99091	1.0840	10	0.87932	D	0	-8.1614	10.6118	0.45425	0.1462:0.0:0.0:0.8538	.	1342	Q04656	ATP7A_HUMAN	G	1264;345;1342	ENSP00000343026:V1264G;ENSP00000343678:V345G;ENSP00000345728:V1342G	ENSP00000345728:V1342G	V	+	2	0	ATP7A	77185490	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.611000	0.82962	0.605000	0.29947	-0.405000	0.06341	GTG		0.338	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		6	110	0	0	0	0.00308	0	6	110				
PCDH11X	27328	broad.mit.edu	37	X	91133872	91133872	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:91133872C>A	ENST00000373094.1	+	2	3478	c.2633C>A	c.(2632-2634)cCt>cAt	p.P878H	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P878H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P878H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P878H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P878H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	878					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						aagCATTCCCCTAAGAACTTG	0.388																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(2632-2634)CCT>CAT		protocadherin 11 X-linked isoform c							99.0	89.0	92.0					X																	91133872		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133872C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2633C>A	X.37:g.91133872C>A	ENSP00000362186:p.Pro878His					PCDH11X_uc004efl.1_Missense_Mutation_p.P878H|PCDH11X_uc004efo.1_Missense_Mutation_p.P878H|PCDH11X_uc010nmv.1_Missense_Mutation_p.P878H|PCDH11X_uc004efm.1_Missense_Mutation_p.P878H|PCDH11X_uc004efn.1_Missense_Mutation_p.P878H|PCDH11X_uc004efh.1_Missense_Mutation_p.P878H|PCDH11X_uc004efj.1_Missense_Mutation_p.P878H	p.P878H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3478	+			878			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2633C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498733	0.44455	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.16	5.16	0.70880	Protocadherin (1);	0.113750	0.64402	D	0.000010	T	0.57242	0.2040	M	0.76328	2.33	0.46279	D	0.998966	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.992;0.996;0.996;0.996;0.996;0.997;0.992;0.992	T	0.62756	-0.6787	10	0.87932	D	0	.	16.6257	0.84969	0.0:1.0:0.0:0.0	.	878;878;878;878;878;878;878;878	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	878	ENSP00000378746:P878H;ENSP00000362186:P878H;ENSP00000362189:P878H;ENSP00000355040:P878H;ENSP00000362180:P878H;ENSP00000423762:P878H;ENSP00000355105:P878H;ENSP00000384758:P878H;ENSP00000298274:P878H	ENSP00000298274:P878H	P	+	2	0	PCDH11X	91020528	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.209000	0.77916	2.127000	0.65507	0.600000	0.82982	CCT		0.388	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		14	35	1	0	1.05317e-09	0.00245	1.35316e-09	14	35				
GPRASP1	9737	broad.mit.edu	37	X	101912229	101912229	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:101912229A>G	ENST00000361600.5	+	5	4189	c.3388A>G	c.(3388-3390)Agg>Ggg	p.R1130G	GPRASP1_ENST00000415986.1_Missense_Mutation_p.R1130G|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R1130G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.R1130G	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1130	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGCATCTTAGGGCCAAGGA	0.433																																							uc004ejj.3		NA																	0				ovary(1)|lung(1)	2						c.(3388-3390)AGG>GGG		G protein-coupled receptor associated sorting							117.0	105.0	109.0					X																	101912229		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912229A>G	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3388A>G	X.37:g.101912229A>G	ENSP00000355146:p.Arg1130Gly					GPRASP1_uc004eji.3_Missense_Mutation_p.R1130G|GPRASP1_uc010nod.2_Missense_Mutation_p.R1130G	p.R1130G	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	4189	+			1130			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3388A>G	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	4.150	0.026180	0.08054	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	2.41	2.41	0.29592	Armadillo-type fold (1);	.	.	.	.	T	0.11665	0.0284	L	0.46157	1.445	0.21325	N	0.999728	P	0.38922	0.651	B	0.35859	0.212	T	0.19257	-1.0311	9	0.66056	D	0.02	-1.3628	6.0109	0.19575	1.0:0.0:0.0:0.0	.	1130	Q5JY77	GASP1_HUMAN	G	1130	ENSP00000393691:R1130G;ENSP00000409420:R1130G;ENSP00000355146:R1130G;ENSP00000445683:R1130G	ENSP00000355146:R1130G	R	+	1	2	GPRASP1	101798885	0.978000	0.34361	0.875000	0.34327	0.462000	0.32619	3.278000	0.51662	1.208000	0.43306	0.235000	0.17854	AGG		0.433	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		7	112	0	0	0	0.00308	0	7	112				
ZCCHC12	170261	broad.mit.edu	37	X	117960320	117960320	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:117960320G>T	ENST00000310164.2	+	4	1620	c.1113G>T	c.(1111-1113)gaG>gaT	p.E371D		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	371					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGGTTTTTGAGAATTTGATCA	0.498																																							uc004equ.2		NA																	0				ovary(1)	1						c.(1111-1113)GAG>GAT		zinc finger, CCHC domain containing 12							90.0	79.0	83.0					X																	117960320		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960320G>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1113G>T	X.37:g.117960320G>T	ENSP00000308921:p.Glu371Asp						p.E371D	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1586	+			371					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.1113G>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605546	0.46527	.	.	ENSG00000174460	ENST00000310164	T	0.36157	1.27	3.16	2.29	0.28610	.	.	.	.	.	T	0.55016	0.1894	M	0.78223	2.4	0.26514	N	0.974559	D	0.67145	0.996	D	0.75484	0.986	T	0.40384	-0.9566	9	0.66056	D	0.02	-19.4582	5.5046	0.16846	0.1575:0.0:0.8425:0.0	.	371	Q6PEW1	ZCH12_HUMAN	D	371	ENSP00000308921:E371D	ENSP00000308921:E371D	E	+	3	2	ZCCHC12	117844348	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	0.576000	0.23744	0.719000	0.32188	0.600000	0.82982	GAG		0.498	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		11	49	1	0	0.000673444	0.008291	0.000739742	11	49				
SH2D1A	4068	broad.mit.edu	37	X	123480601	123480601	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:123480601G>T	ENST00000371139.4	+	1	408	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L	SH2D1A_ENST00000360027.4_Missense_Mutation_p.V37L|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR|SH2D1A_ENST00000477673.2_Missense_Mutation_p.V37L	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	37	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGCGAGAGCGTGCCAGGCGT	0.602																																							uc004euf.3		NA																	0					0						c.(109-111)GTG>TTG		SH2 domain protein 1A isoform 1							171.0	127.0	142.0					X																	123480601		2203	4300	6503	SO:0001583	missense	4068	X-linked_Lymphoproliferative_syndrome			cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123480601G>T	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.109G>T	X.37:g.123480601G>T	ENSP00000360181:p.Val37Leu					SH2D1A_uc004euh.3_Missense_Mutation_p.V37L|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron	p.V37L	NM_002351	NP_002342	O60880	SH21A_HUMAN			1	454	+			37			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.109G>T	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029097	0.35797	.	.	ENSG00000183918	ENST00000371139;ENST00000360027;ENST00000394475	D;D	0.88277	-2.36;-2.36	4.98	4.12	0.48240	SH2 motif (4);	0.376184	0.28784	N	0.014155	T	0.80303	0.4598	L	0.37507	1.11	0.40573	D	0.981323	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.70178	-0.4943	10	0.16896	T	0.51	-24.318	6.5122	0.22228	0.2153:0.0:0.7847:0.0	.	37;37	O60880-4;O60880	.;SH21A_HUMAN	L	37	ENSP00000360181:V37L;ENSP00000353126:V37L	ENSP00000353126:V37L	V	+	1	0	SH2D1A	123308282	0.975000	0.34042	0.717000	0.30585	0.872000	0.50106	0.855000	0.27805	1.083000	0.41159	0.513000	0.50165	GTG		0.602	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		11	97	1	0	6.40141e-05	0.010729	7.25721e-05	11	97				
FMR1	2332	broad.mit.edu	37	X	147027066	147027066	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:147027066A>T	ENST00000370475.4	+	16	1795	c.1667A>T	c.(1666-1668)cAc>cTc	p.H556L	FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000218200.8_Missense_Mutation_p.H535L|FMR1_ENST00000370471.3_Missense_Mutation_p.T466S|FMR1_ENST00000440235.2_Missense_Mutation_p.H203L|FMR1_ENST00000439526.2_Missense_Mutation_p.H533L|FMR1_ENST00000370470.1_Missense_Mutation_p.H531L|FMR1_ENST00000370477.1_Missense_Mutation_p.H523L	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	556	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AACGACGATCACTCCCGAACA	0.398									Fragile X syndrome																														uc010nst.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1666-1668)CAC>CTC		fragile X mental retardation 1							115.0	97.0	103.0					X																	147027066		2203	4300	6503	SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147027066A>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1667A>T	X.37:g.147027066A>T	ENSP00000359506:p.His556Leu					FMR1_uc004fcj.2_Missense_Mutation_p.H533L|FMR1_uc004fck.3_Missense_Mutation_p.H510L|FMR1_uc004fcl.3_Missense_Mutation_p.H396L|FMR1_uc011mxa.1_Missense_Mutation_p.H203L	p.H556L	NM_002024	NP_002015	Q06787	FMR1_HUMAN			16	1856	+	Acute lymphoblastic leukemia(192;6.56e-05)		556			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1667A>T	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.20|12.20	1.867934|1.867934	0.32977|0.32977	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235|ENST00000370471	T;T;T;T;T;T|T	0.29917|0.57273	1.55;1.55;1.55;1.55;1.55;1.55|0.41	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.323364|.	0.38663|.	N|.	0.001617|.	T|T	0.48624|0.48624	0.1510|0.1510	N|N	0.22421|0.22421	0.69|0.69	0.51482|0.51482	D|D	0.999922|0.999922	B;B;B;B;B|.	0.30973|.	0.302;0.029;0.029;0.019;0.004|.	B;B;B;B;B|.	0.24394|.	0.053;0.03;0.033;0.012;0.003|.	T|T	0.49661|0.49661	-0.8916|-0.8916	10|7	0.23891|0.42905	T|T	0.37|0.14	-34.0151|-34.0151	13.4308|13.4308	0.61053|0.61053	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	203;556;451;510;533|.	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0|.	.;FMR1_HUMAN;.;.;.|.	L|S	535;523;556;533;531;203|466	ENSP00000218200:H535L;ENSP00000359508:H523L;ENSP00000359506:H556L;ENSP00000395923:H533L;ENSP00000359501:H531L;ENSP00000413764:H203L|ENSP00000359502:T466S	ENSP00000218200:H535L|ENSP00000359502:T466S	H|T	+|+	2|1	0|0	FMR1|FMR1	146834758|146834758	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.025000|6.025000	0.70864|0.70864	1.766000|1.766000	0.52107|0.52107	0.350000|0.350000	0.21858|0.21858	CAC|ACT		0.398	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		10	31	0	0	0	0.010729	0	10	31				
FMR1NB	158521	broad.mit.edu	37	X	147084782	147084782	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:147084782C>A	ENST00000370467.3	+	2	413	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	113						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCTCATGGCCAATCTCTGG	0.363																																							uc004fcm.2		NA																	0				ovary(1)	1						c.(337-339)GGC>GGA		fragile X mental retardation 1 neighbor							127.0	121.0	123.0					X																	147084782		2203	4300	6503	SO:0001819	synonymous_variant	158521					integral to membrane		g.chrX:147084782C>A		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.339C>A	X.37:g.147084782C>A							p.G113G	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			2	413	+	Acute lymphoblastic leukemia(192;6.56e-05)		113			Extracellular (Potential).		D3DWT3	Silent	SNP	ENST00000370467.3	37	c.339C>A	CCDS14683.1																																																																																				0.363	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		25	75	1	0	2.48779e-11	0.005443	3.31706e-11	25	75				
MAGEA11	4110	broad.mit.edu	37	X	148798206	148798206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:148798206G>T	ENST00000355220.5	+	5	1162	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	MAGEA11_ENST00000333104.4_Nonsense_Mutation_p.E325*	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	354	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A77A(1)|p.E354K(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTCTTTGGGGAGCCCAAGAG	0.542																																							uc004fdq.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		cervix(2)	ovary(2)	2						c.(1060-1062)GAG>TAG		melanoma antigen family A, 11 isoform a							140.0	143.0	142.0					X																	148798206		2203	4300	6503	SO:0001587	stop_gained	4110					cytoplasm|nucleus	protein binding	g.chrX:148798206G>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1060G>T	X.37:g.148798206G>T	ENSP00000347358:p.Glu354*					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Nonsense_Mutation_p.E325*	p.E354*	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	1162	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		354			MAGE.		Q5ETU4|Q6ZRZ5	Nonsense_Mutation	SNP	ENST00000355220.5	37	c.1060G>T	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	12.00	1.805146	0.31961	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	.	.	.	0.909	0.909	0.19332	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8361	0.13466	0.0:0.0:1.0:0.0	.	.	.	.	X	325;354	.	.	E	+	1	0	MAGEA11	148576199	0.058000	0.20735	0.014000	0.15608	0.031000	0.12232	0.274000	0.18680	0.721000	0.32231	0.377000	0.23210	GAG		0.542	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		46	189	1	0	1.07234e-20	0.01441	1.67159e-20	46	189				
MAMLD1	10046	broad.mit.edu	37	X	149631068	149631068	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:149631068G>T	ENST00000370401.2	+	3	437	c.127G>T	c.(127-129)Gat>Tat	p.D43Y	MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.D43Y			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	43					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGAAGAAGATTTATCTTT	0.483																																							uc004fee.1		NA																	0					0						c.(127-129)GAT>TAT		mastermind-like domain containing 1							62.0	63.0	63.0					X																	149631068		1927	4116	6043	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149631068G>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.127G>T	X.37:g.149631068G>T	ENSP00000359428:p.Asp43Tyr					MAMLD1_uc011mxt.1_Missense_Mutation_p.D5Y|MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Intron	p.D43Y	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			2	203	+	Acute lymphoblastic leukemia(192;6.56e-05)		43					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.127G>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	5.061	0.196944	0.09599	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000358892;ENST00000262858	T;T	0.61627	0.09;0.09	0.929	-1.86	0.07760	.	.	.	.	.	T	0.27349	0.0671	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.17098	0.017	T	0.14117	-1.0484	9	0.17369	T	0.5	.	2.2732	0.04095	0.3227:0.3193:0.358:0.0	.	43	Q13495	MAMD1_HUMAN	Y	5;43;43;43	ENSP00000359428:D43Y;ENSP00000262858:D43Y	ENSP00000262858:D43Y	D	+	1	0	MAMLD1	149381726	0.007000	0.16637	0.001000	0.08648	0.010000	0.07245	-0.104000	0.10923	-0.864000	0.04078	0.462000	0.41574	GAT		0.483	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		12	46	1	0	1.45105e-14	0.006122	2.09267e-14	12	46				
AVPR2	554	broad.mit.edu	37	X	153172004	153172004	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:153172004T>A	ENST00000358927.2	+	4	1147	c.938T>A	c.(937-939)cTg>cAg	p.L313Q	ARHGAP4_ENST00000467421.1_5'Flank|AVPR2_ENST00000337474.5_Missense_Mutation_p.L313Q|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	313					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CTCATGTTGCTGGCCAGCCTC	0.617																																							uc004fjh.3		NA																	0				breast(1)	1						c.(937-939)CTG>CAG		arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						160.0	137.0	145.0					X																	153172004		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153172004T>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.938T>A	X.37:g.153172004T>A	ENSP00000351805:p.Leu313Gln					AVPR2_uc004fjg.3_Missense_Mutation_p.L102Q|AVPR2_uc004fji.2_3'UTR	p.L313Q	NM_000054	NP_000045	P30518	V2R_HUMAN			3	1009	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		313			Helical; Name=7; (Potential).		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.938T>A	CCDS14735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	18.15|18.15	3.559023|3.559023	0.65538|0.65538	.|.	.|.	ENSG00000126895|ENSG00000126895	ENST00000358927;ENST00000337474|ENST00000430697	T;T|T	0.52057|0.81330	0.68;0.68|-1.48	4.3|4.3	4.3|4.3	0.51218|0.51218	GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.92315|0.92315	0.7562|0.7562	H|H	0.97077|0.97077	3.935|3.935	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.93954|0.93954	0.7234|0.7234	10|7	0.87932|0.87932	D|D	0|0	-17.1165|-17.1165	11.9169|11.9169	0.52771|0.52771	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	313|.	P30518|.	V2R_HUMAN|.	Q|R	313|284	ENSP00000351805:L313Q;ENSP00000338072:L313Q|ENSP00000393513:W284R	ENSP00000338072:L313Q|ENSP00000393513:W284R	L|W	+|+	2|1	0|0	AVPR2|AVPR2	152825198|152825198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.790000|0.790000	0.44656|0.44656	6.168000|6.168000	0.71908|0.71908	1.512000|1.512000	0.48834|0.48834	0.342000|0.342000	0.21767|0.21767	CTG|TGG		0.617	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			58	244	0	0	0	0.01441	0	58	244				
FLNA	2316	broad.mit.edu	37	X	153588368	153588368	+	Silent	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:153588368A>G	ENST00000369850.3	-	22	4031	c.3795T>C	c.(3793-3795)atT>atC	p.I1265I	FLNA_ENST00000360319.4_Silent_p.I1265I|FLNA_ENST00000422373.1_Silent_p.I1265I|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Silent_p.I1265I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1265					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGCCCTCAATACCAGGCC	0.642																																							uc004fkk.2		NA																	0				breast(6)	6						c.(3793-3795)ATT>ATC		filamin A, alpha isoform 2							32.0	36.0	35.0					X																	153588368		1976	4121	6097	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588368A>G	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3795T>C	X.37:g.153588368A>G						FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.I1265I	p.I1265I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			22	4044	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1265			Filamin 11.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.3795T>C	CCDS48194.1																																																																																				0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			7	60	0	0	0	0.00308	0	7	60				
OR2M3	127062	broad.mit.edu	37	1	248366489	248366489	+	Frame_Shift_Del	DEL	G	G	-	rs143468114		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:248366489delG	ENST00000456743.1	+	1	158	c.120delG	c.(118-120)atgfs	p.M40fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGCCTTCATGGGAAACTCTG	0.542																																							uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(118-120)ATGfs		olfactory receptor, family 2, subfamily M,							235.0	231.0	232.0					1																	248366489		2203	4297	6500	SO:0001589	frameshift_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366489delG		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.120delG	1.37:g.248366489delG	ENSP00000389625:p.Met40fs						p.M40fs	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	120	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		40			Helical; Name=1; (Potential).		B9EH06|Q6IEY0	Frame_Shift_Del	DEL	ENST00000456743.1	37	c.120delG	CCDS31107.1																																																																																				0.542	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		53	326	NA	NA	NA	NA	NA	53	326	---	---	---	---
CNTF	1270	broad.mit.edu	37	11	58391793	58391794	+	Frame_Shift_Ins	INS	-	-	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:58391793_58391794insC	ENST00000361987.4	+	2	481_482	c.401_402insC	c.(400-405)atccccfs	p.IP134fs	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	134					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GAATACAAGATCCCCCGCAATG	0.48																																							uc001nna.3		NA																	0				ovary(1)	1						c.(400-402)ATCfs		ciliary neurotrophic factor																																				SO:0001589	frameshift_variant	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58391793_58391794insC	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.406dupC	11.37:g.58391798_58391798dupC	ENSP00000355370:p.Ile134fs					ZFP91-CNTF_uc010rkm.1_RNA	p.I134fs	NM_000614	NP_000605	P26441	CNTF_HUMAN			2	481_482	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	134					B2RAB2	Frame_Shift_Ins	INS	ENST00000361987.4	37	c.401_402insC	CCDS31554.1																																																																																				0.480	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		12	44	NA	NA	NA	NA	NA	12	44	---	---	---	---
ATM	472	broad.mit.edu	37	11	108128207	108128208	+	Splice_Site	INS	-	-	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:108128207_108128208insT	ENST00000452508.2	+	16	2439_2440		c.e16-1		ATM_ENST00000278616.4_Splice_Site			Q13315	ATM_HUMAN	ATM serine/threonine kinase						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATTCACAATAGTCTCTAATGCA	0.297			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	GRCh37	CS983692	ATM	S		c.e15-1	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1																																				SO:0001630	splice_region_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108128207_108128208insT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2251-1->T	11.37:g.108128208_108128208dupT		TSP Lung(14;0.12)				ATM_uc009yxr.1_Splice_Site_p.S751_splice	p.S751_splice	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	15	2636	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)						B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	INS	ENST00000452508.2	37	c.2251_splice	CCDS31669.1																																																																																				0.297	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Intron	7	41	NA	NA	NA	NA	NA	7	41	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115118942	115118942	+	Frame_Shift_Del	DEL	A	A	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:115118942delA	ENST00000257566.3	-	2	788	c.399delT	c.(397-399)tttfs	p.F133fs	TBX3_ENST00000349155.2_Frame_Shift_Del_p.F133fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	133					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TAAATGGAGGAAACATTCGCC	0.328																																							uc001tvt.1		NA																	0				ovary(2)|skin(1)	3						c.(397-399)TTTfs		T-box 3 protein isoform 2							97.0	107.0	104.0					12																	115118942		2203	4300	6503	SO:0001589	frameshift_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115118942delA	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.399delT	12.37:g.115118942delA	ENSP00000257566:p.Phe133fs					TBX3_uc001tvu.1_Frame_Shift_Del_p.F133fs|TBX3_uc010syw.1_Frame_Shift_Del_p.F133fs	p.F133fs	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1363	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		133			T-box; first part.		Q8TB20|Q9UKF8	Frame_Shift_Del	DEL	ENST00000257566.3	37	c.399delT	CCDS9176.1																																																																																				0.328	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		14	101	NA	NA	NA	NA	NA	14	101	---	---	---	---
AATF	26574	broad.mit.edu	37	17	35378272	35378273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:35378272_35378273insA	ENST00000225402.5	+	10	1757_1758	c.1506_1507insA	c.(1507-1509)aaafs	p.K503fs		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	503					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GCAAAATCCACAAAAAAGTAGA	0.361																																					NSCLC(49;901 1159 19183 41572 46244)	NSCLC(49;901 1159 19183 41572 46244)	uc002hni.2		NA																	0					0						c.(1504-1509)CACAAAfs		apoptosis antagonizing transcription factor																																				SO:0001589	frameshift_variant	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35378272_35378273insA	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1512dupA	17.37:g.35378278_35378278dupA	ENSP00000225402:p.Lys503fs					AATF_uc002hnj.2_RNA	p.H502fs	NM_012138	NP_036270	Q9NY61	AATF_HUMAN			10	1757_1758	+		Breast(25;0.00607)	502_503					A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Frame_Shift_Ins	INS	ENST00000225402.5	37	c.1506_1507insA	CCDS32632.1																																																																																				0.361	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		15	20	NA	NA	NA	NA	NA	15	20	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1207090	1207091	+	Frame_Shift_Ins	INS	-	-	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:1207090_1207091insA	ENST00000326873.7	+	1	1351_1352	c.178_179insA	c.(178-180)tacfs	p.Y60fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.G56fs*4(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGGCTCTTACGGCAAGGTG	0.629		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		24	Whole gene deletion(20)|Deletion - Frameshift(2)|Unknown(2)	p.0?(19)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)|p.G56fs*4(1)|p.G52_P179del(1)	cervix(15)|lung(4)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266	GRCh37	CI055775	STK11	I		c.(178-180)TACfs		serine/threonine protein kinase 11																																				SO:0001589	frameshift_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1207090_1207091insA	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.179dupA	19.37:g.1207091_1207091dupA	ENSP00000324856:p.Tyr60fs	TSP Lung(3;<1E-08)					p.Y60fs	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1293_1294	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	60			ATP (By similarity).|Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Ins	INS	ENST00000326873.7	37	c.178_179insA	CCDS45896.1																																																																																				0.629	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		19	27	NA	NA	NA	NA	NA	19	27	---	---	---	---
ARL4A	10124	broad.mit.edu	37	7	12727948	12727976	+	Frame_Shift_Del	DEL	TGTTATTCTGGGTTTGGACTGTGCTGGAA	TGTTATTCTGGGTTTGGACTGTGCTGGAA	-	rs144595174	byFrequency	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	TGTTATTCTGGGTTTGGACTGTGCTGGAA	TGTTATTCTGGGTTTGGACTGTGCTGGAA	-	-	TGTTATTCTGGGTTTGGACTGTGCTGGAA	TGTTATTCTGGGTTTGGACTGTGCTGGAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:12727948_12727976delTGTTATTCTGGGTTTGGACTGTGCTGGAA	ENST00000396663.1	+	2	551_579	c.69_97delTGTTATTCTGGGTTTGGACTGTGCTGGAA	c.(67-99)attgttattctgggtttggactgtgctggaaagfs	p.VILGLDCAGK24fs	ARL4A_ENST00000396664.2_Frame_Shift_Del_p.VILGLDCAGK24fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.VILGLDCAGK24fs|ARL4A_ENST00000396662.1_Frame_Shift_Del_p.VILGLDCAGK24fs|ARL4A_ENST00000404894.1_Frame_Shift_Del_p.VILGLDCAGK24fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	24					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		CTTTCCACATTGTTATTCTGGGTTTGGACTGTGCTGGAAAGACAACTGT	0.406																																							uc003ssp.2		NA																	0					0						c.(67-99)ATTGTTATTCTGGGTTTGGACTGTGCTGGAAAGfs		ADP-ribosylation factor-like 4A																																				SO:0001589	frameshift_variant	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12727948_12727976delTGTTATTCTGGGTTTGGACTGTGCTGGAA	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.69_97delTGTTATTCTGGGTTTGGACTGTGCTGGAA	7.37:g.12727948_12727976delTGTTATTCTGGGTTTGGACTGTGCTGGAA	ENSP00000379898:p.Val24fs					ARL4A_uc003ssq.2_Frame_Shift_Del_p.I23fs|ARL4A_uc003ssr.2_Frame_Shift_Del_p.I23fs|ARL4A_uc003sss.2_Frame_Shift_Del_p.I23fs	p.I23fs	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	346_374	+			23_33			GTP (By similarity).		A4D119|P80418|Q49AF5	Frame_Shift_Del	DEL	ENST00000396663.1	37	c.69_97delTGTTATTCTGGGTTTGGACTGTGCTGGAA	CCDS5359.1																																																																																				0.406	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		7	83	NA	NA	NA	NA	NA	7	83	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	420560	420561	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:420560_420561delTG	ENST00000453981.1	+	31	4112_4113	c.4000_4001delTG	c.(4000-4002)tgtfs	p.C1334fs	DOCK8_ENST00000469391.1_Frame_Shift_Del_p.C1234fs|DOCK8_ENST00000432829.2_Frame_Shift_Del_p.C1266fs|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Frame_Shift_Del_p.C801fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1334					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTTTTCATCTGTGTGTTATGT	0.411																																							uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(4000-4002)TGTfs		dedicator of cytokinesis 8																																				SO:0001589	frameshift_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:420560_420561delTG	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4000_4001delTG	9.37:g.420564_420565delTG	ENSP00000408464:p.Cys1334fs					DOCK8_uc010mgu.2_Frame_Shift_Del_p.C636fs|DOCK8_uc010mgv.2_Frame_Shift_Del_p.C1234fs|DOCK8_uc003zgk.2_Frame_Shift_Del_p.C792fs	p.C1334fs	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	31	4112_4113	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1334			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Del	DEL	ENST00000453981.1	37	c.4000_4001delTG	CCDS6440.2																																																																																				0.411	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		8	110	NA	NA	NA	NA	NA	8	110	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18533290	18533290	+	Splice_Site	DEL	G	G	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:18533290delG	ENST00000380548.4	+	3	576	c.237delG	c.(235-237)gtg>gt	p.V79fs	ADAMTSL1_ENST00000276935.6_Splice_Site_p.V79fs|ADAMTSL1_ENST00000380566.4_Splice_Site_p.V79fs|ADAMTSL1_ENST00000431052.2_Splice_Site_p.V79fs|ADAMTSL1_ENST00000327883.7_Splice_Site_p.V79fs|ADAMTSL1_ENST00000380570.4_Splice_Site_p.V79fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	79	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCAGTAATGTGGTAAGTATAA	0.333																																							uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(235-237)GTGfs		ADAMTS-like 1 isoform 4 precursor							128.0	129.0	129.0					9																	18533290		2203	4298	6501	SO:0001630	splice_region_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18533290delG	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.237+1G>-	9.37:g.18533290delG						ADAMTSL1_uc003znb.2_Frame_Shift_Del_p.V79fs|ADAMTSL1_uc003znc.3_Frame_Shift_Del_p.V79fs	p.V79fs	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	3	364	+			79			TSP type-1 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Del	DEL	ENST00000380548.4	37	c.237delG	CCDS47954.1																																																																																				0.333	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Frame_Shift_Del	16	45	NA	NA	NA	NA	NA	16	45	---	---	---	---
FOXO4	4303	broad.mit.edu	37	X	70320642	70320642	+	Frame_Shift_Del	DEL	G	G	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:70320642delG	ENST00000374259.3	+	2	894	c.562delG	c.(562-564)ggcfs	p.G188fs	FOXO4_ENST00000341558.3_Frame_Shift_Del_p.G133fs	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	188					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGGCAAGAGCGGCAAAgcccc	0.627											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004dys.1		NA																	0				central_nervous_system(2)|prostate(1)	3						c.(562-564)GGCfs		forkhead box O4							26.0	27.0	27.0					X																	70320642		2024	4164	6188	SO:0001589	frameshift_variant	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70320642delG		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.562delG	X.37:g.70320642delG	ENSP00000363377:p.Gly188fs		OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	FOXO4_uc010nkz.2_Frame_Shift_Del_p.G188fs|FOXO4_uc004dyt.1_Frame_Shift_Del_p.G133fs	p.G188fs	NM_005938	NP_005929	P98177	FOXO4_HUMAN			2	915	+	Renal(35;0.156)		188			Fork-head.		B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Frame_Shift_Del	DEL	ENST00000374259.3	37	c.562delG	CCDS43969.1																																																																																				0.627	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		9	25	NA	NA	NA	NA	NA	9	25	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144904859	144904859	+	Frame_Shift_Del	DEL	A	A	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:144904859delA	ENST00000370490.1	+	1	5171	c.916delA	c.(916-918)aaafs	p.K306fs	SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.K306fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.K306fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.K306fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.K306fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	306					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGCCGCCCAAAATGAGAAA	0.552																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(916-918)AAAfs		SLIT and NTRK-like family, member 2 precursor							62.0	58.0	59.0					X																	144904859		2203	4300	6503	SO:0001589	frameshift_variant	84631					integral to membrane		g.chrX:144904859delA	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.916delA	X.37:g.144904859delA	ENSP00000359521:p.Lys306fs					SLITRK2_uc010nsp.2_Frame_Shift_Del_p.K306fs|SLITRK2_uc010nso.2_Frame_Shift_Del_p.K306fs|SLITRK2_uc011mwq.1_Frame_Shift_Del_p.K306fs|SLITRK2_uc011mwr.1_Frame_Shift_Del_p.K306fs|SLITRK2_uc011mws.1_Frame_Shift_Del_p.K306fs|SLITRK2_uc004fcg.2_Frame_Shift_Del_p.K306fs|SLITRK2_uc011mwt.1_Frame_Shift_Del_p.K306fs	p.K306fs	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1906	+	Acute lymphoblastic leukemia(192;6.56e-05)		306			Extracellular (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	ENST00000370490.1	37	c.916delA	CCDS14680.1																																																																																				0.552	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		18	69	NA	NA	NA	NA	NA	18	69	---	---	---	---
